Archive for the ‘Genetic Testing’ Category

Patients in England and Wales who have recently had an ischaemic stroke or transient ischaemic attack could be offered genetic testing to help inform their treatment, following backing from the National Institute for Health and Care Excellence (NICE).

The agency has launched a second consultation on recommendations that clinicians should offer CYP2C19 genotype testing when considering treatment with clopidogrel, an anti-platelet therapy currently recommended as a treatment option for patients at risk of a secondary stroke.

Approximately 35,850 people in England, Wales and Northern Ireland have a non-minor stroke every year.

An estimated 32% of people in the UK have at least one of the highlighted CYP2C19 gene variants, and evidence has suggested that those with these variants have an increased risk of another stroke when taking clopidogrel.

If the genotype test discovers that patients have one of the CYP2C19 gene variants, alternative stroke-prevention treatments would be offered.

Professor Jonathan Benger, chief medical officer at NICE, said: Recommending a genetic test that can offer personalised care to thousands of people who have a stroke each year will be a step forward in ensuring people receive the best possible treatment.

People who are currently taking clopidogrel will not receive retrospective testing and should continue with the treatment until they and their NHS clinician consider it appropriate to stop, NICE outlined.

It added that laboratory-based CYP2C19 genotype testing is its preferred option, followed by the Genedrive CYP2C19 ID Kit point-of-care test and, if neither of the first two options are available, the Genomadix Cube point-of-care test would be used.

The agencys committee has suggested that a phased rollout could be implemented when introducing laboratory-based testing, with testing set to initially be offered to people with a higher risk of stroke recurrence.

Juliet Bouverie, from the Stroke Association, said: Stroke devastates lives and leaves people with life-long disability.

We know that many stroke survivors spend the rest of their lives fearing another stroke, so its great to see that more people could be given appropriate help to significantly cut their risk of recurrent stroke.

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NICE backs post-stroke genetic testing to identify most suitable treatment options - PMLiVE

A second consultation on recommendations that clinicians should offer CYP2C19 genotype testing when considering treatment with clopidogrel after an ischaemic stroke or Transient Ischaemic Attack (a mini stroke) has begun today, Wednesday 3 April 2024.

NICE currently recommends clopidogrel as a treatment option for people at risk of a secondary stroke. For some people with certain variations in a gene called CYP2C19 other treatments could work better. The genotype test would identify people who have the gene variants so they can be offered an alternative treatment.

The draft guidance recommends testing only for people who have very recently had a stroke or TIA. This is because the risk of another event is higher at this time and therefore so is the potential benefit of testing. As the risk of a recurrent stroke or a mini stroke reduces over time, so does the benefit of testing.

For this reason, those people already taking clopidogrel will not be offered retrospective testing.

People who are currently taking clopidogrel should continue with the treatment until they and their NHS clinician consider it appropriate to stop.

Laboratory-based CYP2C19 genotype testing was the committees preferred option followed by the Genedrive CYP2C19 ID Kit point-of-care test. If neither of the first two options are available, the Genomadix Cube point-of-care test can be used.

The NICE committee suggested that a phased rollout could be used when introducing laboratory-based testing with testing initially offered to people with a higher risk of stroke recurrence who would benefit most from it, such as people who have had a non-minor stroke. The committee recognised that it will take time to build up the testing capacity as no testing is currently undertaken to find out if clopidogrel is a suitable treatment.

Around 35,850 people in England, Wales and Northern Ireland have a non-minor stroke each year.

An estimated 32% of people in the UK have at least one of the highlighted CYP2C19 gene variants. They are more common in people with an Asian family background but can be found in people of any ethnicity. Evidence has suggested that people with these variants have an increased risk of another stroke when taking clopidogrel compared to those without them.

If the test discovers they have one of the CYP2C19 gene variants, the person can be treated with another medicine to prevent future strokes.

Around 11 million items of clopidogrel are dispensed each year at a cost of around 16 million to the NHS.

Professor Jonathan Benger, chief medical officer at NICE, said:Recommending a genetic test that can offer personalised care to thousands of people who have a stroke each year will be a step forward in ensuring people receive the best possible treatment.

We recognise that capacity within laboratories will need to increase before everyone who has had a new stroke or mini-stroke can receive testing. While point of care testing is an alternative, our committee has identified that initially those people who could benefit most from laboratory-based testing are those who have had a non-minor stroke.

Anyone who is currently being treated with clopidogrel should continue with the treatment. They should only stop after discussing the options with their clinician.

Juliet Bouverie, from the Stroke Association, said:"Stroke devastates lives and leaves people with life-long disability. We know that many stroke survivors spend the rest of their lives fearing another stroke, so it's great to see that more people could be given appropriate help to significantly cut their risk of recurrent stroke.

"Getting on the right medication and taking it as advised can really go far to prevent further strokes. If you have been prescribed clopidogrel, you need to keep taking it. If you're worried about your risk of another stroke, you should speak to your doctor."

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NICE launches second consultation on genetic testing to guide treatment after a stroke - NICE

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder resulting from germline mutations in the APC gene. The APC gene, comprising 15 exons and encoding a protein with 2843 amino acids, is implicated in ~80% of FAP cases1. Extensive genetic analysis has revealed germline variants in FAP patients, and most APC mutations are found in the 5 half of the coding region. Genotypephenotype correlations have been reported for small-nucleotide alterations, including frameshift and nonsense mutations2,3. Large genomic deletions and duplications have been identified using multiplex ligation-dependent probe amplification (MLPA)4. Whole-genome array comparative genomic hybridization (aCGH) was used to identify a large deletion involving the middle portion of the long arm of chromosome 55. Here, we report a case of an FAP patient with intellectual disability that was attributed to a large deletion involving 5q22.2.

The proband was a 28-year-old female who was referred to the emergency hospital with acute abdominal pain. Computed tomography (CT) demonstrated perforation of the descending colon, multiple colorectal polyps, multiple liver metastases and lymph node swelling. She underwent left hemicolectomy, and the subsequent histological diagnosis was moderately differentiated adenocarcinoma (pT4a, pStage IVa). Chemotherapy was selected for treatment of the residual metastasis. Colonoscopy revealed advanced colon cancer with multiple adenomatous polyps (>100). Head CT revealed an osteoma in her skull, and the phenotype was subsequently defined as Gardners syndrome.

The patient had slight intellectual disability without developmental delay or neurogenic abnormalities. She and her mother requested comprehensive genomic panel (CGP) analysis (OncoGuideTM NCC oncopanel, Sysmex, Hyogo, Japan) of surgically resected colon cancer tissue after providing informed consent. This test can detect mutations in 124 genes and differentiate between germline and somatic mutations. The pathogenic mutations detected were KRAS G13D, PIC3CA H1047R, and TP53 M169fs*2, but no targeted therapy was recommended by the expert panel. No germline findings were reported, but whole APC gene deletion was suspected due to the low amplicon depth of the APC gene in both the tumor tissue and blood samples (Fig. S1).

According to her familial history (Fig. 1), her mother (II-3) was treated for sporadic colon cancer. She refused genetic testing due to receiving cancer chemotherapy. Her son (IV-1), whose intelligence was slightly low, had a single-parent history because his father was not identified.

The arrow indicates the patients who underwent genetic counseling. A closed circle indicates an individual with colorectal cancer. Colorectal polyposis was observed in the proband (III-1) but not in her ancestors.

After genetic counseling, aCGH (GenetiSure Dx Postnatal Assay, Agilent, Tokyo, Japan) was performed for further genetic testing. Notably, aCGH revealed the loss of chromosome 5 (chr5) q22.1-q22.2 (Fig. 2), the loss of chr3 p24.1-p23, and the gain of chr15 q15.3. The chr5 deletion included the entire APC gene (chr5:112043195-112181936 in GRCh37) located at 5q22.2 (Fig. S2), according to the Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources (DECIPHER, https://www.deciphergenomics.org).

A heterozygous 5q22 deletion was detected. The minimal and maximal deletion positions in GRCh37 (start_stop) were 111143360_112213143 and 111118900_112239978, respectively.

This case in which the entire APC gene was deleted, as determined by aCGH, is rare. Chromosome 5p22.1-22.2 deletion causes 1Mb of heterozygous loss, including the APC gene, which was reported as a cytogenetically detected deletion in previous reports. Previously, karyotyping and fluorescence in situ hybridization were used to detect large submicroscopic genomic deletions, and aCGH was used to detect high-resolution copy number variants in whole chromosomes6. aCGH is sensitive and comprehensive, allowing detection of multiple variations, and annotations by specialists are needed. DECIPHER catalogs common copy number changes, enabling the identification of potentially pathogenic variants. aCGH can also be used for sequencing targeted genes. For FAP patients, germline APC variants are identified by direct sequencing using next-generation sequencing (NGS) and MLPA5. Sequencing has been used to detect APC gene variants, but ~20% of FAP patients do not carry these variants. MLPA is useful for detecting whole or large APC gene copy number variants in mutation-negative FAP patients. There are several case reports in which germline variants of FAP were examined via aCGH7,8,9,10.

Our young patient with advanced colon cancer derived from multiple colorectal polyposis was diagnosed with FAP according to the clinical features. A CGP was performed using NGS for cancer precision medicine in this patient. Because metastatic colon cancer is treated by chemotherapy, somatic genomic analysis with CGP was also conducted to determine the optimal chemotherapy regimen. Next, we used NGS to determine the sequence of 100bp amplicons of 124 cancer-related genes from cancer tissue and peripheral blood. A large APC deletion was not detected by this targeted sequence, although both the somatic and germline amplicon depths of the APC gene were slightly low. A large number of APC variants have already been deposited in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/). For several FAP patients in which germline APC variants were not found, investigations of copy number variations have been performed. The genotypephenotype correlation of patients with chromosome 5q deletions has been discussed10. A classical FAP phenotype is associated with a mutation in codons 1681250 or codons 14001580. A severe phenotype is caused by a mutation in codons 12501464. A more attenuated form is associated with mutations in three regions: the 5 region of the APC gene, the alternative splicing region in exon 9, and the extreme 3 end of the gene11.

Whole or partial APC gene deletions can be detected with recently developed genetic techniques9,10,12. MLPA and aCGH are candidates for confirming large deletions or duplications, and the latter genetic test was chosen for our patient. In our patient, two chromosomal losses and one gain were detected. The advantage of chromosomal analysis is that it can reveal unexpected genetic changes even in separate chromosomes. The CGH database includes some patients with large deletions in chromosomal region 5q22, including the APC gene. In a very recent case report, aCGH was utilized to identify a large 19.85Mb deletion12. A case series with a literature review described a patient with intellectual disability and a colon neoplasm with an interstitial deletion of 5q identified by aCGH. Colorectal cancers are observed in some patients with 5q deletions, yet examination of colorectal polyposis in this context is limited. Among the primary dysmorphisms and symptoms linked to 5q deletions, the predominant manifestation identified in the analysis of 12 patients was mental retardation12. The cases documented in both the literature and the DECIPHER database are characterized by common clinical features, including predisposition to cancer, intellectual disability, and neurodevelopmental delay. Patients with these congenital changes should undergo genetic testing, including G-band, fluorescence in situ hybridization (FISH), and aCGH. aCGH offers high resolution, allowing for the detection of changes at the chromosomal level. This high sensitivity is particularly valuable when conventional methods, such as karyotyping or FISH, may not provide detailed information about genomic alterations. Moreover, this approach allows researchers and clinicians to explore potential genetic factors beyond the well-known APC genes. In the near future, long-read sequencing of large deletions may enable us to obtain detailed genomic information13. Additional clinical information is needed to establish the genotypephenotype correlations associated with the 5q22.2 deletion that includes the whole APC gene. The published cases have raised the question of whether whole APC deletion induces colorectal polyposis. Casper et al. reported a case of Gardner syndrome attributable to a substantial interstitial deletion of chromosome 5q, offering a comprehensive review of published cases9. Until 2014, 16 patients with FAP resulting from chromosome 5q deletions were documented, with all but one patient presenting with classic adenomatous polyposis rather than the profuse form. Most of these deletions were de novo alterations, consistent with our reported case in which the patients mother (II-3) exhibited sporadic colon cancer without polyposis. In the familial lineage (Fig. 1), our patients son (IV-1) carried a deletion in the 5q22.1-22.2 region, mirroring the genomic alteration of his mother (III-1). However, the genetic inheritance pattern of this large deletion is unclear. Meticulous follow-up of the young boy is important for addressing this issue.

In conclusion, this study describes a rare FAP patient characterized by a large deletion of chromosome 5q22.1-22.2 identified through comprehensive genomic analysis. The genetic variant was suspected by CGP and eventually identified by aCGH. These findings emphasize the importance of advanced genetic techniques in identifying complex genomic variations and suggest a need for additional research to elucidate the specific features associated with whole-APC gene deletions.

Link:
Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and ... - Nature.com

The global genetic analysis market was evaluated at USD 10.55 billion in 2023 and is expected to attain around USD 23.60 billion by 2033, growing at a CAGR of 8.39% from 2024 to 2033. The increasing demand for genetic testing services is driving growth within the genetic analysis market.

Market Overview

The genetic analysis market is experiencing significant transformation due to advances in genetic technology, which are fundamentally changing perceptions and practices within the healthcare industry. At the heart of this transformation lies the process of genetic analysis, which involves the examination of DNA samples to identify mutations that may influence disease susceptibility or treatment response. This analysis is pivotal for understanding the structure and function of genes, with techniques such as gene cloning playing a crucial role in isolating and replicating specific genes for detailed examination.

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One notable aspect of genetic analysis is its diverse clinical applications. It serves as a diagnostic tool, aiding in the confirmation of diagnoses in symptomatic individuals, while also facilitating the monitoring of disease prognosis and treatment response. Additionally, genetic analysis enables predictive or predisposition testing, allowing for the identification of individuals at risk of developing certain diseases before symptoms manifest.

The emergence of predictive genetic testing is creating new market opportunities, as it enables proactive disease prevention strategies and early interventions. As perceptions regarding genetic testing continue to evolve, the market for genetic analysis is expected to witness sustained growth, driven by its potential to revolutionize patient care and improve health outcomes.

Key Insights

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North America to sustain its position in the upcoming years with the U.S. being largest contributor

In 2023, North America emerged as the dominant force in the genetic analysis market, particularly in the United States. The US showcased a robust infrastructure with 200 laboratories actively conducting 37,124 clinical tests, underscoring the region's significant investment and adoption of genetic analysis technologies. Notably, 29 laboratories specialized in whole exome sequencing (WES), while 17 laboratories focused on whole genome sequencing (WGS), indicating a wide array of genetic testing capabilities available within the country.

The United States exhibits a proactive approach towards healthcare, as evidenced by mandatory newborn screening programs targeting a specific set of genetic diseases. Although the exact set of diseases screened may vary from state to state, the emphasis remains on conditions where early diagnosis is crucial for effective treatment or prevention strategies. This regulatory framework underscores the importance placed on leveraging genetic analysis for proactive healthcare management and disease prevention initiatives.

Beyond clinical applications, genetic analysis in North America extends to ecological and environmental contexts. The presence of invasive species such as Phragmites australis subsp. australis poses ecological challenges across multiple regions. The co-occurrence of this invasive subspecies with native counterparts and instances of hybridization necessitates precise differentiation methods for effective management strategies. Genetic analysis plays a pivotal role in distinguishing between phragmites subspecies or haplotypes, facilitating targeted management efforts to mitigate ecological harm and preserve native ecosystems.

Asia Pacific to witness lucrative opportunities in the upcoming years

Asia Pacific emerges as a pivotal region poised for substantial growth in the genetic analysis sector, driven by dynamic developments in genetic counselling and genome mapping initiatives. Forecasts indicate that Asia Pacific will experience the fastest growth rate in the genetic analysis market during the forecast period, underscoring the region's significance in shaping the future of genetic healthcare services.

