Archive for the ‘Genetic Testing’ Category

This Breast Cancer Awareness Month, let us learn who is more susceptible to the disease and what tests do you need to get timely treatment for it.

Written by Editorial Team | Updated : November 1, 2021 10:31 AM IST

We all go through life with a lot of hesitation. With time, we have been made aware of the fact that our family and genes can tell us about some of the diseases we are more vulnerable to. Our genes try to show us what to be cautious of, however, some of us end up denying and running from it. So far, science has helped us understand that all cancers are genetic, while they may not be hereditary. We have a pair of each gene. To be able to disrupt the gene, there is a mutation in both the copies and that's how it makes the gene non-functional and predisposes the cells carrying the mutation to divide indefinitely. However, if some patients already have a damaged copy of a gene that is important in this cell cycle or repair of DNA, inherited from their parents, the patient would be at an increased risk of developing hereditary cancer.

This World Breast Cancer Month, we would like to talk about one such issue and one disease which can be passed down to the next generation. And why timely testing can help us. BRCA1 and BRCA2 are two genes that are important to fighting cancer. They are tumour suppressor genes. When they work normally, these genes help keep breast, ovarian, and other types of cells from growing and dividing too rapidly or in an uncontrolled way.

The gene testing for BRCA is performed on those whose close blood relatives have suffered from breast cancer. The test is a blood test that uses DNA analysis to identify harmful changes in either one of the two breast cancer susceptibility genes.

People who may have an inherited mutation based on personal or family history of breast cancer or ovarian cancer are at an increased risk of developing breast cancer and ovarian cancer compared with the general population. The BRCA gene test isn't routinely performed on people at average risk of breast and ovarian cancers. The average lifetime risk of breast cancer for women is about 12%. For women who have a BRCA1 or BRCA2 mutation, the risk of developing breast cancer in your lifetime is between 69% and 72%, about 6 times greater than that of a woman who does not have the mutation. One must also understand that only 15% to 20% of women with ovarian or breast cancer have BRCA and other mutations that are definitely known to cause cancer.

These gene mutations in BRCA1 or BRCA2, significantly increase the risk of:

If a gene mutation is detected, one can work together with their doctor to manage the risk. There's no risk associated with being tested for a BRCA gene mutation other than the slight risks, including light-headedness, bleeding or bruising of having blood drawn. However, less talked about are the emotional and social consequences surrounding genetic testing and of the test results.

The journey will be fuelled with emotions, whatever be the results. If one tests positive for an inherited genetic mutation, they have feelings of anxiety, anger, sadness or depression, concerns over possible insurance discrimination and making difficult decisions about preventive measures that have long-term consequences. On the other hand, if one test negative for a BRCA mutation, one may experience survivor guilt or uncertainty towards the authenticity of the results.

To overcome these hesitations, we must consult healthcare professionals and seek their guidance before it is too late for us. Regular screenings and tests are one of the many ways we can take care of our future and our current wellbeing as well.

(The article is contributed by Dr Rajeev Agarwal Senior Director Breast Services, Medanta)

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BRCA Gene Testing: Who Is Vulnerable To Breast Cancer And What Is The Test That Helps You Understand? - TheHealthSite

NEW YORK Investigators with the Children's Mercy Research Institute in Kansas City's Genomic Answers for Kids (GA4K) project have released genome sequence data for thousands of participants in an effort to better understand pediatric rare diseases. But this first batch of data only represents a fraction of what they expect to be able to share in coming years as the program continues.

"Genomic Answers for Kids is our approach to change the outcomes for rare disease families, primarily in the greater Kansas City area, where Children's Mercy's main catchment area is," explained Tomi Pastinen, director of the Children's Mercy Genomic Medicine Center and a researcher with the University of Missouri-Kansas City School of Medicine. While the program accepts patients from other institutions, as well, more than 90 percent of patients come from the area, he added.

"By building a large database from tens of thousands of individuals in our area, we will disseminate the data and enable rare disease discovery throughout the country and beyond, globally," he noted.

The GA4K project is being done through the Children's Mercy Research Institute, which openedthis year,following a large fundraising effort. The team has been doing related sequencing work for two years and has already enrolled thousands of pediatric patients and their family members. The sequencing analyses include one or both parents, when possible, although a subset of the rare disease patients are tested as singletons or analyzed with the help of sequences from unaffected siblings.

In addition to increasing research into pediatric rare diseases, the program is intended to boost the coverage of genomic medicine services and increase access to genomic testing when appropriate, Pastinen noted, particularly for families that are not being reached by existing genetics or genomics programs.

"We see disparities across our catchment region and, as usual with health disparities, these touch mostly minorities and inner-city populations, as well as some rural populations," he said.

Pastinen emphasized that the sequencing and analytical work is offered for free to families seeking rare disease diagnoses. Participating patients and their families donate their data, which is subsequently shared with other scientists in a de-identified manner to encourage rare disease research (the GA4K team has pledged that it will not sell participant data).

Although the diagnoses through GA4K have led to treatment or clinical management changes for a small subset of patients so far, Pastinen explained, genetic testing can frequently provide families with an explanation for a child's mysterious symptoms, bringing the often stressful, time-consuming, and frustrating processes of seeking a diagnosis to a close.

That was the case for Celia Steele, a girl from Wichita, Kansas, who began experiencing developmental delays, movement problems, epilepsy, and other symptoms at around the time that her twin brother began to crawl and walk. Her family had been looking for answers since she was a year or two old.

"It's been a long journey. We first got to Children's Mercy in the genetics department probably six years ago," recalled Celia's mother TeresaCruz-Steele. "We tried everything that we could locally here in Wichita to figure out what was happening. Nobody here in Wichita knew they sent us to all kinds of different doctors, thinking it was GI issues and all kinds of different things."

A local neurologist referred Celia to a genetics department, where tests repeatedly came back negative. "Nothing's ever really come back to say anything about why she has a movement disorder, why she's delayed," Cruz-Steele said. "She doesn't walk, she doesn't talk."

The family started to get some answers when a doctor at Children's Mercy told them that Celia had dystonia sometimes painful, involuntary muscle contractions. Around 2019, a neurologist told them about GA4K and they thought "why not"? Celia's parents both had blood drawn for DNA testing and participated in interviews. After that, though, they largely forgot about it, as Celia's immediate health concerns took precedent.

While staying close to home during the COVID-19 pandemic last fall, Cruz-Steele got a call that brought tears of relief: Exome and genome sequencing in parallel through the GA4K program showed that Celia carries an altered version of the PDE2A gene that has been linked to many of the same symptoms she experiences.

The long-awaited genetic diagnosis has not changed Celia's day-to-day care. But now, her mother explained, "we know the reason why she's delayed. We know why she has dystonia."

"It's just, honestly, a relief," Cruz-Steele said. "It's one of those things that was always there, and we never knew why. Now at least we have some idea what's going on."

The diagnosis also makes it possible to keep tabs on PDE2A-related research and treatment advances in the future, she noted, and to find out more about the symptoms or medical requirements that other children or adults with the condition experience at different points in their lives.

So far, the GA4K investigators have been able to make nearly 600 genetic diagnoses for Celia and other children, starting with exome sequencing and expanding their analyses to whole-genome sequencing and long-read whole-genome sequencing for patients who do not get diagnostic answers from protein-coding sequences alone.

The team added more than 2,300 of those genome sequences to the National Institutes of Health dbGAP database last month, and submits data to public databases such as ClinVar.

Along with collaborations with other groups working on rare undiagnosed diseases, the GA4K group has also set up a larger repository for registered researchers and clinicians that is updated each week with de-identified genetic data, prioritized variant information, and electronic medical record-based patient phenotypes.

"I think that's a key thing for the future: to have a dynamic analysis of genetic variation, but also the evolution of a patient's clinical picture in parallel," Pastinen said. "That's going to augment discoveries. Without this data sharing, [some] families will remain in limbo, because [many] families that are undiagnosed do have significant findings in their genome. We just can't call them diagnostic as of today."

The team also described a subset of the cases assessed by both exome sequencing and Pacific Biosciences long-read genome sequencing in a preprint posted to MedRxiv in mid-October. That study focused on 1,083 patients from 960 participating families and provided an opportunity to look at the additional data offered by long-read sequencing.

In that group, almost 35 percent of patients with no previous genetic testing received a diagnosis following the team's sequencing-based testing and machine learning-based genetic variant prioritization efforts, as did 11 percent of the rare disease patients with genetic tests that came up negative in the past.

Even more patients more than half of those who did not get a definitive diagnosis carried variants of uncertain significance, the researchers reported. Within that set, they went on to find more than 150 promising candidate genes with the help of the GeneMatcher service from the Baylor-Hopkins Center for Mendelian Genomics.

"[T]he majority of unsolved cases in our cohort do have candidate genes and variants but lack sufficient evidence to assign pathogenicity due to a lack of replication (also known as the 'n of 1' problem), with hundreds of genes and variants currently followed through GeneMatcher," the preprint authors wrote.

For the broader GA4K effort, the investigators are applying still other analyses to better understand the yet-to-be-diagnosed cases. For example, they hope to develop induced pluripotent stem cell lines that can be used to derive disease-relevant tissue models for functional, transcriptomic, and epigenomic analyses.

"Our current approach, which we've been working on with investigators at the genome center here, is to systematically derive pluripotent stem cells from the patients. Then the stem cell transcriptome and epigenome already increases the ability to look at many disease genes as compared to blood," Pastinen explained. "And then, of course, the stem cells down the road will give us abilities to look at other [derived] tissue types."

The availability of RNA sequences and epigenetic profiles could also prove useful for interpreting structural variants detected with long-read sequences, he noted. Due to capacity limitations, long-read genome sequencing is currently being applied to cases that both remain negative after exome sequencing and have DNA from both parents available for analyses, though that may change in the longer term, depending on the diagnostic yield associated with the approach.

Among the 906 families included in the MedRxiv preprint, for example, the investigators detected more than four times as many of those rare structural changes with long-read genomes compared to genome sequences generated with short reads alone.

"We believe that there's a proportion of variation that is due to genetic changes that are difficult to observe by current ways of clinical genome sequencing, particularly structural variants," Pastinen explained. "And we have some evidence of that through the early stages of our program: 5 to 15 percent of missed diagnoses that are diagnosable with current criteria are due to these structural variants that are kind of in a blind spot of short-read sequencing, as well as clinical microarray technology."

Nearly 6,300 individuals from more than 2,700 families have enrolled in the GA4K program so far, and the pediatric genomes that were recently released to public databases represent roughly half of the individuals who have been sequenced, Pastinen said. He noted that the registered access database contains more than 5,000 sequences, which could be released to dbGAP by as early as the end of this year.

The investigators expect to sequence some 30,000 children with rare diseases over the full seven years of the GA4K project. They have already secured around $18 million from philanthropic sources in the Kansas City area, Pastinen said, and established relationships with some commercial firms.

An additional funding drive is underway, and the team is considering other options from federal support or commercial collaborations that do not compromise the data sharing spirit of the project to new avenues for reimbursement, he added, all while streamlining testing and trying to bring the cost down.

"Over time, we hope we'll be able to solve over 50 percent of the cases of suspected rare genetic disease. And through the tools that we develop, and data sharing, [we hope] that we are able to accelerate the current diagnostic odyssey which is, in our jurisdiction, about four years per patient for a positive diagnosis," Pastinen said. "We haven't yet engaged with the payors on the new models of delivering genomic medicine, but obviously, as we go along, we need to get this engulfed in the traditional reimbursement for genomic medicine."

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Genomic Answers for Kids Team Releases Thousands of Genomes to Gain Insights Into Rare Diseases - GenomeWeb

The Mayo Clinic is developing a breakthrough blood test that can detect more than 50 different types of cancer across all stages.

The test, known as Galleri, was created in partnership with Menlo Park, California-based biotechnology and pharmaceutical company Grail.

Galleri looks for signals present in the bloodstream that may be associated with cancer at the time of a blood draw.

The test uses next-generation sequencing and machine-learning algorithms to analyze methylation patterns of cell-free DNA (cfDNA) in the bloodstream, which can carry cancer-specific information. DNA methylation is a process used by cells to regulate gene expression. If a cancer signal is detected, Galleri will pinpoint where in the body the cancer is coming from to help health care providers determine the appropriate next steps for patient treatment.

Currently, recommended cancer screenings in the U.S. only cover five different types of cancer and can only screen for one type at a time. According to Grail, 71% of cancer deaths are caused by cancers that are not commonly screened for.

FILE - Galleri blood test for cancer detection. (Grail)

RELATED: NIH: Routine genetic testing of some newborns siblings for cancers could cut deaths

Galleri, which is not covered by insurance, costs $949 and must be ordered by a licensed health care provider, such as a physician, nurse practitioner or physician assistants. Grail says that Galleri currently has 89% accuracy in predicting cancer signal origins and estimates that approximately 1 out of every 200 people tested by Galleri receive a false-positive result.

Results typically come about two weeks after the blood draw. Galleri is recommended for use in adults with an elevated risk for cancer, such as those aged 50 or older, and should be used in addition to other routine cancer screening tests, such as a colonoscopy or mammograms.

