Archive for the ‘Genetic Testing’ Category

A new and versatile research presentation depicting key milestone developments in the global Predictive Genetic Testing Market has been added to the recent fast-growing data archive, which provides players with descriptive inputs on key market developments, trends and high revenue generation and overall guiding supplier activity. The report is carefully contrasted to cover all important aspects of the market development, continuing to strengthen the vitality of participants in the global Predictive Genetic Testing Market and to encourage unbiased market decisions amid fierce competition. The report maintains and leads the market by investing in strategic planning and investment discretion, maximizing high returns, balancing various market-specific developments such as inventory management, consumption and production development design, and motivating accurate advertising and promotional content. Designed to defend. Position in the fierce competition of the global Predictive Genetic Testing Market.

Essential Key Players involved in Global Predictive Genetic Testing Market are:

Agilent, Technologies, Inc., BGI Genomics, F.Hoffman-La Roche Ltd., Genes In Life., Invitae Corporation, Illumina, Inc., 23andMe, Myriad Genetics, Inc., Pathway Genomics and Thermo Fisher Scientific, Inc.

Request for a sample copy of this research report @ https://www.adroitmarketresearch.com/contacts/request-sample/1276?utm_source=re

The Predictive Genetic Testing Market Report is thoroughly structured to cover the development of significant milestones in the competitive spectrum, highlighting advanced market players and enhancing competition, completing a thorough guide to core competencies and investment value. The research elements presented in this advanced report have been prepared to ensure smooth decision-making based on thorough and unbiased research practices.

Key reader queries adequately addressed in the Predictive Genetic Testing Market Report include top vendors and business strategies driving growth, regional outlook and identification of growth hotspots, followed by noticeable growth delays, challenges, and potential threats, followed by a dwarf Leads to growth prospects. .

Our well-updated online research archives stand out across the globe and in regional areas and boast a constantly growing clientele with a dedicated presence in specific countries. As a highly preferred research and consulting service provider, we are committed to addressing multiple industries with in-depth insights favoring error-free deductions and forward-looking insights to support business decisions in the future.

Complete Summary with TOC Available @ https://www.adroitmarketresearch.com/industry-reports/predictive-genetic-testing-market?utm_source=re

Predictive Genetic Testing Market SegmentationType Analysis of Predictive Genetic Testing Market:

by Types (Predispositional Testing and Presymptomatic Testing), by Demographics (<35, 35 ? 64 and 65+)

Report Investment: Top 5 Reasons1. The Predictive Genetic Testing Market report entails multi-faceted information pertaining to diverse timelines across historical and current scenarios to influence future ready business decisions2. The report categorizes new business avenues and novel opportunities thus allowing players to redesign and generate novel growth models.3. The report delivers novel growth strategies thus allowing market investors to divert investments across novel fronts4. The report also allows market participants to identify and practice new growth strategies thus invoking ample profits across various segments and sub-segments.5. The report is a highly reliable investment guide to identify new trends in the market and encouraging market players to align with these trends in delivering optimistic growth outcome despite neck-deep competition.6. The Predictive Genetic Testing Market report also shares vital aspects on COVID-19 outbreak and eventual pandemic management.

Global Predictive Genetic Testing Market: Key Products1. Overall Predictive Genetic Testing Market Overview Summary2. Comprehensive Analysis Survey3. A systematic reference to recent and past market developments4. Growth prognosis by dominant segment and area completed with sub-segment presentation5. Clear view of current and past growth milestones through Predictive Genetic Testing Market size estimates6. Details of company references and strategic recommendations to diversify market presence.

Major Topics Covered in this Report:1. Study Coverage2. Executive Summary3. Predictive Genetic Testing Market Size by Manufacturers4. Production by Regions5. Consumption by Regions6. Predictive Genetic Testing Market Size by Type7. Predictive Genetic Testing Market Size by Application8. Manufacturers Profiles9. Production Forecasts10. Consumption Forecast11. Upstream, Industry Chain and Downstream Customers Analysis12. Opportunities and Challenges, Threat and Affecting Factors13. Key Findings14. Appendix

Make An Enquiry About This Report @ https://www.adroitmarketresearch.com/contacts/enquiry-before-buying/1276?utm_source=re

About Us :

Adroit Market Research is an India-based business analytics and consulting company. Our target audience is a wide range of corporations, manufacturing companies, product/technology development institutions and industry associations that require understanding of a markets size, key trends, participants and future outlook of an industry. We intend to become our clients knowledge partner and provide them with valuable market insights to help create opportunities that increase their revenues. We follow a code- Explore, Learn and Transform. At our core, we are curious people who love to identify and understand industry patterns, create an insightful study around our findings and churn out money-making roadmaps.

Contact Us :

Ryan JohnsonAccount Manager Global3131 McKinney Ave Ste 600, Dallas,TX 75204, U.S.APhone No.: USA: +1 972-362 -8199 / +91 9665341414

Continue reading here:
Predictive Genetic Testing Market Business Opportunities, Leading Players, Trends Outlook Up to 2025Agilent, Technologies, Inc., BGI Genomics,...

SAN DIEGO, Dec. 23, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced the publication of a study by the Human Genome Structural Variation Consortium (HGSVC) revealing that their sequencing method based on PacBio HiFi reads detected only 72% of the large SVs that Bionanos optical genome mapping (OGM) detected across 32 different human genomes. The consortium developed its custom sequencing method by combining sequencing with PacBio and the single-strand prep and sequencing method StrandSeq to establish a comprehensive catalog of human SVs with base-pair and haplotype resolution. The cost of this method is estimated, based on list pricing, to be between $10,000 and $20,000 per genome. OGM with Saphyr, which costs less than $500 per genome, was shown to be significantly more sensitive than the sequencing method.

Many of the SVs missed by the sequencing technologies overlapped with complex regions of the genome that cause microdeletion and microduplication syndromes, which are highly relevant clinically owing to their involvement in neurodevelopmental disorders. The analysis primarily focused on insertions and deletions, which are considered to be easier for sequencing to detect. Other studies have shown that OGM significantly outperforms sequencing for detection of other SVs, such as inversions and translocations, which are also highly clinically relevant, especially in cancer.

The publication did classify some large SVs as being uniquely detected by the sequencing-based method based on PacBio HiFi. Upon further analysis, however, most of these SVs were in fact identified by OGM, but classified differently. Overall, less than 2% of the large SVs detected by PacBio were missed by OGM.

Erik Holmlin, Ph.D., CEO of Bionano Genomics commented, This publication outlines one of the most comprehensive side-by-side comparisons of PacBio sequencing and Bionanos OGM for large SV detection. The unparalleled performance of Saphyr is remarkable because the Bionano data were generated on our commercially available Saphyr system and analyzed using its automated pipeline for a variable cost per genome of less than $500. With the latest update to Saphyrs software released this week, the instrument can now generate clinical quality SV calls on 12 samples per day per instrument and up to 96 samples per week.

Something else worth noting in these studies is that longer read lengths improve the accuracy of SV calls. With PacBios focus on matching Illumina-like read quality, their HiFi reads are significantly shorter than their traditional long-reads. By contrast, Saphyr images molecules that are consistently 20 to 30 times longer than PacBio reads. Sequencing reads are not getting longer, which we believe implies that Saphyr will remain the only effective and affordable technology currently capable of detecting the structural rearrangements in the genome that are involved in disease.

The publication is available at https://www.biorxiv.org/content/10.1101/2020.12.16.423102v1

About Bionano GenomicsBionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visitwww.bionanogenomics.com or http://www.lineagen.com.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things, Saphyrs continued position as the only effective and affordable technology capable of detecting structural variations in the genome that are involved in disease. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; the loss of key members of management and our commercial team; and the risks and uncertainties associated withour business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2019 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617) 430-7577arr@lifesciadvisors.com

Media Contact:Darren Opland, PhDLifeSci Communications+1 (617) 733-7668darren@lifescicomms.com

See more here:
Publication Reveals in Side-by-Side Comparison that Method Using PacBio Sequencing Detects Only 72% of the Large Structural Variants Detected by...

The primary aim of the globalDTC Genetic Testing Marketresearch report is to evaluate, describe, and forecast the DTC Genetic Testing market globally based on the various factors like organization size, region, service, application, segments, deployment mode, and verticals. The global DTC Genetic Testing market research report distinctly evaluates every segment {Disease Risk and Health, Ancestry or Genealogy, Kinship, Lifestyle}; {On-line Sales, Doctors Office} influencing the growth factors, restraining factors for the growth, contribution to the total DTC Genetic Testing market and the future developments.

Our Research Analyst implemented a Free PDF Sample Report copy as per your Research Requirement, also including impact analysisofCOVID-19 onDTC Genetic Testing Market Size

Get Free Sample of this DTC Genetic Testing Report Here:https://www.marketresearchstore.com/report/global-dtc-genetic-testing-market-report-2020-industry-764876#RequestSample

The global DTC Genetic Testing market research report consists of the following:

The detail meaning of the DTC Genetic Testing market, which helps to evaluate and understand the market and its applications on a global level.

The DTC Genetic Testing market is segmented into the detailed segments and has been evaluated thoroughly for better understanding and analysis of the market.

To be in the competitive position, the global DTC Genetic Testing market research report provides full coverage of the factors contributing to the growth of the DTC Genetic Testing market, factors which are hampering the growth rate and the reason of such an activity is also evaluated briefly in the report so that DTC Genetic Testing market players can take decisions.

DTC Genetic Testing Market COVID-19 Impact Analysis

The outbreak of COVID-19 was sudden and was not at all considered so dangerous when it first struck at Wuhan city of China. Although, everything in that city was closed but the coronavirus infection had wide spread in China as a wild fire. Within months it spread to the neighboring countries and then to every single country in the world. The World Health Organization announced it as a pandemic and till then it had created huge losses in several countries.

Read Detailed Index of full Research Study at:https://www.marketresearchstore.com/report/global-dtc-genetic-testing-market-report-2020-industry-764876

Summary

The global DTC Genetic Testing market research report gives a comprehensive data and analysis about the worldwide market. The report further gives the data that one could rely on; which comes with in-depth analysis of DTC Genetic Testing market. Different factors like in-depth description of DTC Genetic Testing market, growth factors, segmentation, regional analysis, sales, supply, demand, manufacture analysis, recent trends, and competing companies are included in the DTC Genetic Testing report. The exquisite data provided in global DTC Genetic Testing market research report is explanatory in terms of quantity as well as quality.

Other Points Covered In The Global DTC Genetic Testing Market Research Report

The global DTC Genetic Testing market research report also states the present opportunities in the market and future possibilities present in the market.

All the necessary methods for collecting the data were used and required methodology as per the research was used to get to the results for the analysis.

The global DTC Genetic Testing market research report consists of porter Five Forces model and SWOT analysis. For the validations of the data both Top-down method and Bottom-up method were used.

All the major players Color Genomics, Laboratory Corporation of America, MapMyGenome, Gene by Gene, 23andMe, African Ancestry, Helix, WeGene, Myriad Genetics, Pathway Genomics, Quest Diagnostics, Thermo Fisher leading in the DTC Genetic Testing market are mentioned in the report along with their regions-wise dominance.

A detail region-wise segmentation is also been involved in the global DTC Genetic Testing market research report to make a clear.

For more information on this DTC Genetic Testing Report, Inquiry Here:https://www.marketresearchstore.com/report/global-dtc-genetic-testing-market-report-2020-industry-764876#InquiryForBuying

See the rest here:
Global DTC Genetic Testing Market Growth Graph To Demonstrate Inclination Towards Positive Axis By 2026 - The Courier

Dublin, Dec. 21, 2020 (GLOBE NEWSWIRE) -- The "Genetic Testing. Global Market Forecasts for Applications and Technologies. Updated for COVID-19 Pandemic Impact with Executive and Consultant Guides 2021 to 2025" report has been added to ResearchAndMarkets.com's offering.

The role of genetics in health and disease is just now being understood. This new knowledge, combined with lower pricing is driving the Genetic Testing industry to record growth. New drugs may only work for people with a certain genetic makeup, and this too is driving the Genetic Testing Industry.

The traditional genetic testing market is growing in volume and growing in the breadth of tests creating a new life for the industry. The report forecasts the market size out to 2025. The report includes detailed breakouts for 14 countries and 5 regions.

Predictive Diagnostics? Pharmacogenomic Testing? Direct to Consumer? Find out about the technology in readily understood terms that explain the jargon. What are the issues? Find the opportunities and the pitfalls. Understand growth expectations and the ultimate market forecasts for the next five years.