A recent milestone in the region's genetic counselling landscape is the establishment of the Professional Society of Genetic Counsellors in Asia (PSGCA). Formed as a special interest group of the Asia Pacific Society of Human Genetics, PSGCA aims to spearhead the advancement and integration of the genetic counselling profession across Asia. With a vision to become the premier organization driving genetic counselling mainstream adoption in the region, PSGCA endeavors to ensure equitable access to genetic counselling services for individuals. Its mission centers on elevating standards of practice, curriculum, research, and continuing education to promote quality genetic counselling services throughout Asia.

The rapid evolution of genetic and genomic technologies has significantly transformed healthcare services in low- and middle-income countries (LMICs) across the Asia-Pacific region. Initially focused on population-based disease prevention strategies, genetic services have transitioned towards clinic-based and therapeutics-oriented approaches. Notably, the region's genetic diversity, exemplified by populous and genetically varied countries such as China, India, Japan, and Indonesia, positions them as prime candidates for genome mapping research endeavors.

How the genetic analysis market in Asia Pacific

Report Highlights

By Product

The reagents & kits segment asserted dominance in the genetic analysis market in 2023. DNA reagents play a pivotal role in various DNA-related processes and techniques, including sequencing, synthesis, cloning, and mutagenesis. These products encompass a diverse range, such as plasmids, buffers, labeling technology, columns, and comprehensive test kits utilized in DNA testing, including direct-to-consumer (DTC) genetic tests. While offering accessible information about the scientific basis of tests, the usage of DTC genetic tests carries inherent risks due to the absence of personalized guidance concerning the results.

The instruments segment emerged as the fastest-growing sector within the genetic analysis market. Core laboratory instruments constitute essential tools in genetic engineering research, facilitating precise and reliable experimentation. Polymerase Chain Reaction (PCR) machines, also known as thermal cyclers, stand as indispensable equipment in genetic engineering labs, enabling the amplification of specific DNA segments crucial for detailed analysis.

By Test

In 2023, the disease diagnostic testing segment emerged as the dominant force in the genetic analysis market. This segment specializes in identifying whether individuals harbor specific genetic diseases by detecting alterations in particular genes. While these tests excel at pinpointing gene mutations, they often fall short in determining disease severity or age of onset. Thousands of diseases stem from mutations in a single gene, making diagnostic testing pivotal in confirming or ruling out genetic diseases and chromosomal abnormalities. Frequently utilized during pregnancy or when symptomatic, diagnostic genetic testing offers crucial insights for accurate diagnosis and timely intervention.

The prenatal and newborn testing segment emerged as the fastest-growing sector in the genetic analysis market during the forecast period. Prenatal genetic testing provides prospective parents with vital information regarding potential genetic disorders in the fetus. Prenatal screening tests assess the likelihood of fetal aneuploidy and select disorders, while prenatal diagnostic tests definitively ascertain the presence of specific disorders. These tests, conducted on fetal or placental cells obtained through procedures like amniocentesis or chorionic villus sampling (CVS), play a pivotal role in informed decision-making during pregnancy.

Newborn screening, a subset of prenatal and newborn testing, comprises a set of laboratory tests performed on newborns to detect known genetic diseases. Typically conducted via a heel prick within the first few days of life, newborn screening enables early identification and intervention for treatable genetic conditions, thereby improving health outcomes. As the demand for early detection and preventive measures rises, the prenatal and newborn testing segment is poised for continued growth, bolstering the comprehensive landscape of genetic analysis.

By Technology

In 2023, the real-time PCR system segment emerged as the dominant force in the genetic analysis market. Real-time PCR (RT-PCR) systems offer unparalleled capabilities for quantitative genotyping and detection of single nucleotide polymorphisms (SNPs), allelic discrimination, and genetic variations even in samples with minimal mutation carriers. Multiplex PCR systems, a subset of RT-PCR, are gaining prominence, particularly in plant/microbe associations, where standard PCR methods prove inadequate. Multiplex RT-PCR facilitates the identification of multiple genes through the utilization of fluorochromes and analysis of melting curves, providing enhanced accuracy and efficiency in genetic analysis.

The next-generation sequencing (NGS) segment emerged as the fastest-growing sector in the genetic analysis market. NGS technology revolutionizes DNA sequencing and RNA sequencing and variant/mutation detection by enabling high-throughput sequencing of hundreds to thousands of genes or whole genomes within a short timeframe. The sequence variants/mutations detected by NGS hold profound implications for disease diagnosis, prognosis, therapeutic decision-making, and patient follow-up, paving the way for personalized precision medicine initiatives.

By Application

In 2023, the infectious diseases segment asserted dominance in the genetic analysis market, offering molecular genetic tests capable of identifying common viruses or bacteria responsible for respiratory infections and infectious diarrhea. These tests, conducted on samples collected from the nose and throat or a single stool sample, facilitate rapid and accurate diagnosis, enabling timely treatment and containment of infectious outbreaks.

The genetic diseases segment emerged as the fastest-growing sector in the genetic analysis market during the forecast period. The extent to which genes contribute to diseases varies, presenting opportunities for advancements in understanding genetic mechanisms underlying various conditions. This progress facilitates the development of early diagnostic tests, novel treatments, and preventive interventions to mitigate disease onset or severity.

By End Use

In 2023, the research & development laboratories segment emerged as the dominant force in the genetic analysis market, actively driving advancements in genetic disease study and testing technology. These laboratories are pivotal in enhancing clinical patient care by conducting rigorous research and development activities aimed at improving test strategies and introducing novel genetic tests. Board-certified directors and genetic counsellors collaborate closely with laboratory supervisors and technologists to ensure the delivery of accurate and reliable results within stipulated timelines. With a focus on meeting stringent validation standards, approved tests undergo thorough evaluations of methodology and clinical utility. Research programs within these laboratories leverage collective expertise to propel the field of genetics and genetic testing forward.

The diagnostic centers segment is poised for significant growth in the genetic analysis market during the forecast period. Diagnostic centers offer a comprehensive range of testing services crucial for diagnosing diverse medical conditions. By providing accurate and informed diagnoses, diagnostic centers enable physicians to develop effective treatment plans, ultimately enhancing patient outcomes. Leveraging advanced diagnostic technologies and techniques, these centers play a vital role in identifying underlying causes of diseases, monitoring disease progression, and devising personalized treatment approaches. Collaborating with healthcare providers like primary care physicians, specialists, and hospitals, diagnostic centers ensure accurate and timely diagnoses across a spectrum of medical conditions, reinforcing their indispensable role in modern healthcare delivery.

Market Dynamics

Driver: Advances in Genetic Sequencing and Gene Therapy

Significant strides in genetic sequencing, human genome analysis, and medical genetics have revolutionized disease understanding, diagnostic accuracy, and drug development targets. A pivotal breakthrough in medical genetics is the emergence of gene therapy, which involves modifying or replacing genes to treat or prevent diseases. Already applied successfully in treating conditions like inherited blindness and severe combined immunodeficiency (SCID), gene therapy is poised to expand its impact further.

Future projections indicate that gene therapy will play an increasingly vital role in medical genetics, offering treatments for previously untreatable diseases. This trajectory is expected to fuel the growth of the genetic analysis market, as the demand for advanced genetic testing and analysis escalates to support the development and implementation of gene therapy treatments.

Restraint: Privacy Concerns in Genetic Analysis

Privacy concerns poses a major challenge in the genetic analysis domain due to the inherent uniqueness of genomic data, hindering true anonymization efforts. Additionally, security measures are crucial to restrict access to data based on authorized clearance levels, safeguarding against unauthorized breaches. Confidentiality emerges as a key ethical consideration, dictating the responsible sharing of genetic data. These privacy concerns, among others, including consent and data ownership, serve as significant restraints in the genetic analysis market. Addressing these challenges effectively is essential to ensure ethical practices and foster trust among stakeholders, thereby mitigating the barriers to market growth.

Opportunity: Integration of Artificial Intelligence in Genetic Analysis

The integration of artificial intelligence (AI) is revolutionizing clinical genetics, offering unprecedented opportunities for advancement. AI algorithms possess the capability to analyse vast volumes of genetic data rapidly and accurately, facilitating more precise diagnoses and tailored treatment plans. Furthermore, AI empowers predictive analysis of disease risk, enabling the development of proactive disease prevention strategies. In genetic engineering and gene therapy research, AI serves as a powerful tool, aiding in hypothesis generation and experimental techniques. Leveraging AI, researchers can detect hereditary and gene-related disorders with greater efficiency.

Moreover, AI-driven developments hold immense promise for rational drug discovery and design, ultimately impacting humanity's well-being. As AI and machine learning (ML) technologies continue to drive innovation in drug development, genetics emerges as a prime beneficiary, with AI expected to influence every facet of the human experience. This presents a compelling opportunity for the genetic analysis market to capitalize on AI-driven advancements and propel transformative growth.

Recent Developments

Key Players in the Clinical Trials Market

Segments Covered in the Report

By Product

By Test

By Technology

By Application

By End-use

By Geography

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Genetic Analysis Market Size to Attain Around USD 23.60 BN by 2033 - BioSpace

Susan G. Komen Commends Bill Introduction; Urges Quick Passage

ST. PAUL, Minn., March 28, 2024 /PRNewswire/ --Susan G. Komen, the world's leading breast cancer organization, applauds Representative Patty Acomb (D-Minnetonka) for introducing legislation that would eliminate financial barriers to clinically appropriate genetic testing, as well as the recommended screenings based on the results of that testing.

In Minnesota, more than 5,480 people will be diagnosed with breast cancer and 630 are expected to die of the disease in 2024 alone. In the U.S., 5-10% of breast cancers are related to a known inherited gene mutation. The lifetime risk of breast cancer increases 20-49% for women with moderate risk inherited gene mutations and 50% or more for women with high-risk inherited gene mutations.

HF 5050, introduced by Rep Acomb, eliminates the patient out-of-pocket costs for multi-gene panel testing for inherited gene mutations and evidence-based screenings, ensuring individuals have access to critical information regarding their lifetime cancer risk and recommended early detection and cancer surveillance.

"Passage of this legislation will allow patients to better understand their lifetime cancer risk and access to needed risk reduction and treatment strategies," said Molly Guthrie, Vice President of Policy and Advocacy at Susan G. Komen. "Individuals should have all information needed to make informed decisions about their healthcare without burdensome financial barriers."

Germline testing is a type of test that looks for inherited mutations that have been present in every cell of the body since birth. These tests are conducted via the collection and analysis of blood, saliva or cheek cells. Identification of inherited cancer risk can help guide decisions regarding recommended screenings for the early detection of cancer, personalized cancer treatments and risk-reducing medical treatments.

Studies have shown an estimated 83 percent of eligible patients that underwent multigene panel testing had changes to their medical management, including modifications in follow-up and chemotherapy strategy.

"This legislation will ensure patients have equitable access to information concerning their lifetime risk of cancer, allowing them to make key decisions regarding risk reducing strategies and recommended screenings for early detection," said Rep. Patty Acomb.

According to a 2020 American Association for Cancer Research Report, 65% of young white women with breast cancer were offered genetic testing, while only 36% of young Black women with breast cancer were offered the same test options. Additional studies show that minority patients were more likely to utilize genetic testing following a cancer diagnosis but less likely following a family history of cancer, resulting in a missed opportunity for mutation detection and cancer prevention for these patients.

About Susan G. KomenSusan G. Komen is the world's leading nonprofit breast cancer organization, working to save lives and end breast cancer forever. Komen has an unmatched, comprehensive 360-degree approach to fighting this disease across all fronts and supporting millions of people in the U.S. and in countries worldwide.We advocate for patients, drive research breakthroughs, improve access to high-quality care, offer direct patient support and empower people with trustworthy information. Founded by Nancy G. Brinker, who promised her sister, Susan G. Komen, that she would end the disease that claimed Suzy's life, Komen remains committed to supporting those affected by breast cancer today, while tirelessly searching for tomorrow's cures. Visit komen.org or call 1-877 GO KOMEN. Connect with us on social at http://www.komen.org/contact-us/follow-us/.

CONTACT: Amanda DeBard Susan G. Komen (972) 701-2131 [emailprotected]

SOURCE Susan G. Komen for the Cure

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Bill Introduced in Minnesota Would Increase Access To Genetic Testing - PR Newswire

Genes affected by germline structural variation could conceivably influence cancer risk.

Researchers at Baylor College of Medicines Dan L Duncan Comprehensive Cancer Center and Human Genome Sequencing Center investigated the extent to which forms of genetic variation called germline or inherited structural variation (SV) influence gene expression in human cancers.

Structural variation is one type of genomic variation and can be beneficial, neutral or, if it affects functionally relevant regions of the genome, can seriously affect gene function and contribute to disease, including cancer, said corresponding author Dr. Chad Creighton, professor ofmedicineand co-director of cancer bioinformatics at theDan L Duncan Comprehensive Cancer Centerat Baylor.

Structural variations are larger differences in the genome that occur when a piece of DNA is duplicated, deleted, or switched around, which can impact genetic instructions encoded in DNA and affect the expression of nearby genes. Previous studies led by the researchers have shown that structural variations occurring in specific cell types, like breast cells, can strongly influence gene expression in ways that contribute to transforming a healthy breast cell into a cancer cell.

Its known that germline structural variation also can contribute to the molecular profile of cancers, Creighton said. Here we study the extent of its contribution. The study is published in Cell Reports Medicine.

The researchers worked with data developed by the Pan-Cancer Analysis of Whole Genomes consortium, which includes whole genome sequencing data from 2,658 cancers across 38 tumor types involving 20 major tissues of origin. The team integrated these data with RNA data to identify genes whose expression was associated with nearby germline structural variations.

We found most of the genes associated with germline structural variations would not necessarily have specific roles in cancer, but for some genes, the expression variation might be associated with other conditions, Creighton said.

At the same time, several genes affected by germline structural variation could conceivably contribute to cancer, for instance if these genes have an established cancer association or an association with patient survival.

This study shows that germline structural variation would represent a normal class of genetic variation passed down through generations and may play a significant role in cancer development. The researchers propose that the subset of genes with cancer-relevant associations arising in this study would represent strong candidates for further investigation on their value in genetic testing.

Fengju Chen, Yiqun Zhang and Fritz J. Sedlazeck also contributed to this work.

This study was supported by the National Institutes of Health grant P30CA125123.

By Ana Mara Rodrguez, Ph.D.

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Genetic variation passed down through generations may influence cancer development - Baylor College of Medicine | BCM

DUBLIN, March 27, 2024 /PRNewswire/ -- The"China Genetic Testing Market Report by Test Type, Disease, Technology, Service Provider, Testing Sample 2024-2032" report has been added toResearchAndMarkets.com's offering.

The China genetic testing market size reached US$ 4.3 billion in 2023. The market is projected to reach US$ 14.9 billion by 2032, exhibiting a growth rate (CAGR) of 14.9% during 2023-2032.

Genetic testing is becoming popular in China. It may benefit many different interest groups, such as individuals and families with a history of genetic disorder, pregnant women, employers, and health or life insurance. This market is currently driven by a number of factors such as rising awareness regarding the benefits of genetic testing, availability of direct to consumer tests and increasing incidences of genetic disorders.

Over the past few years, there has been a significant rise in the awareness levels regarding the benefits of genetic testing in China. Genetic testing provides various technologies that help in the early detection of various chronic diseases and ensures its treatment and prevention. Moreover, a rise in the availability of Direct to consumer tests (DTC) which has increased the convenience and accessibility of such tests is also creating a positive impact in the growth of the market.

Moreover, In October, 2015, China announced that the iconic one-child policy had finally been replaced by a universal two-child policy. This is expected to increase the number of babies born each year and create a positive impact on the demand of the new born genetic testing segment. Other major factors that are expected to drive this market include growing middle class, aging population, and expanding healthcare system.

This report provides a deep insight into the China genetic testing market covering all its essential aspects. This ranges from macro overview of the market to micro details of the industry performance, recent trends, key market drivers and challenges, SWOT analysis, Porter's five forces analysis, value chain analysis, etc. This report is a must-read for entrepreneurs, investors, researchers, consultants, business strategists, and all those who have any kind of stake or are planning to foray into the China genetic testing industry in any manner.