Grail is currently working to obtain full approval for Galleri from the Food and Drug Administration. A Mayo Clinic spokesperson declined to offer a timeline on when the test will be widely available to consumers.

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Mayo Clinic developing blood test that can spot more than 50 types of cancer - FOX 13 Tampa Bay

A study conducted by UAB researchers found that using genetic information for choosing medical treatment after getting a heart stent reduces the risk of potentially fatal cardiovascular events.

Vibhu Parcha, M.D., and Pankaj Arora, M.D.A recent study published inCirculation: Genomic and Precision Medicinefound that using genetic information to prescribe medications following a stents being placed after a heart attack reduces the risk of fatal outcomes in the future. The findings from theUniversity of Alabama at Birminghamsupport the growing trend of using a patients genetic information to guide common prescription medications for safe and effective treatment.

Patients with coronary artery disease who receive a stent to open blocked arteries in the heart often receive medications to prevent the occurrence of a deadly cardiovascular event such as heart attack, stroke or death. However, Vibhu Parcha, M.D., a clinical research fellow in theUAB Heersink School of MedicineDivision of Cardiovascular Disease, says that, depending on an individuals genetics, these medications could become less effective.

Some of us carry a natural variation in our DNA that impairs our ability to metabolize clot-preventing medication, said Parcha, first author of the study. This can sometimes cause these lifesaving medicines to become less effective. Therefore, an approach of using genetic information to prescribe proper medications after placing a stent has been proposed and recently assessed in an international, multicenter randomized clinical trial.

For this study, the researchers used the data from theTAILOR-PCI trial, which was supported by theNational Heart, Lung, and Blood Institute. The trial was conducted in over 5,300 patients to determine whether using the genetic information when prescribing clot-preventing medications reduces the risk of developing any major cardiovascular event compared with the routine approach. The researchers combined the evidence from this study with information from previously conducted investigations.

Based on the evidence from all randomized clinical trials to date combined with the latest evidence from TAILOR-PCI trial, we found that using the genetic information to guide clot-preventing antiplatelet medications further reduces the risk of developing potentially fatal future cardiovascular events, Parcha said.

Through their research, authors of this study found that patients who were treated with a genotype-based approach had a 99 percent lower chance of having a future stroke, heart attack, a blockage of stents and bleeding episodes compared to those who were treated with a routine clinical approach.

Clopidogrel is a generic affordable medication that is widely prescribed, especially in the southeast United States, among patients getting a heart stent, said senior author Pankaj Arora, M.D., a physician-scientist in UABsDivision of Cardiovascular Disease. We can now modify our treatment approach right after getting a heart stent or even later based on the genetic information to ensure that the risk of someones developing a potentially fatal cardiac event is very small.

Arora adds that the current study provides evidence supporting the use of easy and quick genetic testing when someone is getting a stent. This course of treatment will ensure that patients get a precise and tailored medication regimen to prevent any future cardiac events.

Currently, we are seeing a surge of genomics integrated into routine clinical therapy, Arora said. This is a prime example of using precision medicine principles for a tailored evidence-based medication regimen for every patient.

UAB has been leading the effort of a genomics-ready clinical network through its recently launchedUAB Cardiogenomics Clinic. This clinic offers a one-stop shop to help the patients interpret their genetic results, provide genomic counseling, provide a comprehensive cardiovascular assessment, and provide the latest efficacious cardiovascular diagnostics and therapeutics for common cardiovascular conditions such as hypertension, heart attacks, heart failure, stroke, valvular heart disease and diseases of blood vessels. The clinic provides a broad spectrum of cardiology health care services for people of all ages and those with all types of heart diseases in the southeastern United States.

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UAB researchers determine that using genes to guide medication regimens after getting a heart stent improves outcomes - News - The Mix

Leading Nonprofit's Campaign Encourages Public to Talk, Test, and Take Control During November's Pancreatic Cancer Awareness Month

LOS ANGELES, Nov. 1, 2021 /PRNewswire/ -- The Pancreatic Cancer Action Network (PanCAN) launched its annual Pancreatic Cancer Awareness Month campaign today to raise awareness of the world's toughest cancer. This November, PanCAN is emphasizing the importance of starting a conversation about testing for pancreatic cancer patients and their first-degree relatives. Joining PanCAN to highlight this campaign is "Yellowstone" actress Jen Landon, who lost her father actor Michael Landon to pancreatic cancer in 1991 when she was only 7 years old. Landon is speaking out in a public service announcement (PSA) and digital campaign for PanCAN to encourage families to "Talk, Test, and Take Control," highlighting three simple steps that could save lives.

"My father passed away from pancreatic cancer only three months after he was diagnosed two months longer than doctors gave him to live," said Landon, while on set with PanCAN. "When I started having my own health issues and knowing my own family history with the disease, I decided it was important to me to take control of my health and get tested to understand my own personal risk."

Previously, it was thought that a person's risk for pancreatic cancer was increased only if two or more family members were affected and, at that point, genetic testing would be recommended. However, the most recent guidelines released by the National Comprehensive Cancer Network (NCCN) indicate knowing your genetic risk may be important after only one first-degree relative a parent, child, or sibling is diagnosed with the disease. Specifically, if the diagnosed family member was found to have a genetic mutation or if they were unable to be tested, it is recommended for first-degree relatives to speak to a genetic counselor about next steps which may include genetic testing. Inherited risk also increases if more family members are affected, or if there is a history of familial breast, ovarian or colon cancer, familial melanoma, or hereditary pancreatitis. PanCAN offers a Family History Worksheet that can be downloaded and completed to start the conversation with your healthcare provider.

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"Knowledge is power. For those who may have a brother, sister, mother, father, or child who has had pancreatic cancer, we recommend that you talk to your doctor to help you understand whether you should have genetic testing, and PanCAN Patient Services can help you prepare for that conversation," said Julie Fleshman, JD, MBA, president and CEO of PanCAN. "PanCAN Patient Services has free resources and information to help you understand why testing is important for early detection of pancreatic cancer, as well as to determine the best treatment options if you've already been diagnosed."

Genetic testing can be requested by a doctor, genetic counselor or other healthcare provider and is most often performed through a blood or saliva analysis. If you learn you have an elevated risk for pancreatic cancer, you may qualify for a surveillance or screening program for regular monitoring, which can also help advance research into early detection for the disease.

The five-year survival rate for pancreatic cancer is just 10%. In 2021 more than 60,000 Americans will be diagnosed with pancreatic cancer and approximately 48,000 will die from the disease, making it the third leading cause of cancer death in the United States. Because the symptoms can be vague, pancreatic cancer is most often diagnosed at a late stage after the disease has spread, when surgery is no longer an option and treatment is limited to chemotherapy. An early detection strategy for pancreatic cancer is critical to changing patient outcomes and increasing survival.

For people already diagnosed with pancreatic cancer, PanCAN strongly recommends genetic testing for inherited mutations as soon as possible after diagnosis which can also help inform family members of their own risk. Additionally, PanCAN recommends all pancreatic cancer patients receive biomarker testing of their tumor tissue through a precision medicine service like PanCAN's Know Your Tumor to understand if their biology may help inform treatment decisions.

A study published in Lancet Oncology by PanCAN and Perthera, Inc. in 2020, which analyzed more than 1,000 pancreatic cancer patients enrolled in PanCAN's Know Your Tumor service, found that patients who receive matched therapies following biomarker testing of their tumor saw an overall survival benefit of one year longer than those who did not.

PanCAN Patient Services offers free, personalized, one-to-one support for patients and families who are interested in learning more about biomarker or genetic testing.

To learn more about PanCAN Patient Services, genetic and biomarker testing, or to see how you can support the nonprofit's efforts and take action all month, including on World Pancreatic Cancer Day (Nov. 18), visit pancan.org and follow PanCAN on Twitter, Instagram and Facebook.

About the Pancreatic Cancer Action NetworkThe Pancreatic Cancer Action Network (PanCAN) leads the way in accelerating critical progress for pancreatic cancer patients. PanCAN takes bold action by funding life-saving research, providing personalized patient services and creating a community of supporters and volunteers who will stop at nothing to create a world in which all pancreatic cancer patients will thrive.

Media Contacts:Jillian ScholtenSenior Public Relations ManagerPancreatic Cancer Action NetworkDirect: 310-706-3360E-mail: jscholten@pancan.org

November is Pancreatic Cancer Awareness Month

The Pancreatic Cancer Action Network (PanCAN) is dedicated to fighting the worlds toughest cancer. In our urgent mission to save lives, we attack pancreatic cancer on all fronts: research, clinical initiatives, patient services and advocacy. Our effort is amplified by a nationwide network of grassroots support. We are determined to improve outcomes for todays patients and those diagnosed in the future. (PRNewsfoto/Pancreatic Cancer Action Network)

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Actress Jen Landon Joins Pancreatic Cancer Action Network To Bring Awareness To The Importance Of Genetic Testing For Inherited Cancer Risk - Yahoo...

My eyes flutter open. Im surrounded by four nurses holding me upside down. They shake me back and forth, urging the blood back to my head. As I regain consciousness I wonder: is this worth it? That it is the $10,000 question.

Seven months ago, I received my acceptance to Columbia Universitys School of Journalism. I was absolutely stunned to be admitted, but even more shocked by the $116,000 price tag and that was just for tuition. The school, whose education is widely considered the golden standard in journalism, would provide me with unparalleled access, in an industry I currently felt immobile in.

Fortunately, the vast majority of the cost would be covered by scholarships. For the remaining rent and living costs, I looked for something else to plug the gap. I landed on a burgeoning industry offering struggling people vast amounts of cash, relatively fast: egg donation.

Its 90-something degrees on a June morning in New York City. My wrinkled, green satin skirt sticks to my legs as I rush into the egg donation clinics main office for another screening, a urine test.

Over the last four months Ive been lying to my somewhat conservative family about where Ive been escaping to on these early mornings: surreptitiously showing up for examinations and psychological assessments in order to donate my eggs.

Outside of my family, Ill more often say Im selling my eggs. Donation is a term that is supposed to reflect that its a womans time, not the value of her eggs, thats being paid for. But here was an industry offering me more per hour than Id ever earned at a regular job. To say Im selling feels more honest.

In the clinics main office, Amy Winehouses deep voice plays softly on a nearby speaker. Looking around the waiting room, with its lavender and gray accents splashing the walls, I quickly realize Im the only woman sitting alone. I share fleeting glances with giggling couples and wonder if any of them are sizing me up as a possible donor.

Sometime after my arrival, a nurse calls my name. Amy Winehouses harmonies fade away. She takes me to a chair in a hallway: a dozen or so vials clinking around on an attached tray. The space feels cold and sterile. The silence is oppressive. I try to remember if I ate breakfast I didnt.

A nurse scoots over and pulls my arm over the cuff of the chair.

Beautiful veins, she says.

After she has filled eight or so vials with my blood, I slump over and pass out. When I awake, the nurses have swept me into the air. Semi-conscious, and embarrassed I stumble over an apology.

Im escorted to a gynecological chair in a nearby examination room and given a pineapple flavored lollipop. I lean my head back against the cold chair. Another nurse walks in, showing off more vials in her hand. I roll up my sleeve and hold out my other arm. Time for round two.

I first called the egg donation clinic back in March 2021 moments before I attended Columbia Journalism Schools introduction day. The first time I heard of donation was through a friend during my undergraduate studies. I knew I couldnt risk the distraction and stress of a job while studying at Columbia full-time. Plus, the schools administration reminded us outright that we were to avoid employment during our studies.

The Google search that led me to my new career choice was simple: Egg donation agencies in New York City. Im not the only one to type it. Every year, donors are being paid in the thousands to provide eggs to prospective parents. The CDC found that in under a decade, IVF cycles using donor eggs nearly tripled, from roughly 5,000 in 2007 to more than 13,000 in 2016.

The woman on the phone was cheery but meticulous when she described the process. In contrast, my first visit to the clinics SoHo office was impersonal. During my ultrasound, awe-struck as I gazed into the contents of my ovaries and uterus, my doctor spoke about me to the nurse, but not to me.

In a traditional doctor-patient relationship, the doctors bedside manner is fundamental. In the US where healthcare is privatized and people weigh up doctors as if their health were a business transaction medical offices treat you well because they want you to come back. My first day in SoHo made me realize that this time, I wasnt the patient. I was the product.

The bloodwork from that first appointment was sent off to a genetic testing facility, Sema4, which tested 283 of my genes against hundreds of disorders. Those ranged from cystic fibrosis and Fragile X syndrome which has been connected to autism to maple syrup urine disease, a disorder where the body cannot process certain amino acids.

I tested positive as a carrier for three genetic conditions: dystrophic epidermolysis bullosa a condition that creates skin so fragile that it blisters and breaks easily, leaving severe scarring; metachromatic leukodystrophy a rare genetic disorder; and non-syndromic hearing loss. I felt a mixture of shock and morbid curiosity hearing the results, though the clinic reassured me it was normal to test positive for a small handful of genetic disorders.

Epidermolysis bullosa has no cure, and people born with the condition are at increased risk for an extremely aggressive form of skin cancer. The Sema4 representative playfully told me not to fall in love with Finnish people, who are more likely to have the same skin condition.

The call offered a window into a different world: where everybody is a carrier of disease, myself included. I was forced to confront a reality where I might pass on complex disorders to my children, ones I never thought I had.