Key Topics Covered:

Genetic Testing - Strategic Situation Analysis & Impact of COVID-19 Pandemic

1. Introduction and Market Definition 1.1 Genetic Testing Definition in This Report 1.2 The Genomics Revolution 1.3 Market Definition 1.3.1 Revenue Market Size1.3.1 Newborn Screening 1.3.2 Non Invasise Pregnancy Testing 1.3.3 Predictive 1.3.4 Oncology 1.3.5 Direct to Consumer 1.3.6 Other Application1.3.7 PCR 1.3.4 NGS 1.3.5 Cytogenetic1.3.6 Other Technology 1.4 U.S. Medical Market and laboratory Testing - Perspective 1.4.1 U.S. Medicare Expenditures for Laboratory Testing

2. Market Overview 2.1 Market Participants Play Different Roles 2.1.1 Supplier/pharmaceutical 2.1.2 Independent lab specialized/esoteric 2.1.3 Independent lab national/regional2.1.4 Independent lab analytical 2.1.5 Public National/regional lab 2.1.6 Hospital lab 2.1.7 Physician lab 2.1.8 DTC Lab2.1.9 Independent Genetic Testing Lab2.1.10 Audit Body2.2 Genetic Tests -Types, Examples and Discussion 2.2.1 Preimplantation Genetic Diagnosis- An Emerging Market 2.2.2 Prenatal Diagnosis - New Technologies Create Opportunity 2.2.3 Newborn Screening 2.2.2 Diagnostic Testing 2.2.3 Carrier Testing 2.2.6 Predictive and Presymptomatic Testing 2.2.7 Pharmacogenomics 2.2.8 Forensic Testing2.2.9 Parental Testing 2.2.10 Ancestral Testing2.3 Industry Structure 2.3.1 Hospital's Testing Share 2.3.2 Economies of Scale2.3.2.1 Hospital vs. Central Lab 2.3.3 Physician Office Lab's 2.3.4 Physician's and POCT 2.4 Market Shares of Key Genetics Players - Analysis

3. Market Trends3.1 Factors Driving Growth3.1.1 Genetic Discoveries Creating New Diagnostic Markets 3.1.2 Aging Population a Boon for Diagnostics3.1.3 Pharmacogenomics Drives Further Growth3.1.4 Oncology and Liquid Biopsy Enter New Era3.1.5 Fertility Practice Growth drives market 3.1.6 Direct to Consumer begins to break out 3.2 Factors Limiting Growth3.2.1 Increased Competition Lowers Price 3.2.2 Lower Costs3.2.3 Testing usage analysis curtailing growth3.2.4 Wellness has a downside 3.3 Instrumentation and Automation 3.3.1 Instruments Key to Market Share 3.3.2 Bioinformatics Plays a Role3.4 Diagnostic Technology Development3.4.1 Next Generation Sequencing Fuels a Revolution3.4.2 Impact of NGS on pricing 3.4.3 POCT/Self Testing Disruptive Force3.4.4 Pharmacogenomics Blurs Diagnosis and Treatment 3.4.5 CGES Testing, A Brave New World 3.4.6 Biochips/Giant magneto resistance based assay

4. Genetic Testing Recent Developments4.1.1 Importance of This Section 4.1.2 How to Use This Section

5. Profiles of Key Companies

6. Global Market Size6.1 Global Market by Country 6.1.1 Table - Global Market by Country6.1.2 Chart - Country Market Shares 6.2 Global Market by Application 6.2.1 Table - Global Market by Application 6.2.2 Chart - Application Share by Year 6.2.3 Chart - Application Segment Growth Rates 6.2.4 Chart - Application Segment Share Shifts6.2.5 Chart - Application Segment Share Base Year 6.2.6 Chart - Application Segment Share Final Year 6.3 Global Market by Technology 6.3.1 Table - Global Market by Technology 6.3.2 Chart - Technology Share by Year 6.3.3 Chart - Technology Segment Growth Rates 6.3.4 Chart - Technology Segment Share Shifts6.3.5 Chart - Technology Segment Share Base Year 6.3.6 Chart - Technology Segment Share Final Year

7. Market Sizes by Application 7.1 Newborn Testing Market 7.1.1 Table Newborn - by Country7.1.2 Chart - Newborn Growth 7.2 NIPT Market 7.2.1 Table NIPT - by Country 7.2.2 Chart - NIPT Growth 7.3 Predictive Testing Market7.3.1 Table Predictive - by Country 7.3.2 Chart - Predictive Growth 7.4 Oncology Testing Market7.4.1 Table Oncology - by Country 7.4.2 Chart - Oncology Growth 7.5 DTC Testing Market 7.5.1 Table DTC - by Country 7.5.2 Chart - DTC Growth 7.6 Other Testing Market 7.6.1 Table Other - by Country 7.6.2 Chart - Other Growth

8. Global Genetic Testing Market by Technology 8.1 PCR Testing Market 8.1.1 Table PCR - by Country 8.1.2 Chart - PCR Growth 8.2 NGS Market 8.2.1 Table NGS - by Country8.2.2 Chart - NGS Growth8.3 Cytogenetic Testing Market 8.3.1 Table Cytogenetic - by Country8.3.2 Cytogenetic - Predictive Growth 8.4 Other Testing Market 8.4.1 Table Other - by Country 8.4.2 Chart - Other Growth

9. The Future of Genetic Testing

10. Appendices

For more information about this report visit https://www.researchandmarkets.com/r/z52i9s

Research and Markets also offers Custom Research services providing focused, comprehensive and tailored research.

Read the original:
Insights on the Genetic Testing Global Market (2021 to 2025) - Updated for COVID-19 Pandemic Impact - GlobeNewswire

A Perth researcher is hoping to make a case for the upfront use of advanced DNA testing in patients with two of the most common forms of leukaemia.

Sir Charles Gairdner Hospital haematologist Dr Xuan Ni Tan is one of five cancer researchers awarded a State Government fellowship in the latest round of the WA Cancer and Palliative Care Network Fellowship program.

She will use her fellowship to determine whether the benefits of more targeted treatment can justify the costs of using advanced gene-sequencing technology to screen patients before they start treatment.

Dr Tans retrospective study will investigate the extent to which such sequencing would have altered the course and cost of treatment of 150 WA patients with Acute Myeloid Leukaemia (AML) and Chronic Lymphocytic Leukaemia (CLL).

These two cancers are the most prevalent forms of leukaemia in adults, affecting about 2600 Australians annually.

Patients involved in Dr Tans research have already completed their treatment which they were given in accordance with contemporary treatment guidelines.

Treatment for AML typically begins with one or two rounds of intense chemotherapy (designed to achieve remission by killing as many abnormal white blood cells as possible) followed by a further four rounds to consolidate the gains of their earlier therapy.

Genetic testing currently offered to these patients flags a proportion as high-risk, requiring a bone marrow transplant for best survival. But it is estimated that up to 25 per cent of high-risk patients are missed.

These undetected patients face not only delays in accessing alternative treatments but exposure to potentially harmful therapy.

Dr Tan will see how the use of massively parallel sequencing where multiple genes are sequenced simultaneously would have influenced the treatments of her patient cohort (100 AML and 50 CLL patients) and the difference it would have made to the overall costs of their treatment.

Although the technique is more expensive than the genetic testing currently offered, Dr Tan will see if the extra cost would have been offset by the savings made from patients getting more suitable treatment earlier.

Dr Tans study is focusing on AML and CLL because of their prevalence among adults and because of the ability of advanced sequencing to detect mutations in these cancers that would change treatment selection.

Evidence of significant patient benefit without substantial additional costs would provide a case for offering the advanced sequencing upfront to all AML and CLL patients.

While 75 per cent of AML patients achieve remission from chemotherapy, most will relapse within three years. For some CLL patients, treatment will not only be ineffective but could also put them at risk of life-threatening infections and secondary cancers.

The Department of Healths Assistant Director General (Clinical Excellence) Dr James Williamson said Dr Tans research highlighted the opportunities arising from advances in human genomics that were enabling doctors to provide treatments tailored to patients individual genetics and the genetics of their cancer.

What is important about this project is that it has the potential to prevent cancer patients being subjected to unnecessary, ineffective and potentially harmful treatments while hastening their access to alternative options, he said.

The full list of fellowship recipients is

Media contact: 9222 4333Follow us on Twitter: @WAHealth

Read the original post:
Researcher to test value of tailored gene testing - WA Health

Genomic and ancestry analyses published in Cancer Discovery revealed that among patients with lung cancer from Latin America, Native American ancestry was associated with increased mutations in the EGFR gene, independent of smoking status.1

Researchers indicated that these findings suggest that germline genetics, rather than environmental disparities, underlie these observed disparities.

Lung cancer is the leading cause of cancer mortality, both in the United States and globally, and understanding inherited risk factors for this disease may help us to identify populations that would benefit from increased screening efforts, Matthew Meyerson, MD, PhD, director of the Center for Cancer Genomics at Dana-Farber Cancer Institute in Boston, said in a press release.2

To explore the landscape of somatic cancer mutation in lung cancers from Latin America and to evaluate the influence of germline ancestry of genetically amalgamated patient populations on these somatic alterations, the study investigators performed genomic analysis of 601 lung cancer cases from Mexico and 552 from Colombia, including 499 self-reported non-smokers. Next-generation sequencing targeting a panel of 547 cancer genes plus intronic regions of 60 cancer genes was used to identify single nucleotide variants (SNVs), indels, somatic copy number alterations (SCNAs), and gene fusions; importantly, this gene panel covered all currently known lung cancer drivers.

It was discovered that 48% of all samples harbored oncogenic mutations in EGFR, KRAS, BRAF, ERBB2, or MET, or fusions in ALK, ROS1, or RET. Moreover, 785 of 1153 samples harbored at least 1 detectable alteration in a broader set of known lung cancer driver genes also including TP53, STK11, KEAP1, SMARCA4, SETD2, MYC, and MDM2. The detected mutation frequencies of EGFR and KRAS were 30% and 10%, respectively, in the tested lung cancer samples from Mexican patients, and 23% and 13%, respectively, in the tested lung cancer samples from Colombian patients.

Using a new method developed by Jian Carrot-Zhang, PhD, and Alexander Gusev, PhD, ancestry analyses from the tumor samples was also performed in this admixed population of patients. Further, global ancestry analysis was performed to measure proportions of African, European, and Native American ancestry across the genome. In addition, local ancestry analysis was performed, which evaluates genetic ancestry at a particular chromosomal location.

After obtaining data on both somatic alteration and genetic ancestry, the next step for the researchers was assessing the correlation of these features. After adjusting for various factors, including self-reported smoking status and sample-specific tumor mutational burden, it was discovered that global Native American ancestry was positively correlated with mutations in the EGFR gene. Even further, the researchers determined that Native American ancestry was predominantly associated with oncogenic mutations in the EGFR gene, but not with non-oncogenic mutations.

Patients were then stratified by their self-reported smoking status and evaluated to determine the association between global ancestry and mutations in target genes. In both individuals who were never smokers and smokers, global Native American ancestry was found to be associated with mutations in the EGFR gene, indicating that the genomic differences associated with Native American ancestry are independent of smoking status.

Smoking increases the risk for KRAS-mutant lung cancers, while patients with lung cancer who are non-smokers more often develop EGFR-mutant lung cancer, Meyerson explained. However, we show in our study that EGFR-mutant lung cancer is also elevated among smokers with Native American ancestry.

Lastly, the investigators developed a local Native American ancestry risk score to assess the association of ancestry with EGFR mutation frequency across multiple distinct sites in the genome. In doing so, it was revealed that the correlation between ancestry and increased mutation frequency in the EGFR gene was stronger at the local genome level than the global genome level.

These results suggest that germline genetics in addition to environmental factors or socioeconomic status may have an influence on the risk of EGFR-mutant lung cancer among those with Native American ancestry, said Meyerson.

Many lung cancers are now treatable with targeted therapy or immunotherapy, Meyerson added. It is very important for patients with lung cancer to undergo somatic genetic testing to determine which treatments are most likely to be effective for their particular cancer.

Moving forward, the researchers suggested that future studies will still be necessary to comprehensively characterize lung cancer genomes from Latin American patients.

References:

1. Carrot-Zhang J, Soca-Chafre G, Patterson N, et al. Genetic ancestry contributes to somatic mutations in lung cancers from admixed Latin American populations. Cancer Discovery. doi: 10.1158/2159-8290.CD-20-1165

2. Native American Ancestry Associated With Increased Mutations in EGFR Gene Among Latin American Patients With Lung Cancer [news release]. Philadelphia. Published December 2, 2020. Accessed December 4, 2020.

Continue reading here:
Latin American Patients with Lung Cancer and Native American Ancestry See Increased EGFR Mutations - Cancer Network

BOYNTON BEACH, Fla. While all of us wait to reunite with family members once the pandemic eases up, five family members are excited to unite for the very first time.

A few months ago, with the help of genetic results from 23andMe, five siblings in five different states learned of their relationship and connected using Zoom calls and text messages.

"Those feelings, still to this day, are still so top-notch. When I talk about it or think about it I still get goosebumps," Jennilyn Hamm said.

Elaine Otway lives in Lake Kiowa, Texas. John Schiavo lives in Boynton Beach, Florida. They grew up with their shared parents and eventually welcomed half-sister Irene Schiavo, who lives in Denver, Colorado.

23andMe revealed a set of twin sisters who shared their father, John, Senior. Karla Lynch who lives in Strasburg, Pennsylvania, and Jennilyn Hamm, who lives in Smithtown, New York. The twin sisters didnt know the man they called dad their whole life wasnt of blood relation.

"There are still a million questions, but those well never get the answers to, and we just have to accept what it is, and we happily accept what this is. And Im very happy to have found our siblings and to know that we have this whole other side to our family that we never even knew about, Lynch said.

The twins say theyve remarked to each other many times through the years that it felt there was a piece missing.

Growing up both me and my sister felt like we were missing something, we werent whole. And that feeling had carried on into adulthood. And once this was discovered, I felt like there was huge healing. That hole was filling up and I no longer feel like theres something else out there. That I really feel complete now, Hamm said.

The siblings said they have several hobbies in common, and all share a deep love for animals.

"For us, it was just an instant warm connection that we all felt and it just felt normal. Very fortunate for that as well, Karla Lynch said.

Some of the siblings share a passion for cooking and baking. Theyre now shuttling homemade cookies across the country, swapping old photos, and trying to catch up face to face on Zoom.

"It's crazy to be able to look at them and be able to see my dad. Our dad. Right there, John Schiavo, Jr. said.

The physical similarities stem from mannerisms. The family has even taken time to compare photos at different stages of life.

"I think the first time we were all on Zoom, we were all playing with our hair and it was just very interesting to see these little mannerisms that you see where you come from you see the similarities, Lynch said.

While there were inklings of some kind of a story about siblings to the two eldest children through other relatives, it wasnt until August when the pieces came together.

The genetic testing and analysis company 23andMe notified the group of some new possible genetic matches in their family tree. One conversation led to another, with seemingly countless questions.

"When all this happened there was all this confusion. Did he know, how could he know, did he not know, how could he know and not be there? And all of these questions were bombarding me, explained the youngest sibling Irene Schiavo.

Irene questioned extended family members and beyond hoping for more insight. She says the result helped her heal.

"I called old neighbors, who maybe they were having a conversation in the street one day. And out of that, I got a myriad of incredible stories about our dad that I just never knew. Things that he said to a cousin, things that he said to a neighbor, she said.

The shared father, John Sr, passed away in 1990. The mother of the two eldest siblings, who grew up with their shared father, and the mother of the twins have both passed away. They are left to try to put the pieces together of what happened and why. They still havent figured out how the parents had met, and they may never know.

"It's 50 years of not being with them, around them, and their families. So it's a little disappointing. But I'm happy that were able to find this out through this wonderful thing called 23andMe," John Schiavo, Jr. said.

Hamm shares a different shade of the same emotions.

"As a little girl, I was upset not growing up with a dad. Knowing today that I did have a father who could have stepped up and been that role model father figure for me, and I was denied. My twin sister and I were denied that. [It] was hard. It was a hard pill to swallow in the beginning," Hamm said.

As the discovery unfolded in the middle of a pandemic, they have kept their meetings to a virtual setting until the time comes when they can physically hug and greet each other.

"We're just so excited that we want to get together somewhere and soon," Otway laughed.

Now, they meet for a Zoom call for two hours every Sunday, and text each other day, sharing a sense of closeness and communication.

Genetic site 23andMe says this type of reunion story is growing more common with their services.