Key Questions Answered in This Report

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China Genetic Testing Analysis Report 2024: Market to Reach $14.9 Billion by 2032 from $4.3 Billion in 2023, Driven ... - PR Newswire

Genetic testing done for a 55-year-old woman diagnosed with an unusually mild case of AADC deficiency revealed a disease-causing gene mutation never before reported, according to researchers.

The newly identified mutation, while indeed found to be a cause of the patients genetic disease, still allowed for the relatively preserved function of the AADC protein. The researchers said in a case report that the increased protein function may be why the patients symptoms were mild.

Details were given in An attenuated, adult case of AADC deficiency demonstrated by protein characterization, which was published in the journal Molecular Genetics and Metabolism Reports. The work was funded in part by PTC Therapeutics, makers of the AADC deficiency gene therapy Upstaza (eladocagene exuparvovec).

The researchers said their approach in the womans case provided the molecular basis for the mild presentation of the disease, and added that the experience can also be useful for personalized therapeutic decisions in other mild AADC deficiency patients.

AADC deficiency is caused by mutations in the DDC gene, which provides instructions for making the eponymous AADC enzyme. This enzyme is needed to make brain signaling molecules, or neurotransmitters, like dopamine and serotonin. Abnormally low levels of these neurotransmitters in AADC deficiency lead to disease symptoms.

Most people with AADC deficiency who do not receive treatment have very little ability to move or speak on their own. In marked contrast to the typical picture of severe disease, this patient had only some cognitive abnormalities and occasionally experienced moments of weakness in her legs. Overall, her cognitive issues were fairly mild, and she was able to walk and ascend stairs without too much difficulty.

The patient reported that her siblings also had experienced cognitive issues, and that, as a child, she had sometimes experienced episodes where her eyes would roll upward when she was tired. With the benefit of hindsight, the researchers suspect these childhood episodes may have been oculogyric crises, a characteristic symptom of AADC deficiency.

The woman sought medical attention in her mid-50s because she was experiencing mood swings, and the episodes of weakness in her legs had been getting worse, leading to sudden falls.

Analyses of the fluid around the patients brain indicated low levels of dopamine and serotonin, consistent with a diagnosis of AADC deficiency.

Tests of her blood showed AADC enzyme activity was about 28% of whats considered normal which is low enough to qualify for AADC deficiency, but only just, given that healthy AADC carriers typically have activity of 35% to 40%.

Every individual has two copies of the DDC gene, with one inherited from each biological parent. AADC deficiency only develops if both copies are mutated. Carriers, meanwhile, have one mutated copy and one healthy copy and, as such, dont develop disease.

Genetic testing of this patient showed one of her DDC genes carried a mutation dubbed p.Arg347Gln, which has previously been reported to cause AADC deficiency. Her other copy of the gene carried another mutation, p.Glu227Gln, which has never been reported before.

To better understand the molecular basis for this patients unusually mild symptoms, the researchers conducted a series of tests to characterize this combination of mutations. The AADC enzyme normally functions as a dimer that is, two individual AADC enzymes join together to carry out the enzymes function.

The researchers found that when an AADC dimer contained two proteins both with the known disease-causing mutation p.Arg347Gln, the dimer had essentially no ability to function at all. By contrast, an AADC dimer with two enzymes carrying the novel p.Glu227Gln mutation had near-normal functionality. A dimer containing one enzyme with each mutation had about 75% of the activity of a normal AADC dimer.

Altogether these data suggest that these two mutations cause AADC deficiency that is characterized by comparatively high enzyme activity likely explaining why this patient had such mild symptoms.

After the diagnosis of AADC deficiency was confirmed, the patient was started on treatment with vitamin B6 (pyridoxine). She reported more energy and less fatigue after starting the treatment.

Interestingly, in the last few years, many previously undiagnosed or misdiagnosed patients have been identified as mild cases of AADC deficiency, expanding the phenotype [characteristics] of this neurotransmitter disease, the researchers wrote.

Read more:
Unusually mild case of AADC deficiency reveals new gene mutation - AADC News

Hereditary Genetic Testing Market Study on Investment Possibilities, Industry Share, and Trends through 2030  EIN News

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Hereditary Genetic Testing Market Study on Investment Possibilities, Industry Share, and Trends through 2030 - EIN News

People often turn to genetic testing to investigate possible health conditions that run in families or even explore their own family history and heritage.

With advancements in technology, genetic testing is becoming more precise and more affordable than before. This opens it up to a wider range of people seeking answers to questions about their health and family.

This article will describe the clinical and research purposes of genetic testing, the health conditions it may help detect, and what you may want to consider when talking with your healthcare team about this type of testing.

Genetic testing is a broad term used to describe a medical test that identifies changes in a DNA sequence or chromosomal structure.

Genetic testing can also measure results of gene changes, like an RNA analysis of a genes expression. It may analyze and measure the specific makeup of a certain gene, in order to help better identify the particular genetic makeup that might be shared with others or signal a possible health concern.

There are many uses for genetic testing. It can help people plan for the future by telling them the likelihood of developing a specific health condition.

It can also be used to help diagnose rare genetic conditions or to get information for better precision medicine when tailoring treatment options for an individual.

People may opt to have genetic testing done during pregnancy to rule out specific hereditary conditions, such as Down syndrome or potential problems with the unborn childs number of sex chromosomes.

According to the National Institutes of Health, genetic tests are available for many different genetic conditions.

Genetic testing can also be used to broadly trace ones ancestry and ethnicity or to provide information about biological parents and close relatives.

Clinical genetic testing aims to find out about any likelihood of an inherited genetic condition in a particular person and/or their family. These results are added to the medical record, and they can help inform people about the best course of treatment or prevention.

Research genetic testing, on the other hand, occurs when genetic testing is done on a person who volunteers for a clinical trial. The testing is done as part of a research study.

The outcomes of research-based genetic testing arent available to the participants or their doctors. The outcomes are also not added to anyones medical record, because theyre simply to help inform the research study.

People wont personally benefit from this type of genetic testing, and it cant be used to make individual diagnoses. But it does contribute to research.

Genetic testing isnt required during pregnancy. But many people opt for it to rule out any life threatening conditions to the fetus or other chromosomal conditions, such as Down syndrome, trisomy 18 (Edwards syndrome), or trisomy 13 (Patau syndrome).

There are certain factors that may increase someones likelihood to opt for genetic testing, including:

Advanced maternal age increases the likelihood that the fetus may have chromosomal irregularities, and having genetic testing on the fetus can rule those out.

Genetic testing is available for the following types of cancer:

Getting genetic testing for cancer can help you predict your risk of developing a certain type of cancer, but it doesnt predict that you will or wont develop any type of cancer.

It may, however, find out if you have genes that may pass an increased cancer risk onto your children (the BRCA gene for breast cancer, for example).

About 13% of women will develop breast cancer at some point in their lives, according to the American Cancer Society (ACS). By contrast, up to 72% who inherit the BRCA1 variant and as many as 69% of people who inherit the BRCA2 variant will develop breast cancer during their lifetime, according to a 2017 study.

Even someone who has a high likelihood of developing breast cancer if they have the BRCA1 or BRCA2 variant may never develop the disease. Also, someone who doesnt have these gene mutations may go on to develop breast cancer in their lifetime.

Having access to that information may help you make informed decisions about healthcare procedures and genetic testing to detect possible cancers.

Genetic testing cant detect or help diagnose all conditions, such as autism. However, genetic testing can be used to help predict or assess ones risk for many health issues, including conditions that newborns should be screened for. These conditions may include:

The following conditions can be genetically tested in utero:

While theres no genetic test for diabetes, children who have a sibling with type 1 diabetes may opt for an antibodies test that measures the antibody response to insulin, the islet cells in the pancreas, or to an enzyme called glutamic acid decarboxylase (GAD).

High levels indicate that a child has a higher likelihood of developing type 1 diabetes, but it doesnt guarantee that theyll develop type 1 diabetes.

Talk with your doctor if youre interested in getting genetic testing either for you or your children. If youre pregnant, you may want to opt for genetic testing for your baby, especially if any of the previously mentioned conditions run in your family.

Genetic testing can either be done at home with a saliva sample or in a laboratory, with a small blood sample.

In pregnant people, genetic testing is usually done via amniotic fluid through amniocentesis, or the placenta, through chorionic villus sampling (CVS).

Testing can also be done directly on the embryo during in vitro fertilization (IVF). Results can take a few weeks after samples are drawn.

You should consider genetic testing if theres a particular condition that runs in the family and you might be concerned about it materializing in your life.

Additionally, you may consider genetic testing if you want to learn what the risk is for a future pregnancy or to see if youre a carrier of a genetic condition (or if your child is a carrier or has a genetic condition themselves).

It can guide treatment and prevention planning for you and your family, especially when it comes to cancer.

People who are at higher risk for having a child with a genetic condition may opt for genetic testing. This includes:

People may also opt for genetic testing for simple peace of mind if their risk tolerance is low. Talk with your doctor or a genetic counselor if you want more information or if you feel that genetic testing is appropriate for you or your children.

Genetic testing is used for both research and clinical reasons, and it can be used to help trace family lineage as well as possible health conditions, including cancer.

While genetic testing isnt required during pregnancy, some people who are pregnant may consider it to evaluate the possible risk of health conditions that can be passed on to a child.

Read the original here:
Genetic Testing: What You Should Know - Healthline

What are DNA, genes and chromosomes?

Your body is made up of millions of tiny cells. Different types of cells form the different structures of the body, including skin, muscles, nerves and also organs such as the liver and kidneys.

This image was derived from Eukaryote DNA.svg, via Wikimedia Commons

In the centre (nucleus) of most cells in your body, the DNA molecule is packaged into thread-like structures called chromosomes. You have 46 chromosomes arranged in 23 pairs. These include one pair of sex chromosomes (either XX for females and XY for males). The other chromosomes that do not determine whether we are male or female are called autosomes. There are 22 pairs of autosomes (numbered 1 to 22). One chromosome from each pair comes from your mother and one from your father.

A gene is the basic unit of your genetic material. It is made up of a sequence (or piece) of DNA and sits at a particular place on a chromosome. So, a gene is a small section of a chromosome. Each gene controls a particular feature or has a particular function in your body. For example, dictating your eye colour or hair colour, making all the various proteins in your body, etc. Each gene is part of a pair. One gene from each pair is inherited from your mother, the other from your father. Each chromosome carries hundreds of genes. Humans have between 20,000 and 25,000 genes altogether. The total of all your genes is called your genome.

DNA stands for deoxyribonucleic acid. DNA forms your genetic material. Genes, which are made up of DNA, act as instructions to make proteins. In humans, genes vary in size from just a very small amount of DNA to very large amounts of DNA.

Proteins are large, complicated molecules that play many important roles in your body. They do most of the work in cells and are required for the structure, function and regulation of your body's tissues and organs.

As our cells are multiplying all the time, our genetic information needs to stay the same. Normally, there are excellent mechanisms in place to make sure each cell gets the exact same copy of DNA, the material that makes up our genes. However, sometimes the copying mechanism makes mistakes or other problems can occur with your genetic material. Problems and abnormalities in genes can lead to genetic diseases.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes or proteins. Gene tests look for abnormalities in DNA taken from a person's blood, body fluids or tissues. The tests can look for large mistakes such as a gene that has a section missing or added. Other tests look for small changes within the DNA. Other mistakes that can be found include genes that are too active, genes that are turned off, or those that are lost entirely.

Genetic tests examine a person's DNA in a variety of ways. They are all designed to identify differences between the gene being tested and what would be considered to be a normal version of the same gene.

There are different types of genetic testing which include:

These look at single genes or short lengths of DNA taken from a person's blood or other body fluids (for example, saliva) to identify large changes, such as:

An example of a genetic disorder that is tested in this way is cystic fibrosis.

However, there are limitations to genetic testing, as it is only useful if it is known that a specific genetic mutation causes a certain condition. A mutation or error in copying the DNA results in a permanent change to the DNA which can result in a number of diseases. For example, a specific gene mutation is known to cause Huntington's disease. It is therefore possible to test a blood sample for the presence or absence of this gene mutation. For many conditions - for example, diabetes - there may be any one of hundreds or even thousands of different possible mutations in a particular gene. This means genetic testing for those conditions is virtually impossible.

These look at the features of a person's chromosomes, including their structure, number and arrangement. Parts of a chromosme can be missing, be extra or even be moved to a different part on another chromosome.

There are different ways in which chromosome tests can be undertaken. These include:

Biochemical tests look at the amounts or activities of key proteins. As genes contain the DNA code for making proteins, abnormal amounts or activities of proteins can signal genes that are not working normally. These types of tests are often used for newborn baby screening. For example, biochemical screening can detect infants who have a condition affecting one of the many essential chemical reactions in the body (metabolic condition) such as phenylketonuria.

Genetic test results can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. More than 2,000 genetic tests are currently in use, and more are being developed all the time.

Genetic testing is performed in different ways including:

Newborn screening is done just after birth to identify genetic disorders that can be treated early in life. For example, every baby in the UK is tested for cystic fibrosis as part of the heel prick test.

Diagnostic testing is used to identify or rule out a specific genetic disorder if a baby or person has symptoms to suggest a certain genetic disorder (for example, Down's syndrome).

Carrier testing is used to identify people who carry one copy of a gene mutation (a genetic change) that, when present in two copies, causes a genetic disorder (for example, sickle cell disease). This type of test can be useful to provide information about a couple's risk of having a child with a genetic disorder.

Before birth (prenatal) testing is used to detect changes in an unborn baby's genes. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder. It cannot identify all possible inherited disorders and birth defects, however.

Pre-implantation genetic testing is available for couples who are at risk of having a child with a specific genetic or chromosome disorder, eg cystic fibrosis, sickle cell disease or Huntington's disease.

Egg cells are removed from the woman's ovaries and then fertilised with sperm cells outside the body. This is called in-vitro fertilisation (or IVF). The eggs are fertilised with sperm cells to form embryos. The fertilised embryos develop for three days and then one or two cells are removed from each embryo.

The genetic material (DNA and chromosomes) from the cells are tested for the known disorder in the family history. One or two of the unaffected embryos are then transferred into the mother's womb (uterus). If the pregnancy is successful, the baby will not be affected by the disorder it was tested for.

Predictive testing is used to detect genetic mutations associated with disorders that appear after birth, often later in life. These tests can be helpful to people who have a family member with a genetic disorder but who have no features of the disorder themselves at the time of testing (for example, breast cancer associated with the BRCA1 gene). Predictive testing can identify mutations that increase a person's risk of developing disorders with a genetic basis, such as certain types of cancer.

Testing can also determine whether a person will develop a genetic disorder, such as haemochromatosis, before any signs or symptoms appear. People in families at high risk for a genetic disease have to live with uncertainty about their future and their children's future.

A genetic test result showing a known gene mutation responsible for a certain disease as not being present in a person can provide a sense of relief. However a positive result may have a devastating effect on a person's life, especially if there is no known treatment.

However for some disorders a positive result may help you to consider options to prevent the disorder. For example, women with BRAC1 are at increased risk of breast cancer and may decide to have surgery to remove their breasts (mastectomy) or to take a medicine called tamoxifen to reduce the risk. See the separate leaflet on Breast Cancer for more information.

Therefore before having predictive testing it is essential for a specialist to carefully discuss with you your risks of being affected by the disorder, how the disorder would affect you and the benefits and risks of having a genetic test for the disorder. See the section on genetic counselling below.

Forensic testing uses DNA sequences to identify a person for legal purposes. Unlike the tests described above, forensic testing is not used to detect gene mutations associated with disease. This type of testing can also be used to work out the paternity of a child. Forensic testing can also be used for identifying human remains when identification is not possible by other means - for example, after a natural disaster such as a fire or tsunami.