The clinic was not just assessing my predisposition for genetic disorders, it was also weighing up other attributes: my blonde hair, my blue eyes and my fair skin. Over screening calls, team members would subtly compliment and affirm descriptions of my body, personality and ivy league education. Altogether, I had concerns this was sanitized eugenics. But through what other language did I expect them to build a relationship with me? They were paying me $10,000 for my eggs. The very nature of our business revolved around my body.

In May, early on in the process, the clinic set me up to speak with their psychologist. Lounging in the hammock on my balcony, I was exposed to the philosophy of the clinic. My eggs werent mine and my eggs were certainly not synonymous with my child. Rather, they saw my eggs as a part of a larger gene pool, one that spanned generations and geographic locations.

I was concerned the psychologist was assessing my mental health, looking to disqualify me from the process, but as our conversation flowed I realized she was actually trying to ascertain whether I was intelligent enough to make the decision to give away my eggs. She gave me an IQ test. It was New York state regulation.

The idea that my eggs werent mine but rather some genetic tie to the past struck me as odd and uncomfortable at first, but over time I grew to prefer that framing to my own. I wasnt giving up my child - I was giving up another period. This would help struggling parents conceive children of their own. There was something wholesome about that.

The idea that a small child, that looked like me would roam the world while I experienced my early twenties never phased me. The thought actually warmed my heart.

I grew to realize I wanted children of my own one day, and part of me yearned for the experience I was offering to someone else. I imagined the mom who would take my eggs.

Was she funny? What kind of school lunches would she pack? Was she compassionate and patient? Would she hold the childs hand often? Did her moral values reflect my own? I would never know. My donation was anonymous end-to-end.

By summertime, the clinic had taken me off of my birth control and put me on their own. One morning when I went to their office to collect an envelope of the beige pills, the nurse handing them to me apologized, saying she didnt understand why it was taking so long to match me with a family.

Youre a hot commodity, she said.

We paused for a moment, staring at one another. My hair had fallen in front of my eyes. I pushed the dirty blonde strands back behind my ear before erupting in uncomfortable laughter. We both knew what she meant.

A few days away from my egg retrieval date I was sitting on the edge of my bed feeling truly unsettled. It was late, and in the quiet I felt the calm ripped away from me as I laid out one of the last packs of medication, a 250 microgram syringe of Ganirelix, on my table stand.

It took some mental gymnastics to learn to inject myself with hormones twice daily. Each medication had a different ritual. In the morning, a yellow and blue plastic pen would deliver 225 ml of Follistim, clicking as I pushed the pen down to dispense the refrigerated serum. In the evenings, I would mix a vial of Menopur. Combined, these two drugs worked to stimulate the follicles in my ovaries, aiming to release anywhere between 10-20 eggs normally, just one egg is released during ovulation.

Days before retrieval, Ganirelix would prevent me from ovulating, giving the eggs a chance to mature before they descended into my uterus to be removed.

This final stage numbed me. The rigamarole of daily injections and 7 am ultrasounds had worn me down, and I was tired. On the horizon, I still had one more hurdle: retrieval. I ran my hand over my stomach, feeling the tender needle sites and the bloat underneath, not wanting to undergo the surgery but also knowing it was too late to turn back. I grabbed my first syringe of Ganirelix and took a deep breath.

I surveyed a dozen women of varying ages and backgrounds on their personal experiences donating. Unlike infertility forums for people going through IVF or surrogacy, there was no clear online location where donors could support each other through the process of egg donation. Instead, I found them scattered across private Facebook groups, WhatsApp chats and Reddit.

Most donated during their early twenties and all participated for the financial compensation, at least originally. There was a pay scale, largely determined by geographic location and time of donation, ranging from $3,000 to $20,000. Women used the money to pay for bills, student loans or vacations.

Some donors matched with intended parents or agencies through advertisements placed on Facebook or Instagram. Others found their matches on Craigslist, responding to blanket ads not dissimilarly phrased to those looking to sell a bicycle, apartment or car.

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Chinese, Vietnam, Korean, Asian Egg Donors Earn $10,000

Seeking a Highly Intelligent Egg Donor! Compensation up to $40K

Since these listings are sometimes posted directly by the intended parents, they may have shorter or less thorough initial application processes, and they can offer significantly higher monetary sums than agencies or clinics traditionally would. But applying to unverified listings poses obvious risks. In 2011, an Idaho woman was charged with fraud for stealing eggs from donors through Craigslist, never paying the agreed upon sums after receiving the eggs.

Attempting, in part, to make the process safer, organizations began pairing donors and intended parents through their own vetted databases. Prospective parents, can now scroll through the profiles of thousands of potential donors, not unlike on a dating website. Circle Surrogacy offers non-anonymous pairings, where the donor has an opportunity to meet and interact with the families.

Jordan Whaley Finnertys profile features an image of her then five-year-old daughter all smiles beside her mom. Whaley set it up when she was 27.

That was in 2018, after a wine night with a friend who had just undergone a donation herself Finnerty was intrigued, especially by the $9,000 lump sum. She wasnt desperate for the money, but she knew it would help her stop living paycheck to paycheck. She applied that night and forgot about it.

Four months later I was donating, Finnerty said.

Since then, Finnerty has donated four times.

It wasnt until I was matched with a family, met them, [and] spoke with them that I realized the impact, said Finnerty. You dont realize the lengths couples have to go through to have children. Shes had contact with all of the families shes donated to. Being exposed to the parents gratitude changed her mind. Now, the goodwill of element, not the money, is her favorite part: She plans to donate six times the maximum advisable.

Still, she acknowledges certain issues in the industry.

Speaking with intended parents, they express how weird it is to be going over girls profiles and looking into their health history, basing their preferences off of hair color or eye color, Finnerty told me over Facebook one evening.

But she also knows that people make these choices with their partners all the time.

To prevent people from donating repeatedly (with the risks being unknown), or incentivizing people to withhold information to make themselves more attractive to donors, ethical guidelines suggest offering less money.

In a recent opinion published by American Society for Reproductive Medicine which dissuades agencies from compensating donors more than $10,000 the society found that 88% of donors compensated up to $5,000 for their eggs answered in a self-report questionnaire that being able to help someone was their biggest motivation.

I think [people assume] theres a sense of coercion out there, but theres really none of that, said Deborah Mecerod who runs MyEggBank, the largest egg donation bank network in the US. Their policy is to offer one flat-fee as payment, capped at $10,000. Mecerod feels the experience is very rewarding for prospective donors, through the education and free genetic testing, even if they choose not to follow through with the donation. Theres always the option to leave the process, she said.

While many women admit to being pulled in by the amount they can earn from their eggs, most I spoke to still saw it as a choice.

The first and second time I was unemployed or barely employed, so in a way [I needed the money] but I wasnt desperate for it, explains Dolan Wells Gallagher, who has now donated her eggs three times. The first and second time she used the money to cover rent while she was between jobs, the third time, to pay tuition fees.

Data and long-term research on egg donation is scarce. In 2016, new research suggested that fertility drugs may be linked to the development of uterine cancers. A 2017 report by The Donor Sibling Registry found suspicious occurrences of breast cancer in otherwise healthy young donors who showed no genetic predisposition to the disease, citing hormone therapy during donation as a possible cause. The lack of information may be misleadingly interpreted as lack of risk, the report warned.

Four years later, theres still no semblance of a long-term database to monitor the health of donors. Furthermore, while health data is monitored for those who donate organs, the same information is not required for egg donation: it is up to donation agencies to request past medical information on donors, and even then they are at the mercy of donors voluntarily doing so and telling the truth when they do. Most are not asked for, and do not report, medical changes after starting the process.

In the meantime, thousands of young donors every year undergo egg removal and hormone treatment, without anyone fully understanding the consequences.

Having a donor registry would be such a great tool for so many different reasons, because you could collect data from the donor, how shes doing and follow up in years to come, explains Mecerod, who believes legislation and federal government intervention would help solve this problem.

But most women I interviewed didnt seem too bogged down by the ramifications of long-term health complications. Most of them needed the money. When the cycle ends, the donors leave with the future impacts a mystery.

Up until the very end of my first donation, I felt positive about my experience. Despite fainting; feeling objectified and shuffled around; despite the laborious injections, I still liked it. I felt comfort and satisfaction knowing I helped people achieve their dreams.

But in the final days ticking down to my surgery, I felt a slew of emotions that confused what I thought would be a rewarding end.

I felt at the mercy of the clinic. Appointments were made at locations Id asked not to be sent to, because they were out of my way. Some days I didnt receive updates about how much medication I should take, leaving me to take a stab in the dark at the dosage. I didnt find out when my surgery would be until two days before the event.

On the day before my surgery, I asked a nurse point-blank why they scheduled surgeries with such little advance. She didnt know. I felt disrespected and angry. The company was inconsiderate of my time, and I was suddenly left scrambling around to make sure someone could still pick me up from my surgery the following day.

I was expected to have absolute flexibility. Appointments popped up and I was expected to be available. As the week wore on, my enlarged ovaries sat heavy in my abdomen as a thick and uncomfortable reminder.

After my final appointment on Tuesday, I wrote in my journal: At this stage I genuinely do feel left in the dark and I dont really want to deal with these people anymore. I wonder if the woman receiving my eggs is more informed than I am.

Still, I looked forward to receiving the $10,000 check. Life in New York, one of the worlds most expensive cities, took unexpected tolls on my wallet on a daily basis. The arrival of this check would quell my anxiety for a handful of months, allowing me to return to my studies stress-free studies which would offer me stability and confidence towards my dream job. Every piece was a steppingstone towards a future I desperately wanted.

My surgery lasted a total of seven minutes and laid me up in bed for a day and a half at home, as my stomach cramped and contorted. The clinic offered me no pain relievers, so I lived on a cocktail of Tylenol and Advil. Fortunately, my pain wasnt too bad. Reflecting on the procedure as a whole, I jotted down a couple lines in my journal: I would consider doing this again. I do worry about how it would impact my body, but the impact on my life would be so significant. I dont know if I could deny that.

Here is the original post:
I sold my eggs for an Ivy League education but was it worth it? - The Guardian

IRVINE, Calif.and TEMPLE CITY, Calif., Nov. 1, 2021 /PRNewswire/ --Helio Health("Helio"), an AI-driven healthcare company developing blood-based early cancer detection tests, and Fulgent Genetics, Inc. (NASDAQ: FLGT) ("Fulgent"), a technology-based genetic testing company focused on transforming patient care in oncology, infectious and rare diseases, and reproductive health, today announced its upcoming late-breaking poster presentation on the performanceof HelioLiver, a multi-analyte blood test that utilizes both cell-free DNA (cfDNA) methylation patterns and protein tumor markers for the detection of hepatocellular carcinoma (HCC), at The Liver Meeting 2021. The annual meeting is hosted by the American Association for the Study of Liver Diseases (AASLD) and will be held virtually November 12-15, 2021.

Details of the poster presentation are as follows:

Poster Title:A Multi-Analyte Blood Test for Accurate and Early Detection of Hepatocellular Carcinoma Publication Number:LP44Session Title: Late-breaking Abstract Posters Presenter: David J. Taggart, PhD, NRCC(CC) Laboratory Director and Vice President of Laboratory Operations and Regulatory Affairs, Helio Health Inc.

The full abstract can be found here. The poster presentation will be available for viewing by the attendees of The Liver Meeting throughout the entire meeting.

About Helio Health

Helio Health is an AI-driven healthcare company focused on commercializing early cancer detection tests from a simple blood draw. The company's mission is to simplify cancer screening so lives can be saved by detecting cancer earlier. With Helio's AI-driven technology, both physicians and their patients gain powerful insights from accurate, accessible, and convenient blood tests.

Building on a robust research and development program, and with access to thousands of patient samples, the company is currently in clinical trials in the US and China with its lead liver cancer detection test. Helio's development program is focused on liver, colon, breast and lung cancer.

Helio Health is headquartered in Irvine, CA, with R&D, GMP and CLIA facilities in Irvine, CA and West Lafayette, IN, Guangzhou and Beijing.

About Fulgent Genetics

Fulgent Genetics is a technology-based genetic testing company focused on transforming patient care in oncology, infectious and rare diseases, and reproductive health. Fulgent's proprietary technology platform has created a broad, flexible test menu and the ability to continually expand and improve its proprietary genetic reference library while maintaining accessible pricing, high accuracy, and competitive turnaround times. Combining next generation sequencing with its technology platform, Fulgent performs full-gene sequencing with deletion/duplication analysis in an array of panels that can be tailored to meet specific customer needs. A cornerstone of our business is our ability to provide expansive options and flexibility for all clients' unique testing needs through a comprehensive technology offering including cloud computing, pipeline services, record management, web portal services, clinical workflow, sequencing as a service and automated lab services.

About Helio Health and Fulgent Genetics Partnership

In a strategic partnership announced in August of 2021, Helio Health and Fulgent Genetics plan to commercialize and co-brand HelioLiver, a cell-free DNA (cfDNA) methylation blood test that incorporates protein markers and demographics for the detection of hepatocellular carcinoma (HCC) or liver cancer. HelioLiver is currently undergoing clinical trials in the U.S. and China. Fulgent will be responsible for laboratory operations, supply chain operations, and marketing and sales leveraging its operational excellence and significant market reach, initially focused in the U.S. and Canada. Helio will provide intellectual property and continued support across research and development, publication development, market access and sales, as well as reimbursement operations. Fulgent and Helio will also collaborate on the development of additional liquid biopsy tests for different types of cancer in the future.