"Although 23andMe was not designed specifically to help people confirm parentage or find biological parents, our DNA Relatives tool does help people find and connect with participating genetic relatives. This feature is completely optional, meaning customers must actively choose to participate and are informed upfront that by using the tool, they may discover unexpected relationships, according to Communications Director Andy Kill.

23andMe also said it offers additional support, information, and resources to customers who are navigating new roads.

"We've created a specific help page as a resource for those looking for more information on the accuracy of our relationship predictions, stories from others who may have experienced a similar situation, and suggested resources for additional counseling support such as BetterHelp and Talkspace," Kill said.

The siblings cant wait until their in-person reunion.

"It's a wonderful thing that that question mark was always inside me is no longer a question," Hamm said.

This story was first reported by Ashleigh Walters at WPTV in West Palm Beach, Florida.

Originally posted here:
'For us, it was just an instant warm connection:' 5 siblings to unite for the first time - KXLH Helena News

A recent comprehensive study called Global Preimplantation Genetic Testing Market 2020 by companies, regions, types and applications with a forecast up to 2025 makes a serious attempt to identify current market and competitive ideas, as well as information about regions and consumers. The report focuses on analyzing market size, trends, share, growth and driving forces. The report covers all aspects related to current trends, profitability, regional valuation and plans to expand the business of key players in the global Preimplantation Genetic Testing market The study provides an overview of the market, scale of development, market dynamics, growth challenges and influencing factors. The report includes an analysis of the key moments of the global market by major key players, by type, by applications and leading regions, as well as by segment.

Get A Sample Copy of Research Report at: https://www.adroitmarketresearch.com/contacts/request-sample/1483?utm_source=bh

This part of the study looks at the events and future opportunities that are estimated to emerge in the global Preimplantation Genetic Testing industry. The report also sheds light on the competitive landscape by highlighting the corporate strategies that established players across geographic regions have used to move the industry forward. The research focuses on business consulting, industry chain research and consumer research to help clients propose non-linear revenue models in this market.

The Prominent Players of the Preimplantation Genetic Testing Market Are:

Thermo Fisher Scientific, Inc., Agilent Technologies, Inc., PerkinElmer, Inc., CooperSurgical, Inc., Beijing Genomics Institute (BGI), Abbott Laboratories, Natera, Inc., Genea Limited, Rubicon Genomics, Inc. and Oxford Gene Technology

Market Analysis:

The report examines the market potential of key regions, as well as the advantages, opportunities and challenges, constraints and risks faced by key players in this industry. The report covers prominent players in the global Preimplantation Genetic Testing market with detailed SWOT analysis, financial overview and key events. Other information was also included such as company profiles, product images and specifications, sales revenue, price, gross margin, market share. The market overview broadly presents different types of products, applications, players and regions. The segmentation included in the report helps readers benefit from the selection of appropriate segments for the sector.

Competitive Analysis:

The report provides a clear overview of the competitive landscape and prospects, including global analysis of new products in the Preimplantation Genetic Testing market, financial overview, strategies and marketing trends. The analysts of the report offered a progressive look at various factors contributing or limiting market growth. The detailed information provided in the report includes a description of the company, core business, total company revenue, manufacturing capacity, price, revenue, as well as product presentation and recent developments.

Place a purchase order of this report @ https://www.adroitmarketresearch.com/researchreport/purchase/1483?utm_source=bh

Research Methodology

The market Research Methodology is based on both primary and secondary research data sources. It takes into account various factors affecting the Preimplantation Genetic Testing industry such as historical data and market trends, various government policies, market environment, market risk factors, market constraints, technological advances, upcoming innovations, and industry barriers.

Impact of Coronavirus (COVID-19) on Global Preimplantation Genetic Testing Market

Coronavirus (COVID-19) is spreading around the world, having a serious impact on the economy and the global market. The report examines the impact of COVID-19 on the global Preimplantation Genetic Testing market across all segments, regions, countries and key players. North America and Europe are the countries hardest hit by the coronavirus and are key players in the global economy. The report provides a detailed analysis of market impact, growth strategies, supply disruptions in China, consumption patterns in the global Preimplantation Genetic Testing market

Global Preimplantation Genetic Testing Market Segmentation

Segmentation by Type:

by Test Type (Aneuploidy, Structural Chromosomal Abnormalities, Single Gene Disorders, X-linked Disorders, HLA Typing, Gender Identification) and Technology (Next Generation Sequencing, Polymerase Chain Reaction, Fluorescent In-Situ Hybridization, Comparative Genomic Hybridization, Single Nucleotide Polymorphism)

Regional and Country- Level Analysis:

Various geographic areas have been comprehensively explored and an economic scenario has been proposed that will help new entrants, leading market players and investors regulate emerging economies. Leading manufacturers and consumers pay attention to production, production capacity, cost, consumption, growth opportunities and market share in these key regions, covering: North America (USA, Canada, Mexico), Asia-Pacific region (China, Japan, South Korea. .. India, Australia, Indonesia, Thailand, Malaysia, Philippines, Vietnam), Europe (Germany, France, Great Britain, Italy, Russia, the rest of Europe), Central and South America (Brazil, the rest of South America), the Middle East and Africa (GCC, Turkey, Egypt, South Africa, Middle East and Africa)

Access full Report Description, TOC, Table of Figure, Chart, etc. @ https://www.adroitmarketresearch.com/industry-reports/preimplantation-genetic-testing-market?utm_source=bh

1. Executive Summary2. Assumptions and Acronyms Used3. Research Methodology4. Market Overview5. Global Market Analysis and Forecast, by Types6. Global Market Analysis and Forecast, by Applications7. Global Market Analysis and Forecast, by Regions8. North America Market Analysis and Forecast9. Latin America Market Analysis and Forecast10. Europe Market Analysis and Forecast11. Asia Pacific Market Analysis and Forecast12. Middle East & Africa Market Analysis and Forecast13. Competition Landscape

To identify correctly major underlying market forces that gradually underpin growth To comprehend future growth potential of the mentioned segments, inclusive of geographical outlook. A thorough evaluation of the entire competitive landscape gamut has been analyzed, isolating growth rendering strategies and industry forerunners To correctly isolate growth enablement determinants. The report lends clarity in understanding the commercial viability of the Preimplantation Genetic Testing market ecosystem.

Read the original:
Preimplantation Genetic Testing Market 2020 Top Countries Market Analysis and Opportunity Assessment 2025 Research Report - Farming Sector

Breast cancer can be devastating, and unfortunately, its not uncommon. There are more than 35 million women with a history of breast cancer in the U.S., and its death rates are one of the highest among all cancers, exceeded only by lung cancer.

Considering some women inherit gene mutations that can increase their risk of a diagnosis, genetic testing, which uses DNA to identify harmful mutations of the BRCA 1 and BRCA 2 genes as well as other high-risk gene mutations, can be an invaluable resource for those who meet the testing criteria. That gauge includes those with a personal history of certain types of cancers, those who experience an early age onset of certain types of cancer (this is generally defined as 50 and younger) and those with a combination of certain types of cancers (such as breast, ovarian, prostate, and pancreatic) within their family history.

Armed with information from a genetic test, genetic counselors can then equip people with the information needed to make an informed decision, says Altovise T. Ewing, PhD, LCGC, a licensed, certified genetic counselor and genomic health equity scientist. In some cases, a genetic testing result could help guide the type of treatment that is offered to a patient or it could allow us to better tailor and personalize the types and frequencies of screening modalities that are recommended.

And your results may not just be beneficial to you. The information is also helpful for family members because if we know that there is a gene mutation present in the family, then we know that first-degree relativeschildren, siblings, and parentshave a 50 percent chance of carrying that same gene mutation. says Ewing. In some instances, this could help prevent the occurrence of cancer in family members or offer the opportunity for early detection.

These four womenall in different parts of their journeyreceived genetic testing. Here, they open up about their diagnosis, why they got genetic testing, and how it informed the next steps in their fights against cancer.

Note: When considering genetic testing, its important to talk with your physician about if and how it may benefit you.

Lyndsay Levingston

In the summer of 2019, Lyndsay Levingston Christian felt a lump in her right breast while doing a self-exam in the shower. Fear washed over her. I was scared to even think it was the C word, Christian says. But after numerous screeningsa regular mammogram, a 3D mammogram, an ultrasound, and a biopsy of the grape-sized mass, which hurt so bad, her worst fears were confirmed. Her doctor diagnosed her with Stage IIB breast cancer. I cried and cried, says Christian.

Christian, who is a multimedia talent and host, and an adjunct communications professor who teaches media writing, relocated from New York City back to her hometown of Houston to undergo treatment. This way, her family could be nearby to support and care for her. Her plan: Fifteen rounds of chemotherapy (which she started in August 2019), a lumpectomy to remove any remnants of the mass, and six weeks of radiation. In October, midway through Christians treatment, she received a call from a paternal female cousin who was diagnosed with breast cancer at age 29, making her aware of her familys history with the BRCA 1 gene mutation. I learned that Im the thirteenth women on my dads side to be diagnosed with breast cancer, Christian says.

Because of this new information, her care team advised she have a genetic test. The results revealed I was positive for the BRCA 1 gene mutation, which puts me at a higher risk for breast and ovarian cancers. (According to the Centers for Disease Control and Prevention, 10% of ovarian cancers result from inherited mutations in the BRCA1 and BRCA2 genes.) The news put a wrinkle in Christians surgical treatment plan. In fact, it totally flipped her plan on its head. I went from thinking I was just going to have a bit of tissue removed to my doctor now recommending a bilateral mastectomy to remove both of my breasts. And based on the results of that, no radiation, prayerfully, would be needed.

The BRCA1 gene runs rampant on the paternal side of my family. Knowing this earlier could have changed the trajectory of my health journey.

On December 30, Christian rang the bell, a tradition among cancer patients signaling the end of chemotherapy. It was very symbolic for me. It was me ringing out of this part of my journey and ringing into the new year chemo-free. Since then, Christian has had a bilateral mastectomy, gotten reconstructive breast surgery, and has also had her ovaries and fallopian tubes removed as a preventative measure. And on February 14, 2020, her doctor called to let her know she was in remission.

Looking back, Christian, who wasnt as close with her dads side of the family, wished she had been more knowledgeable of her family health history. The BRCA1 gene runs rampant on the paternal side of my family. Knowing this earlier could have changed the trajectory of my health journey, she says. Yet she is still grateful for what she went through.

I got to reconnect with my mom and other family members during my treatment. I launched SurThriver, a platform that informs, inspires, and empowers women around breast cancer awareness and wellness, she says, adding, And most importantly I am alive.

Tina Pirozzoli

Last year, Deltra Kroemer, a full-time homeschool educator, began doing regular breast self-exams. Her decision came after she saw a friend, whod recently caught her breast cancer early, post on Facebook about the importance of the monthly exam.

During one of Kroemers self-exams, she noticed a good-sized lump. She wasnt worried since she didnt really have a family history of breast cancer, but decided to get it checked out anyway. Kroemer went to her long-time doctor who also felt the lump, and subsequently made her an ultrasound appointment, during which the technician became concerned and called for the doctor, who then scheduled a biopsy. At that point, I was in what is called scanxiety in the cancer community, and I hadnt even been diagnosed yet, she explains.

A few days later, while in the midst of baking with her five daughters ages 14, 13, 10, 7 and 5 Kroemer received a call from her oncologist. She took the call in the bathroom so she could have privacy. Her doctor said that unfortunately the results werent what we were hoping. Its cancer. In shock, Kroemer gathered herself, took a deep breath, and went back to baking with her kids. I didnt really give myself the opportunity to have a breakdown until later that day. And her diagnosis certainly didnt feel real to her until she heard herself telling her husband, her mother, and her sister.

Kroemer would not find out for another month that her diagnosis was De novo Stage IV metastatic, meaning her cancer had already spread beyond her breasts at the time of her initial diagnosis. (The majority of patients with this type of cancer do not survive for more than 5 years after diagnosis.) The cancer was already in my liver when I was screened for staging, she explains. Kroemer immediately began researching, speaking with other cancer patients with her same diagnosis, and getting second opinions. People thought I was crazy because I took a whole month to decide what I wanted to do, but there was no rushing me, explains Kroemer, who said she was arming herself to start her battle, which began in August 2019.

Whats more important to me is not the time that I have left but what I do with that time.

Her doctors had ordered several tests right off the bat, including a genetic test, so Kroemer knew she had the BRCA1 gene mutation. Kroemer asked her team to consider her chances of developing other cancers, like ovarian, which was higher for her, with her mutation, than for the average person. So, as a preventative measure, she had her ovaries removed at the recommendation of her care team.

Genetic testing also put her on alert as it pertains to the health of her daughters, since they, too, can have the gene mutation. While they are too young to be tested, I do talk to my oldest children about the gene mutation Im living with, she says. Not often, as I don't want to create anxietyhaving a mother who is living with cancer can do enough of thatbut I do want them to understand the increased risk, she says.

Despite a Stage IV diagnosis, Kroemer didnt want to just start with hardcore chemo, which is one reason she and her care team decided to do immunotherapy followed by chemotherapy. Initially Kroemer responded well to her treatment course, which required her to be at the cancer center for three and four hours at a time. It shrunk the mass in her breast way down and knocked out the singular metastasis on her liver. By April 2020, though, she could feel the lump in her breast again. A mammogram and a biopsy confirmed her lump had started re-growing, its biology had changed, and the current treatments were no longer working.

While Kroemer, who is currently considering having a lumpectomy, is still undergoing treatment, she still reminds herself to Live your life to the fullest. Whats more important to me is not the time that I have left but what I do with that time. I am thinking about the legacy I want to leave.

Most of the women on Carmela Fucas maternal line have breast cancer, including her mother and grandmother. Through genetic testing, her mother tested positive for a BRCA gene mutation (and later had a double mastectomy), prompting both Fuca and her brother to also have genetic testing. Fuca, who then was about 25, found out she too was positive for the mutation.

My initial reaction was I am going to get a preventive double mastectomy right away, says Fuca, who had just graduated from Teachers College at Columbia University and was about to move to England to start her career. But after thinking about it more, she decided she wasnt ready to have an elective surgery, so she put a pin in it. Its really hard when you are completely healthy to have a surgery like that, she says.

However, as Fuca neared 30, she decided it was time, and scheduled her double mastectomy for February 2020. My mother was 41 when she was diagnosed with breast cancer. With each generation the cancer usually occurs earlier. So I knew as I got older, my risk of cancer was increasing, Fuca says. Two weeks prior to her surgery, Fuca began grieving the impending loss of her breasts.