Genetic testing usually involves taking a sample of blood or tissue. In adults and children this usually involves taking a blood sample from a vein. Some genetic tests can be done from samples of saliva or from taking a sample (swab) from the inside of your mouth.

In pregnancy, a sample may be taken from the baby by amniocentesis or chorionic villus sampling. In amniocentesis a sample of the liquid (amniotic fluid) that surrounds a baby is taken. It is done by putting a needle though the tummy (abdomen) into the womb (uterus). In chorionic villus testing a sample of part of the placenta is taken. This is either done by inserting a needle into the abdomen like in amniocentesis or by putting a thin tube into the neck of the womb (cervix). Both tests involve a very small risk that you may have a miscarriage as a result of having the test. If you are offered these tests, doctors will discuss the risks involved to help you to make a choice about whether to have the test or not.

In recent years the Harmony test has become available. This can be used during pregnancy and is done using a sample of the mother's blood, so there is no risk of miscarriage as there is with amniocentesis or chorionic villus sampling.

In newborns, routine screening for genetic disorder such as phenylketonuria happens as part of a baby's heel prick test when they around 5 days old.

After the sample has been taken it is sent to the laboratory for testing.

It may take anywhere from weeks to months for the results of all the tests to come back. This depends on the type of genetic test you've had. Your doctor should advise you how long the results will be.

A variety of genetic tests can be bought individually, many now over the Internet, which usually involve scaping the inside of your cheek to obtain some cells for testing. These are not recommended by doctors. Many test for genetic disorders for which there is no treatment, so they can heighten anxieties if you test positive for one of these disorders. They may also test for diseases that you may never actually develop in the future if you do not have other risk factors. For example, testing positive for the BRAC1 gene does not mean that you will definitely develop breast cancer in the future.

Before you undergo any of these tests, it may be worth asking yourself if you are prepared to make changes in your lifestyle, based on the test results. If you are not willing to take actions like stopping smoking or exercising more, such tests may not be of much benefit to you.

Many of these tests are also unreliable and can lead to very misleading results. If you would like to be tested for a genetic disorder then you should talk to your doctor about this in more detail.

The information obtained from genetic testing can have a profound impact on your life so you may be referred to a genetic counsellor Genetic counselling is available to anyone undergoing, or thinking of undergoing, any form of genetic testing. Genetic counselling is not a psychological therapy. It aims to provide you with all the information you need to make a decision about whether you should have a genetic test.

Genetic counselling may include information about:

The information is given in a way that will allow you to make your own decision. Only you can decide what is right for you. The counselling is essential to make sure you have all the important information you need to make the decision.

As they consider the options available to them, people are influenced by:

Post-test counselling is also available to help you deal with the results of the test.

More:
Genetic Testing: How It Works, Types, and Diagnosis | Patient

Genetic testing can give several possible results: positive, negative, true negative, uninformative negative, variant of uncertain significance, or benign (harmless) variant.

Positive result. A positive test result means that the laboratory found a genetic variant that is associated with an inherited cancer susceptibility syndrome. A positive result may:

Also, people who have a positive test result that indicates that they have an increased risk of developing cancer in the future may be able to take steps to lower their risk of developing cancer or to find cancer earlier, including:

Negative result. A negative test result means that the laboratory did not find the specific variant that the test was designed to detect. This result is most useful when a specific disease-causing variant is known to be present in a family. In such a case, a negative result can show that the tested family member has not inherited the variant that is present in their family and that this person therefore does not have the inherited cancer susceptibility syndrome tested for. Such a test result is called a true negative. A true negative result does not mean that there is no cancer risk, but rather that the risk is probably the same as the cancer risk in the general population.

When a person has a strong family history of cancer but the family has not been found to have a known variant associated with a hereditary cancer syndrome, a negative test result is classified as an uninformative negative (that is, it typically does not provide useful information).

In the case of a negative test result, it is important that the persons doctors and genetic counselors ensure that that person is receiving appropriate cancer screening based on that persons personal and family history and any other risk factors they may have. Even when the genetic testing is negative, some individuals may still benefit from increased cancer surveillance.

Variant of uncertain significance. If genetic testing shows a change that has not been previously associated with cancer, the persons test result may report a variant of uncertain significance, or VUS. This result may be interpreted as uncertain, which is to say that the information does not help to clarify their risk and is typically not considered in making health care decisions.

Some gene variants may be reclassified as researchers learn more about variants linked to cancer. Most often, variants that were initially classified as variants of uncertain significance are reclassified as being benign (not clinically important), but sometimes a VUS may eventually be found to be associated with increased risks for cancer. Therefore, it is important for the person who is tested to keep in touch with the provider who performed thegenetic testing to ensure that they receiveupdates if any new information on thevariant is learned.

Benign variant. If the test reveals a genetic change that is common in the general population among people without cancer, the change is called a benign variant. Everyone has commonly occurring benign variants that are not associated with any increased risk of disease.

Genetic test results are based on the best scientific information available at the time of the testing. While unfortunately no testing can be 100% error free, most genetic testing is quite accurate. However, it is very important to have thegenetic testing orderedby a provider knowledgeable in cancer genetics who can choose a reputable testing lab to ensure the most accurate test results possible.

Excerpt from:
Genetic Testing Fact Sheet - NCI - National Cancer Institute

When it comes to health and disease and, of course, many other aspects of life one thing is certain: genes matter. A single gene mutation can cause some conditions, such as sickle cell anemia and cystic fibrosis. More often, multiple genes are involved in disease development, and they act in concert with nongenetic factors, such as diet or exercise, to affect disease risk.

Several companies offer you the opportunity to look at your genes. But how might that help you from a health standpoint? And how do such tests differ from the genetic testing a doctor may recommend?

Consider the example of familial hypercholesterolemia (FH), a condition in which multiple variants of several different genes lead to markedly high cholesterol. This greatly increases the risk of heart attack, stroke, and other health problems. FH affects about one in 300 adults, which means it isnt rare. Among adults who have the most common genetic variants that cause it, heart attack or sudden cardiac death may occur in middle age. Children who have a double dose of a gene variant linked to this condition may die of cardiovascular disease before age 20. Earlier treatments intended to reduce the risk of complications, such as cholesterol-lowering drugs, are available if a child or adult is known to have a mutation linked to FH.

In recent years, theres been a dramatic increase in genetic testing. It was nearly unheard of only a few decades ago. Now, you or someone you know has likely had genetic testing within the last year or two.

And while healthcare providers can now order far more genetic tests for their patients than in the past, you dont need a doctors order to request this. 23andMe, Ancestry.com, and a number of other testing companies are ready and willing to check your genes for variants associated with certain health conditions, as well as your family ancestry. In fact, spending on direct-to-consumer genetic testing is predicted to reach $2.5 billion within the next few years.

For some people, the answer is clearly yes. When performed accurately, genetic tests can uncover a disease or a tendency to develop certain conditions, and it can lead to close relatives getting tested as well. Preventive measures or treatment can be lifesaving. Here are four examples (though there are many more).

In these cases, knowing you might develop a condition or are a carrier can help direct medical care, and may inform life decisions or encourage you or other family members to consider genetic counseling.

But the answer can also be no. Results of genetic testing may provide information you already know, may be unhelpful, or may even be misleading. For example, testing could reveal that you have a genetic mutation that rarely causes any health problems. Learning that you have this mutation may not help you though it might alarm you. Or, learning youre at increased risk for developing Alzheimers disease late in life may be more upsetting than useful, as there are currently no reliably effective preventive treatments.

Genetic testing may have more than one kind of cost. A genetic test ordered by your doctor for a specific medical reason may be covered by your health insurance, but its unlikely that an over-the-counter test will be. And, as one company states on its website, "knowing about genetic risks could affect your ability to get some kinds of insurance."

A 2021 study published in the medical journal JAMA Cardiology demonstrates how direct-to-consumer testing may be misleading.

The researchers looked at genetic testing for familial hypercholesteremia. They compared the results from a comprehensive panel of genetic testing ordered by doctors (which included more than 2,000 gene variants) with results from the more limited genetic testing (24 variants) provided by 23andMe.

Among more than 4,500 people tested for a medical reason, such as evaluating an unexpectedly high cholesterol level, the more limited testing would have missed important genetic variants for

This suggests that a large number of people would be falsely reassured by the results of their genetic tests for FH if they relied on the type of screening offered by a popular over-the-counter product. And results may be particularly unreliable among persons of color.

Its true that you cant pick your genes. But thanks to an ever-expanding menu of options, you can pick your tests. In many cases, its best to review your decision to have genetic testing with your doctor before having it done. You may choose to see a genetic counselor about the ramifications of testing before you jump in and let your doctor do the testing, rather than ordering it yourself. Or, you may decide the best plan is no testing at all.

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More:
Tempted to have genetic testing? First ask why - Harvard Health

OverviewWhat is genetic testing?

Genetic testing may also be called DNA testing. Its a type of test that can identify changes in the genes, chromosomes or proteins in your body. Genetic testing takes a sample of your blood, skin, hair, tissue or amniotic fluid. The test may be able to confirm or rule out if you have a genetic condition. It may also help determine your chances of developing or passing on a genetic disorder.

Genetic testing looks for changes in your genes, chromosomes and proteins. DNA tests can give you lots of information about the genes that make up who you are. They can confirm if you have or dont have a specific disease. They can determine if you have a higher risk of developing certain conditions. And they can find out if you carry a specific mutated gene that you can pass to your child.

The various types of genetic tests include tests that look at:

Mutations in the genes or chromosomes in your developing baby (fetus) can be detected through a prenatal DNA test while youre pregnant. Prenatal testing doesnt test for all possible conditions. But it can determine the chances of your baby being born with certain conditions that we know how to look for. If your baby has an increased risk of having a genetic condition because of the familys genetic history, your healthcare provider may recommend prenatal testing.

Diagnostic testing can confirm or rule out specific genetic diseases or chromosomal problems. But it doesnt test for all genetic conditions. Diagnostic genetic testing is often used during pregnancy, but it can be used at any time to confirm a diagnosis if you have symptoms of a certain disease.

If a condition is autosome recessive, it means that someone can carry a gene for that condition but not have symptoms. Carrier testing can tell you if you carry a copy of a mutated gene for an autosomal recessive disease. This is generally done because one parents family has a history of a disease that is passed on in an autosomal recessive way, which means that it takes a copy of the gene from each parent. So if one parent knows they carry an autosomal recessive gene, the other should be tested so they know the risk of passing that disease to their kids.

Preimplantation testing can find genetic mutations in the embryos that were made using assisted reproductive techniques (ART), like in-vitro fertilization (IVF). A small number of cells are taken from your embryos and tested for certain mutations. Only embryos without these mutations are implanted in your uterus to attempt to start a pregnancy.

Your newborn will be tested two days after theyre born. A newborn screening tests for certain genetic, metabolic or hormone-related conditions. Newborns are screened immediately after birth so treatment can start right away if needed. States decide which diseases to screen for, but in the United States, hospitals can screen for more than 35 conditions in newborns.

Gene mutations that increase your likelihood of developing a genetic condition later in life can sometimes be detected through predictive and pre-symptomatic testing by looking for changes in your genes that increase your risk of developing certain diseases. These include certain types of cancer such as breast cancer. Presymptomatic testing can tell whether youll develop a genetic disorder before youve developed any symptoms, but not with 100% certainty. There is always a chance for errors when this type of testing is done, so speak with your provider about this before you do it.

Its important to remember that while genetic testing can detect some conditions, it doesnt detect everything. In addition, a positive result doesnt necessarily mean youll develop a condition. But genetic testing can be useful to confirm or rule out many different diseases and conditions. These conditions include:

Your healthcare provider will collect a sample of your blood, hair, skin, tissue or amniotic fluid. Amniotic fluid is the fluid that surrounds your developing baby (fetus) during your pregnancy. Your healthcare provider will send the sample to a laboratory. At the lab, technicians will look for changes in your genes, chromosomes or proteins. The technicians send the test results to your healthcare provider.

The physical risks of most genetic tests are small. Prenatal testing does carry a small risk of losing your pregnancy (miscarriage). This is because the test requires a sample of amniotic fluid from around your developing baby.

The greater risks of genetic testing are emotional and financial. If you receive unexpected results, you may feel angry, scared, depressed, anxious or guilty. In addition, genetic testing can cost anywhere from hundreds to thousands of dollars. Insurance may cover the cost of genetic testing. But it often depends on the type of test and the reason for the test.

Also, genetic testing doesnt provide information about all possible genetic conditions and not all of them are 100% accurate. And they dont necessarily tell you about how severe symptoms may be or when a certain genetic condition may develop.

The results of your DNA test are not always straightforward. Your healthcare provider will use the type of DNA test, your medical history and your family history to interpret the results. Then theyll go over the specific results with you. The results may be any of the following:

Two measures of accuracy apply to genetic tests. Analytical validity looks at whether a DNA test can accurately detect whether a specific gene has a mutation or not. Clinical validity means if there is a mutation, is it related to a specific disease or condition. All labs that perform DNA tests are regulated by federal and/or state standards. The standards are designed to ensure the accuracy of genetic tests.

Some test results may only take a few days. Prenatal test results are usually returned very quickly. Other tests take several weeks to get the results back. Your healthcare provider will give you specific information regarding the timing of your test results.

You should try to find a provider or genetic counselor near you to perform DNA testing. They will order the correct tests and then talk to you about what they mean. But if you cant go through your healthcare provider, you can get a DNA test kit directly from a DNA testing company. These test kits are called direct-to-consumer (DTC) genetic tests. The best DNA test kits offer easy-to-understand information about the scientific basis of their tests, but it is risky to use them because there may not be anyone you can speak to personally about the results.

If you test positive for a genetic condition or find that you have a higher risk of developing a disease, you should call your healthcare provider. They can put you in touch with a genetic counselor who can evaluate you and the information you have and help you decide what to do next.

Scientists discovered a technique called Restriction Fragment Length Polymorphism (RFLP) analysis in the 1980s. This analysis became the first genetic test to use DNA. But in the 1990s, Polymerase Chain Reaction (PCR) DNA testing was introduced. This type of DNA testing replaced RFLP testing. The science of DNA testing is constantly changing.

A DNA paternity test can determine whether a person assigned male at birth is another persons biological father. You can determine whether someone could be the biological father of your baby or child through a DNA cheek swab or blood test. Paternity tests can also be done using a prenatal paternity test during pregnancy.

A note from Cleveland Clinic

DNA tests (genetic testing) can help you determine if you have a genetic condition or if youre more likely to develop one. Genetic testing may give you peace of mind, but it also comes with many risks and limitations. If youre interested in taking a genetic test, call your healthcare provider. They can refer you to a genetic counselor to give you more information about the process.

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DNA Test - Genetic Testing Overview - Cleveland Clinic

OverviewWhat are genetic disorders?

Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contain instructions for cell functioning and the characteristics that make you unique.

You receive half your genes from each biological parent and may inherit a gene mutation from one parent or both. Sometimes genes change due to issues within the DNA (mutations). This can raise your risk of having a genetic disorder. Some cause symptoms at birth, while others develop over time.

Genetic disorders can be:

There are many types. They include:

Chromosomal disorders

Multifactorial disorders

Monogenic disorders

Genetic disorders may also cause rare diseases. This group of conditions affects fewer than 200,000 people in the U.S. According to experts, there may be as many as 7,000 of these diseases.

Rare genetic disorders include:

To understand genetic disorder causes, its helpful to learn more about how your genes and DNA work. Most of the DNA in your genes instructs the body to make proteins. These proteins start complex cell interactions that help you stay healthy.

When a mutation occurs, it affects the genes protein-making instructions. There could be missing proteins. Or the ones you have do not function properly. Environmental factors (also called mutagens) that could lead to a genetic mutation include:

Symptoms vary depending on the type of disorder, organs affected and how severe it is. You may experience:

If you have a family history of a genetic disorder, you may wish to consider genetic counseling to see if genetic testing is appropriate for you. Lab tests can typically show whether you have gene mutations responsible for that condition. In many cases, carrying the mutation does not always mean youll end up with it. Genetic counselors can explain your risk and if there are steps you can take to protect your health.