SOURCE Helio Health and Fulgent Genetics, Inc.

See the article here:
Helio Health and Fulgent Genetics to Present New Data on HelioLiver in Late-Breaking Presentation at The Liver Meeting 2021 - PRNewswire

Kristie L. Kahl: Can you explain what the genetic risk is when it comes to VHL?

Stacy Lloyd: There is a 50/50 chance of the VHL being passed down from parent to child. Only about 20% of VHL cases are actually that de novo kind of first-in-family.

Kristie L. Kahl: Why is it important to talk about hereditary conditions, especially when it comes to a cancer diagnosis?

Stacy Lloyd: So, VHL isn't something that goes away. It's truly better and maybe this is personal feeling but I do feel very strongly that it is truly better to know what you're dealing with and be empowered as a patient to take care of yourself so that it doesn't get to a point where you are in an emergency situation. For example, not getting those regular eyes exams could result in partial or full loss of vision. So, family members that are at risk to also have this disease should know and be able to seek confirmation through that genetic testing so that they can take care of themselves and detect any tumors early on.

Kristie L. Kahl: If someone has a family history of cancer, why is it important for them to make sure they're also getting genetic counseling?

Stacy Lloyd: I feel like it's a little bit of a personal decision, and some people are open to it and welcome it, other people don't find as much value. But I think it can be a really powerful tool for patients to educate themselves on the disease and the genetics behind it, what their risk is. And this is important for VHL, but its also important for other cancer syndromes, too. (They can learn) what they can expect throughout their life dealing with this (condition) and it just is a way to really empower you, as a patient, empower your family, be able to have informed conversations about the disease and the management of the disease that will ultimately be with you for a lifetime as it stands today.

Kristie L. Kahl: How can one family members genetic testing results impact an earlier diagnosis for another family member?

Stacy Lloyd: Once VHL is detected in the family, it does prompt others to get tested. And once confirmed, that surveillance can start. Before you have that diagnosis, you might not be able to get all of the actual surveillance that's needed to cover all of the manifestations, whether that be an insurance issue, whether that be a physician that feels more comfortable doing all of those different tests once you have a confirmed diagnosis. So some of that really needs to happen before you can even get the surveillance that might be needed to track some of this.

An early diagnosis can result in that higher quality of life, being able to know and watch some of the tumors that might be small as they grow, instead of running into what could be an emergency situation. Additionally, any children can be tested at an early age. And that really is super important. I feel very strongly about regular surveillance for children. I was 10 when my first manifestation happened. So, it doesn't always wait until a certain age or it's not something you might just have to deal with when you're older. So, it's really important to start that early. And kids also don't know what's going on with their bodies. So, they may not even realize that something's wrong. So that's something I think that is so important about the genetic testing and getting that early and often, and having those conversations as part of a family so that you can get that diagnosis early. If it's there, start watching out for things as early as possible.

And something else, I think that that sets a tone for the rest of that child's life. Like, I take care of myself. I've been doing this for so many years. It's a part of my routine, right? And I think setting those early habits of taking care of yourself and getting that surveillance and routine testing early on is really important for people over the course of their lifetime to continue to make sure that they're watching out for these (manifestations).

Kristie L. Kahl: Based off of your experience, do you have any advice for others to start that family discussion?

Stacy Lloyd: Its not an easy one. At some point, you're not always going to get the response that you want. But I think as much as you can set an example and be that person that is doing the right thing for your health and being supportive. You can only do so much. But I think it's just worth having some transparent, honest communication because it's in the best interest of your family to have those conversations. Just being empathetic and caring about the conversation and being respectful of people's choices, is really all you can do.

Read the rest here:
Discussing Hereditary Cancer, VHL Disease With One's Family - Curetoday.com

There's a video of their daughter Laurence that David Benayand Mlissa Madorewill never, ever delete.

The video was taken when Laurence Lolo to her parents and big sisterlose was about 10 months old. In it, the chubby-cheeked baby sits in a highchair and, with a little prompting,says the words "mama" and "papa."

"That was the last time," Benay said. "That video was the last time she said those words."

The couple had noticed other oddities in their younger daughter's development she'd missed important milestones such as rolling over, standing and pointing, and she was having difficulty holding her head up when she crawled.

"She wasn't even able to sit without putting her hand down, which was kind of strange to us," Madore recalled.

Not long after the video was taken, Laurence went forher 12-month checkupand her parents flagged their concerns to thedoctor.

They were referred to a pediatricianwho eventually ordered two rounds of genetic testing to nail down a diagnosis. That would take many more months.

"It was actually a very stressful period for us," saidMadore, who spent hours researching all the possibilities, including autism. "I wasn't sure what it was, but I just knew something wasn't right."

On Sept. 1, 2021, a couple weeksafter her second birthday, Laurence was officially diagnosed with Rett syndrome, araregenetic neurological and developmental disorder that affects about one in every 10,000 children, nearly always girls.

Madore had researched that possibility, too.

"When I looked over to Mel, instantly she was already crying because she knew what that was and what it meant," Benay said.

All childhood diseases are cruel, but Rett syndrome is especially insidious because it robs its young victims of the speechand motor skills they've just developed. One day they can walk, talk and flip pages in a book, then suddenly they can't.

"I knew that Laurence's future was not going to be an easy one," Madore said through tears. "I knew that we would see more regression, and I think that's what I was the most scared of. We had already lived [through] some regression, and that is so hard as a parent, to see your child lose skills."

According to Dr. Melissa Carter, medical director of the Rett syndrome clinic at CHEO, eastern Ontario's children's hospital in Ottawa, most children with the disorder will regressbetween the ages of about 18 months and three years, then plateau until late adolescence or early adulthood.

Even after the regressive stage, many children with Rett syndrome willsuffer seizures,have difficulty breathing and develop scoliosis. Many will eventually need a wheelchair, and while there's little scientificagreement on life expectancy, parents often outlive their children.

"It's really devastating," Carter said of the challenges that come later."You think you've gotten over the initial hurdles and then this happens, so it's really hard to deal with."

Carter said the Rett syndrome clinic at CHEO deals with about 50 patients at any one time.

Now that they've finally put a name to the disorder afflicting their daughter, Benay and Madore are determined to do everything they can to help Laurence develop as normally as possible, including acquiring a new"Crocodile" walker so she can get around by herself.

"Early intervention is huge," Benay said. "We're just fighting for her not to lose more skills."

While the couple saysthe quality of care from CHEO has been "unbelievable," Laurence is currently on wait lists for speech and occupational therapy, as well as an on-sitedaycare where that therapy is provided. The COVID-19 pandemic hasn't exactly helped speed things along.

For now Benay and Madore, both teachers with eastern Ontario's French public school board in Orlans, where the family also lives, covermany of those expenses themselves.

Even with OHIP and their own employee insurance, the family has so far spent about $20,000 on Laurence's care, not including the purchase of a second vehicleto get her to and from all those appointments.

"As soon as we get access to all these therapies, I think it's going to be easier on us," Benay said.

In the meantime, the family has been receiving lots of kind support from the community. The family of another "Rett girl" living in Orlanshas offered practical guidance, as has the Ontario Rett Syndrome Association. A local sports shop donated "Team Lolo" T-shirts, while another businessprovided purple silicone wristbands with the slogan, "Her fight is ourfight."

Alocal artist created special wish bracelets for the family, and a photographer friend offered free portraits, all on display on the Team Lolo Facebook page.

"The support of the community has been incredible," Madore said.

Even with that help, it will be a mighty struggle on multiple fronts. Bothparentshave sought therapy to help them deal with the unimaginable strain of their new reality.

"I say we've made our peace, but sometimes it just gets us,"said Benay.

If he's learned anything from the experience, it'sto never takelife's little moments for granted, he said.

"If I could take back any other time that I went to the park and I was on my cellphone instead of looking at my kids play, I would," he said. "Laurence won't be able to do that."

Originally posted here:
'Team Lolo' rallies round little girl with rare genetic disorder - CBC.ca

When youre diagnosed with lung cancer, the next step will likely be to have a type of genetic test called next-generation sequencing, explains Keith Eaton, MD, PhD, an oncologist at Seattle Cancer Care Alliance and a professor of oncology at the University of Washington School of Medicine. This helps doctors know if the cancer tumors have mutations or alterations that are known to drive cancer growths, he says.

Among the many possible mutations is one on the epidermal growth factor receptor (EGFR) gene. If you test positive for that, it means you have EGFR-positive NSCLC.

EGFR is a protein found on the surface of both healthy and cancer cells. When the protein is damaged because of a genetic mutation, it doesnt perform the way it should, causing rapid cell growth and helping the cancer spread.

Although there are more than 70 different EGFR mutations in NSCLC, most are caused by alterations in exon 19 and exon 21, with exon 18 and exon 20 mutations being less common and more difficult to treat.

Once genetic testing has determined that you have an EGFR mutation, and identified the specific type, your oncologist may prescribe a targeted drug therapy to help slow the growth of cancer cells. Although these drugs wont cure your lung cancer, they can help slow progression of the disease and delay the onset of serious symptoms.

Link:
Targeted Therapies for EGFR+ NSCLC - Everyday Health

Cancer is a condition where some of the bodys cells grow and divide in a way that can be difficult to manage.

Typically, the growth and division of cells is tightly managed and there are many genes that regulate these processes.

When certain genetic changes occur within cells, the way that they grow and divide can become atypical and develop into cancer. There are several factors involved in genetic changes that may lead to developing cancer.

While environmental and lifestyle factors can lead to some of these changes, an individuals genetics also play an important role. Its possible to inherit some gene changes that increase your risk of developing certain types of cancer.

Genetic testing is available to help detect some of the genetic changes that can increase the risk of developing cancer. Keep reading to learn more about this testing, its potential benefits, and whos a good candidate.

Genetic testing is a tool that can be used to learn about inherited cancer risks. Some examples of cancers where specific genes appear to play a role in cancer risk include:

Other cancers where specific genes appear to play a role in cancer risk include some cancers of your:

Genetic testing looks for variations in genes that are associated with an increased risk of cancer. The National Cancer Institute estimates that inherited gene variants contribute to 5 to 10 percent of all cancers.

There are many options for genetic testing. For example, your healthcare professional may recommend a test to look for variants in a single gene. There are also panel tests that can detect variants in several genes.

There are several components that are associated with genetic testing for cancer. Lets explore each of them below:

A healthcare professional, such as a doctor or genetic counselor, will look at both your personal and family medical history to determine if youre a good candidate for genetic testing.

A genetic counselor will work to give you additional information that can help you decide if you want to get tested. This can include information on:

Genetic counselors are also important after testing. They can help you interpret your results and discuss what to do moving forward.

If you decide to get tested, youll be asked to sign an informed consent document. This document confirms that youve been told about things like:

The testing procedure typically involves collecting a blood sample from a vein in your arm. However, it may also be a sample of:

The sample is then analyzed by a lab that specializes in genetic testing. Its possible that it can take several weeks for results to be ready.

When results are available, theyre typically sent to your genetic counselor, who will then contact you to discuss them and develop a plan for next steps.

The different results that you can receive are:

Genetic testing for cancer can have several potential benefits. These can include:

A healthcare professional may recommend genetic testing for cancer when:

Now lets look at some examples of situations where you may consider genetic testing for cancer.

Someone with a strong family history of developing certain types of cancer may choose to get tested to find out their risk level. This is typically the case if:

For example, someone with both a mother and sister that have been diagnosed with breast cancer may choose to be tested for variations in the BRCA1 and BRCA2 genes.

If the test has a positive result, this person can then begin to take preventative steps. These can include things like:

A person thats already been diagnosed with cancer may wish to see if an inheritable factor is present. This is particularly true if they have a family history of certain types of cancer or if they received their diagnosis younger than 50 years old.

Knowing that a relative has a specific genetic variation that increases cancer risk can be beneficial for family members as well. It may prompt them to get genetic testing themselves.

Genetic testing isnt perfect. If you do receive a positive test result for a specific gene variant, it doesnt mean that youll develop cancer. It just means that your risk of developing cancer is increased.

Additionally, remember that all cancers are different. Because of this, different types of variations are associated with different levels of risk. Your genetic counselor will discuss this with you when you get your results.

According to Breastcancer.org, the cost of genetic testing for cancer can vary greatly and can be between $300 and $5,000. How much genetic testing costs can depend on the type of test as well as how complex it is.

What exactly is covered will depend on your specific health insurance plan. Many plans will offer some coverage if genetic testing is considered medically necessary.

If youre considering genetic testing for cancer, contact your insurance provider before getting tested. They can help inform you about what is and isnt covered.

Recently, home-based genetic testing has increased in popularity. These tests typically involve using a swab to collect a sample from your mouth. You then mail this sample back and get your results by:

You may be curious if home-based genetic tests are good for determining your cancer risk.