I was really upset, stressed out and crying all the time, and I realized that it wasnt doing me any good. So, to mentally prepare myself for my surgery, I started to look at myself and appreciate my natural body. One day I was touching my breasts and I thought my tissue isnt going to feel like this anymore, she says. Thats when she felt a golf ball-sized lump. Fucas biopsy results, which she learned the morning before her surgery, revealed she had breast cancer, but they were unable to tell whether it was Stage II or Stage III. (A week post op, her oncologist informer her it was Stage III Triple Negativea very aggressive form of cancer.)

The month between chemo and radiation was probably the hardest part of this whole journey. I was able to stop just coping and actually deal with all of my emotionsit was rough.

Her doctor encouraged her to come in to talk through other possible treatments, like chemotherapy, but Fuca just wasnt able to process what her doctor was telling her. I was instantly full of anger and regret, she says of her decision to wait so many years to have surgery, thinking that if she had acted sooner, she may not have cancer now. Plus, she had scheduled a photo shoot to preserve the memory of her breasts and she didnt want her recent diagnosis to ruin that, so she suppressed her feelings and told her family she didnt want to talk about it. The next day, she went in and had her double mastectomy.

After the surgery, she learned the cancer had spread to her lymph nodes and that she would need additional treatment. Concerned that chemotherapy would cause reproductive issues, Fuca and her partner had to jump from family planning mode to fertility preservation. After completing in vitro fertilization (IVF), Fuca did four months of an aggressive regimen of chemotherapy, had a month break, and then resumed treatment with radiation for another three weeks. The month between chemo and radiation was probably the hardest part of this whole journey, says Fuca. I was able to stop just coping and actually deal with all of my emotionsit was rough. Not to mention COVID-19 made things harder as she was forced to do all of her treatments alone.

These days, Fuca, whose blog Previvor2survivor is a resource for prevention, treatment tips, fertility preservation, and mental wellness, says she is starting to regain her strength and energy. She also notes that this process has taught her to be kinder to herself. Ive gotten good at reframing my perspective, she says, knowing when I can be tough and when I cant and when I can be positive and when its not realistic.

Brenda Dixon

Two days after Brenda Dixon, a retired Georgia Public Health Medical Laboratory technologist, had her annual mammogram, she got a call saying that they had found something on her scans. The mass was at 12 oclock on her right breast and roughly 5 mm in size. She was told that she needed to come back in for further testing so that they could determine whether it was a benign cyst or cancerous. So Dixon went back in to see her doctor and have an ultrasound. Two days later she received her results: It was Stage I breast cancer and it was hormone receptor positive, which is a slow growing, non-aggressive type of cancer. I remember seeing the number on the caller ID and knew it couldnt be good, says Dixon.

I will never forget that call. I was happy that they at least caught the cancer early, so I felt some relief, but the stress and anxiety of the cancer was still building. It was devastating.

Dixons physician explained that genetic testing was an option, and one that she should take, considering there was a history of cancer on her fathers side.

Dixons physician explained that genetic testing was an option, and one that she should take, considering there was a history of cancer thyroid, ovarian, prostate, and breast on her fathers side. Dixon decided to take the test. Initially, the discussion, based on the size of the mass and that it was Stage I, was to have a lumpectomy as opposed to mastectomy, she says. Dixon decided to go with her doctors recommendation, but kept in mind that if the genetic testing results showed that she had any cancerous gene mutations, she would consider a mastectomy. It turns out I didnt have any mutations, so we decided to continue with the original plan of a lumpectomy, which Dixon had on November 5. And even though Dixon did not test positive for any hereditary gene mutations, she says that she has been sharing the information with her family and encouraging genetic testing because of their family history.

During her lumpectomy, the doctor also took out her sentinel lymph node, which is located in the underarm closest to the breast cancer to check and see if the cancer had spread. Thankfully Dixons lab results came back clear, and she will be soon be starting radiation. Her team has not yet determined if she will need chemotherapy.

As Dixon continues on her journey, she notes that her strong support system has been integral in helping her stay on top of all of the information being thrown at her, keeping her spirits up, and for those who have experienced their own cancer diagnoses, serving as a source of inspiration. I look at how they came through it and that means I can too, she says, noting that one of the most important lessons shes learned during this process so far is to pay attention to your body. It talks to you, we just dont always pay attention.

This content is created and maintained by a third party, and imported onto this page to help users provide their email addresses. You may be able to find more information about this and similar content at piano.io

Excerpt from:
4 Women Share The Role Genetic Testing Played in Their Breast Cancer Treatment - Oprah Mag

Genetic Testing to Establish Strong Foothold in Current and Future Healthcare System

The notable rise in the demand for hereditary genetic testing over the past few years is one of the major factors that is expected to fuel the growth of the global genetic analysis services market in the upcoming decade. Technological advancements coupled with the drive to discover new and innovative genetic analysis techniques are set to shape the overall growth trajectory of the global genetic analysis services market during the forecast period. Over the past decade, the genome testing sector has witnessed consistent developments due to which, the global genetic analysis services market is anticipated to expand at an impressive rate during the assessment period.

Read Report Overview - https://www.transparencymarketresearch.com/genetic-analysis-services-market.html

Hereditary genetic testing has emerged as ideal, and a rapidly evolving technology within the genetic analysis services market. This is likely to continue, owing to advancements in technology and findings of research activities. The increasing demand for improved and cutting-edge prediction and diagnostic tools and services coupled with surge in demand for disease monitoring is anticipated to play a key role in the overall growth of the global genetic analysis services market during the assessment period.

Request Brochure of Report - https://www.transparencymarketresearch.com/sample/sample.php?flag=B&rep_id=2555

Healthcare experts and credible researchers around the world are of the opinion that genetic testing is expected to be the future of the healthcare ecosystem. Advancements in the biomedical field coupled with the notable rise in the number of companies that are developing new genetic-testing kits are expected to augment the global genetic analysis services market during the forecast period. Moreover, as interest levels for precision medicine continues to witness sizeable growth around the world, as a result of which the demand for genetic analysis services is projected to grow at an impressive pace.

Request for Analysis of COVID-19 Impact on Genetic Analysis Services Market- https://www.transparencymarketresearch.com/sample/sample.php?flag=covid19&rep_id=2555

Uptake of Next-generation Sequencing and Multi-gene Tests to Drive Market

Advancements in the genetic technology are likely to play an instrumental role in shaping the growth trajectory of the global genetic analysis services market during the forecast period. Furthermore, due to advancements in technology, the scope of genetic testing has widened by a considerable margin due to which, the demand for genetic analysis services is increasing. While genetic analysis services in the past were largely time-consuming and cumbersome, at present, increasing speed and availability of genomic testing are anticipated to present a plethora of opportunities to the players involved in the current market landscape for genetic analysis services.

Request for Custom Research - https://www.transparencymarketresearch.com/sample/sample.php?flag=CR&rep_id=2555

In addition, the gradual shift in the point of access to testing is evolving, as more number of consumers can avail genetic analysis services outside the healthcare setting. Advancements in genetic medicine at the back of advancements in technology are likely to bolster the growth of the global genetic analysis services market during the assessment period.

Pre Book Genetic Analysis Services Market Report - https://www.transparencymarketresearch.com/checkout.php?rep_id=2555&ltype=S

Research and Development Activities in Full Swing amid COVID-19 Pandemic

Research and development activities are expected to continue in full swing amid the ongoing COVID-19 pandemic. The significant rise in the demand for genetic counseling services during the ongoing COVID-19 crisis is anticipated to generate consistent revenue for the players involved in the genetic analysis services market. Furthermore, researchers and scientists are increasingly focusing on discovering genetic mechanisms that are required to prevent the spread and transmission of the novel coronavirus disease. Genetic research is estimated to unlock various intricate details of the novel coronavirus, thereby opening up new opportunities for mitigation. The ongoing research pertaining to genetics and its correlation with the ongoing pandemic is expected to provide a detailed and microscopic understanding of the overall cellular mechanisms of the virus.

About Us

Transparency Market Research is a next-generation market intelligence provider, offering fact-based solutions to business leaders, consultants, and strategy professionals.

Our reports are single-point solutions for businesses to grow, evolve, and mature. Our real-time data collection methods along with ability to track more than one million high growth niche products are aligned with your aims. The detailed and proprietary statistical models used by our analysts offer insights for making right decision in the shortest span of time. For organizations that require specific but comprehensive information we offer customized solutions through ad hoc reports. These requests are delivered with the perfect combination of right sense of fact-oriented problem solving methodologies and leveraging existing data repositories.

TMR believes that unison of solutions for clients-specific problems with right methodology of research is the key to help enterprises reach right decision.

Contact

Mr. Rohit BhiseyTransparency Market Research

State Tower,

90 State Street,

Suite 700,

Albany NY - 12207

United States

USA - Canada Toll Free: 866-552-3453

Email: sales@transparencymarketresearch.com

Website: https://www.transparencymarketresearch.com/

Read more:
Genetic Analysis Services Market: Uptake of Next-generation Sequencing and Multi-gene Tests to Drive Market - BioSpace

"GBinsight reflects the biological complexity of humans and, through comprehensive genetic testing and analysis, facilitates precise diagnosis and targeted treatment and prevention," said Dr. Mendel Roth, Senior Scientist at GBinsight.

SAN DIEGO (PRWEB) December 17, 2020

Genetics was a major theme of the National Lipid Associations (NLA) Scientific Sessions, December 2020. Genetic testing for lipid disorders, polygenic risk scores for atherosclerotic cardiovascular disease (ASCVD) and the implications of genetics on clinical care, medical ethics and identifying individuals at high risk and preventive strategies were among the headlining topics. The clinical utility of GBinsight comprehensive genetic testing and analysis was highlighted by several leading physicians and scientists throughout the sessions.

Dr. Christie M. Ballantyne, Professor of Medicine and Genetics at Baylor College of Medicine, started off his presentation reflecting on the current state of clinical cardiovascular genetics, noting how wonderful it is to see where we are now and what the impact of genetics will be on how we practice preventive cardiology. Dr. Ballantyne then reinforced the statements of a previous presenter and another client of GBinsight, Dr. Zahid Ahmad, Assistant Professor of Medicine at the University of Texas, Southwestern, highlighting the clinical benefits of genetic testing for dyslipidemias and ASCVD patients including how definitive diagnoses increase the likelihood of payer coverage and provide more accurate risk stratification, enhance cascade screening that may prompt initiation of therapies at an earlier age, and allow for more precise medication regimens.

Drs. Christie Ballantyne and Zahid Ahmad, both GBinsight collaborators, emphasized that there is a 50% chance of passing on heterozygous familial hypercholesterolemia (FH) to ones children. Genetic testing is the preferred method for screening young family members of adults with FH. The earlier a person is diagnosed, the sooner he or she can begin lifestyle and drug therapies that reduce risk of ASCVD.

The clinical applications of GBinsight were demonstrated by several presentations and posters from Baylor College of Medicine, UT Southwestern, and the University of Pennsylvania. Case studies of patients referred for severe hypertriglyceridemia, pancreatitis, and type 2 diabetes were showcased. GBinsight's Comprehensive Dyslipidemia Panel identified pathogenic genetic variants causal for familial partial lipodystrophy (FPLD) in these patients and allowed physicians to identify precise diagnoses and offer precise therapies. GBinsight analyzes the multitude of pathways that cause severe hypertriglyceridemia beyond LPL deficiency.

GBinsight recognizes the biological complexity and heterogeneity of humans and, through comprehensive genetic analysis, facilitates precise diagnosis. GBinsight comprehensively analyzes the genetics of the multitude of pathways that can cause dyslipidemia and ASCVD in a single assay, said Dr. Mendel Roth, Senior Scientist at GBinsight.

GBinsight differentiates itself from other genetic testing services in several important ways: 1) Since ASCVD risk is ultimately determined by additive risk factors, GBinsight analyzes broad risk categories within a single comprehensive assay. This includes hypercholesterolemia, hypertriglyceridemia, reverse cholesterol transport defects, high Lp(a), homocysteinemia, familial obesity and familial diabetes. The analysis includes copy number variations that are a common cause of dyslipidemias. 2) Analyzes both rare, large-effect sized, monogenic variants largely in coding and splicing regions of genes as well as common, small-to-moderate-effect sized variants that contribute to polygenic risk in a single assay. 3) This assay includes full coverage of the APOE gene that is an underappreciated genetic cause of dyslipidemias and ASCVD. The APOE gene presents a technical challenge in getting quality sequencing results. 4) Analyzes both single nucleotide polymorphisms (SNP) known to increase and decrease Lp(a) levels as well as directly quantifies the variable Kringle-IV region. 5) Analyzes pharmacogenomics including the multiple genetic causes of statin intolerance.

GBinsight is the only next-generation sequencing (NGS) test that can directly quantify the variable region within the LPA gene which is the single greatest cause of high Lp(a), said Dr. Roth. GBinsight employs a machine-learning algorithm that assesses the comprehensive genetic basis of high Lp(a).

GBinsights scientific team has collaborated with key clinical opinion leaders to explore and validate the clinical utility of comprehensive genetic analysis for dyslipidemia and ASCVD. For example, using monogenic and polygenic analysis, up to 80% of patients referred to GBinsight for FH and other dyslipidemias was correctly identified. Of those with high Lp(a), validation results showed an overall accuracy of 84% with a sensitivity of 82% and specificity of 87%. Including the direct quantitation of the variable polymorphism increased the accuracy call by 23 percentage points. These results were formulated in partnerships with Drs. Christie M. Ballantyne, Michael Davidson at University of Chicago, Patrick Moriarty at University of Kansas, and Sotirios Tsimikas of University of California, San Diego and presented at the NLA Scientific Sessions.

GBinsight NGS services are performed at a CLIA-certified and medically licensed genetic testing laboratory using Illuminas HiSeq platform.

GBinsights Test Catalog includes the following:

Because genetic risk for most common metabolic diseases can be mitigated by dietary and lifestyle factors, in addition to GBinsight comprehensive genetic analysis, GB HealthWatch also developed the HealthWatch 360 mobile app for delivering dietary and lifestyle interventions to the general population. The app works in conjunction with the HealthWatch 360 Research Portal, which allows researchers to manage and analyze the diet, exercise and health data collected with the mobile app. Integration of GBinsight genetics panels with the research portal advantageously enables researchers to study gene-gene and gene-lifestyle interactions in observational and interventional cohort trials. With this system, prevention and medical intervention strategies, and especially dietary interventions, for complex diseases can be experimented with, validated and refined. Given the epidemic of diet-induced chronic diseases in the United States and worldwide, it is imperative that we focus our efforts on precision nutrition as a key preventive strategy for improving the health of our future.