If theres a family history, DNA testing for genetic disorders can be an important part of starting a family. Options include:

Most genetic disorders do not have a cure. Some have treatments that may slow disease progression or lessen their impact on your life. The type of treatment thats right for you depends on the type and severity of the disease. With others, we may not have treatment but we can provide medical surveillance to try to catch complications early.

You may need:

There is often little you can do to prevent a genetic disorder. But genetic counseling and testing can help you learn more about your risk. It can also let you know the likelihood of passing some disorders on to your children.

Some conditions, including certain rare and congenital diseases, have a grim prognosis. Children born with anencephaly typically survive only a few days. Other conditions, like an isolated cleft lip, do not affect lifespan. But you may need regular, specialized care to stay comfortable.

When you are living with a genetic disorder, you may have frequent medical needs. Its important to see a healthcare provider specializing in the condition. They are more likely to know which treatments are best for your needs.

You may also benefit from the support of others. Genetic disorders often have local or national support groups. These organizations can help you access resources that make life a little easier. They may also host events where you can meet other families going through similar challenges.

A note from Cleveland Clinic

Genetic disorders occur when a mutation affects your genes or chromosomes. Some disorders cause symptoms at birth, while others develop over time. Genetic testing can help you learn more about the likelihood of experiencing a genetic disorder. If you or a loved one have a genetic disorder, its important to seek care from an experienced specialist. You may be able to get additional information and help from support groups.

See the rest here:
Genetic Disorders: What Are They, Types, Symptoms & Causes

On This Page

Is cancer a genetic disease?

Genetic changes that cause cancer can be inherited or arise from certain environmental exposures. Genetic changes can also happen because of errors that occur as cells divide.

Credit: National Cancer Institute

Yes, cancer is a genetic disease. It is caused by changes in genes that control the way cells grow and multiply. Cells are the building blocks of your body. Each cell has a copy of your genes, which act like an instruction manual.

Genes are sections of DNA that carry instructions to make a protein or several proteins. Scientists have found hundreds of DNA and genetic changes (also called variants, mutations, or alterations) that help cancer form, grow, and spread.

Cancer-related genetic changes can occur because:

DNA changes, whether caused by a random mistake or by a carcinogen, can happen throughout our lives and even in the womb. While most genetic changes arent harmful on their own, an accumulation of genetic changes over many years can turn healthy cells into cancerous cells. The vast majority of cancers occur by chance as a result of this process over time.

Is cancer hereditary?

Determining breast cancer risk: The discovery of BRCA1 and BRCA2 gene mutations improved screening and treatment decisions for breast and ovarian cancers.

Cancer itself cant be passed down from parents to children. And genetic changes in tumor cells cant be passed down. But a genetic change that increases the risk of cancer can be passed down (inherited) if it is present in a parent's egg or sperm cells.

For example, if a parent passes a mutated BRCA1 or BRCA2 gene to their child, the child will have a much higher risk of developing breast and several other cancers.

Thats why cancer sometimes appears to run in families. Up to 10% of all cancers may be caused by inherited genetic changes.

Inheriting a cancer-related genetic change doesnt mean you will definitely get cancer. It means that your risk of getting cancer is increased.

What is a family cancer syndrome?

A family cancer syndrome,also called ahereditary cancer syndrome, is a rare disorder in which family members have a higher-than-average risk of developing a certain type or types of cancer. Family cancer syndromes are caused by inherited genetic variants in certain cancer-related genes.

With some family cancer syndromes, people tend to develop cancer at an early age or have other noncancer health conditions.

For example, familial adenomatous polyposis (FAP) is a family cancer syndrome caused by certain inherited changes in the APC gene. People with FAP have a very high chance of developing colorectal cancer at an early age and are also at risk of developing other kinds of cancer.

But not all cancers that appear to run in families are caused by family cancer syndromes. A shared environment or habits, such as exposure to air pollution or tobacco use, may cause the same kind of cancer to develop among family members.

Also, multiple family members may develop common cancers, such as prostate cancer, just by chance. Cancer can also run in a family if family members have a combination of many genetic variants that each have a very small cancer risk.

Should I get genetic testing for cancer risk?

Certain genetic tests can show if youve inherited a genetic change that increases your risk of cancer. This testing is usually done with a small sample of blood, but it can sometimes be done with saliva, cells from inside the cheek, or skin cells.

Genetic tests can help families with a history of breast and ovarian cancer make screening and treatment decisions.

Not everyone needs to get genetic testing for cancer risk. Your doctor or health care provider can help you decide if you should get tested for genetic changes that increase cancer risk. They will likely ask if you have certain patterns in your personal or family medical history, such as cancer at an unusually young age or several relatives with the same kind of cancer.

If your doctor recommends genetic testing, talking with a genetic counselor can help you consider the potential risks, benefits, and drawbacks of genetic testing in your situation. After testing, a genetic counselor, doctor, or other health care professional trained in genetics can help you understand what the test results mean for you and for your family members.

Although its possible to order an at-home genetic test on your own, these tests have many drawbacks and are not generally recommended as a way to see whether you have inherited a genetic change that increases cancer risk.

For more information on what tests are available and who may want to consider them, see Genetic Testing for Inherited Cancer Susceptibility Syndromes.

How can I find out what genetic changes are in my cancer?

If you have cancer, a different type of genetic test called a biomarker test can identify genetic changes that may be driving the growth of your cancer. This information can help your doctors decide which therapy might work best for you or if you may be able to enroll in a particular clinical trial. For more information, see Biomarker Testing for Cancer Treatment. Biomarker testing may also be called tumor profiling or molecular profiling.

Biomarker testing is different from the genetic testing that is used to find out if you have an inherited genetic change that makes you more likely to get cancer. Biomarker testing is done using a sample of your cancer cellseither a small piece of a tumor or a sample of your blood.

In some cases, the results of a biomarker test might suggest that you have an inherited mutation that increases cancer risk. If that happens, you may need to get another genetic test to confirm whether you truly have an inherited mutation that increases cancer risk.

Who can see my genetic test results?

Your genetic counselor, doctors, and other health care professionals might see your genetic test results. In addition, your health insurance company has legitimate, legal access to your medical records.

Legal protections prevent discrimination on the basis of genetic test results, including the Genetic Information Nondiscrimination Act of 2008(GINA) and the Privacy Rule of the Health Information Portability and Accountability Act of 1996 (HIPAA).

How do genetic changes cause cancer?

Genetic changes can lead to cancer if they alter the way your cells grow and spread. Most cancer-causing DNA changes occur in genes, which are sections of DNA that carry the instructions to make proteins or specialized RNA such as microRNA.

For example, some DNA changes raise the levels of proteins that tell cells to keep growing. Other DNA changes lower the levels of proteins that tell cells when to stop growing. And some DNA changes stop proteins that tell cells to self-destruct when they are damaged.

For a healthy cell to turn cancerous, scientists think that more than one DNA change has to occur. People who have inherited a cancer-related genetic change need fewer additional changes to develop cancer. However, they may never develop these changes or get cancer.

As cancer cells divide, they acquire more DNA changes over time. Two cancer cells in the same tumor can have different DNA changes. In addition, every person with cancer has a unique combination of DNA changes in their cancer.

For more information on the biological changes that make cells cancerous, see What is Cancer? Differences between Cancer Cells and Normal Cells.

What kinds of genetic changes cause cancer?

Fusion proteins, which can occur when parts of different chromosomal regions are joined, may drive the development of many cancers in children.

Credit: Shannon McArdel, Ph.D. Harvard University SITN Blog, June 2017. CC BY-NC-SA 4.0.

Multiple kinds of genetic changes can lead to cancer. One genetic change, called a DNA mutation or genetic variant, is a change in the DNA code, like a typo in the sequence of DNA letters.

Some variants affect just one DNA letter, called a nucleotide. A nucleotide may be missing, or it may be replaced by another nucleotide. These are called point mutations.

For example, around 5% of people with cancer have a point mutation in the KRAS gene that replaces the DNA letter G with A. This single letter change creates an abnormal KRAS protein that constantly tells cells to grow.

Cancer-causing genetic changes can also occur when segments of DNAsometimes very large onesare rearranged, deleted, or copied. These are called chromosomal rearrangements.

For example, most chronic myelogenous leukemias (a type of blood cancer) are caused by a chromosomal rearrangement that places part of the BCR gene next to the ABL gene. This rearrangement creates an abnormal protein, called BCR-ABL, that makes leukemia cells grow out of control.

Some cancer-causing DNA changes occur outside genes, in sections of DNA that act like on or off switches for nearby genes. For example, some brain cancer cells have multiple copies of on switches next to genes that drive cell growth.

Other DNA changes, known as epigenetic changes, can also cause cancer. Unlike genetic variants, epigenetic changes (sometimes called epimutations) may be reversible and they dont affect the DNA code. Instead, epigenetic changes affect how DNA is packed into the nucleus. By changing how DNA is packaged, epigenetic changes can alter how much protein a gene makes.

Some substances and chemicals in the environment that cause genetic changes can also cause epigenetic changes, such as tobacco smoke, heavy metals like cadmium, and viruses like Epstein-Barr virus.

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The Genetics of Cancer - NCI

What is genetic testing?

Genetic testing is the use of medical tests to look for certain mutations (changes) in a persons genes. Many types of genetic tests are used today, and more are being developed.

Genetic testing can be used in many ways, but here well focus on how it is used to look for gene changes that are linked to cancer. (To learn about the role of genes and how mutations can lead to cancer, seeGenes and Cancer.)

Predictive genetic testing is a type of testing used to look for inherited gene mutations that might put a person at higher risk of getting certain kinds of cancer. This type of testing might be suggested for:

Most people (even people with cancer) do not need this type of genetic testing. Its usually done when family history suggests that a cancer may be inherited (see below) or if cancer is diagnosed at an uncommonly young age.

Genetic counseling and testing may be recommended for people who have hadcertain cancers or certain patterns of cancer in their family. If you have any of the following, you might consider talking to a genetic counselor about genetic testing:

If you are concerned about a pattern of cancer in your family, cancer youve had in the past, or other cancer risk factors, you may want to talk to a health care provider about whether genetic counseling and testing might be a good option for you.

You need to know your family history and what kinds of tests are available. For some types of cancer, no known mutations have been linked to an increased risk.

For more information on the types of cancer that may be linked to inherited genes,see Family Cancer Syndromes.

Genetic counseling gives you information that you and your family can use to make decisions about whether to get genetic testing (see below).

Genetic counselors have special training in the field of genetic counseling. Most are board-certified, and some might have a license depending on the rules in their state. Some doctors, advanced practice oncology nurses, social workers, and other health professionals may also provide genetic counseling, although they might have different levels of training in this field. If you are offered genetic counseling, its fair to ask about their training in this area.

Before and after genetic testing, genetic counseling can help you understand what your test results might mean, your risk of developing cancer, and what you can do about this risk. It is your decision to have testing and what steps you take after.

Its important to find out how useful genetic testing might be for you before you do it. Talk to your health care provider and plan on getting genetic counseling before the actual test. This will help you know what to expect. Yourcounselor can also tell you about the risks and benefits of the test, what the results might mean, and what your options are.

Your health care provider can refer you to a genetic counselor in your area, or you can find a list of certified genetic counselors on the website of the National Society of Genetic Counselors.

To learn more, see What Should I Know Before Getting Genetic Testing?

Sometimes after a person has been diagnosed with cancer, the doctor will order tests on a sample of cancer cells to look for certain gene or protein changes. These tests can sometimes give information on a persons outlook (prognosis), and they might also help tell if certain types of treatment may be useful.

These types of tests look for acquired gene changesonlyin the cancer cells. These tests are not the same as the tests used to find out about inherited cancer risk.

For more about this kind of testing and its use in cancer treatment, see Biomarker Tests and Cancer Treatment.

Some tests that look for gene changes can be bought without needing a doctors order. For this type of testing, you purchase a test kit and send a sample of your DNA (often from saliva) to a lab for testing.

If you are considering using a home-based genetic test (also known as a direct-to-consumer genetic test), you need to know what its testing for, what it can (and cant) tell you, and how reliable the test is.

Home-based tests do not provide information on a persons overall risk of developing any type of cancer. Sometimes these tests can sound much more helpful and certain than they have been proven to be. It may sound like the test will provide an answer to your specific health concern, such as your risk of hereditary cancer, but the test may not be able to answer that question completely. For example, a test may look for mutations in a certain gene, but it might not test for all of the possible mutations. So a negative test result, even if accurate, may miss the bigger picture regarding your cancer risk and what you can do to manage it. And you might not be provided with the important context about the test results that a genetic counselor could provide.

Home-based genetic tests should not be used instead ofcancer screeningorgenetic counselingthat may be recommended by a medical professional based on your individual risk for cancer.Always consult with your doctor if you are considering or have questions aboutgenetic testing. Trained genetic counselors can help you know whatto expect from your test results.

Link:
Understanding Genetic Testing for Cancer Risk

Amniocentesis: A procedure in which amniotic fluid and cells are taken from the uterus for testing. The procedure uses a needle to withdraw fluid and cells from the sac that holds the fetus.

Amniotic Fluid: Fluid in the sac that holds the fetus.

Aneuploidy: Having an abnormal number of chromosomes.

Cells: The smallest units of a structure in the body. Cells are the building blocks for all parts of the body.

Chorionic Villus Sampling (CVS): A procedure in which a small sample of cells is taken from the placenta and tested.

Chromosomes: Structures that are located inside each cell in the body. They contain the genes that determine a person's physical makeup.

Cystic Fibrosis: An inherited disorder that causes problems with breathing and digestion.

Diagnostic Tests: Tests that look for a disease or cause of a disease.

DNA: The genetic material that is passed down from parent to child. DNA is packaged in structures called chromosomes.

Embryo: The stage of development that starts at fertilization (joining of an egg and sperm) and lasts up to 8 weeks.

Fetus: The stage of human development beyond 8 completed weeks after fertilization.

Fluorescence In Situ Hybridization (FISH): A screening test for common chromosome problems. The test is done using a tissue sample from an amniocentesis or chorionic villus test.

Genes: Segments of DNA that contain instructions for the development of a person's physical traits and control of the processes in the body. The gene is the basic unit of heredity and can be passed from parent to child.

Genetic Counselor: A health care professional with special training in genetics who can provide expert advice about genetic disorders and prenatal testing.

Genetic Disorders: Disorders caused by a change in genes or chromosomes.

Hospice Care: Care that focuses on comfort for people who have an illness that will lead to death.

In Vitro Fertilization (IVF): A procedure in which an egg is removed from a woman's ovary, fertilized in a laboratory with the man's sperm, and then transferred to the woman's uterus to achieve a pregnancy.

Karyotype: An image of a person's chromosomes, arranged in order of size.

Microarray: A technology that examines all of a person's genes to look for certain genetic disorders or abnormalities. Microarray technology can find very small genetic changes that can be missed by the routine genetic tests.

Monosomy: A condition in which there is a missing chromosome.

Mutations: Changes in a gene that can be passed on from parent to child.

ObstetricianGynecologist (Ob-Gyn): A doctor with special training and education in women's health.

Placenta: An organ that provides nutrients to and takes waste away from the fetus.

Preimplantation Genetic Diagnosis: A type of genetic testing that can be done during in vitro fertilization. Tests are done on the fertilized egg before it is transferred to the uterus.

Screening Tests: Tests that look for possible signs of disease in people who do not have signs or symptoms.

Sickle Cell Disease: An inherited disorder in which red blood cells have a crescent shape, which causes chronic anemia and episodes of pain.

TaySachs Disease: An inherited disorder that causes intellectual disability, blindness, seizures, and death, usually by age 5.

Trisomy: A condition in which there is an extra chromosome.

Ultrasound Exam: A test in which sound waves are used to examine inner parts of the body. During pregnancy, ultrasound can be used to check the fetus.