Overall, its best to talk with a healthcare professional if youre interested in genetic testing to assess your cancer risk. Some reasons for this include:

Genetic testing can help determine if you have certain genetic variations that place you at an increased risk of developing cancer. Its often done when you have a family or personal history of certain types of cancer.

There are many benefits to genetic testing. For example, a negative test result may offer some peace of mind. Or, a positive result could help you start taking steps that can prevent cancer from occurring.

Genetic testing does have limitations. A positive test result doesnt mean with certainty that youll develop cancer, Meanwhile, a negative test result doesnt mean that youll never develop cancer over the course of your lifetime.

A healthcare professional or genetic counselor will work with you to help you decide if genetic testing is right for you. If you do decide to get tested, they can also walk you through what the results mean as well as discuss next steps.

Read the original here:
Genetic Testing for Cancer: Benefits, Risks, Cost, and More - Healthline

Important

There are many things to think about when deciding whether genetic testing is right for you. Although these tests can provide important information about health risks, they can also be upsetting or raise questions about what the results mean. Genetic tests also have certain limitations that are important to understand. Your personal and family medical history, as well as your goals for testing, should all factor into your decisions about whether and how to test.

A genetic counselor, a healthcare professional with special training in genetic conditions, will be able to answer your questions and help you make an informed choice. We recommend that you speak with a genetic counselor before testing, and also after testing to help you understand your results and what actions you should take. This is especially important for health conditions that are preventable or treatable.

Talk to your healthcare provider or click here to search for a genetic counselor near you (this link takes you to a page managed by the National Society of Genetic Counselors: http://www.aboutgeneticcounselors.com/).

Read more:
Information about Genetic Health Risk reports - 23andMe

Most rare retinal diseases including retinitis pigmentosa, Stargardt disease, Usher syndrome and choroideremia are inherited and usually caused by one or more defects (mutations) in a single gene.

Genetic testing is available to attempt to identify the defective gene causing the IRD in an individual or family.

There are potential benefits to knowing the underlying genetic cause of a persons IRD. It may help confirm or refine a diagnosis. Knowing the mutated gene can help a person understand how the disease may affect their vision during their lifetime. It can also guide the testing of family members to identify those at risk of inheriting the condition. Knowing the genetic defect may help people qualify for clinical trials and inform them about which future therapies may be of benefit.

At the same time, the information revealed from a genetic test may not be immediately helpful to an individual or family. In some cases, the knowledge might create anxiety for some family members.

It is very important to remember, however, that a genetic test may not reveal the defective gene, which can be frustrating for a patient and their family.

The decision to undergo genetic testing should not be made lightly. Anyone interested in a genetic test is strongly advised to talk to a genetic counselor or retinal physician who is knowledgeable about the genetic testing process and the potential impacts of the results, before they decide to undertake the test.

The Foundations booklet Genetic Testing For Retinal Degenerative Diseases: Information and Resources for Affected Individuals, Families and Health Care Providers offers additional information on the genetic testing process. While the booklet is not a substitute for a genetic counselor, it can help you better understand and prepare for the process. The last section of the booklet lists additional resources, which may also be helpful.

You can download the booklet by clicking on the hyperlink below or call 800-683-5555 and ask for a copy to be mailed to you.

Here is the original post:
Why Genetic Testing is Important - Foundation Fighting Blindness

If a person develops pancreatic cancer, it may have genetic mutations that affect how it responds to treatment. Genetic testing can provide valuable information to help doctors and individuals make treatment decisions.

Healthcare providers use genetic testing to learn more about the DNA in a persons cells. Specific genetic mutations affect how cancer grows, including pancreatic cancer.

People who dont have cancer may still consider genetic testing, depending on their family history. If someone inherits specific genetic mutations, it raises their risk of developing pancreatic cancer.

Take a moment to learn how doctors may use genetic testing to check for these genetic mutations.

Healthcare providers and genetic counselors use two main types of genetic testing to manage pancreatic cancer: germline testing and somatic testing.

Germline testing, or predictive genetic testing, can identify whether a person has inherited genetic mutations linked to pancreatic cancer. These include certain mutations on the following genes:

Many of these genetic mutations also raise the risk of other types of cancer, such as breast, ovarian, prostate, and colorectal cancer.

A healthcare provider or genetic counselor may recommend germline testing to someone who receives a pancreatic cancer diagnosis. This testing will identify whether the cancer has a genetic link, which may affect the treatment options.

A healthcare provider or genetic counselor may also recommend germline testing to someone who has a strong family history of certain types of cancer or a blood relative who tested positive for certain genetic mutations. If the blood relative has genetic traits linked to pancreatic cancer, those traits may run in the family.

When someone tests positive for genetic mutations linked to pancreatic cancer, their healthcare provider or genetic counselor may encourage their family members to get tested. Doctors call this cascade testing.

If someone receives a diagnosis of pancreatic cancer, their healthcare provider may order somatic, or tumor, testing on a sample of the tumor.

This will identify whether the cancer has mutations in specific genes that affect how it behaves and responds to treatment.

The results of somatic testing help the healthcare provider determine the most suitable and effective treatments. Certain targeted therapies are more effective in treating tumors with specific genetic mutations.

The results of a germline or somatic test may influence a persons treatment plan for pancreatic cancer. That is because certain genetic mutations affect how pancreatic cancer responds to specific treatments.

For instance, research suggests that platinum-based chemotherapy might best suit people with pancreatic cancer who test positive for germline or somatic mutations in DNA repair genes. The BRCA1, BRCA2, and PALB2 genes are three examples of DNA repair genes.

According to a review in Cancer Management and Research, PARP inhibitors provide another promising treatment for pancreatic cancer in people with germline mutations in the BRCA1 or BRCA2 gene.

Scientists continue to study how people with somatic or germline mutations in these genes or other DNA repair genes respond to this treatment.

A persons genetic test results can also help their doctor predict how pancreatic cancer will respond to other medications, such as larotrectinib (Vitrakvi), entrectinib (Rozlytrek), and pembrolizumab (Keytruda).

To conduct genetic testing, a healthcare provider collects a sample of blood or tissue from a persons body. The type of sample depends on which kind of testing they order.

Before someone undergoes germline testing, their healthcare provider or genetic counselor will ask them about their personal and family medical history. This helps them determine whether germline testing is appropriate for them.

To conduct germline testing, a healthcare professional uses a needle and syringe to draw a sample of the persons blood. They send this sample to a laboratory for genetic sequencing.

To conduct somatic testing, a healthcare professional collects a sample of pancreatic cancer from a persons body. They may use endoscopic surgery to collect this sample.

To perform endoscopic surgery, the healthcare professional makes a small incision in the persons abdomen. Then they insert an endoscope, which is a flexible tube, through the incision and use that tube to remove a sample of the tumor.

They then send the sample to a laboratory for genetic testing.

A person can talk to their healthcare provider or genetic counselor to find out about the cost of genetic counseling services and genetic tests.

If someone has health insurance and meets certain criteria, their insurance plan may cover some or all of the costs of germline testing, somatic testing, or genetic counseling.

They may contact their insurance provider to learn if their plan provides coverage, and how much they can expect to pay in co-payment, co-insurance, or deductible charges.

Under federal law in the United States, health insurance providers cannot use genetic tests to decide which people they cover or how much they charge for health insurance.

Federal law does not prevent life insurance, disability insurance, or long-term care insurance providers from using genetic test results to guide their coverage decisions. As a result, some people prefer to pay for genetic counseling and testing out of pocket to keep the results private.

Sometimes the results of genetic tests are inconclusive. In other words, the test may not provide enough information to know if a person has specific genetic mutations or not.

False-negative results are rare, but they do occur. This means that although the test shows a negative result, genetic mutations are present.

To help a person understand the results of their genetic test, their healthcare provider may refer them to a genetic counselor.

A genetic counselor can help the person understand what positive, negative, or inconclusive test results mean for them and their family.

A person should talk to their healthcare provider or a genetic counselor to determine whether they should get genetic testing for pancreatic cancer or other types of cancer.

Their healthcare provider or genetic counselor may recommend germline testing if the person:

Their healthcare provider or genetic counselor might recommend somatic testing if they received a diagnosis of pancreatic cancer.

If someone has a family history of pancreatic cancer or certain other types of cancer, their healthcare provider or genetic counselor may recommend germline testing.

If a person receives a diagnosis of pancreatic cancer, their treatment team may recommend germline testing, somatic testing, or both.

These types of genetic testing can identify the presence of specific genetic mutations that may affect how cancer develops.

Anyone concerned about their cancer risk should talk to their healthcare provider about whether genetic testing is appropriate for them.

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Genetic testing for pancreatic cancer: What to know - Medical News Today

DNA matching techniques to identify someone's father

DNA paternity testing is the use of DNA profiles to determine whether an individual is the biological parent of another individual. Paternity testing can be especially important when the rights and duties of the father are in issue and a child's paternity is in doubt. Tests can also determine the likelihood of someone being a biological grandparent. Though genetic testing is the most reliable standard, older methods also exist, including ABO blood group typing, analysis of various other proteins and enzymes, or using human leukocyte antigen antigens. The current techniques for paternity testing are using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Paternity testing can now also be performed while the woman is still pregnant from a blood draw.[1][2]

DNA testing is currently the most advanced and accurate technology to determine parentage. In a DNA paternity test, the result (called the 'probability of parentage)[3][failed verification] is 0% when the alleged parent is not biologically related to the child, and the probability of parentage is typically 99.99% when the alleged parent is biologically related to the child. However, while almost all individuals have a single and distinct set of genes, rare individuals, known as "chimeras", have at least two different sets of genes, which can result in a false negative result if their reproductive tissue has a different genetic make-up from the tissue sampled for the test.[4]

The DNA test is performed by collecting buccal (cheek) cells found on the inside of a person's cheek using a buccal or cheek swab. These swabs have wooden or plastic stick handles with a cotton on synthetic tip. The collector rubs the inside of a person's cheek to collect as many buccal cells as possible, which are then sent to a laboratory for testing. Samples from the alleged father or mother and the child would be needed.

It is possible to determine who the biological father of the fetus is while the woman is still pregnant through procedures called chorionic villus sampling or amniocentesis. Chorionic villus sampling retrieves placental tissue in either a transcervical or transabdominal manner. Amniocentesis retrieves amniotic fluid by inserting a needle through the pregnant mother's abdominal wall. These procedures are highly accurate because they are taking a sample directly from the fetus; however, there is a small risk for the woman to miscarry and lose the pregnancy as a result. Both CVS and Amnio require the pregnant woman to visit a genetic specialist known as a maternal fetal medicine specialist who will perform the procedure.

Advances in genetic testing have led to the ability to identify the biological father while the woman is still pregnant. There is a small amount of fetal DNA (cffDNA) present in the mother's blood during pregnancy. This allows for accurate fetal DNA paternity testing during pregnancy from a blood draw with no risk of miscarriage. Studies have shown that cffDNA can first be observed as early as 7 weeks gestation, and the amount of cffDNA increases as the pregnancy progresses.[5][6]

The DNA of an individual is the same in every somatic (nonreproductive) cell. Sexual reproduction brings the DNA of both parents together to create a unique combination of genetic material in a new cell, so the genetic material of an individual is derived from the genetic material of each parent in equal amounts; this genetic material is known as the nuclear genome of the individual, because it is found in the nucleus.

Comparing the DNA sequence of one person to that of another can prove if one of them was derived from the other, but DNA paternity tests are not currently 100% accurate. Specific sequences are examined to see if they were copied verbatim from one individual's genome; if so, then the genetic material of one individual could have been derived from that of the other (i.e. one is the parent of the other). Besides nuclear DNA, mitochondria also have their own genetic material called mitochondrial DNA. Mitochondrial DNA comes only from the mother, without any shuffling.

Proving a relationship based on comparison of the mitochondrial genome is much easier than that based on the nuclear genome. However, testing the mitochondrial genome can prove only if two individuals are related by common descent through maternal lines only from a common ancestor and is, thus, of limited value (i.e., it could not be used to test for paternity).

In testing the paternity of a male child, comparison of the Y chromosome can be used, since it is passed directly from father to son.

In the US, the AABB has regulations for DNA paternity and family relationship testing, but AABB accreditation is not required. DNA test results are legally admissible if the collection and the processing follows a chain of custody. Similarly in Canada, the SCC has regulations on DNA paternity and relationship testing, but this accreditation, while recommended, is not required.

The Paternity Testing Commission of the International Society for Forensic Genetics has taken up the task of establishing the biostatistical recommendations in accordance with the ISO/IEC 17025 standards.[7] Bio-statistical evaluations of paternity should be based on a likelihood ratio principle - yielding the Paternity Index, PI. The recommendations provide guidance on concepts of genetic hypotheses and calculation concerns needed to produce valid PIs, as well as on specific issues related to population genetics.