GBinsight was developed by GB HealthWatch in partnership with the Otogenetics Corporation, a CLIA-certified and licensed medically licensed genetic testing company.

About GB HealthWatchGB HealthWatch is a nutritional genomics company. We develop state-of-the-art technologies to facilitate research on the molecular mechanisms, clinical efficacy and cost-effectiveness of translating genetic insights into personalized prevention and treatment strategies for complex diseases. GB HealthWatch offers the following tools:

About Otogenetics CorporationOtogenetics Corporation is a CLIA-certified and licensed medical genetic testing company specializing in next generation sequencing services. Otogenetics offers high quality services for genome, exome, and RNA-seq for government and academic institutions, biotechnology and pharmaceutical companies, as well as medical doctors and clinics. Additional services and products provided by Otogenetics Corporation can be found at: http://www.otogenetics.com

Share article on social media or email:

Link:
Clinical Utility of GBinsight Comprehensive Genetic Testing Showcased at the 2020 National Lipid Association's Scientific Sessions - PR Web

Context

The promise of precision medicine hinges on our ability to use highly personal data about individuals and populations to prevent, screen, diagnose or treat patients with disease.

Healthcare providers are increasingly using genetic information as a routine part of prenatal, pediatric and cardiovascular care. The use of genetic information is even more common in the areas of rare disease, oncology and pharmacogenomics (looking at how genes affect a person's response to drugs).

Beyond these more specialized disciplines, population screening for actionable hereditary health risks is of interest to many healthcare organizations. The explosion in popularity of direct to consumer genetic testing is allowing many members of the public to learn more about their predisposition to certain health conditions like cancer and heart disease. Patients and the general public want to consider this information in health and healthcare decisions, and researchers, along with innovators in the genetic testing and support services industry, are increasingly advocating for its inclusion in clinical practice.

Many experts and innovators argue that genetic testing should become a routine part of clinical care as a means to identify and treat diseases. It would enable a more proactive approach to identifying risks and establishing management strategies for a population-wide precision medicine experience.

Most healthcare organizations and physicians are not incorporating these tests into routine practice. After an extensive scoping exercise, the Forums precision medicine team found that the most significant barrier to moving genetic testing into clinical practice for broader populations is the lack of coverage for genomic testing i.e., that a physician or healthcare institution will not be reimbursed for the process of ordering and returning the results of a test.

While this is an over simplification of the complexity of the situation, there is general discomfort that the science on which many of todays genetic and genomic tests are based is still evolving, and thus many physicians and payers are unsure of the utility of genetic testing to drive clinical care decisions in the large, diverse populations they serve.

We plan to explore, design and test incentives to accelerate building the evidence base for clinical efficacy and utility as a way to increase coverage of genetic testing and screening. Increasing the evidence base serves two purposes: to improve physician comfort with the clinical utility of such tests and to demonstrate to payers that tests do elicit action for the populations that they cover. Increasing the incentives for payers to cover genetic tests would allow clinicians and patients to significantly contribute to building the evidence base for the utility of genetic tests in real world settings. This in turn enables population-wide genetic testing that, over time, will drive our ability to personalize the way we treat, mitigate or manage health risks to patient populations. This project will involve several steps:

- Validate key barriers to genetic screening and testing, considering different models of healthcare delivery, cultural and ethical expectations, and stages of healthcare-system development

- Determine which genetic testing use case(s) can be the focus of stakeholder dialogues and activities

- Create original, new analysis of the economic value of genetic testing across four use cases: cancer testing, rare disease testing, population health testing, and carrier testing

- Identify, design and pressure test incentives to address the gaps leading to low or inconsistent levels of coverage

Impact

The project will address a foundational element of precision medicine: our ability to effectively deploy genetic screening and testing into routine clinical care. To do so, healthcare providers must be confident that genetic screening tests provide them with value and with actionable results for the populations which they serve. Payers need to know that tests are clinically actionable, and lead to improved outcomes for patients. This project will focus on the value of genetic testing and incentives to generate sufficient proof of the utility genetic testing for healthcare providers and the payer community globally.

Excerpt from:
Moving Genomics to the Clinic - World Economic Forum

For years, Summer Heidedidn't eat spicy food because the slightest indigestion would trigger fears that she had stomach cancer.

She would lay awake at night, terrified that she would die and leave her children without a mother.

Heide, a32-year-old farmerfrom southeastern Saskatchewan, isn't a hypochondriac. A rare and deadly stomach cancer runs in her family, andsince learning she inherited a gene mutation that could cause cancer,she's beenforced to make agonizing decisions andtakedrastic steps to save her own life.

"It was just too much fear over the unknown," Heide said. "There was always the little bit of 'When is the ticking time bomb going to go off? When might I get the cancer?'"

Heide was only a toddler when her aunt, RoseMarie Lawrence, passed away from stomach cancer in 1991. She was just 29 years old.

That kind ofstomach cancer, known as diffuse gastric cancer, isparticularly sneaky. Cancer cells grow in loose clusters not a tumour that can easily move and multiply in the stomach lining. Initial symptoms, such as heartburn, seem innocuous.By the time the cancer is detected, it's usually too late.

Heide's uncle, Luke Lawrence, RoseMarie's husband, remembers asking the doctor whether their two children were at risk of getting the cancer.

"I was very concerned for my children because I knew nothing about cancer," he said. "[The doctor] says, 'Cancer is not contagious.' At that time, they didn't know anything about hereditary forms of cancer."

Sixteen years later, his daughter Erin, Heide's cousin, was diagnosed with the same cancer that had killed her mother.

She was 20 years oldand passed awaywithin seven months.

Before she passed away, doctors suggested Erin getgenetic testing. She took a blood test, one that didn't exist before her mother died, and discovered she had a rare mutation in the CDH1 gene that causes Hereditary Diffuse Gastric Cancer Syndrome. It's a disorder that can pass down through families and puts people at a high risk for developing stomach cancer at a young age.

A child has a 50 per cent chance of inheriting the gene mutation from a parent who is a carrier.

"We didn't know none of this until it was far too late because Erin had already been diagnosed with Stage 4 of this form of cancer,"Luke Lawrence said."So [the testing] was to create an awareness for the family, more so than what we could do for Erin. That's why we did it."

The family calls it "Erin's Gift."

In 2007, Heide and seven other family members went for predictive genetic testing to see if they also carried the gene mutation. Five tested positive, including her grandmother, her fatherand herself.

Heide was 19 when she got the results.

"It was devastating, obviously, but I think I was so young and naive that I didn't actually think about what that meant," shesaid.

What it meantwas Heide'schances of developing the deadly stomach cancer by age 80 were as high as83 per cent. Womenwho have themutationalso have an estimated 60 per centrisk of developing lobular breast cancer in their lifetime.

WATCH | Rare and deadly stomach cancer runs in Saskatchewan woman's family:

Demand for cancer-related genetic testing has increased exponentially over the past two decades, according to the Canadian Association of Genetic Counsellors. Referrals tosome genetic testing clinics in the country have doubledor even tripledin recent years.

"Patients are more aware of it, physicians are more aware of itand the testing has become better. The technology has improved," said Ingrid Ambus,a genetic counsellor at North York General Hospital in Toronto, adding that testing can now diagnose hereditary cancer syndromes beyond the more common ovarian and breast cancers.

Less than 10 per cent of cancers have hereditary causes, but researchers have identified more than 80 genes in which mutations can be passed down through families and potentially cause cancer.

Ambus said patients often find it"empowering" to know that a cancer runs in their family so they can seek counselling, screen for the cancer, make lifestyle changesor have preventative surgery.

A genetic counsellor advised Heide that the only way for her to prevent aggressive gastric cancer would be to remove her entire stomach, a procedure called a prophylactic total gastrectomy.

She met with a surgeon in 2007but was toldthere wasn't enough clinical information available at that time to guarantee that she could have children after a total gastrectomy.

She decided to wait.

Soon, she would have to make another difficult choice.

When Heide and her husband were ready to have children, they had the option to do in-vitro fertilization (IVF) with pre-implantation genetic diagnosis on her embryos. That would have allowed them to only implant embryos that didn't have the mutation.

"I didn't want to do that," Heide said. "I do feel like some feel, like, it's a little bit selfish, because I could spare my kids from having the gene. But I wouldn't get the kids that I have if I were to choose that, and I would never choose anybody different."

After Heide and her husband had their first two children, Mikka and Harlow, her anxiety began to grow. She was tortured by the fact that her cousin Erin had passed away just seven months after diagnosis. Heide wondered whether cancer was already forming inside her.

"No one would love [my daughters]like me. So every, like, Christmas or birthday, or any type of holiday, I would always go above take lots of pictures, make it perfect in case it was their last one with me," she said.

Heide still resisted the idea of getting an invasive surgery to remove her stomach.She was worried about long-lasting side effects, including diarrhea, vomitingand fatigue.

She'd also had one of her veins cut during a routine endoscopy a diagnostic test to look for cancer and began to vomit blood and lose consciousness.

"I was mentally making peace with myself and God that maybe my time had come. That shakes a person deeply," she said.

From that point on, she had adeepfear of medical procedures. She would schedulea gastrectomy, then cancel.

Then, in 2014, her younger sister, Ali Kowaluk, decided to get genetic testing.

Kowaluk admits she had procrastinated. Then shegot married and began to contemplate having children. She knew it was time to visit a genetic counsellor at the Royal University Hospital in Saskatoon.

She tested positive for the gene mutation and knew immediately that she would have the surgery.

Kowaluk had her entire stomach removed at the age of 23. Afterward, the surgeon told her that tests on tissues removed from her revealed Stage1cancer.

"So that was hard to hear, still hard to talk about. I don't talk about that part very much," Kowaluk said, choking up.

Undetected, the aggressive cancer would have certainly gone on to kill her. The surgery saved her life.

"I could not be here today," Kowaluk said.

Now a mother of one-year-old Winston, Kowaluk is shaken by how closeshe came to passing awaylike her cousin Erin.

Kowaluk's near-death experience was awake-up call for her big sister, Heide.

One night, after both of her daughters fell asleep during their bedtime story, one curled up under each arm, Heidelay there praying to God and silently sobbing. The next morning, she woke up with mental clarity. It was time to have the surgery.

"Knowing you carry a gene with such devastating potential is a heavy weight to carry. It was heavier than I could mentally handle any longer," she said.

Heide got her stomach removed at Calgary Foothills Hospital in 2015.

The recovery took nearly a yearand was excruciating, she said. She could barely get off the couch some days.

Two years after the surgery, despite not knowing if it was possible, she got pregnant and had a third child,a boy named Huxley. It seemed to reset her body, she said.

Today, Heide stands in her kitchen, sunshine pouring through the window, snacking on tiny bites of chicken and cottage cheese.

The 5-foot-5,105-poundwomaneats every couple of hours and only small amounts, because she doesn't have a stomach to digest and store food.She has to chew everything until it's mush, and eating and drinking fluid at the same time pushesfood into her small intestine too quickly and makes her sick.

Heide has reached a level of peace and confidence with her health that she hasn't had in years.

"Of course, I wish we didn't have this gene, but it's also a gift that we know about it, because I might not be sitting here today if I didn't know about it," she said.

Unfortunately, her worries aren't over.

"The worry about myself has now been put onto my kids, because I just worry and hope that none of them have the gene," Heide said,

Each of her three children, and Kowaluk's son, has a 50 per cent chance of inheriting the gene mutation. They can get tested when they're 18.

The two women hope that, by then, medical advancements will provide better options for testing, treatingand preventing the disease.

"I have high hopes for him," Kowaluk saidof her son, Winston.

Heide shares the same optimism.

"It's hard, but it is what it is. We're lucky that we get a chance at life."

Visit link:
Sask. woman who got stomach removed to thwart cancer describes life with 'ticking time bomb' - CBC.ca

ATLANTA, Dec. 16, 2020 /PRNewswire/ -- Elite Testing and Wellness at the Chastain Surgery Center is excited to announce the launch of innovative genetic testing and IV drip therapy services in the Atlanta market. The DNA tests are the future of health optimization and include a DNA fitness test, micronutrient test, pharmacogenomics test, and a food sensitivity test. Alongside the launch of genomic testing products, Elite is launching a full suite of IV therapy products. The IV Drips available at Elite will include a Beauty Drip, Immunity Drip, Hangover Drip, All-In-One Drip, Meyer's Cocktail Drip, and a Pre & Post Surgery Drip. Elite will also offer Custom IV Drips based on your micronutrient analysis to address vitamin and mineral deficiencies.

"We are excited about the launch of all the new products and services at Elite," says Managing Director of Elite Testing and Wellness, Courtney Rodriguez. "We started this business earlier in 2020 to help address the need for reliable, fast COVID-19 testing. As more providers have entered the area, we are transitioning the company to focus on the next generation of health optimization. We believe these new products and services are going to allow the people of Atlanta to take control of their health with some of the most innovative technology and approaches used around the world."

Elite Testing and Wellness is a new DNA testing center & IV Drip Therapy lounge in Atlanta. The DNA testing products and IV Therapy services work together to create a holistic approach to the future of health. With DNA testing, Elite helps patients gain access to important genetic data analysis on the impact of fitness, diet, pharmaceuticals, and more on their health. Elite works with patients to develop a fitness plan, diet plan, and IV therapy plan for optimal health & performance based on the patient's genetics.

Dr. Alan N. Larsen, Medical Director of Elite Testing and Wellness, had this to say, "We are proud to add Elite Testing & Wellness to the Alan N. Larsen Family of Brands alongside Buckhead Plastic Surgery, LUX Med Spa, and Chastain Surgery Center. The launch of these innovative products & services gives Atlanta a luxurious location for the future of health optimization."

To learn more about DNA Testing & IV Therapy, contact Elite Testing and Wellness at 404.689.6860

SOURCE Elite Testing and Wellness

View post:
Elite Testing and Wellness Launches Innovative DNA Testing and IV Therapy in the Atlanta Market - PRNewswire

OKLAHOMA CITY (KFOR) Behind one Oklahoma 8-year-olds infectious smile is a fighter.

Im smaller than most people, said Madison Cain.

Madison was born smaller than most babies, too, at 5 lbs. 9 oz.

She was teeny tiny, she calls herself a little itty-bitty baby,said Madisons mom, Melissa Cain.

For Madisons first year, Melissa says there werent many issues.

Around 15 months or so she quit growing in length, she quit gaining weight, and so that began our journey to figure out what was going on, said Melissa.