Uterus: A muscular organ in the female pelvis. During pregnancy, this organ holds and nourishes the fetus. Also called the womb.

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Prenatal Genetic Diagnostic Tests | ACOG

Continuing Education Activity

DiGeorge syndrome (DGS) is a congenital disorder with a broad phenotypic presentation, which results predominantly from the microdeletion of chromosome 22 at a location known as 22q11.2. This mutation results in the failure of appropriate development of the pharyngeal pouches, which are responsible for the embryologic development of the middle and external ear, maxilla, mandible, palatine tonsils, thyroid, parathyroids, thymus, aortic arch, and cardiac outflow tract. Features of DGS include cardiac anomalies, recurrent infections, abnormal facies, thymic hypoplasia or aplasia, cleft palate, developmental delay, and hypocalcemia. This activity outlines the diagnosis, evaluation, treatment, and management of patients with DGS, and highlights the role of the interprofessional team in managing patients with this condition.

Objectives:

Summarize the etiology of DiGeorge syndrome and its broad phenotypic presentation.

Review the evaluation of patients with DiGeorge syndrome.

Explain the treatment and management options available for DiGeorge syndrome.

Outline interprofessional team strategies for improving care coordination and communication to advance the care of patients with DiGeorge syndrome and improve outcomes.

DiGeorge Syndrome (DGS) is a combination of signs and symptoms caused bydefects in the development of structures derived from the pharyngeal archesduring embryogenesis. Features of DGSwere first described in 1828 but properly reported by Dr. Angelo DiGeorge in 1965, as a clinical trialthat included immunodeficiency, hypoparathyroidism, and congenital heart disease.[1]

DGS is one of several syndromes that has historically grouped under a bigger umbrella called 22q11 deletion syndromes, which include Shprintzen-Goldberg syndrome, velocardiofacial syndrome, Cayler cardiofacial syndrome, Sedlackova syndrome, conotruncal anomaly face syndrome, and DGS.Although the genetic etiology of these syndromes may be the same, varying phenotypeshas supported the use of different nomenclature in the past, which has led to confusion in diagnosing patients with DGS, which causes potentially catastrophic delays in diagnosis.[2] Current literature supports the use of the names of these syndromes interchangeably.

Features ofDGSincludean absent or hypoplastic thymus, cardiac abnormalities, hypocalcemia, and parathyroid hypoplasia (See "History and Physical" below). Perhaps, the most concerning characteristic of DGS is the lack of thymic tissue, becausethisis the organ responsible for T lymphocyte development.A complete absence of the thymus, though very rare and affecting less than 1% of patients with DGS, is associated with a form of severe combined immunodeficiency (SCID).T-cells are a differentiated type of white blood cellspecializingin certain immune functions: destroying cells that are infected or malignant,existing as an integralpart of the innate immune system by killing viruses (e.g., Killer T-cells), helping B-cells matureto produce immunoglobulins for strongeradaptive immunity (e.g. helper T-cells), etc. The degree of immunodeficiency of patients with DGS can present differently depending onthe extent of thymic hypoplasia.

Somepatients may have a mild to moderate immune deficiency, and the majority of patients have cardiac anomalies.Other features include palatal, renal, ocular, and gastrointestinal anomalies. Skeletal defects, psychiatric disease, and developmental delay are also of concern. There are different opinions about syndrome-related alterations in cognitive development, and a cognitive decline rather than an early onset intellectual disability is observable.[3] The particularities of the clinical presentation requires observation on an individual basis, with careful evaluation and interprofessional treatment throughout the patient's life.

About 90% of DGS cases are a result of a deletion in chromosome 22, more specifically on the long arm (q) at the 11.2 locus (22q11.2). Most of these mutations arise de novo with no genetic abnormalities noted in the genome of the parents of children with DGS.[1] Researchers have identified over 90 different genes at this locus, some of which they have studied in mouse models.The most studied of these genes isT-box transcription factor 1 (TBX1), which correlates with severe defects in the development of the heart, thymus, and parathyroid glands of mouse models. TBX1 also correlates with neuromicrovascular anomalies, which may be responsible for the behavioral and developmental abnormalities seen in DGS.[4][5]

Microdeletion of 22q11.2 is the most common microdeletion syndrome, affecting approximately 0.1% of fetuses.[6]The rate of 22q11.2 microdeletion in live births occurs at an estimated rate of 1 in 4000 to 6000.[1][7] There are several explanations for the variance in fetal versus live birth prevalence. Firstly, current evidence may not comprise a large enough population. Secondly, 22q11.2 microdeletions may produceembryonically lethal phenotypes, which was observable in animal studies.

The prevalence of 22q11.2 microdeletion may be more common than supported in literature due to several factors. Firstly, not every patient with this microdeletion presents with several craniofacial abnormalities and hence does notundergo genetic testing. African-American children, for example, may not have the craniofacial abnormalities characteristic of DGS in other races. Secondly, access to healthcare, specifically genetic testing, is not available to every individual that might have the microdeletion, regardless of the severity of craniofacial dysmorphism. Further population studies are therefore needed to fully understand the extent and spectrum of 22q11.2 microdeletions in different populations.[8]

DGS results from microdeletion of 22q11.2, which encodes over 90 genes. Patients with DGS display a broad array of phenotypes, and the most common findings include cardiac anomalies, hypocalcemia, and hypoplastic thymus.

On a genetic basis, TBX1 has correlations with the most prominent phenotypes characteristic of DGS. Failure in embryologic developmentof the pharyngeal pouches, which is driven by TBX1, leads to absence or hypoplasia of the thymus and parathyroid glands.Mouse and zebrafishTBX1 knockout models have been studied to understand the embryologic basis of this disease. In mice, for instance, the absence of TBX1 causes severe pharyngeal, cardiac, thymic, and parathyroid defects as well as a behavioral disturbance.[9]Moreover, zebrafish knockouts have demonstrated defects in the thymus and pharyngeal arches as well as malformation of the ears and thymus.[10]

A 22q11.2 knockout mouse model has also been studied, with findings pertinent for molecular and behavioral changes seen in Parkinson's disease, autism spectrum disorder, attention deficit hyperactivity disorder, and schizophrenia.[11][12]These findings, as well as the neuromicrovascular pathology found in TBX1 knockout mice, suggest a molecular basis for the psychiatric pathologies associated with DGS.[4][5]Of note, individuals affected bythissyndrome have a 30-fold increased risk of developing schizophrenia.

A detailed history and physical is vital in the diagnosis and assessment of DiGeorge syndrome. A broad spectrum of disease severity exists, and suspicion of DGS from history and physical can prompt further evaluation. Although most cases get diagnosed in theprenatal and pediatric periods, diagnosis can also occur in adulthood.Delay in motor development is a common presenting feature first recognized by parentswho notice delays in rolling over, sitting up, or other infant milestones.[13]These findings can be associated with delayed speech developmentand learning disabilities. Later in life, abnormal behavior in the setting of poor developmental history may be thechief presenting symptom of DGS.[1]

A detailed history mayrevealthefollowing:

Family history of diagnosed or suspected DGS

Abnormalgenetic testing results of family members

Delays in the achievement of developmental milestones

Behavioral disturbance

Cyanosis, exercise intolerance, or symptoms

Recurrent infections secondary to T-cell deficiency

Speech difficulty

Difficulty feeding and/or failure to thrive

Muscle spasms, twitching, tetany, seizure

An examination can reveal findings consistent with severalfeatures of DGS:

A complete cardiopulmonary evaluation can reveal murmurs, cyanosis, clubbing, or edema consistent withaortic arch anomalies, conotruncal defects (e.g., tetralogy of Fallot, truncus arteriosus, pulmonary atresia with ventricular septal defect, transposition of the great vessels, interrupted aortic arch), or tricuspid atresia.

A craniofacial examination may demonstrate abnormalities such as cleft palate, hypertelorism, ear anomalies, short down slanting palpebral fissures, short philtrum, and hypoplasia of the maxilla or mandible.

Recurrent sinopulmonary infections due to T cell deficiency as a result of thymic hypoplasia

Signs of hypocalcemia, including twitching and muscle spasm, may be evident as a result of parathyroid hypoplasia. Chvostek's and Trousseau's signs may be positive.

Delayed development, unusual behavior, or signs of psychiatric disorders may be observable.

A clinician makes a definitive diagnosis of DGS in individuals with amicrodeletion of chromosome 22 at the 22q11.2 locus. Classic evaluations of genetic abnormalities, such as trisomies, including the Giemsa banding technique, are incapable of revealing microdeletions. Microdeletions responsible for DGS are therefore detected by fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA),single nucleotide polymorphism (SNP) array, comparative genomic hybridization (CGH) microarray, or quantitative polymerase chain reaction (qPCR). The availability and cost of these techniques can delay diagnosis, particularly in resource-poor settings.

Patients diagnosed with or suspected of having DGS should undergo extensive evaluation, particularly if life-threatening cardiac or immunologic deficits are present. The following testsshould merit consideration:

Echocardiogram to evaluateconotruncal abnormalities

Complete blood count with differential

T and B Lymphocyte subset panels

Flow cytometry to assess T cell repertoire

Immunoglobulin levels

Vaccine titers for evaluation of response to vaccines

Serum ionized calcium and phosphorus levels

Parathyroid hormone level

Chest x-ray for thymic shadow evaluation

Renal ultrasound for possible renal and genitourinary defects

Serum creatinine

TSH

Testing for growth hormone deficiency

It is important to note that the broad spectrum of disease severity makesthe evaluationofDGS particularlychallenging. Cases involving significant cardiac, thymic, and craniofacial deficits are more easily recognizable than those lacking severe features. Implementation of advancing genomic studies and facial recognition technology in modern medicinemay assist in more effective diagnosis and evaluation of DGS patients.[14]

Treatment and management of DGS require intensive interprofessional care:

Fortunately, many patients with DGS have minor immunodeficiency, with preservation of T cell function despite decreased T cell production. Frequent follow-up with an immunologist experienced in treating primary immunodeficiencies is advisable. Immunodeficiency in neonates with complete DGS (cDGS) requires management with isolation, intravenous IgG,antibioticprophylaxis, and either thymic or hematopoietic cell transplant (HSCT).

Cardiac anomalies, if not diagnosed during the fetal ultrasound, may present shortly after birth as life-threatening cyanotic heart disease. Pediatric cardiothoracic surgery evaluation may be urgently required. Blood products, if necessary, should be irradiated, CMV negative, and leukocyte reduced to prevent transfusion-associated graft-versus-host disease. These measures also aim to reduce lung injury, particularly in surgical cases requiring cardiopulmonary bypass.

Cleft palate cases require evaluation by an otolaryngologist, plastic surgeon, or oral & maxillofacial surgeon with experience in surgical correction of palatal defects. Repair ofa cleft palate can improve feeding ability, speech, and reduce the incidence of sinopulmonary infections.

Hypocalcemia is manageable with calcium and vitamin D supplementation. Recombinant human PTH is an option in DGS patients refractory to standard therapy.

Autoimmune diseases are common in DGS patients, includingimmune thrombocytopenia(ITP), rheumatoid arthritis, autoimmune hemolytic anemia, Graves disease, and Hashimoto thyroiditis. DGS patientsshould be evaluated carefully for autoimmune symptoms regularly.

Audiologic evaluationis necessary for DGS patients experiencing difficulty with hearing. Children too young to express difficulty with hearing need assessment, particularly with a delay in cognitive and behavioral development.

Early intervention services arebeneficial for children with impaired cognitive and behavioral development.

Speech therapy isnecessary for difficulty with language secondary to craniofacial anomalies and/or cognitive impairment.

Genetic counseling is a reasonable consideration for parents of a child with DGS who desire more children, as well as for patients with DGS who may want to become parents. If a parent has the same mutation as an affected child, there is a 50% chance a new baby will also have DGS.

Advanced approaches for the management of children withcomplete DiGeorge anomaly

In the cDGS featuring no thymus function andbone marrow stem cells can not develop into T cells, childrenusually die by age 2 years due to severe infections. In this setting, the proposal is to T cellreplete HSCT. Nevertheless, because of the absence of thymus, thisstrategy can only obtain engraftment of post thymic T cells.[17]A multicenter survey on the outcome of HSCT showed a survival rate of 33% after matched unrelated donors and 60% in the case of matched sibling transplantations.[18] Recently, the FDA approved the thymus transplantation as standard care. This approach focuses on producingnaive T cellswith a broad T-cell receptor set. The procedure takes place using general anesthesia, and thymus tissue usually gets transplanted into the recipient subject's quadriceps. Studies indicateup to 75% of long-term survival but have described frequent autoimmune sequelae (e.g., autoimmune hemolysis, thyroiditis, thrombocytopenia, enteropathy, and neutropenia) in survivors.[19]

All patient findings that are part ofDiGeorge syndrome can also be present as isolatedanomalies in an otherwise normal individual.

The following conditions present with overlapping features:

Smith-Lemli-Opitz syndrome - (polydactyly and cleft palate are common findings).

Oculo-auriculo vertebral (Goldenhar) syndrome (OAVS) - (ear anomalies, heart disease, vertebral defects,and renalanomalies are present). OAVS often demonstrates a sporadic presentation.

Alagille syndrome - (butterfly vertebrae,congenital heart disease, and posterior embryotoxon arecommon to both conditions).

VATER association (heart disease, vertebral, renal, and limb anomalies present in both conditions). VATER association is a diagnosis of exclusion for which an established etiology to date remains unknown.

CHARGE syndrome - (any combination ofcongenital heart disease, palatal differences, atresia choanae, coloboma, renal, growth deficiency, ear anomalies/hearing loss, facial palsy, developmental differences,genitourinary anomalies, and immunodeficiency are present in both syndromes).

Genetic consult is essential along with the complete clinical picture to make an accurate diagnosis of DiGeorge syndrome.

Less than 1% of patients with 22q11.2 microdeletion have complete DGS, the most severe subtype of DGS with a very poor prognosis. Without thymic or hematopoietic cell transplantation, these patients die by 12 months of age. Even with a transplant, however, prognosis remains poor. In a study of 50 infants who received a thymic transplant for complete DGS, only 36 survived to two years.[20]

Patients with partial DGS do not have a defined prognosis, as this depends on the severity of the pathologies associated with the disease. While some do not survive infancy due to severe cardiac anomalies, many survive into adulthood. DGS may be vastly underdiagnosed, and many undiagnosed adults with DGS thrive in the community with undetectable congenital anomalies and minor intellectual and/or social impairment. Improvements in genetic diagnostics will hopefully improve understanding of DGS in the future.

Cardiac and craniofacial anomalies associated with DGS may require surgical repair. As with any surgical procedure, the possibility of complications, including bleeding, infection, and prolonged hospitalization, exists. These risks are particularly dangerous for DGS patients with significant immunocompromise.

Consistent follow-up of patients with DGS is necessary to evaluate for possiblecomplications: severe recurrent infections, autoimmune diseases, and hematologic malignancies.

Parents of children with DGS should receive patient education as it pertains to the severity of their child's condition. Discussion topics may include the following:

Early signs and symptoms of infection

Signs of hypocalcemia

Safe use of medications

Surgical intervention options

Immune therapy options

Genetic counseling

Speech therapy for feeding or language difficulty

Developmental milestones and warning signs of developmental delay

Benefits of early intervention programs

Signs and symptoms of psychiatric disorders

DiGeorge syndrome is easy to remember using the "CATCH-22" mnemonic:

Conotruncal cardiac anomalies

Abnormal facies

Thymic hypoplasia

Cleft palate

Hypocalcemia

22q11.2 microdeletion

Management of DGS requires an interprofessional approach by a team of healthcare professionals. Obstetricians and genetic counselors can assist in diagnosis and management prenatally. Neonatologists, primary care pediatricians, family medicine physicians, immunologists, cardiothoracic surgeons, pediatricians, craniofacial surgeons, and othermedical specialties may be involved in the care of patients with DGS. Collaboration with nurses, pharmacists, psychologists, speech therapists, and other healthcare professionals is paramount. Pharmacists can verify agent selection and dosing with medications to address the endocrine aspects of the disease. Nursing can counsel parents and monitor treatment progress. Psychological professionals can assist with developmental difficulties, as well as work with family members. Patients with DGS require lifelong, consistent follow-up. Because numerous organs are involved, close follow up with each specialist is necessary. Open communication and collaboration between all members of the interprofessional healthcare team are vital to ensure good outcomes. [Level 5]

Diagnosis and management can be challenging, and the interprofessional team can provide a collaborative effort to reduce morbidity and mortality associated with DGS. Current evidence regarding the management of DGS reflects level 5 evidence, and treatment options require a tailored approach around the individual patient's disease manifestations.