The first form of any kind of parental testing was blood typing, or matching blood types between the child and alleged parent, which became available in the 1920s, after scientists recognized that blood types, which had been discovered in the early 1900s, were genetically inherited. Under this form of testing, the blood types of the child and parents are compared, and it can be determined whether there is any possibility of a parental link. For example, two O blood type parents can produce a child only with an O blood type, and two parents with a B blood type can produce a child with either a B or an O blood type. This often led to inconclusive results, as 30% of the entire population can be excluded from being the possible parent under this form of testing.[8] In the 1930s, serological testing, which tests certain proteins in the blood, became available, with a 40% exclusion rate.[9]

In the 1960s, highly accurate genetic paternity testing became a possibility when HLA typing was developed, which compares the genetic fingerprints on white blood cells between the child and alleged parent.[10] HLA tests could be done with 80% accuracy but could not distinguish between close relatives.[11] Genetic parental testing technology advanced further with the isolation of the first restriction enzyme in 1970. Highly accurate DNA parental testing became available in the 1980s with the development of RFLP. In the 1990s, PCR became the standard method for DNA parental testing: a simpler, faster, and more accurate method of testing than RFLP, it has an exclusion rate of 99.99% or higher.[11]

The DNA parentage test that follows strict chain of custody can generate legally admissible results that are used for child support, inheritance, social welfare benefits, immigration, or adoption purposes. To satisfy the chain-of-custody legal requirements, all tested parties have to be properly identified and their specimens collected by a third-party professional who is not related to any of the tested parties and has no interest in the outcome of the test.

The quantum of evidence needed is clear and convincing evidence: that is, more evidence than an ordinary case in civil litigation, but less than beyond a reasonable doubt required to convict a defendant in a criminal case.

In recent years, immigration authorities in various countries, such as the United States, United Kingdom, Canada, Australia, France, and others, may accept DNA parentage test results from immigration petitioners and beneficiaries in a family-based immigration case when primary documents that prove biological relationship are missing or inadequate.

In the U.S., immigration applicants bear the responsibility of arranging and paying for DNA testing. The U.S. immigration authorities require that the DNA test, if pursued, be performed by one of the laboratories accredited by the AABB (formerly American Association of Blood Banks). Similarly, in Canada, the laboratory needs to be accredited by the Standards Council of Canada.

Although paternity tests are more common than maternity tests, there may be circumstances in which the biological mother of the child is unclear: examples include cases of an adopted child attempting to reunify with his or her biological mother, potential hospital mix-ups, and in vitro fertilization where the laboratory may have implanted an unrelated embryo inside the mother.

Other factors, such as new laws regarding reproductive technologies using donated eggs and sperm and surrogate mothers, can also mean that the female giving birth is not necessarily the legal mother of the child. For example, in Canada, the federal Human Assisted Reproduction Act provides for the use of hired surrogate mothers. The legal mother of the child may be the egg donor. Similar laws are in place in the United Kingdom and Australia.

In Brazil in 2019, two male identical twins were ordered to both pay maintenance for a child fathered by one of them, because the father could not be identified with DNA.[12]

Peace-of-mind parentage tests are widely available on the internet. For a parentage test (paternity or maternity) to be admissible for legal purposes, such as for changing a birth certificate, Family Law Court proceedings, visa/citizenship applications or child support claims, the process must comply with the Family Law Regulations 1984 (Cth).[13] Further, the laboratory processing the samples must be accredited by the National Association of Testing Authorities (NATA).[14]

Personal paternity-testing kits are available. The Standards Council of Canada regulates paternity testing in Canada whereby laboratories are ISO 17025-approved. In Canada, only a handful of labs have this approval, and it is recommended that testing is performed in these labs. Courts also have the power to order paternity tests during divorce cases.[15]

In China, paternity testing is legally available to fathers who suspect their child is not theirs. Chinese law also requires a paternity test for any child born outside the one-child policy for the child to be eligible for a hukou, or family registration record. Family tie formed by adoption can also only be confirmed by a paternity test. A large number of Chinese citizens seek paternity testing each year, and this has given rise to many unlicensed illegal testing centers being set up.[16]

DNA paternity testing is solely performed on decision of a judge in case of a judiciary procedure in order either to establish or contest paternity or to obtain or deny child support.[17] Private DNA paternity testing is illegal, including through laboratories in other countries, and is punishable by up to a year in prison and a 15,000 fine.[18] The French Council of State has described the law's purpose as upholding the "French regime of filiation" and preserving "the peace of families."[19]

Under the Gene Diagnostics Act of 2009, secret paternity testing is illegal. Any paternity testing must be conducted by a licensed physician or by an expert with a university degree in science and special education in parentage testing, and the laboratory carrying out genetic testing must be accredited according to ISO/IEC 17025. Full informed consent of both parents is required, and prenatal paternity testing is prohibited, with the exception of sexual abuse and rape cases. Any genetic testing done without the other parent's consent is punishable with a 5,000 fine.[20] Due to an amendment of the civil law section 1598a in 2005, any man who contests paternity no longer automatically severs legal rights and obligations to the child.[21][22]

A paternity test with any legal standing must be ordered by a family court. Though parents have access to "peace of mind" parental tests through overseas laboratories, family courts are under no obligation to accept them as evidence. It is also illegal to take genetic material for a parental test from a minor over 16 years of age without the minor's consent. Family courts have the power to order paternity tests against the will of the father in divorce and child support cases, as well as in other cases such as determining heirs and settling the question involving the population registry. A man seeking to prove that he is not the father of the child registered as his is entitled to a paternity test, even if the mother and natural guardian object. Paternity tests are not ordered when it is believed it could lead to the murder of the mother, and until 2007, were not ordered when there was a chance that the child could have been conceived outside of marriage, making them a mamzer under Jewish law.[23][24][25]

DNA paternity testing for personal knowledge is legal, and home test kits are available by mail from representatives of AABB- and ISO 17025-certified laboratories.[26] DNA Paternity Testing for official purposes, such as sustento (child support) and inheritance disputes, must follow the Rule on DNA Evidence A.M. No. 06-11-5-SC, which was promulgated by the Philippine Supreme Court on October 15, 2007.[27] Tests are sometimes ordered by courts when proof of paternity is required.

In Spain, peace-of-mind paternity tests are a "big business," partly due to the French ban on paternity testing, with many genetic testing companies being based in Spain.[28][29]

In the United Kingdom, there were no restrictions on paternity tests until the Human Tissue Act 2004 came into force in September 2006. Section 45 states that it is an offence to possess without appropriate consent any human bodily material with the intent of analysing its DNA. Legally declared fathers have access to paternity-testing services under the new regulations, provided the putative parental DNA being tested is their own. Tests are sometimes ordered by courts when proof of paternity is required. In the UK, the Ministry of Justice accredits bodies that can conduct this testing. The Department of Health produced a voluntary code of practice on genetic paternity testing in 2001. This document is currently under review, and responsibility for it has been transferred to the Human Tissue Authority.In the 2018 case of Anderson V Spencer the Court of Appeal permitted for the very first time DNA samples taken from a Deceased person to be used for paternity testing.

In the United States, paternity testing is fully legal, and fathers may test their children without the consent or knowledge of the mother. Paternity testing take-home kits are readily available for purchase, though their results are not admissible in court and are for personal knowledge only.

Only a court-ordered paternity test may be used as evidence in court proceedings. If parental testing is being submitted for legal purposes, including immigration, testing must be ordered through a lab that has AABB accreditation for relationship DNA testing.[30]

The legal implications of a parentage result test vary by state and according to whether the putative parents are unmarried or married. If a parentage test does not meet forensic standards for the state in question, a court-ordered test may be required for the results of the test to be admissible for legal purposes. For unmarried parents, if a parent is currently receiving child support or custody, but DNA testing later proves that the man is not the father, support automatically stops. However, in many states, this testing must be performed during a narrow window of time, if a voluntary acknowledgement of parentage form has already been signed by the putative father; otherwise, the results of the test may be disregarded by law, and in many cases, a man may be required to pay child support, though the child is biologically unrelated. In a few states, if the mother is receiving the support, then that alleged father has the right to file a lawsuit to get back any money that he lost from paying support. As of 2011, in most states, unwed parents confronted with a voluntary acknowledgement of parentage form are informed of the possibility and right to request a DNA paternity test. If testing is refused by the mother, the father may not be required to sign the birth certificate or the voluntary acknowledgement of parentage form for the child. For wedded putative parents, the husband of the mother is presumed to be the father of the child. But, in most states, this presumption can be overturned by the application of a forensic paternity test; in many states, the time for overturning this presumption may be limited to the first few years of the child's life.

Reverse paternity determination is the ability to establish the biological father when the father of that person is not available. The test uses the STR alleles in the mother and her child, other children and brothers of the alleged father, and deduction of genetic constitution of the father by the basis of genetic laws, all to create a rough amalgamation. This can compare the father's DNA when a direct sample of the father's DNA is unavailable. An episode of Solved shows this test being used to know if a blood sample matches with the victim of a kidnapping.

Genetic:

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DNA paternity testing - Wikipedia

BOSTON--(BUSINESS WIRE)--Outcomes4Me Inc., developer of a leading free mobile app and platform to navigate cancer treatment and care, today announced that it has partnered with Invitae Corporation (NYSE: NVTA), a leading medical genetics company, to expand education and access to genetic testing to breast cancer patients and survivors. The collaboration leverages the strengths of Invitae, which supplies clinical grade genetic testing, and Outcomes4Mes 360-degree, validated and evidence-based cancer support and treatment options via its free and easy-to-use app. Initially and currently available in the United States, patients can now receive genetic counseling through Invitaes partnership with Genome Medical, get testing, and upload their results within the Outcomes4Me app.

There is a misconception that genetic testing is only useful as a preventative tool prior to a cancer diagnosis. According to Outcomes4Me patient data, almost half of users (46 percent) who qualified for testing (based on NCCN Guidelines) did not receive testing or did not know if they had received testing. However, genetic testing can provide insights that can help inform and refine precision therapy use and clinical treatment trial enrollment. In addition, genetic testing results can be used to help prevent recurrence and reduce incidence of other inherited cancers.

A cancer diagnosis is often overwhelming for patients and their families. Outcomes4Me demystifies cancer by providing the most up-to-date and validated research, support, and treatment options, all grounded in science and data and curated according to the patients specific diagnosis. Outcomes4Me partners with the researchers, doctors, and academics that set the rigorous standards of cancer care for all treatment providers, including the National Comprehensive Care Network (NCCN), Vanderbilt-Ingram Cancer Center (VICC) and Massachusetts General Hospital (MGH). The collaboration with Invitae expands access to genetic testing, a vitally important tool in the patients cancer care arsenal.

Outcomes4Me is an indispensable platform for patients with breast cancer, giving them the personalized knowledge and access to timely new trials and targeted therapies that could lead to better health outcomes, said Ed Esplin, M.D., Ph.D., FACMG, FACP, Clinical Geneticist at Invitae. By providing access to our comprehensive genetic testing and counseling services, Outcomes4Me is adding a valuable resource that will empower patients to advance their knowledge, understanding, and therefore, self-advocacy during treatment and survivorship.

Unlike popular direct-to-consumer genetic testing services, which test for a few specific genetic variants for certain genes, Invitae provides state-of-the-art clinical grade next-generation sequencing-based (NGS) genetic testing that comprehensively analyses more than 80 genes, including all known mutations of the important BRCA1/BRCA2 genes. This comprehensive approach, combined with associated genetic counseling, not only provides insights for cancer patients, but also for family members who may be at risk.

Our collaboration with Invitae reinforces Outcomes4Mes mission to give patients back control, said Maya R. Said, Sc. D., Founder and CEO of Outcomes4Me. Because of this work with Invitae, our valued community now has rare direct access to a much-needed testing service. Outcomes4Me will proudly continue to democratize the best in cancer treatment, research, and support by removing barriers and bias in information flow.

The Outcomes4Me app is available free to users on both the App Store and Google Play.

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 http://www.invitae.com.

About Outcomes4Me

Outcomes4Me is on a mission to improve health outcomes by empowering patients with understandable, relevant and evidence-based information. Outcomes4Me has developed a platform for shared decision-making between patients and providers. The platform harnesses regulatory-grade, real-world data and patient experiences generating deeper insights and better outcomes to improve care and accelerate research. The Outcomes4Me mobile app enables cancer patients to make decisions and take control of their care based on information that is personalized to their specific condition, including finding treatment options, matching to clinical trials, and tracking and managing symptoms. Based in Boston, Massachusetts, Outcomes4Me, a woman-led company, comprises seasoned healthcare, oncology, pharmaceutical, consumer and technology veterans. For more information, visit http://www.outcomes4me.com.

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Outcomes4Me Partners with Invitae to Offer Genetic Testing to Breast Cancer Patients - Business Wire

NEW YORK The Centers for Disease Control and Prevention said on Monday that its Genetic Testing Reference Materials Program (GeT-RM) has partnered with the Clinical Genome Resource (ClinGen) to develop a publicly available list of 546 curated clinically important variants in 84 genes for use in next-generation sequencing genetic testing.

By defining variants that are either major contributors to disease or difficult to detect, the list will serve as a resource for the design of comprehensive analytical validation studies, as well as the creation of computer-modulated or simulated reference materials for clinical genomic test development, the partners said.

Genetic testing has grown from the analysis of small sets of known pathogenetic variants in one or a few genes to the analysis of hundreds or thousands of genes simultaneously using NGS, they added. But it's difficult, or even impossible, to obtain DNA reference materials containing the full scope of variants and variant types needed to perform a comprehensive validation study. It can also be challenging for laboratories to maintain the expert knowledge to identify variants that are appropriately representative of the spectrum of disease for inclusion in validation studies.