The Tulsa residents had no idea what this journey would entail.

By age two, Madison was diagnosed with hip dysplasia and cataracts.

She got those initial diagnoses treated, but still wasnt growing.

Then we really started thinking this isnt all adding up she doesnt grow, she has the hip thing, she has cataracts, there has to be something, said Melissa.

The family started genetic testing, while Madisons symptoms persisted.

Still low energy not growing well, said Melissa. She couldnt keep up with her peers, you know running and things werent the same we were doing all kinds of things and just not a lot of answers.

The Cains spent hours researching, and even more time at the doctors office, but it was years of dead ends.

No energy, sleeping 16 hours a day barely making it through school, not gaining any weight, said Melissa.She was 5 and weighed about 25-28 pounds, but she is the most easy going, not stressed out, tough child.

Madisons strength paid off.

A break-through finally coming in 2019.

The genetics doctor called and said here this is what it is, theres one published paper, with a patient with this. Its not her, so well just put it in a database and see if anything ever hits, said Melissa.

But as a nurse practitioner herself, Melissa sat down and read the article.

She realized it was written by doctors, just down the turnpike, at the Oklahoma Medical Research Foundation.

This is a new disease and were the first ones that discovered it, said Dr. Lijun Xia,Member and Chair, Cardiovascular Biology Research Program at OMRF.

Madison has rare gene mutation to the MBTPS1 gene.

Madison, inherited a wrong copy from her mother and the father so, therefore even though she has two copies of the gene both are wrong both have mutation, said Dr. Xia.

The mutation, resulted in a condition called Spondyloepiphyseal Dysplasia, Kondo-Fu type, or SEDKF for short.

The condition named after two of Oklahomas scientists.

The disorder hinders Madisons bone growth and development.

This is a very rare genetic disease,said Dr. Xia.

There are only two known cases in the state, Madisons and another girl named Sydney in Yukon, who was the first diagnosed.

Since publishing the article, OMRF now knows of about eight cases worldwide.

We have one contact us from Germany, one from Brazil, and theres also one from San Francisco, said Dr. Xia.

Doctors think that could be because many patients are misdiagnosed.

The mutation can also affect every patient differently.

However, theres hope on the horizon.

Researchers have come up with a possible treatment but need 50 patients for a clinical trial.

Now theyre searching for cases across the country.

Of course, I wish that we had the answer plus enough patients to do a trial and see if the treatment would work and Im hopeful that we can get there before her bones stop growing, said Cain.

The protein used for treatment has already been approved by the FDA to treat a different disease.

Researchers have tested the treatment on mice successfully.

For Madison, this treatment could mean everything.

It could change our life and change her life for the rest of her life, said Cain. We never thought weve get a Madison, but theres no one like Madison.

For more information visit the OMRF website.

Read this article:
Oklahoma researchers looking for additional patients across the US with rare genetic mutation - KFOR Oklahoma City

Genetics is a booming field for the next decade. One of the most obvious applications is genetic testing. In this field, I value the network approach used by Invitae (NVTA). The company intends to create a platform that brings together patients, clinicians, and payers, in a continuous service that can be accessed and updated anytime during the patient's life.

I've been shifting my attention to the genomic revolution. The reason is simple, and I've explained it in depth elsewhere. In a nutshell, the valuations are sky-high for most stay-at-home stocks, but the genomic space has been underfollowed and undercovered due to its complexity. Here, I intend to break down the main components of a genomic play and convey it in a digestible form. One previous example of that is my CRISPR analysis.

(Photo Credit: Eelke)

Basically, I see the structure of the industry as an ecosystem composed of three main parts. The first is testing tools like the ones provided by Illumina (ILMN). I've written about this company and how it has allowed a dramatic drop in sequencing costs. However, I've been reviewing my assessment, and I now think the Pacific Biosciences (PACB) might be well-positioned to be successful in the space. Be as it may, that will be a discussion for another time. The second is the test and diagnostic services. Companies that buy the testing tools and develop services around them. The third is companies that develop therapies around gene-related diseases. That's a simple formulation, but one that I believe provides a good enough framing.

The costs are falling for the companies in the industry. The cost of sequencing a human genome has been falling faster than Moore's law.

(Source: genome.gov)

That's huge because the costs were prohibitive for products and services based on genetic information to become massified. Now that companies are targeting the $100 per genome mark, we might watch the proliferation of services and products in that space. Additionally, these cost decreases should allow more companies to pursue genetic-related services and products outside of healthcare. Sectors like agriculture, aquaculture, health insurance, materials, chemicals, energy, and electronics are likely to take advantage of lower sequencing costs to create new avenues for R&D.

For Invitae, there will be two order effects. The first is the growing demand for tests and services in healthcare. The applications for genetic data are growing at a fast pace, and companies providing the data will have huge demand. The second is the growing demand coming from other unexpected sectors.

In this field, companies are offering flexible laboratory-developed tests, and direct-to-consumer solutions, like the ones provided by Sema4, Myriad Genetics, 23andMe, or Genomic Health. Invitae is trying to establish an integrated network to be accessed by physicians during an individual's life. Like all the networks, its value increases with each new user. In this case, the network is complex because it is an ecosystem composed of patients, doctors, and insurance companies (payers). That makes it likely to be a case where the winner takes most and helps explain why the company is looking to scale fast.

However, developing and maintaining a network is not easy or cheap. For instance, the cost of accumulating data is high. Unlike social media that harvests inexpensive user data, Invitae harvests expensive user data. Yes, they have access to a huge pool of datasets, but they also have to sequence it, and that's expensive. However, new technology in the industry can change that. The emergence of Pacific Biosciences' HiFi sequencing technology might open a new avenue to a sustainable cost-reduction period in the industry. Invitae has already started to explore this route.

Additionally, Invitae needs to dilute the costs of laboratory infrastructure over a larger number of tests. To do so, the company will need to have a big gene library, and they'll need to perform advanced research on the gene data. That will widen the test menu, which will help to attract more customers, and, in turn, drive costs lower, reinforcing the cycle.

The interpretation of results is another aspect to consider to reduce costs. You might get your DNA sequenced, but you would still need to understand which gene does what. These are very complex processes that require a lot of work. Currently, AI offers immense help in that process since it allows for the processing of enormous loads of data. That, I believe, is the secret sauce. Having more samples means having more data. With a powerful AI processing capacity, the company can expand its knowledge base and increase its testing menu. To provide some color, Invitae started with 200 genes in its first commercial offering, and it grew to more than 200,000 genes.

Next comes Invitaes most used corporate strategy: focused acquisitions. The company has been acquiring companies that have the tech to build the testing network or buying companies that will allow them to drive down the costs. One example is rare disease diagnostics. Diagnosing rare diseases is like searching for a needle in a haystack. However, AI can lower the time and cost to do it. Diploid's acquisition earlier in 2020 is a step in that direction. The company has an AI software called Moon that combines AI algorithms, a gene-disorder model, and a continuously growing genetic database to provide a diagnosis in minutes.

Other acquisitions include Genelex and YouScript, both providing pharmacogenetic information at point-of-care. That will help healthcare organizations to evaluate how an individual will react to a certain drug prescription based on their genetic information. More impactfully, by acquiring Archer DX, Invitae integrates germline testing, tumor profiling, and liquid biopsy capabilities in its platform.

Summing up, the company is developing a network approach instead of a direct-to-consumer used by many competitors. The company has focused on driving costs lower by using the most cost-effective technology available. The adoption of PacBio's HiFi technology seems like a step in that direction.

Driving the costs lower has allowed the company to be aggressive in pricing, and it has helped in growing the test volume. Finally, the various acquisitions have brought software, AI skills, and new testing capabilities to the platform, which will help to widen the offerings.

(Source: Invitae)

The company's revenues have been growing at an impressive pace. Revenues expanded by 47% in 2019, and it reflects the aggressive approach to generate volume growth. The company is on an evident scaling-up period, and the gross margins are also accompanying the trend. The gross margin has improved from being negative in 2015 to a stable 45% in 2018 and 2019. However, scaling-up also means higher R&D and SG&A expenses.

(Source: Authors computations based on SEC filings)

I see the scaling-up as an opportunity. Firstly, it is likely that the company will miss on earnings, and that might throw the stock down temporarily. Secondly, the company is scaling because it knows that there is a market for its product.

The improvement in the bottom line is dependent on two main fronts. First, reaching out to new markets, which will result in revenue growth and the dilution of SG&A expenses. Second, the improvement in the gross margin, i.e., becoming more efficient.

On the COGS front, the company's double approach, i.e., exploring alternatives to Illumina's technology and stimulating economies of scale, has allowed a decrease in the cost per sample from $264 in 2018 to $245 in 2019. The development (or acquisition) of AI capabilities will also help reduce labor costs, and medical interpretation of the results will bring further declines.

In my opinion, the biggest quest to improve the bottom line is on the payers' side of the network. Physicians will hardly prescribe an expensive test to a patient if they can't get a reimbursement. Reimbursement is dependent on several factors, and it is up to the payer to determine if a test is appropriate. Additionally, payers also define who they contract in case they need a test. Therefore, getting coverage and a contract from payers becomes essential to grow the business. Invitae currently has contracts with payers amassing a total of 295 million lives. That's reflected in the 60% growth in billable tests in 2019.

Some studies suggest that the global market for pediatric rare disease diagnostics will be worth more than $27 billion in 2024. That's a very tangible market to target, and one where clinicians, third-party payers, and parents are very much aligned in the awareness that there must be a better way than years of trial-and-error before clinicians reach a final diagnostic.

That might very well be the breakthrough for Invitae, but there are lots of other avenues to take, other being non-invasive natal screening. Nevertheless, a tremendous increase in revenue will be necessary to make the company profitable. Two main factors might help the company in its pursuit. First, the next generation of sequencing technology, like PacBio's HiFi, will likely help to sustain the drop in costs that the industry has been experiencing. Second, reduced costs will be a driver for new demand for genetic tests. More tests mean more data for Invitae to apply its AI and add more genetic content to its test menu. That will be another driver for demand.

I like to end the pieces on genetic companies with a word of caution. These are very risky enterprises, do not doubt it. In this case, I could write a piece only focused on the risks.

First, there might be one or more competitors that might have better technology or market offering. Genomics is a very dynamic field, and with costs dropping, the barriers to new entrants also drop. That's the recipe for innovation and competition. One thing that worries me is a new entrant completely disrupting the network model followed by Invitae. Nevertheless, the threat might also come from an established big pharmaceutical player, heavy on resources.

Second, the ability to gather support from third-party payers is crucial to keep the company growing and expanding its edge. Also, the ability to convince physicians to prescribe the tests and the competence to navigate the payers' requirements to get the reimbursements.

Given the serial-acquirer profile that Invitae has developed, integrating all the acquisitions seamlessly becomes essential. If they fail to accomplish it, that will result in costly write-offs and investor scares, which might push the company out of the capital markets.

Finally, currently, the balance sheet is solid. However, the company might need cash to finance an acquisition (or to cover the cash burn), meaning that there is a good chance of a significant issuance of stock in the coming years.

That said, there are more than enough unmet needs in the marketplace for the company to build a $2 to $3 billion sustainable revenue stream during the next couple of years. If the current decrease in costs holds, the company will likely turn profitable. If that scenario materializes, the current market capitalization could easily double.

Disclosure: I am/we are long PACB, NVTA, CRSP. I wrote this article myself, and it expresses my own opinions. I am not receiving compensation for it (other than from Seeking Alpha). I have no business relationship with any company whose stock is mentioned in this article.

Additional disclosure: This text expresses the views of the author as of the date indicated and such views are subject to change without notice. The author has no duty or obligation to update the information contained herein. Further, wherever there is the potential for profit there is also the possibility of loss. Additionally, the present article is being made available for educational purposes only and should not be used for any other purpose. The information contained herein does not constitute and should not be construed as an offering of advisory services or an offer to sell or solicitation to buy any securities or related financial instruments in any jurisdiction. Some information and data contained herein concerning economic trends and performance is based on or derived from information provided by independent third-party sources. The author trusts that the sources from which such information has been obtained are reliable; however, it cannot guarantee the accuracy of such information and has not independently verified the accuracy or completeness of such information or the assumptions on which such information is based.

The rest is here:
Invitae: Network Strategy And Industry Tailwinds Should Offer Path To Profitability - Seeking Alpha

After seeing inadequate mental healthcare profoundly affect family and friends, Maurice Chiang, MS 20 was determined to find a better way. Guided by the Stanford Byers Center for Biodesigns need-based approach to innovation, Chiang worked with a team of fellow Stanford graduates to build a new model for mental healthcare delivery.

The Prairie Health co-founders: Top L: Benson Kung, Top R: Maurice Chiang, Bottom L: Aaron Kappe, Bottom R: Jin Woo Yu. (Image credit: Courtesy Prairie Health)

Chiang, along with Benson Kung, BS 20, Aaron Kappe, MBA 20, and Jin Woo Yu, BS 20, developed a system that uses data to inform treatment decisions, telemedicine to improve patient access and care continuity, and a direct-to-consumer approach to bypass traditionally poor mental health insurance coverage and misaligned care incentives. Their goal: drive better outcomes for patients at a significantly reduced cost.

Chiang, who earned his undergraduate degree in bioengineering before completing a masters in computer science, used the biodesign process to understand problems in mental healthcare before conceptualizing a solution. He first learned this systematic approach to health technology innovation as a student in Bioengineering Senior Capstone Design.

The Capstone course prepares engineering students for the real world by asking them to identify an important problem, understand it from the perspectives of all involved and then develop a novel, technology-based solution, said course co-leader Ross Venook, PhD, a bioengineering lecturer and the assistant director of engineering at Stanford Biodesign.

In the course, Maurice and his team had worked on a project to reduce opioid dependency, so when he brought up mental health in a subsequent meeting, I was surprised. My surprise turned to curiosity and then excitement as Maurice described the unmet clinical need he was pursuing and the way he was applying the biodesign tools we used in class to this project, said Venook, who became an informal advisor to the team.

Chiang started by interviewing hundreds of patients, providers, payers and others. I wanted to thoroughly understand the ecosystem so I could find a way to improve care for patients while also delivering value to the other stakeholders, Chiang said.

Based on his research, one of the first problems Chiang set out to address was the way antidepressants are prescribed to mental health patients. There is significant variability in the way people respond to these medications, he said. Psychiatrists approach this largely by trial and error, meaning they try something, wait to see how it works and then try something else. As a result, patients can spend months struggling with ineffective medications and/or adverse side effects.