DiGeorge syndrome. Contributed by Professor Victor Grech (CC By=S.A. 3.0 https://creativecommons.org/licenses/by-sa/3.0/) Image courtesy: https://en.wikipedia.org/wiki/DiGeorge_syndrome#/media/File:DiGeorge_syndrome1.jpg

DiGeorge syndrome karyotype. Image courtesy O Chaigasame

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DiGeorge Syndrome - StatPearls - NCBI Bookshelf

SOUTH SAN FRANCISCO, Calif. & ST. LOUIS--(BUSINESS WIRE)--Genome Medical, the leading telehealth provider of genetic services and genomics-based care, and Pierian, the global leader in advanced clinical genomics technology and services, announced a collaboration designed to streamline and optimize onsite genomics programs for health care organizations and provider groups. The companies services, when combined with genomic testing capabilities, create an end-to-end patient and clinician experience that elevates standards of care and patient outcomes.

Genome Medical and Pierian are working together to efficiently identify patients who may benefit from genomic testing and an enhanced clinical genomics workflow. The combined solution for clinicians facilitates the ordering of appropriate testing which is then processed in onsite laboratories supported by Pierian.

First, through its RISE Patient Engagement Modules, Genome Medical helps clinicians Reach, Inform, Support and Educate patients. RISE includes a Hereditary Cancer Risk Assessment Module that collects and analyzes family and personal health history to determine if a patient meets genetic testing criteria for hereditary cancer. When criteria is met and testing is ordered, laboratory customers utilize Pierians advanced technology platform to ingest, analyze, interpret and report on genomic insights for more precise care.

For physician-owned or -managed service organizations, Pierian and Genome Medical deliver a streamlined path to in-house, high-quality precision medicine programs that provide recommended and appropriate care to all patients who meet national standards for genomic testing. This can also include virtual post-test genetic counseling from Genome Medicals nationwide team to help explain the test findings and advise on recommended follow-on care, if needed.

We are excited to partner with a like minded innovator, Genome Medical, to combine our leading edge platforms and expertise to enable the clinicians we are privileged to serve, said Mark McDonough, CEO of Pierian. At Pierian, we are passionately committed to catalyzing precision medicine at scale through our tools, our team, our customers, and our partners like Genome Medical. We are united in our belief that all patients deserve access to high quality, affordable, genetic testing.

Genome Medical has pioneered a virtual model of tech-enabled care delivery and assembled an unmatched team of genetic specialists, enabling rapid, efficient access to genetic counseling and related services. The company offers flexible genetic services programs to approximately 100 partners, including health systems, diagnostic testing labs, insurers, and other partners. In addition, its services are a covered, in-network benefit for more than 160 million people in the U.S.

Genome Medical is pleased to be able to partner with Pierian to bring our patient screening and clinical genetic services to provider groups who are looking to improve and expand their genomic testing programs, said Jill Davies, CEO of Genome Medical. This collaboration represents two industry leaders delivering the services and tools that will make in-house genomic testing programs accessible to a wider array of providers and patients.

Pierian partners with academic centers, health systems, physician-owned laboratories and reference laboratories worldwide to establish high-quality clinical genomics programs and a global sharing network. With advanced interpretation technology connected to the most comprehensive knowledge base, Pierians unique, adaptive learning algorithms make intelligent associations between comprehensive datasets and individual patient results. Post analysis and interpretation, clinical reports are easy to generate, which empowers clinicians with genomic insights to fulfill the promise of precision care.

About Genome Medical

Genome Medical, the leading genomic care delivery company, is personalizing health care for all through on-demand access to genetic insights and genomic medicine. We operate as an independent virtual medical practice, powered by a digital health technology platform. By partnering with health systems, providers, health plans, employers, labs and biopharmaceutical companies, we expand the reach and impact of precision medicine. We provide clinical assessments and tools, test recommendations and ordering, and personalized care plans to deliver optimal patient care and improve health outcomes. The company, which is headquartered in South San Francisco, has been honored as The Best Digital Health Company to Work For by Rock Health, Fenwick & West and Goldman Sachs in their Top 50 in Digital Health awards. To learn more, visit genomemedical.com and follow @GenomeMed.

About Pierian

Pierian is a partner in precision medicine, enabling clinicians and medical facilities to advance clinical genomics programs and modernize patient care. We believe in the potential of genomics to transform human health and are working to ensure that communities anywhere can experience the benefits. We curate the worlds genetic knowledge, and our advanced interpretation technology combines this knowledgebase with adaptive learning algorithms that connect diverse sources of information through machine learning. When applied in clinical settings our platform is paired with our enabling services which support workflow design, implementation, validation, interpretation, and reimbursement. For more information, visit http://www.pieriandx.com.

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Genome Medical and Pierian Announce Collaboration to Optimize Genomic Testing Programs - Business Wire

DUBLIN--(BUSINESS WIRE)--The "Rare Disease Genetic Testing Market Size, Share & Trends Analysis Report by Disease Type (Neurological, CVDs), by Specialty (Molecular, Biochemical), by Technology (NGS, PCR-based), by End Use, and Segment Forecasts, 2022-2030" report has been added to ResearchAndMarkets.com's offering.

The global rare disease genetic testing market size is expected to reach USD 2.52 billion by 2030, registering a CAGR of 13.94% over the forecast period, according to this report. Effective regulatory plans to combat rare disease is one of the key drivers of the industry. Furthermore, the presence of a substantial number of registries that provide data and relevant information about related diseases has aided in revenue growth over the past years.

Ongoing conferences to raise awareness about rare and ultra-rare conditions are anticipated to boost the adoption of diagnostic kits and services. For instance, Ergomed and PSR Orphan Experts, with their offices in the U.K., Germany, the Netherlands, Poland, and other countries, participate in various activities that are aimed at raising awareness in this area.

Moreover, the Canadian Organization for Rare Disorders (CORD) offers a strong platform to streamline health policy and a healthcare system that is dedicated to the management of patients with disorders. The agency works with clinicians, researchers, governments, and the diagnostic industry to advance R&D, diagnosis, treatment, and service availability for all rare conditions in the country. As per the National Institutes of Health (NIH), around 30 million Americans have been identified with one of 7,000+ known rare diseases. The number of patients undergoing disease testing is expected to increase in the coming years with growing awareness. The U.S. celebrates Rare Disease Day and promotes developments in this area by raising awareness.

In addition, the presence of the Rare Diseases Clinical Research Network (RDCRN), an NIH-funded research network of 23 active consortia or research groups that includes patients, researchers, and clinicians who are focused on the diagnosis & treatment of disorders is anticipated to positively impact the industry.

Around 50% of the children with learning disabilities and approximately 60% of children with congenital conditions do not receive a definitive diagnosis to identify the cause of their disabilities. Furthermore, the lack of awareness among patients and families about diagnosis and genetic testing has further impeded the industry's growth.

North America dominated the industry in 2021 due to the high incidence of rare diseases, a large number of registries, the presence of substantial numbers of R&D facilities in this area, and extensive investments in diagnosis. Asia Pacific is expected to register the fastest CAGR during the forecast years owing to the presence of a substantial number of organizations that are focusing on disease management.

Rare Disease Genetic Testing Market Report Highlights

Market Dynamics

Market Drivers

Market Restraints

Market Opportunities

Market Challenges

Key Topics Covered:

Chapter 1 Research Methodology

Chapter 2 Executive Summary

Chapter 3 Market Variables, Trends, & Scope

Chapter 4 Industry Outlook

Chapter 5 Disease Type Business Analysis

Chapter 6 Technology Business Analysis

Chapter 7 Speciality Business Analysis

Chapter 8 End-Use Business Analysis

Chapter 9 Regional Business Analysis

Chapter 10 Company Profiles

Companies Mentioned

For more information about this report visit https://www.researchandmarkets.com/r/515scb

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Global Rare Disease Genetic Testing Market Report 2022: Ongoing Conferences to Raise Awareness About Rare and Ultra-Rare Conditions to Boost Growth -...

DNA testing has become increasingly popular over the years, with one of the most prominent companies being DNAfit. DNA testing claims to assess your genetic makeup, ultimately helping users gain insights into their health and fitness that they wouldnt otherwise have. The company can then use this information to tailor a unique workout and diet plan specifically designed for your body.

DNAfit claims to provide some of the most comprehensive DNA testing available. The company also states that it can provide unrivaled insight into users diet, nutrition, fitness, and well-being. However, some of the health claims they make are unsupported by evidence, and theres little scientific evidence for DNA-based personalization. For these reasons, we dont recommend purchasing or using DNAfit kits.

Read on to discover what you need to know about this company and alternatives to consider.

DNAfit is a direct-to-consumer genetic testing company that provides DNA-based insights into diet, fitness, and wellness. The London-based company was founded in 2013 by Avi Lasarow to provide people with a simple way to understand how their genes affect their health and fitness.

The company offers three main products: Diet Fit, Heath Fit, and Circle Premium, with the latter being its most comprehensive option. Each kit provides everything you need to collect a DNA sample from home and send it to their state-of-the-art laboratory for analysis.

Once the results are ready, youll receive a personalized report with actionable insights and recommendations based on your unique genetic makeup.

The primary aim of DNAfit is to provide you with information you can use to improve your health and fitness.

The company offers three different tests, each with a different focus:

We evaluated DNAfit by looking at the companys medical claims and business standards.

Although the company doesnt make any disease claims, some of its health claims are unsupported by solid scientific evidence. For example, personalizing diet and fitness plans according to your genes doesnt correlate with the available evidence.

Likewise, claims that DNA testing results can help you effectively manage stress and sleep are largely unfounded.

In regards to business standards, DNAfit fared well. They have no Food and Drug Administration (FDA) warnings or third-party certifications. Additionally, the company has good privacy standards with SSL encryption and a valid security certificate.

DNAfit is owned by a parent company called Prenetics, which currently doesnt have a Better Business Bureau page. They do, however, have a 3.9-star rating from more than 4,500 reviewers on Trustpilot. Meanwhile, DNAfit has a 3.8-star rating on Trustpilot.

Diet Fit is the most basic of DNAfits offerings. It provides insights into your unique nutrigenetic profile, which is designed to help you understand how your body responds to various types of food and any sensitivities and intolerances you may have. According to the company, youll find out which foods you should eat more or less of to lose weight, maintain weight, or gain muscle with personalized dietary recommendations.

Youll also receive information on building your perfect meal according to how you respond to carbohydrates and fats. You can program the MealPlanner (a personalized meal planning service) with your aim, likes, and dislikes, and it generates a genetically guided recipe plan complete with a shopping list builder.

Health Fit further builds on the diet and nutrient insights from Diet Fit. Youll receive the same insights and have access to the personalized MealPlanner.

Where Health Fit differs is with its fitness response genetic markers. These markers include:

These insights allow you to discover how to optimize your workouts and guide your training choices.

Youll receive information on your stress and sleep profile to help you improve your mental and physical well-being.

Circle Premium is DNAfits most comprehensive offering. In addition to the information provided in Diet Fit and Health Fit, the Circle Premium report is said to assess your genetic risk of certain diseases like dementia, type II diabetes, irritable bowel syndrome, and others.

The aim is to help you better understand your health and take preventive measures like lifestyle changes, check-ups, or more frequent cancer screenings.

It includes over 350 reports covering:

For those thinking of starting a family, the reports provide information on any inherited conditions that could be passed down to future generations.

When you receive your DNAfit report, its important to keep in mind that its only one part of the picture. The results should be used as a guide and not as a certainty.

For example, if your report says you have a higher risk of developing type II diabetes, it doesnt mean youll definitely have the condition in the future. Likewise, a lower risk doesnt necessarily mean symptoms of the condition wont occur.

Remember that your DNA is just one factor in the development of disease. Other important considerations are your lifestyle choices, environment, and more.

The Diet Fit report is easy to understand and isnt too dense in information. It details how your genetics may affect the way you metabolize carbs and fats. It also outlines if you have the required needs for certain vitamins or nutrients.

There are sections for:

The meal planner feature allows you to input your food preferences and generates a genetically tailored meal plan.

The Health Fit report is similar to the Diet Fit report in terms of content and layout. However, it builds on the information with details on how your genes affect fitness levels and provides insights on optimizing your workouts.

It includes:

Theres also information on your stress and sleep profile. The results outline how you cope with stress and your tolerance levels. Youll also find out if youre a warrior or a strategist, which identifies how you process information and perform tasks while under stress.

The Circle Premium report is DNAfits most comprehensive offering. In addition to the information provided in Diet Fit and Health Fit, the Circle Premium report provides the following information:

Youll also discover your ancestry and information on various traits. These include success, behavioral, physical, personality, and gender so you can better understand yourself and your background.

DNAfit claims that they take users privacy very seriously. It was the first company of its kind to become certified by ISO 27001, a globally recognized framework for best practices on information storage and security.

Rather than by name, DNAfit stores your data by ID number and claims that they destroy your samples after use. Your data wont be shared with people outside the company, and DNAfit does not sell your information to third parties.

Here are some other brands that provide DNA testing services. These recommended alternatives have passed Healthlines medical and business standards.

Everlywell provides a convenient way of checking different health issues from allergies to STIs and food sensitivities. However, theres a lack of evidence to support the methods they use for testing food sensitivities. Experts feel that these tests can provide inaccurate and misleading information, so its important to take these results with discretion.

Overall, Everlywell has a solid reputation besides the criticism about their controversial food sensitivity testing. They also use Clinical Laboratory Improvement Amendments (CLIA)-certified laboratories, so youre sure of quality service and results.

Everlywell sells a wide range of at-home testing kits that cover:

Like Everlywell, myLAB Box offers a convenient way to test for STIs and other health conditions from the comfort of your home. In addition, they offer free shipping and results in as little as 2 to 5 days.

They offer sensitivity testing for 96 different foods, and they test for IgA, IgG, and IgG4. This might provide a better picture than relying on IgG alone. But, bear in mind that the test doesnt test for food allergies, as this requires IgE antibody testing.

Other home tests sold by myLAB Box include:

FoodMarble uses a type of breathalyzer that claims to help you figure out which foods cause digestive issues. The device is small and portable, so you that can take it with you on the go.

To use it, you simply breathe into the device after eating, and it tells you if the food is digesting properly. The device measures hydrogen levels in your breath, and together with the app, it provides accurate information.

FoodMarble sells two breathalyzers:

If you still decide that youd like to try out DNAfits at-home DNA test kits, there are a few things to keep in mind before purchasing.

You should first talk to your doctor, who can more accurately assess your medical, health, and family history. They might be able to provide personalized suggestions based on your diet and fitness patterns, especially if youre looking to lose weight. They may also be able to provide some insights by talking through factors like stress, sleep, and your general well-being.

Your doctor may also be able to suggest lab or food sensitivity tests that can provide information regarding food intolerances and your risk of certain diseases like diabetes.

The brand passed our business vetting standards, meaning its a reputable company without any FDA or Federal Trade Commission (FTC) warnings against them. There also havent been any lawsuits filed.

DNAfit does not yet have a Better Business Bureau page, and its products do not appear on Amazon.

However, it has a Trustpilot page that scores DNAfit 3.9 out of 5 stars with more than 2,500 reviews. Although the reviews are good overall, some customers were unimpressed. They claim that the information provided is very basic and vague.