The new variant list, they said, will help address these complexities.

The CDC and ClinGen first proposed the curated list in a paper published in August in the Journal of Molecular Diagnostics. The variant types include 346 SNVs, 104 deletions, 37 copy number variants, 25 duplications, 18 deletion-insertions, five inversions, four insertions, two complex rearrangements, three difficult-to-sequence regions, and two fusions. They were nominated for a variety of reasons, including being major contributors to disease, analytically difficult to detect, or inadvertently filtered out due to high allele frequency.

The authors also noted that the list of 84 genes include 29 of the 73 genes recommended by the American College of Medical Genetics and Genomics for reporting of incidental or secondary findings.

The ClinGen Allele Registry was used to standardize nomenclature for all nominated variants, and ClinVar Variation IDs and associated disorders were added where available. The Food and Drug Administration has also recognized ClinGen's curation process and its resulting classifications as a regulatory-grade variant database, and the curated variants are available via the National Center for Biotechnology Information's ClinVar database and ClinGen's Evidence Repository.

"This important novel approach will remove a critical bottleneck for test developers and may help harmonize test development and validation across laboratories," co-lead investigator Birgit Funke, VP of genomic health at Sema4, said in a statement.

Co-lead investigator and GeT-RM Director Lisa Kalman also noted that the partners have started a pilot project to demonstrate how the curated variants "could be used to create reference materials by in silico mutagenesis of NGS sequencing files. The pilot will examine whether the added variants can be detected by the clinical laboratories that generated the NGS files and demonstrate a general process that labs can use to develop electronic reference materials to fit their own needs."

GeT-RM and ClinGen will continue to add to the current variant list as needed, and are inviting input from the genetics community about the list and the processes used to generate it.

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CDC, ClinGen Partner to Develop Curated List of Important Variants for Use in NGS Genetic Testing - GenomeWeb

DALLAS--(BUSINESS WIRE)--Taysha Gene Therapies, Inc. (Nasdaq: TSHA), a patient-centric, pivotal-stage gene therapy company focused on developing and commercializing AAV-based gene therapies for the treatment of monogenic diseases of the central nervous system (CNS) in both rare and large patient populations, today announced sponsored genetic testing for giant axonal neuropathy (GAN) in partnership with GeneDx, Inc., a leader in genomic analysis and a wholly owned subsidiary of BioReference Laboratories, Inc., an OPKO Health company (NASDAQ:OPK). Under the partnership, Taysha will sponsor the inclusion of a genetic marker to test for GAN in the GeneDx hereditary neuropathy panel free of charge to individuals at risk for or suspected of having GAN.

GAN is a progressive neurodegenerative disease that affects both the central and peripheral nervous systems leading to motor weakness, sensory impairment, and cognitive dysfunction. Currently, there are no approved treatments for GAN, which results in death for patients often in their late teens or early twenties. Although no symptoms are present in the first few months of life, many children with early onset GAN develop symptoms and features before the age of three. A more recently identified later onset phenotype of GAN is often mischaracterized as Charcot-Marie-Tooth. The estimated prevalence for GAN is 2,400 patients, but the GAN population is anticipated to be larger than previously appreciated.

In the natural history study, Motor Function Measure 32 (MFM32), a validated and well-known scale to measure strength and motor function, is the primary endpoint. A four-point change on the MFM32 score is considered clinically meaningful, which has been validated across numerous similar neuropathies. Natural history decline in patients with GAN is eight points per year. Treatment with TSHA-120, Tayshas intrathecally dosed AAV9 gene therapy currently being evaluated in a Phase 1/2 clinical trial led by Carsten Bnnemann, M.D., Chief of the Neuromuscular and Neurogenetic Disorders of Childhood Section and Senior Investigator, Neurogenetics Branch of the National Institute of Neurological Disorders and Stroke (NINDS), U.S. National Institutes of Health (NIH). Data demonstrate a statistically significant halt in decline as measured by the MFM32 at therapeutic doses. All GAN natural history data was generated and supported by the NINDS, NIH under umbrella protocol NCT01568658.

Rare diseases like GAN are often mischaracterized, particularly when there are overlapping symptoms with other diseases with higher awareness, said Suyash Prasad, MBBS, M.Sc., MRCP, MRCPCH, FFPM, Chief Medical Officer and Head of Research and Development of Taysha. Early diagnosis can dramatically improve the lives of patients and we are very excited to work with GeneDx, a global leader in genetic testing, to have GAN included in its routine hereditary neuropathy screening panel. Ultimately, this can help address current treatment barriers by raising disease awareness, making diagnostic tools more accessible and facilitating earlier intervention for patients suffering from GAN. We are also excited to collaborate with the Hereditary Neuropathy Foundation and the Charcot-Marie-Tooth Association Centers of Excellence, healthcare professionals, and patient advocacy groups to increase access to genetic testing. In the meantime, we look forward to reporting Phase 1/2 clinical data for TSHA-120 from the high dose cohort in the second half of this year. We have submitted a request for scientific advice from a regulatory agency and look forward to next steps.

Paul Kruszka, M.D., F.A.C.M.G., chief medical officer of GeneDx added, Earlier access to genetic testing can take years off the diagnostic journey for patients facing rare diseases like GAN. By ensuring patients and clinicians no longer have to rely on solely clinical criteria and symptom presentation to get to an accurate diagnosis, we can help clinicians turn their attention to effective treatment plans earlier in the course of the disease. We look forward to partnering with Taysha on this important effort to improve diagnosis of neurodegenerative diseases like GAN.

Taysha will sponsor the new initiative which will make genetic testing available free of charge to individuals at risk for or suspected of having GAN. The initiative is designed to increase access to genetic testing for patients. GeneDx will provide analysis of genes on the Hereditary Neuropathy Panel by next-generation sequencing with deletion/duplication detection.

As the later onset phenotype of GAN is sometimes miscategorized as Charcot-Marie-Tooth or Charcot-Marie-Tooth Type 2, Taysha plans to collaborate with the Hereditary Neuropathy Foundation (HNF) and the Charcot-Marie Tooth Association (CMTA) by engaging their Centers of Excellence to administer genetic tests to appropriate patients and by creating awareness among patients and families about this new initiative.

Allison Moore, Founder and Chief Executive Officer (CEO) of the HNF said, We believe all patients at risk for or suspected to have GAN should have access to receive genetic testing in order to confirm a potential GAN diagnosis and to be made aware of opportunities to participate in clinical trials for investigational treatments. This initiative aligns with HNFs mission to accelerate and help facilitate an accurate diagnosis for patients and families worldwide.

Through this initiative, patients will have access to no-charge genetic testing, eliminating one of the biggest barriers, said Amy Gray, CEO of the CMTA. The CMTAs support of this initiative is part of our broader commitment to accelerate research and empower patients and families living with GAN and other forms of CMT, including the most vulnerable, by giving them access to resources that may help improve outcomes and quality of life.

All testing will be ordered through a clinician. Sponsored testing programs have previously been shown to increase access to genetic testing, confirm diagnosis and enable participation in clinical trials for patients.

About Taysha Gene Therapies

Taysha Gene Therapies (Nasdaq: TSHA) is on a mission to eradicate monogenic CNS disease. With a singular focus on developing curative medicines, we aim to rapidly translate our treatments from bench to bedside. We have combined our teams proven experience in gene therapy drug development and commercialization with the world-class UT Southwestern Gene Therapy Program to build an extensive, AAV gene therapy pipeline focused on both rare and large-market indications. Together, we leverage our fully integrated platforman engine for potential new cureswith a goal of dramatically improving patients lives. More information is available at http://www.tayshagtx.com.

About GeneDx, Inc.

GeneDx, Inc. is a global leader in genomics, providing testing to patients and their families worldwide. Originally founded by scientists from the National Institutes of Health, GeneDx offers a world-renowned clinical genomics program with particular expertise in rare and ultra-rare genetic disorders. In addition to its market-leading exome sequencing service, GeneDx offers a suite of additional genetic testing services, including diagnostic testing for hereditary cancers, cardiac, mitochondrial, neurological disorders, prenatal diagnostics, and targeted variant testing. GeneDx is a subsidiary of BioReference Laboratories, Inc., a wholly owned subsidiary of OPKO Health, Inc. To learn more, please visit http://www.genedx.com.

About OPKO Health

OPKO Health, Inc. (NASDAQ:OPK) is a multinational biopharmaceutical and diagnostics company that seeks to establish industry-leading positions in large, rapidly growing markets by leveraging its discovery, development, and commercialization expertise and novel and proprietary technologies. For more information, visit http://www.opko.com.

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as anticipates, believes, expects, intends, projects, and future or similar expressions are intended to identify forward-looking statements. Forward-looking statements include statements concerning the potential of our product candidates, including TSHA-120, to positively impact quality of life and alter the course of disease in the patients we seek to treat, our research, development and regulatory plans for our product candidates, TSHA-120s eligibility for accelerated approval in the United States and Europe, the potential for these product candidates to receive regulatory approval from the FDA or equivalent foreign regulatory agencies, and whether, if approved, these product candidates will be successfully distributed and marketed, and the potential market opportunity for these product candidates. Forward-looking statements also include statements as to the accuracy of GeneDx testing and the impact of testing on treatment paths and outcomes. Forward-looking statements are based on current expectations and are subject to various risks and uncertainties that could cause actual results to differ materially and adversely from those expressed or implied by such forward-looking statements. Accordingly, these forward-looking statements do not constitute guarantees of future performance, and you are cautioned not to place undue reliance on these forward-looking statements. Risks regarding our business are described in detail in our Securities and Exchange Commission (SEC) filings, including in the respective Annual Report on Form 10-K for the full-year ended December 31, 2020, and our Quarterly Reports on Form 10-Q for us and OPKO, all of which are available on the SECs website at http://www.sec.gov. Additional information will be made available in other filings that we make from time to time with the SEC. Such risks may be amplified by the impacts of the COVID-19 pandemic. These forward-looking statements speak only as of the date hereof, and we and OPKO disclaim any obligation to update these statements except as may be required by law.

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Taysha Gene Therapies Announces Sponsored Genetic Testing for Giant Axonal Neuropathy (GAN) in Partnership with GeneDx as well as a Collaboration with...

The Krystal Decode DEB program is designed to shorten time to accurate diagnosis and facilitate the delivery of optimal care

PITTSBURGH and GAITHERSBURG, Md., Oct. 12, 2021 (GLOBE NEWSWIRE) -- Krystal Biotech, Inc., (Krystal) (NASDAQ: KRYS), the leader in redosable gene therapies for rare diseases, and GeneDx, Inc., a leader in genomic analysis and a wholly-owned subsidiary of BioReference Laboratories, Inc., an OPKO Health company (NASDAQ:OPK), today announced a collaboration offering no-charge genetic testing for all types of Epidermolysis Bullosa (EB). The goal of the program, called Krystal Decode DEB, is to help patients with the dystrophic form of this genetic condition, also known as DEB, get a definitive diagnosis sooner, with highly accurate results obtained with a blood or cheek swab sample.

"In the US, EB is too often diagnosed by clinical features alone without molecular confirmation. Since clinical features in different EB subtypes and other blistering disorders can show many similarities, a diagnosis based solely on clinical features can be inaccurate or delayed, which ultimately hurts the patients by preventing them from receiving proper care. The Krystal Decode DEB program will help accelerate and/or confirm an accurate diagnosis of DEB and empower health care providers, patients and families to make informed health decisions to facilitate optimal care delivery, said Dr. Peter Marinkovich, M.D., Blistering Disease Clinic Director and Associate Professor of Dermatology at Stanford University, and Primary Investigator for Krystals ongoing Phase 3 trial.

EB is a rare genetic connective tissue disorder that causes extremely fragile skin that blisters and tears from minor friction or trauma. There are 4 types of EB, each caused by mutations in different genes. Accurately diagnosing dystrophic EB (caused by mutations in the COL7A1 gene) is critical due to the higher risk of squamous cell cancer, internal complications and mortality.

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Epidermolysis Bullosa is a group of disorders with varied presentations, prognoses and long-term sequelae resulting from distinct gene mutations. However, many suspected EB patients do not receive diagnostic testing due to lack of insurance coverage, cost of assessment and unfamiliarity with the impact of genetic information on health care delivery, said Dr. Jeanett Segal M.D., United States Medical Director of Krystal Biotech, Inc. Fortunately, genetic tests are available and we are thrilled to work with GeneDx to offer this at no-charge to patients with EB symptoms.

The Krystal Decode DEB program utilizes a comprehensive panel of genes to identify DEB or other genetic conditions with similar phenotype to DEB, including other EB types and some other non EB skin blistering conditions, to aid in diagnosis.

Diagnosis of rare diseases like DEB can take years. Access to genetic testing as early as possible is essential to ensure people suspected of having DEB receive an accurate diagnosis and optimal treatment as soon as possible, said Dr. Paul Kruszka, M.D., F.A.C.M.G., Chief Medical Officer of GeneDx. Were pleased to be working with Krystal Biotech to make it easier for patients suspected of having DEB to receive genetic testing.