This is the same approach that has been used since the 1980s, Chiang said. I wanted to use data to advance patient care and prescribing practices. He explained that while its not yet possible to use a patients genetic information to create a personalized medical regimen, there are ways to use genetic testing to better understand how a patient will metabolize drugs.

The key to this is the six enzymes (proteins) that are largely responsible for breaking down drugs in the body. These enzymes arent identical in everyone; in fact, most people have variations of one or more of them that affect the way their bodies process medications. Because differences in certain genes correspond to the differences in the enzymes, genetic testing can identify the variants and help predict individual medication response.

For example, if a person has a variation that causes them to metabolize an antidepressant more slowly than average, the antidepressant will stay in their system longer, increasing the likelihood that it will cause side effects like nausea and fatigue, said Chiang. If the physician is aware of this, they can modify that patients prescription proactively.

Working with teammate Kung, Chiang also sought to leverage data to help providers understand how patients similar to theirs had responded in the past. The National Health Service in the UK has one of the worlds largest psychiatric clinical datasets, said Chiang. We use longitudinal data drawn from years of patient health records and other variables to paint a picture of patient outcomes on certain medications over time. This information, along with the genetic tests, helps drive more informed treatment decisions that give patients a better chance of receiving a medication that works for them the first time, resulting in fewer adverse side effects, lower costs and faster recoveries.

Another problem Chiang set out to address was access. It typically takes three to four weeks to get a first appointment to see a provider, and follow-up visits can be six to 12 weeks apart, he said. To shorten that timeline, the team began experimenting with telemedicine. With virtual visits, we can connect a patient to a provider within a day, said Chiang.

To improve care continuity, a care manager is assigned to check in with the patient regularly. Theres a lot to be gained from a non-therapist support person, said Ronald Albucher, MD, the former director of Counseling and Psychological Services at Stanfords Vaden Student Health Center, who serves as an advisor to the team. Improved support is associated with a reduction in symptoms, especially when someone is going through a crisis or a new onset mental health problem.

The team also tackled the high cost of treatment. Insurance coverage for mental healthcare is frequently inadequate, said Albucher. Patients are required to choose from a small number of in-network providers, only to find out that most arent taking new patients or are retired. It makes it hard to find a provider who is a good match. And then there is often a cap on the number of visits.

To eliminate these problems, the team decided to use a direct-to-consumer business model. This approach, in combination with virtual visits, strips out billers, payers, offices and most administrative costs, and makes it possible to deliver comprehensive mental healthcare that includes genetic testing and medications for a flat fee of $99 per month.

The business model is largely the brainchild of Kappe, who got interested in entrepreneurship while a student in the graduate-level Biodesign Innovation course. Kappe said it was the most impactful course he took at the Stanford Graduate School of Business. The course demystified the process of starting a company by breaking it down into components from understanding the need youre trying to solve, to how different stakeholders interact, how to think through regulatory paths and options and how to develop a go-to-market plan that makes the business sustainable, Kappe said.

The company they formed is called Prairie Health. Kappe leads its business strategy and growth. Chiang is the CEO, Kung heads research and development, and Yu heads product and engineering. All four are co-founders, and share interwoven connections to Stanford Engineering, Stanford Biodesign, the Stanford Ventures Technology Program and ASES, a global student entrepreneurship program.

Its a very interesting model that hasnt been tried before, said Albucher. They are doing an impressive job of trying to address important deficiencies in mental healthcare.

Chiang said he and his team members are trying to walk the walk when it comes to providing value-based care. A patient with anxiety and depression incurs an average of $5,000 to $8,000 more in medical claims per year, Chiang said. If were able to improve patient outcomes three times faster, thats better for the patient and a significant cost savings.

Link:
Reimagining mental healthcare from the ground up - Stanford Today - Stanford University News

Diagnostics are a critical part of precision medicine. They can be used to screen patients for breakthrough therapies, detect certain conditions, especially cancer, earlier. But this area of medical innovation is balanced between promising new developments in molecular diagnostics, genetic testing and liquid biopsies, the delivery of these tests, and the all important question of who pays for it.

More than 80% of representatives of health systems have established genomic data management strategies or plan to do so within the next couple of years, according to a report by University of Pittsburgh Medical Centers Center for Connected Medicine and HIMSS Media, which surveyed 101 health system and hospital representatives in the U.S. The report indicated that health systems anticipate growth and increased use of genomics. Evidence of clinical and cost effectiveness and reimbursement are crucial for wider adoption of precision medicine programs.

Although the development and distribution of tests to diagnose COVID-19 has dominated much of the news this year, there has also been much activity in the way of development of molecular diagnostic tests and liquid biopsies.

Advanced diagnostic tests can stratify patients for response, non-response, and adverse events to costly therapies and interventions that do not yield improvement or positive outcome for patients.

In this eBook, we offer a look at some of the promising diagnostic developments and trends in this area, tempered by the need to make financing considerations an essential part of the conversation.

Please fill out the form below to download the eBook, The Diagnostics Chapter of Precision Medicine.

Photo: Natali_Mis, Getty Images

Read the original:
A look at the diagnostics chapter of precision medicine - MedCity News

SAN DIEGO & WELLESLEY, Mass.--(BUSINESS WIRE)--Illumina, Inc. (Nasdaq: ILMN) and Harvard Pilgrim Health Care announce a risk-sharing agreement to make whole-genome sequencing (WGS) available to certain Harvard Pilgrim members, effective January 1, 2021. The program will leverage WGS to support faster diagnoses of genetic diseases in children, potentially eliminating the long, costly diagnostic odyssey experienced by many families, with the goal of improving patient outcomes.

Diagnosing genetic diseases often takes many years and diagnostic testing costs can exceed $10-20,000 for some patients. Through this agreement, Harvard Pilgrim and Illumina will work together to evaluate how insurance coverage of WGS impacts patient care and healthcare costs. To date, there are more than 20 peer-reviewed publications demonstrating the clinical utility of WGS in over 3,000 patients with suspected genetic diseases. Health economic models predict that implementing WGS earlier in the diagnostic workup is likely to be cost-neutral or even save payers money.

Harvard Pilgrim proudly continues to lead the way in agreements designed to promote access for our members to leading-edge precision medicine technology, while containing costs for consumers and employers. We are delighted to have reached this value-based agreement with Illumina, said Michael Sherman, MD., Harvard Pilgrims Chief Medical Officer. Our members will be able to take advantage of this comprehensive technology, potentially saving themselves enormous frustration, heartache, and financial challenges. Moreover, Illumina gains the opportunity to demonstrate its value in a real-world setting through expanded use of WGS, while Harvard Pilgrim provides additional benefits but deters additional expenses that would otherwise increase costs for our members.

During the term of the agreement, Harvard Pilgrim will cover WGS, through their network of lab providers, for pediatric patients meeting specific criteria. Illumina and Harvard Pilgrim will share the risk on genetic testing costs. Achieving a rapid diagnosis will prove most valuable for allending uncertainty for patient families and potentially halting unnecessary spending on the clinical side. Together, Harvard Pilgrim and Illumina will analyze the data, adjudicate the financials, and prepare a peer-reviewed study for publication.

There are more than 7,000 known genetic conditions, and yet it can take years for patients and their families and physicians to diagnose their conditionfrequently at significant cost in terms of time, money, and emotion, as patients are referred from one specialist to the next, said Ammar Qadan, Vice President of Global Market Access at Illumina. WGS can dramatically reduce the time it takes to diagnose genetic conditions, which can improve patient outcomes, as well as economics.

About Harvard Pilgrim Health Care

Harvard Pilgrim and its family of companies provide health benefit plans, programs, and services to more than 3 million customers in New England and beyond. A leading not-for-profit health services company, we guide our membersand the communities we serveto better health.

Founded by doctors over 50 years ago, were building on our legacy. In partnership with our network of more than 70,000 doctors and 182 hospitals, were improving health outcomes and lowering costs through clinical quality and innovative care management.

Our commitment to the communities we serve is driven by the passion of the Harvard Pilgrim Health Care Foundation. Through its work, low- and moderate-income families are gaining greater access to fresh, affordable fooda cornerstone to better health and well-being. To learn more about Harvard Pilgrim, visit http://www.harvardpilgrim.org.

About Illumina

Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit http://www.illumina.com and connect with us on Twitter, Facebook, LinkedIn, Instagram, and YouTube.

More here:
Illumina and Harvard Pilgrim Health Care Expand Access to Whole-Genome Sequencing for Genetic Disease Testing - Business Wire

There is a common misconception that many genetic diseases are more common in Western countries than in India. For some, this has translated to an almost total disregard for some of the most common and deadly diseases in India.

A study conducted by MedGenome Labs, in partnership with Sir Ganga Ram Hospital in New Delhi, has found that, not only are disease-related genes more common in India than previously expected, they vary from those found in Western nations.

The study is, unfortunately, of limited scope, assessing a sample size of 200 unrelated individuals in the north Indian population over a period of 22 months. Of the 200 participants, 52 (26 percent) were found to be carriers of one or more rare genetic disorders. The title of rare disease in this regard is at least partially misleading. An estimated one in twenty Indians suffer from illnesses that fall under the classification of rare diseases. Children account for fifty percent of such cases.

Rare diseases affect around 350 million people worldwide. This figure includes roughly seventy million Indians. Each disease may individually affect just a few hundred, or a few thousand worldwide many affect even less. The sheer number of different conditions that fall under the umbrella term of rare diseases, however, means that cumulatively these conditions affect hundreds of millions. Funding for each individual disease is often all but non-existent due to the limited impact of funding research into a disease affecting so few people.

Three percent of individuals within the survey were found to be carriers for Pompe disease, a rare genetic condition that impacts muscle function. This often leads to issues with both breathing and eating. This is a high rate that could indicate the Indian population to be far more vulnerable than others. However, due to the limited scope of the study, this could be an overestimate due to the small sampling size, warranting further investigations on a broader scale.

Other notable discoveries from the study indicated a statistical difference in the disease causing variants observed for disorders such as deafness, cystic fibrosis, Canavan disease, primary hyperoxaluria, junctional epidermolysis bullosa, galactosemia, and medium chain acyl CoA deficiency compared to Western populations.

Dr Sunita Bijarnia-Mahay, author and senior consultant at Sir Ganga Ram Hospitals Institute of Medical Genetics & Genomics, said this study brought surprises by detecting those genetic disorders like cystic fibrosis which were not thought to be common. In future, such next generation sequencing (NGS)-based screening tests will bring benefit to not only the young couples who would be planning a baby, but also the healthcare officials in charting out the prevention strategies for our Indian population.

According to Dr Sheetal Sharda, a senior consultant in clinical genetics at MedGenome Labs in Bengaluru, couples may not even be aware that they could be carrying a genetic variant, which could lead to their unborn child developing a genetic disorder. In most cases, carriers of a genetic disorder are asymptomatic and may have no family history and unfortunately their carrier status is often confirmed only after an affected baby is born.

More genetic study is warranted within the Indian population. India represents almost twenty percent of the worlds population and is on track to become the worlds most populous nation in the coming decades. Despite this, only 0.2 percent of fully mapped genomes in global databanks are of Indian origin.

Success has been had in the past regarding genetic studies of the Indian population. One Genome Wide Association Study (GWAS) found that there are six unique alleles present among the Indian population that causes a genetic predisposition to diabetes. This underlines at least part of the cause of high diabetes rates among Indians other causes being lifestyle factors such as diets rich in sugar and sedentary lifestyles with a limited degree of exercise.

Genetics form an underlying component of disease that interacts in a complex manner with environmental factors and lifestyle choices to create a risk factor for many of Indias most common and life-threatening diseases. Diabetes is just one example. Heart disease Indias most common cause of death is another.

Knowledge of unique, or common genetic risk factors among Indias population is vital to shaping health programmes tailored to Indias population. With greater knowledge, and greater availability of genetic testing, countless lives could be saved by providing early warning of potentially life-threatening diseases.

Like Loading...

Related

See original here:
Genetic disease in India: more prevalent than previously thought? - Hyderus Cyf

What are the emerging opportunities in the Point-of-Care Genetic Testing Market?

Currently, significant business sectors are going through changes. This has prompted huge benefits for a few and misfortunes for other people. To make the most out of the emerging chances, you can exploit the most granted Point-of-Care Genetic Testing market report. It offers nitty-gritty experiences into the market. This will doubtlessly manage their organizations in creating the following move over the impending industry quarters.

It must be noticed that the Point-of-Care Genetic Testing market is encountering unexpected ascent in reception by numerous new players (from MNCs to SMEs). It is because of the way that even with the market turbulences the Global market came out with solid numbers. With the new business running into the market, it is basic to stand apart from the group. The customers can undoubtedly accomplish this utilizing the means referenced in the Point-of-Care Genetic Testing market report.

What type of investigation is done in the Point-of-Care Genetic Testing market report?

Analysis of various socioeconomics for venturing into the market is important as it will hugely affect the development throughout the following coming years. The Point-of-Care Genetic Testing market report is planned subsequent to doing long periods of exploration and the information sifted through in the report was gathered from dependable sources, for example, government sites.

As the market is gigantic, it turns out to be imperative to comprehend the market from its underlying foundations. Get a superior perspective on the Point-of-Care Genetic Testing market through the data referenced in the committed areas of the report. With this, the customers likewise get a perspective on the business structure of the contenders.

What are the reasons that impact the growth of the Point-of-Care Genetic Testing Market?

As of late, the advanced transformation has pushed the associations in changing into a computerized business for coming to the intended interest group present over the globe. The Point-of-Care Genetic Testing market report shares the significance of neighborhood language, partners, and political situation that will drive the Global market higher than ever.

With the best possible comprehension of the Point-of-Care Genetic Testing market, the associations can hop onto the open doors that will bring productive outcomes. The customers can exploit the biggest in-house information base for taking the most effective actions. Likewise, the Point-of-Care Genetic Testing market report has committed segments covering the insights concerning the current market players. With the information on how they function and accomplish their objectives, your business can likewise be formed as needs be.

What type of analysis short-term or long-term is added in the Point-of-Care Genetic Testing Market report?

This is important to sidestep any negative circumstances that may affect the development of the organizations. In addition, the associations need to comprehend Porters five powers that shape the market elements. In the event that the customers wish to add or eliminate the names of the organizations, it tends to be done, to suit the desires for the clients, for accomplishing long-haul objectives. SWOT investigation helps in uncovering the qualities and shortcomings of the business. The PESTLE investigation helps in checking the outer elements that shape the market overall. Subsequently, for making a name in the Point-of-Care Genetic Testing market, it gets important to get thought from both SWOT and PESTLE investigations.