Users also reported problems with accessing the app and poor customer service.

In short, probably not. No scientific evidence supports claims that these tests can help you lose weight or improve your fitness.

A 2018 study found that DNA testing couldnt help guide people to a specific weight loss regimen that was more likely to be successful. Although many companies claim these effects, it seems there is no difference in weight loss between people following diets that allegedly match their genotype compared to those on standard diets.

The services offered by DNAfit are not inexpensive, starting at around $150 for Diet Fit. However, there is little scientific evidence underpinning their value, so its unlikely that DNAfit is worth the money.

That said, many of the reviews on Trustpilot are positive, with some people stating they would happily recommend DNAfit. So, it comes down to personal choice and budget as to whether DNAfit is worth it to you.

DNAfit states that their at-home DNA tests are accurate, but its tricky to find specific figures. However, they claim to regularly spot-check their labs to ensure they test samples correctly and provide results that are 100% accurate.

Currently, the FDA has only approved 23andMe for some of their at-home DNA tests. Overall, the industry is not regulated and has no independent analysis to verify the sellers claims, so you should still use caution when purchasing a test.

However, generally, DNA testing is a safe procedure. Most kits require a cheek swab or saliva sample, so there are essentially no associated risks. But, when samples are self-collected at home, theres an increased risk of contamination and inaccuracies.

DNAfit is a direct-to-consumer DNA testing company that offers several different tests, including Diet Fit, Health Fit, and Circle Premium.

The company has a good reputation, with few complaints from customers. However, the scientific evidence underpinning the value of their tests is lacking, and there are health claims unsupported by evidence.

Overall, its unclear whether DNAfit is worth the money, and we dont recommend purchasing or using the service for these reasons.

Zia Sherrell is a health copywriter and digital health journalist with over a decade of experience covering diverse topics from public health to medical cannabis, nutrition, and biomedical science. Her mission is to empower and educate people by bringing health matters to life with engaging, evidence-based writing.

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DNAfit Review: What It Can and Can't Tell You - Healthline

Direct-to-consumer home genetic kits allowed startups like 23andMe to offer health and ancestry insights at an affordable cost. Now, similar tech is coming to pets.

Itll help vets, breeders and pet parents to verify parentage and breed, diagnose diseases and plan for future health risks.

Everything we have seen happening in humans, in terms of predictive and personalised medicine and genetics-based diagnostics, has migrated into the pet space, says Sergey Jakimov, founding partner of LongeVC, a European VC fund that focuses on early-stage biotech and longevity. This is super exciting because pets, as living beings, have equalised themselves in importance in terms of how much money and attention is spent on their longevity, and in disease diagnostics and prevention.

Its not the first time human health innovation has come to the animal world US-based Signal Pet, for example, provides artificial intelligence-based radiology but animal genetics could be big business.

Animal genetics market revenue is predicted to exceed $6.4bn by 2027, up from $99m in 2020. Sifted dug into the sector and found the startups to watch and the VCs watching them.

Feragen, an Austria-based pet genetics startup, sees the vet sector as a growth engine for its business. It wants to move from diagnostics, where such tools are common, into disease prevention.

Puppies are more like family members

We want to push the prevention angle. What can we learn from genetics to create a life plan for a dog? says Anja Geretschlger, founder and CEO. Pet parents are becoming more interested in understanding the risk of diseases that might come when the pet is five or six, so they are more prepared when the symptoms show up.

Michael Geretschlger, Anjas husband and collaborator, says preventive health is getting more [attention] as puppies are more like family members. Anja Geretschlger adds that genetic insights are valuable for breeders in the era of designer dogs.

This is because cross-breeding can lead to health complications, such as labradoodles developing skin problems due to different fur structures between labradors and poodles.

Another European player is Germany-based Generatio, which provides genetic testing for animal owners, vets and breeders.

Theres also UK-based AffinityDNA, acquired in May by Australian diagnostics company Genetic Technologies, which provides animal testing for allergies and intolerances, paternity testing and direct-to-consumer (DTC) genetic tests from companies like Embark, Wisdom Panel and BasePaws.

Genetic Technologies portfolio includes General Genetics Corporation and associated brand EasyDNA, which offers UK pet owners breed composition tests, disease susceptibility tests for dogs, and feline and equine offerings.

European VCs are also interested in startups across the pond. Garri Zmudze, a Latvian biotech angel investor and founder of Switzerland-based LongeVC, investedin Basepaws, the American cat genetics company recently acquired by Zoetis, an animal medicines and vaccinations company.

Basepaws plans to expand into the veterinary portfolio of genetic, oral and microbiome screening tools for disease risk, screening 64 feline health markers and over 210 canine health markers.

For some, the pet genetics space is not just a play on the pet market but could inform human health and longevity science. Some diseases are rare in humans but are common in certain breeds of pets, who are useful for studies into genetic disease origins.

There is a tight connection between humans and animals and we can learn from both, says Anja Geretschlger.

Zmudzes investment in Basepaws, for instance, was not a pet consumer market bet at all. Instead it was aligned with his interest in human longevity, given the genetic overlaps between animals and humans in diseases like cancer and some neurodegenerative conditions.

There is a tight connection between humans and animals and we can learn from both

These overlaps are the reason we have animal models in clinical trials, because the metabolic processes are translatable, says Jakimov. There are tonnes of matches.

Matt Kaeberlein, professor of laboratory medicine and pathology at the University of Washington School of Medicine and head of the dog ageing project, a world-leading biological study of ageing in dogs, sits on the LongeVC advisory board, alongside executives from European pharmaceutical giants Roche and Novartis. And Zmudze was also an investor in Insilico Medicine, an AI drug discovery unicorn.

As home to many of the worlds top pharmaceutical companies, Europe could be a major player in longevity research. Switzerland is developing a Longevity Valley initiative, Bristol Myers Squibb and Merck are major investors in cancer immunotherapies and the pharma industry is investing in early stage longevity companies like senescent cells companies, through initiatives like Mercks early stage venture arm.

Pharmaceutical companies live in the future, they live in 10 to 20 year cycles, says Jakimov. They are super focused on the longevity sector.

This article first appeared in our monthly Unleashed pet tech newsletter, a collaboration with Purina Accelerator Lab. All content is editorially independent.Sign upto our newsletter here to keep up to date with the latest goings on in the European pet tech industry.

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Purrsonalised health: The startups and VCs betting on pet genetics - Sifted

Jen Culton, a 48-year-old mom of four from Omaha, Nebraska, never thought much about genetic mutations. "I had read in magazines that Angelina Jolie had a preventative double mastectomy, and I thought, 'That's really aggressive for someone who doesn't even know if she's going to get breast cancer,'" Culton said. A family diagnosis changed her perspective on her own health and that of her daughters.

In July 2013, Culton's older sister who was 38 years old at the time learned she had breast cancer. A genetic test showed she had a gene mutation called BRCA1 predisposing her to cancer, so her oncologist suggested all of her siblings get tested. That's when Jen learned she had the same mutation.

According to the National Cancer Institute, people who inherit BRCA gene mutations have an increased risk of multiple cancers, particularly breast and ovarian. They also tend to develop these cancers earlier than people who don't carry these mutations.

People who learn they have these genetic mutations can take steps to screen for early signs of cancer, or to prevent the cancers from developing altogether.

Culton ultimately had all of her reproductive organs and her breasts surgically removed, drastically lowering her risk of developing ovarian or breast cancer. Now, she's tasked with potentially guiding her daughters down a similar path.

Culton's two older daughters have already undergone genetic testing. So far, only Sammi Jen's 19-year-old has tested positive for the BRCA1 mutation. "I cried all day, because I felt guilty that I passed this on to her, but Sammi took the news extremely well," Culton said.

Sammi's already entertaining the idea of having the same surgeries her mom did, but it'll probably be a few years before she takes any medical-preventative action.

The National Comprehensive Cancer Network, an organization that develops preventative guidelines for people with a high risk of genetic conditions, currently advises medical providers to begin screening people with a BRCA1 or 2 mutation in their 20s regardless of when they learn about the mutation.

For people with a BRCA1 mutation, guidelines recommend routine breast imaging to detect early signs of breast cancer beginning at age 25. Screening may start sooner for people with a family member who had cancer at a younger age.

"It's very rare for a BRCA1 carrier to have breast cancer younger than age 25," Nicolette Chun, a genetics counselor at the Stanford Cancer Institute, said. "If there is a family history of breast cancer under age 30; we start MRI screening as young as 20."

In place of breast screening, people with BRCA mutations can have mastectomies, or surgical removal of the breasts, at any point. Medical experts usually recommend oophorectomies, or the removal of one or both ovaries, around age 40 or sooner for those who either don't want kids or are done having them.

Culton's 10-year-old daughter, Daisy, has asked about the mutation, but Culton doesn't plan to screen her until she's at least 18. "My husband and I don't want to cause anxiety or put pressure on her, especially because you can't do anything if you find out you have the mutation that young," Culton said.

Experts agree that finding out about a mutation as a child or teen may do more harm than good.

Most major health organizations, including the National Society of Genetic Counselors, advise against testing minors for adult-onset conditions: There's no medical action to take, and learning about a mutation can cause unneeded fear and anxiety for years to come.

"When deciding about genetic testing, we have to consider the effects it's going to have on a person's healthcare, but we also have to think about the person's mental health," Skyler Jesz, a board-certified physician assistant who has worked with Culton and other patients to decide when to perform genetic testing, said. "It's difficult for an adult to have a conversation about an increased risk, let alone a 10-year-old."

While learning about a genetic mutation gave Culton a sense of control over her own health and she feels a sense of responsibility over her daughters' well-being protecting her daughters includes prioritizing their mental health. "I want Daisy to have a childhood," she said. "We can deal with this when she's older."

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One of my daughters and I have the BRCA1 gene mutation - Insider

The need for understandable and transparent pricing for medical services in the U.S. has increased in urgency with the continuing rise of out-of-pocket healthcare costs.

Americans are delaying healthcare because they are unsure of the cost or they cannot afford it. A recent Willis Tower Watson (WTW) survey of 9,600 U.S. workers showed that 4 in 10 people deferred healthcare in the past year, with 28% delaying or canceling a medical procedure and 17% not filling a prescription.

Recent federal mandates are inching price transparency forward with the goal of improving care while reducing waste and reigning in costs. With lab values as the basis for 70 percent of medical decisions, lab testing transparency for price and appropriate use is essential to lowering costs for patients.

But price transparency goes beyond reducing costs. It will realign how labs, providers, and payers work together to order, approve, and pay for the right care that moves us closer to the Triple Aim of improving the patient experience, improving the health of populations, and reducing costs.

You cant flip a transparency switch

Unfortunately, the lab testing industry cant flip a switch and make transparency universal.

With healthcare affordability as a big concern, Americans are becoming more involved in managing their care, and that includes switching health insurance plans to secure the best benefits and reduce out-of-pocket costs. To help support these consumer decisions, recent federal regulations were enacted.

Even with the government stepping in to improve access to pricing data and reduce unexpected costs, we are still far from having universal lab testing transparency. Achieving full transparency will require: 1) coordinated education, 2) simpler data access, and 3) the strategic implementation of payment integrity programs to eliminate unnecessary lab tests while identifying underutilized tests that improve patient care and outcomes.

Location, location, location

Education about the impact of lab testing location on cost has to move upstream in the care process. Today, that often happens after the lab test has occurred. Patients and their physicians need to understand and discuss which lab testing locations bring the most value and inform the best care.

The lab test location can result in increased costs, over-testing, and unnecessary tests.

Hospital-owned labs are typically paid more than independent labs. Lab tests performed at hospital-owned labs are generally 2.5 to 4.5 times the cost of an independent lab. Avalons analysis of paid claims demonstrates that hospital outpatient labs are paid on average 300%-400% of Medicares independent diagnostic fee schedule. Hospitals frequently argue they need to charge more to support their specialty test innovation and development. That doesnt hold true for routine testing, though. For example, some hospitals will be reimbursed $100 for a routine test, while an independent or non-hospital lab will be reimbursed on average $20 for the same test, performed on the same machine.

Physician office lab testing is more costly and more frequent. When physician offices have their own lab equipment, our analysis of paid claims demonstrates that physician offices are reimbursed on average 120% to 130% of Medicares independent diagnostic fee schedule for those tests. In addition, the frequency of lab testing increases when the laboratory testing is performed in the physicians office. When the elapsed time between tests is less than the time it takes for the body to produce new chemicals in the body (measured by the half-life of the chemical) this is not a clinically useful frequency of testing.

Our analysis of paid claims demonstrates independent labs conduct the most clinically useless test units. The laboratory industry develops the test order menus from which physicians order labs. While developing panels, which represent useful tests commonly ordered together, the labs will add additional tests that are not useful to the physicians diagnostic evaluation. This is known as panel stuffing in the industry. Panel stuffing is a wasteful practice that adds unnecessary tests (those that dont comply with a health insurance plans published policies) within routine lab panels and increases test costs for patients.

Consider that several labs add an experimental subcomponent analysis of Vitamin D to the Vitamin D panel menu. Also, consider that many labs, on the menu for evaluation of thyroid, include seven unique tests when two are important to the most common clinical scenarios. This raises the cost of routine thyroid testing from around $30 to about $137.

Lab tests that lack clinical indications can lead to unneeded sample collection from patients as well as a higher risk of false-positive results and unnecessary costs. We identified that on average there is approximately $2 per member/per month worth of obvious waste in processed claims. This represents the total amount allowed for the testing. Patients, on average, pay 1/3 of the cost at the point of service and payers pay the other 2/3 of that cost. Another way to look at this same data is that for every 1 million members with health benefits, approximately $24MM dollars of useless testing is reimbursed per year, with patients paying $8MM of that out of pocket.

Promoting lab testing at the right locationfor both cost and caremay be harder than it sounds. Physicians who are part of health systems may be pressured and/or incentivized to send patients to the affiliated hospital labs. Plus, payers are often hesitant to educate their members about lower-cost lab testing options because of various provisions in their contracts with hospitals.

Sharing the facts about lab testing locations will require a national education campaignmuch like the campaign conducted for the $0 co-pay generic drugsto motivate patients to insist on having lab testing performed at lower-cost locations and to only pay for tests that benefit patient care.

Right test, right time, right care

Patients, providers, and payers all want the right care. Appropriate lab testing is a critical driver behind this. The demand for lab testing is growing as more providers recognize the importance lab results play in confirming the diagnosis, monitoring patients treatment responses, and monitoring diseases significant to public health (i.e., Covid-19). The high prevalence of chronic and acute diseases, an aging population, and advancements in genetic testing are also fueling this growth. There is an expected 10% compounded annual growth rate through 2029.

Receiving the right care should be as simple as having the right lab test at the right time (in the right location). However, the current healthcare ecosystem includes trends that undermine the journey to this valuable goal. When looking closely at the 13+ billion lab tests performed annually across the U.S., 30% of lab tests are unnecessary, 30% of patients dont receive the tests they need, and 1 in 3 genetic tests are ordered in error.

When you consider that lab testing is the gateway for diagnosis and treatment of many conditions, it transforms each test from being a passive event to a critical data point for proactive value-based care success. With this backdrop, a payment integrity program that includes lab benefit management can serve as a strategic lever to curb these negative testing trends and advance the Triple Aim.

With sound science at the core, payment integrity programs provide input from policies developed by independent clinical boards on what types of tests are not evidence-based and emphasize the appropriate units for routine and genetic testing. This process flags non-adherent tests (from both panel stuffing and inappropriate genetic test orders) and underutilized tests that can inform patient care, especially in cancer care.The ultimate impact is for patients to receive the right tests at the right time to better inform diagnoses and care plans, reduce waste in time and treatments that are not helping patients, and achieve cost alignment that drives the right outcomes.

As the U.S. healthcare industry continues to advance value-based care and population health, lab testing price transparency and payment integrity programs should be a priority.

Photo: champc, Getty Images

Excerpt from:
Lab testing transparency will improve patient care and lower costs - MedCity News