The Point-of-Care Genetic Testing market report likewise brushes over the significance of language and partners for the smooth working of the associations. Thusly, the customers are stacked with data and steps and are prepared to move into the market for accomplishing the ideal objectives.

About Us:

Verified Market Reports is a leading Global Research and Consulting firm servicing over 5000+ customers. Verified Market Reports provides advanced analytical research solutions while offering information enriched research studies. We offer insight into strategic and growth analyses, Data necessary to achieve corporate goals, and critical revenue decisions.

Our 250 Analysts and SMEs offer a high level of expertise in data collection and governance use industrial techniques to collect and analyze data on more than 15,000 high impact and niche markets. Our analysts are trained to combine modern data collection techniques, superior research methodology, expertise, and years of collective experience to produce informative and accurate research.

Contact us:

Mr. Edwyne Fernandes

US: +1 (650)-781-4080UK: +44 (203)-411-9686APAC: +91 (902)-863-5784US Toll-Free: +1 (800)-7821768

Email: [emailprotected]

Read more:
Point-of-Care Genetic Testing Market Size, Analysis, Regional Outlook, Competitive Strategies and Forecasts to 2027 - Cheshire Media

Its PODCAST Thursday! New episode of The Breast of Everything out now!

On this episode, Comprehensive Breast Care surgeon Ashely Richardson, DO, talks with patient Shana Carter about her experience with genetic testing.

Through genetic testing, Shana, a Young Fives teacher and mother of two, learned she had a mutation in her ATM gene, placing her in the high-risk category for developing breast cancer. On this episode, she chats about her cancer risk, and why she feels a prophylactic mastectomy was the best option for her. The decision to take my breasts was an easy one for me, says Shana. I wanted to live as long as humanly possible.

Many of my patients who were in a similar situation like Shanas ask me, What would you do? says Ashley. I cant answer that question, everyones personal experience and situation is different. Ashley goes on to point out that, Genetic testing covers more than 50 different genes that can be related to breast cancer and other cancers. Testing is much more accessible and affordable, and we know so much more now that we did 11 years ago.

At Comprehensive Breast Care, we recommend genetic testing to all breast cancer patients, all high-risk patients and all first-degree relatives who have a gene mutation. says Ashley. And for Sarah, that testing is potentially life changing, I now have less than a 1 percent chance of developing breast cancer.

To hear the full episode, TUNE IN at https://bit.ly/3fc4Fey, orwww.compbreastcare.comApplePodcasts, GooglePlay, or listen wherever you get your podcasts.

If you are concerned you may have breast cancer, or want to know more about genetic testing, go to https://www.compbreastcare.com/ or call, 248-687-7300.

More:
Local Announcement: Why I did Genetic Testing - NEW Breast of Everything Podcast - Patch.com

-- Study finds nearly 1 in 10 show genetic changes with established clinical management recommendations, potential eligibility for precision therapies and/or clinical treatment trials --

-- Data presented at the National Society of Genetic Counselors Annual Conference, which will also include ceremony honoring excellence in genetic counseling patient care --

SAN FRANCISCO, Nov. 19, 2020 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, today presented study findings that show nine percent of patients with pancreatic cancer had genetic changes in DNA damage repair (DDR) genes that would make them eligible for PARP inhibitor therapy or clinical treatment trials. Despite professional guidelines that recommend testing for all pancreatic cancer patients, it remains underutilized in routine care. The study was presented at the National Society of Genetic Counselors 39th Annual Conference.

"New therapeutics have recently become available to treat pancreatic cancer for patients with certain changes in genes such as BRCA1 and BRCA2. Yet despite the availability of these treatments and professional guidelines recommending testing, utilization is still lagging," said Robert Nussbaum, M.D., chief medical officer of Invitae and study author. "Pathogenic variants in these genes are associated with an increased risk of other cancers as well, such as breast, ovarian and prostate cancer, which means that a failure to test patients with pancreatic cancer impacts not only their treatment, but also the health of their families."

Importantly, the study of over 2,000 patients found that 15% of patients with actionable genetic changes reported no family history of cancer, which underscores the limitations of using testing criteria based on reported family history. National Comprehensive Cancer Network (NCCN) guidelines recommend genetic counseling and germline genetic testing for everyone diagnosed with pancreatic cancer as well as their first degree relatives -- approximately 3.5 million individuals in the United States.

Story continues

In addition to evaluating the clinical relevance of genetic testing results, the study offered sponsored, no-charge testing to patients to evaluate the role of cost as a barrier to testing. Researchers found a small but significant increase (2%) in testing among African-American patients compared to typical rates among patients using health insurance, suggesting reducing cost may increase access to testing among this population.

The research was presented at the virtual annual meeting of the National Society of Genetic Counselors. The full research presentation from Invitae included:

Oral platform presentations:

Increasing access for patients with pancreatic cancer to germline genetic testing: Clinical impacts across disease stage and ethnicity. Presented by Ed Esplin, MD, PhD, FACMG, FACP

Evaluating variant reclassification in reproductive carrier screening. Presented by Julia Wilkinson, MS, LCGC

Poster presentations:

Utility of adding phenotypic criteria refinement to ACMG guidelines. Presented by Lauren Frank, MS, CGC

Comprehensive germline multigene panels change clinical care and inform treatment strategies for breast cancer patients. Presented by Sarah Nielsen, MS, LCGC

Carrier screening for X-linked conditions is common practice. Presented by Dana Neitzel, MS, CGC

In addition to its scientific presence, Invitae will again partner with NSGC to present the Heart of Genetic Counseling award, which honors excellence in genetic counseling and patient care as recognized by patients. Nominations include stories from patients that highlight both the clinical and personal impact a genetic counselor had on their lives and the lives of their families. This year's award will be presented during a virtual ceremony on Thursday, November 17th. The finalists include:

Rachelle Manookian, MS, LCGC, City of Hope in Duarte, CA, was nominated by a man who had been searching for answers about the origin of his cancer for more than 10 years. He hoped that any identified mutations would lead to a newly developed drug or clinical trial that could attack his cancer with precision. Manookian left no stone unturned and remained in touch until she found a clinical trial. Thanks to Manookian's persistence, he finally got answers and learned that his sons did not carry the same increased genetic risk of prostate cancer.

Donna McDonald-McGinn, MS, LCGC, Children's Hospital of Philadelphia in Philadelphia, was nominated by the mother of a son with a rare genetic condition called 22q11.2 deletion syndrome. McDonald-McGinn has been his care coordinator and navigator for 21 years, explaining and managing the care that he has needed through his life. Always acting as his advocate, McDonald-McGinn has been there for each of his 21 surgeries and is a staunch advocate for those with 22q11.2 deletion syndrome.

Gretchen MacCarrick, MS, CGC, Johns Hopkins Medicine in Baltimore, was nominated by a mother whose daughter has Loeys-Dietz syndrome (LDS), which was discovered in 2005. For nearly 12 years, MacCarrick has been by their side guiding them. She explains what tests are needed, what the results mean and navigates their daughter's care during their regular visits to Baltimore, including a major heart surgery. Importantly, MacCarrick has even developed a strong relationship directly with the patient who is now 16 and getting more engaged in her care.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at invitae.com.

Safe Harbor Statement

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the implications of the company's study results; and the importance and potential benefits of genetic testing for pancreatic cancer patients. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2020. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:

Laura D'Angelopr@invitae.com(628) 213-3283

View original content to download multimedia:http://www.prnewswire.com/news-releases/new-study-highlights-the-importance-of-genetic-testing-for-pancreatic-cancer-patients-301177392.html

SOURCE Invitae Corporation

Continued here:
New Study Highlights the Importance of Genetic Testing for Pancreatic Cancer Patients - Yahoo Finance

Dublin, Nov. 20, 2020 (GLOBE NEWSWIRE) -- The "Direct-to-Consumer Genetic Testing: Global Markets and Technologies" report has been added to ResearchAndMarkets.com's offering.

The scope of this report includes DTC genetic testing technologies, applications, industry subsegments, major strategic alliances, patents, and companies. The market sizes for next-generation cancer diagnostics are given for 2019, 2020 (estimated) and 2025 (forecasted).

This report reviews the main DTC genetic testing technologies, including next-generation sequencing (NGS), polymerase chain reaction (PCR), and genotyping microarrays.

The report then discusses several of the significant large-scale population sequencing initiatives that are contributing to DTC genetic testing development. Key forces driving the market are enumerated.

The structures of several important industry subsectors are reviewed, as well as major industry acquisitions and strategic alliances from January 2019 through September 2020. Industry subsectors analyzed include ancestry, clinical health, recreational health, sequencing data-based blockchain, sequencing instrument, long-read sequencing, sequencing informatics, and PCR.

The market for DTC genetic testing is analyzed in depth. The market is analyzed by test purpose (ancestry, health, lifestyle); technology platform (PCR, genotyping arrays, sequencing); by delivery format (test kits, virtual tests); and by geography (North America, Europe, Asia/Pacific, RoW).

Direct-to-consumer (DTC) genetic testing involves the analysis and interpretation of a person's genome. A consumer can access DTC genetic testing from a commercial company or from a health care provider.

DTC genetic testing has evolved in the past 10 years. Initially, it focused on personal applications outside traditional health care, such as exploring ancestry, and has trended toward interfacing with clinical care in non-traditional ways, such as partnerships between DTC companies with health systems.

Analysis of a customer's genome helps to know about their ancestry inference, disease risks, and other personal traits. Based on this, the main applications include ancestry, health, and lifestyle.

Several factors are driving growth in the DTC genetic testing industry, including a shifting emphasis on health-related applications, the rise of personalized genomics, and increasing convenience of ordering goods and services from virtual at-home settings. This latter trend has been accelerated by the COVID-19 pandemic.

There is rising public awareness of DNA and its impact on health and genetic disorders, ancestry, and lifestyle. These trends are having a favorable impact on the at-home genetic testing market. This report provides an in-depth analysis of the DTC genetic testing industry

Report Includes:

Key Topics Covered:

Chapter 1 Introduction

Chapter 2 Summary and Highlights Overview

Chapter 3 Overview

Chapter 4 DTC Genetic Technologies

Chapter 5 DTC Genetic Testing Industry

Chapter 6 Industry Acquisitions and Strategic Alliances

Chapter 7 DTC Genetic Testing Markets

Chapter 8 Patents

Chapter 9 Company Profiles

For more information about this report visit https://www.researchandmarkets.com/r/62hajf

Research and Markets also offers Custom Research services providing focused, comprehensive and tailored research.

Go here to see the original:
Outlook on the Direct-to-Consumer Genetic Testing Global Market to 2025 - Featuring Genetic Technologies, Illumina & Myriad Genetics Among Others...

New York, Nov. 16, 2020 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Direct-to-Consumer Genetic Testing: Global Markets and Technologies" - https://www.reportlinker.com/p05987656/?utm_source=GNW

This report reviews the main DTC genetic testing technologies, including next-generation sequencing (NGS), polymerase chain reaction (PCR) and genotyping microarrays.

The report then discusses several of the significant large-scale population sequencing initiatives that are contributing to DTC genetic testing development. Key forces driving the market are enumerated.

The structures of several important industry subsectors are reviewed, as well as major industry acquisitions and strategic alliances from January 2019 through September 2020. Industry subsectors analyzed include ancestry, clinical health, recreational health, sequencing data-based blockchain, sequencing instrument, long-read sequencing, sequencing informatics and PCR.

The market for DTC genetic testing is analyzed in depth. The market is analyzed by test purpose (ancestry, health, lifestyle); by technology platform (PCR, genotyping arrays, sequencing); by delivery format (test kits, virtual tests); and by geography (North America, Europe, Asia/Pacific, RoW).

The ancestry market segment is analyzed by technology and by ethnicity (African, Asian, European, Latino, other). The health market segment is analyzed by technology and by disease category (cancer, cardiovascular, complex common, pharmacogenomics, rare diseases and other). The lifestyle market segment is analyzed by technology and by application (genetic relatedness, nutrigenomics, personal traits, weight management/fitness, other)

Market data covers 2019, 2020 (estimated) and 2025 (forecasted).

More than 55 companies in the DTC genetic testing industry are profiled in this report.

The analyst provides a summary of the main industry acquisitions and strategic alliances from January 2019 through September 2020, including key alliance trends.

Report Inludes: - 12 data tables and 39 additional tables - An overview of the global markets and technologies for direct to consumer (DTC) genetic testing - Analyses of global market trends, with data from 2019, estimates for 2020, and projections of compound annual growth rates (CAGRs) through 2025 - Information on key genomic regions associated with genetic testing and description of instruments and technologies used for DTC genetic testing - Coverage of DNA sequencing; microarray; and software industries and description of the key initiatives in the genetic testing industry - Detailed analysis of the current market trends, market forecast and discussion of technological, regulatory and competitive elements as well as economic trends affecting the future marketplace for direct to consumer (DTC) genetic testing and impact analysis of COVID-19 on the market - Evaluation of key industry acquisitions and strategic alliances and market share analysis of the leading suppliers of the industry - Profiles of the key companies in the DTC testing industry, including Chendu 23Mofang Biotechnology Co. Ltd (23Mofand), Genetic Technologies Ltd, Illumina Inc., Myriad Genetics Inc., Thermo Fisher Scientific Inc., and Quest Diagnostics Inc.

Summary: Direct-to-consumer (DTC) genetic testing involves the analysis and interpretation of a persons genome. A consumer can access DTC genetic testing from a commercial company or from a health care provider.

DTC genetic testing has evolved in the past 10 years. Initially it focused on personal applications outside traditional health care, such as exploring ancestry and has trended toward interfacing with clinical care in non-traditional ways, such as partnerships between DTC companies with health systems.

Analysis of a customers genome helps to know about their ancestry inference, disease risks and other personal traits. Based on this, the main applications include ancestry, health and lifestyle.

Several factors are driving growth in the DTC genetic testing industry, including a shifting emphasis on health-related applications, the rise of personalized genomics and increasing convenience of ordering goods and services from virtual at-home settings. This latter trend has been accelerated by the COVID- 19 pandemic.

There is rising public awareness of DNA and its impact on health and genetic disorders, ancestry and lifestyle. These trends are having a favorable impact on the at-home genetic testing market. This report provides an in-depth analysis of the DTC genetic testing industryRead the full report: https://www.reportlinker.com/p05987656/?utm_source=GNW

About ReportlinkerReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.

__________________________

Read the original:
Direct-to-Consumer Genetic Testing: Global Markets and Technologies - GlobeNewswire