The Krystal Decode DEB program is open to all US residents, including residents of Puerto Rico, who have clinical symptoms consistent with EB and have not previously received genetic testing. More information on the Decode DEB program can be obtained by emailing krystal@genedx.com or calling 1-888-729-1206. Krystal reserves the right to amend, suspend or terminate this program without notice.

About Dystrophic EBDEB is a rare and severe monogenic disease that affects the skin and mucosal tissues. It is caused by one or more mutations in a gene called COL7A1, which is responsible for the formation of the protein type VII collagen protein (COL7) that forms anchoring fibrils that bind the dermis (inner layer of the skin) to the epidermis (outer layer of the skin). The lack of functional anchoring fibrils leads to extremely fragile skin that blisters and tears from minor friction or trauma. DEB patients suffer from open wounds, which leads to skin infections, fibrosis which can cause fusion of fingers and toes, and ultimately a significantly increased risk of developing squamous cell carcinoma of the skin, which is often fatal.

About Krystal BiotechKrystal Biotech, Inc. (NASDAQ:KRYS) is a pivotal-stage gene therapy company leveraging its novel, redosable gene therapy platform and in-house manufacturing capabilities to develop therapies to treat serious rare diseases. For more information, please visit http://www.krystalbio.com.

About GeneDxGeneDx, Inc. is a global leader in genomics, providing testing to patients and their families worldwide. Originally founded by scientists from the National Institutes of Health, GeneDx offers a world-renowned clinical genomics program with particular expertise in rare and ultra-rare genetic disorders. In addition to its market-leading exome sequencing service, GeneDx offers a suite of additional genetic testing services, including diagnostic testing for hereditary cancers, cardiac, mitochondrial, neurological disorders, prenatal diagnostics, and targeted variant testing. GeneDx is a subsidiary of BioReference Laboratories, Inc., a wholly-owned subsidiary of OPKO Health, Inc. To learn more, please visit http://www.genedx.com.

About OPKO HealthOPKO is a multinational biopharmaceutical and diagnostics company that seeks to establish industry-leading positions in large, rapidly growing markets by leveraging its discovery, development, and commercialization expertise and novel and proprietary technologies. For more information, visit http://www.opko.com.

Forward-Looking StatementsThis press release contains forward-looking statements, including with respect to the Krystal Decode DEB program, such as its ability to help accelerate and/or confirm an accurate diagnosis of DEB and empower health care providers, patients and families to make informed health decisions to facilitate optimal care delivery. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors as are set forth under the caption Risk Factors in Krystals annual and quarterly reports on file with the U.S. Securities and Exchange Commission. Krystal undertakes no duty or obligation to update any forward-looking statements contained herein as a result of new information, future events or changes in its expectations or circumstances.

CONTACTS:

Investors:

Media:

Whitney Ijem

Mary Coyle

Krystal Biotech

TellMed Strategies

wijem@krystalbio.com

mary.coyle@tmstrat.com

Source: Krystal Biotech, Inc.

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Krystal Biotech and GeneDx Announce Collaboration to Provide No-charge Genetic Testing for Patients with Suspected Dystrophic Epidermolysis Bullosa...

California Governor Newsom signed the Genetic Information Privacy Act (GIPA) into law on October 6, 2021. GIPA requires direct-to-consumer genetic testing companies to comply with certain privacy and data security requirements such as requiring consumers' affirmative consent regarding the collection, use, maintenance, and disclosure of genetic data, and enabling consumers to access and destroy their genetic data.

GIPA applies to companies that:

Licensed medical providers who are actively diagnosing or treating a patient's medical condition.

GIPA covers "genetic data," which is defined as any data, regardless of the format, that results from analysis of a biological sample from a consumer or from another element enabling equivalent information to be obtained, and concerns genetic material. Genetic material includes, but is not limited to, DNA, RNA, genes, chromosomes, alleles, genomes, alterations or modifications to DNA or RNA, SNPs, uninterpreted data that results from analysis of the biological sample, and any information extrapolated, derived, or inferred from materials in this list.

Genetic data does not include de-identified data, or a biological sample to the extent that data or a biological sample is collected, used, maintained, and disclosed exclusively for scientific research under very particular circumstances described in the law.

GIPA creates safeguards for privacy, security, and confidentiality for consumers of direct-to-consumer genetic testing. It ensures that consumers receive the required notice and have the ability to revoke consent for the use, collection, or disclosure of the consumer's genetic data.

Under GIPA, companies must do the following, among other requirements identified within the statute:

Consumers who have suffered injury in fact and lost money or property as a result of the violation of GIPA will have a private right of action. The California Attorney General and local government counsel will also prosecute GIPA through civil penalties.

GIPA will go into effect on January 1, 2022.

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Privacy Law Essentials: California's Genetic Information Privacy Act | Hinshaw Privacy & Cyber Bytes - Insights on Compliance, Best Practices, and...

Preimplantation genetic testing (PGT) of embryos during in vitro fertilization (IVF) enlightens patients of possible gene mutations prior to implantation. SGF's in-house team of researchers continues to explore PGT as a counseling tool to optimize care for generations to come.

WASHINGTON, Oct. 14, 2021 /PRNewswire-PRWeb/ -- National Breast Cancer Awareness Month reminds us that an estimated 700,000 people in the U.S. will be diagnosed with breast cancer this year alone, of which, up to 10 percent of cases are linked to an inherited gene mutation. Individuals and couples with known genetic diseases can turn to Shady Grove Fertility (SGF) to undergo in vitro fertilization (IVF) with preimplantation genetic testing for monogenic/single gene defects (PGT-M) to reduce the risk of passing genetic mutations to future offspring.

SGF can screen for over 280 recessive gene mutations, including diseases such as cystic fibrosis, Tay-Sachs disease, and spinal muscular atrophy. Additionally, patients at risk for dominant gene mutations, such as breast cancer or inherited forms of colon cancer, can have individualized testing for these diseases.

In 2019, SGF formed a partnership with breast cancer advocate and Previvor Founder, Allyn Rose, to educate patients of these interventions and the availability of fertility preservation prior to any cancer treatment.

"In the last letter that my mother wrote to me before her passing from metastatic breast cancer at age 50, she warned me of my family's predisposition to cancer and rare diseases, encouraging me to undergo in vitro fertilization (IVF) treatment to eliminate this disease," says Rose, a former Miss USA and Miss America contestant, model, and the recipient of the 21st Annual Congress on Women's Health's Advocacy Award and a Breast Cancer Summit Lifetime Achievement Award.

While Rose is not a carrier for the breast cancer gene, she is a carrier of a rare X-linked genetic mutation called Wiskott-Aldrich syndrome. Because of this genetic mutation, there would be a 50 percent chance that her future children would also become carriers of the disease. In October 2019, Rose started her IVF journey with Kate Devine, M.D., at SGF's K Street location in Washington, D.C., opting to undergo PGT-M to reduce the risk of having a child with an inherited condition. After 10 months of IVF treatment with SGF, Rose announced that she was pregnant in July 2020.

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Nearly two years after beginning their journey with SGF, Rose and her husband Christopher announced the birth of their daughter, Yve, on April 9, 2021.

"It was an incredibly fulfilling experience welcoming my daughter into the world because it felt as if my journey had come full circle," shares Rose. "For the last 10 years, I've worked as an advocate in the breast cancer community. I've spent years speaking on the importance of long-term perspective and highlighting my choice to undergo a preventive mastectomy in order to prolong my life and to conceive via IVF removing my rare genetic disease from my family tree. Now, I can hold my daughter in my arms and see that it was all worth it. Everything that I've worked towards has finally come to fruition."

"Allyn's story is a beacon of hope for women with increased cancer risk and other genetic risk factors," says Dr. Devine. "IVF with PGT-M is a safe and reliable means of fertility treatment for people who want to reduce risk of known genetic mutations in their children. I'm so happy that Allyn underwent treatment to reduce her own familial breast cancer risk and that she and that her baby girl is free of Wiskott-Aldrich gene mutations."

While Rose was proactive with preventive family-building measures, more awareness and education is needed on the topic. SGF is slated to present research findings on genetic testing in the infertility population for those at increased risk at the 2021 ASRM Scientific Congress and Expo, taking place in Baltimore from October 1721.

The study, which was honored with the ASRM 2021 Corporate Member Council In-Training Award, concludes that an overwhelming majority of eligible fertility patients are declining cancer genetic testing despite receiving focused genetic counseling regarding the recommendation to pursue testing as well as the opportunity to potentially minimize the cancer risk of future offspring.

"Prior to initiating fertility treatment, all patients who participated in the study received focused genetic counseling informing them that if one parent has a hereditary cancer-predisposing mutation, there is a 50% risk that any child will have it too," explains Dr. Devine, who also serves as SGF's Director of Research. "We will continue to research the underlying 'why' behind these decisions to evolve future care models that offer the safest and healthiest outcomes for our patients."

"Making the decision to pursue IVF with PGT is a very personal one," adds Rose. "But I am a strong proponent of pursuing all options available in order to give children the best possible opportunity to thrive in life. We are so fortunate to live in a world where we can now reduce the inheritance of deadly genetic diseases via IVF. It's such an incredible gift and I am fortunate to have had the opportunity to give my children a better outlook than I had."

SGF is also dedicated to helping patients with cancer receive fertility preservation care. SGF has a specially trained team that works specifically with people with cancer to ensure the fertility preservation process before cancer treatment can be expedited in order that cancer treatment can quickly begin. The oncofertility team at SGF helps to guide patients through each step of the treatment process, from finding ways to afford treatment to the actual medical procedure.

If you would like to learn more about SGF's oncofertility treatment options or to schedule an appointment, please call the New Patient Center at 1-888-761-1967 or complete this brief online form.

About Shady Grove Fertility (SGF) SGF is a leading fertility and IVF center of excellence with more than 100,000 babies born. With 43 locations, including new locations in Colorado and Norfolk, VA, as well as throughout CO, FL, GA, MD, NY, PA, VA, D.C., and Santiago, Chile, SGF offers patients virtual physician consults, delivers individualized care, accepts most insurance plans, and makes treatment more affordable through innovative financial options, including 100% refund guarantees. More physicians refer their patients to SGF than any other center. SGF is among the founding partner practices of US Fertility, the largest physician-owned, physician-led partnership of top-tier fertility practices in the U.S. Call 1-888-761-1967 or visit ShadyGroveFertility.com.

Media Contact

Jean Dzierzak, Shady Grove Fertility, 301-545-1375, jean.dzierzak@sgfertility.com

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Advancements in reproductive medicine available at Shady Grove Fertility (SGF) can reduce the inheritance of genetic diseases like breast cancer -...

-- New data in patients with POMC or LEPR deficiency obesity show setmelanotide led to clinically meaningful improvements in health related quality of life measures and hunger -- -- Updated results from Uncovering Rare Obesity testing program suggest up to 64.5 percent of individuals with early-onset, severe obesity may carry variants linked to rare genetic diseases of obesity -- -- Additional posters include encore presentations of data from Phase 3 trial evaluating setmelanotide in BBS and Phase 2 trial in HET obesity, as well as Phase 1b trial evaluating once-weekly setmelanotide --

BOSTON, Oct. 14, 2021 (GLOBE NEWSWIRE) -- Rhythm Pharmaceuticals, Inc. (Nasdaq: RYTM), a commercial-stage biopharmaceutical company committed to transforming the care of people living with rare genetic diseases of obesity, today presented the first-ever data on the health related quality of life (HRQOL) and experience of patients with obesity due to POMC or LEPR deficiency and updated results from the Uncovering Rare Obesity (URO) genetic testing program at the Obesity Medicine Associations Overcoming Obesity 2021 Conference and its Digital Experience (DX) Oct. 14-23.

The Company and its collaborators delivered four poster presentations, including:

New HRQOL data from post-hoc analyses of Phase 3 trials evaluating setmelanotide in patients with POMC or LEPR deficiency obesity that showed setmelanotide treatment led to sustained, clinically meaningful HRQOL improvements in a majority of patients;

New results from a study based on in-depth patient interviews conducted in patients with POMC and LEPR deficiency obesity enrolled in Rhythms pivotal Phase 3 trials, which highlighted that the reduced hunger and improved satiety resulting from setmelanotide treatment substantially and meaningfully changed patients lives; and

Two presentations detailing updated results from Rhythms URO genetic testing of approximately 8,500 people in the United States with early-onset, severe obesity project that:

64.5% of individuals who had genetic sequencing performed may carry variants associated with rare genetic diseases of obesity, including 54.6% with variants in the melanocortin-4 receptor (MC4R) pathway that may qualify them for enrollment in Rhythms EMANATE or DAYBREAK trials or for treatment with IMCIVREE; and

1.96% of individuals who had genetic sequencing performed may carry biallelic variants in one of 22 Bardet-Biedl Syndrome (BBS)-associated genes or the ALMS1 gene, of which up to 0.34% carried variants considered pathogenic or likely pathogenic.

These new data contribute to the growing body of evidence that supports setmelanotides potential to deliver clinically meaningful weight loss and clinically meaningful improvements in patient reported hyperphagia, as well as HRQOL, reinforcing the value of setmelanotides potential for the treatment of rare genetic diseases of obesity of the MC4R pathway, said Linda Shapiro, M.D., Ph.D., Chief Medical Officer of Rhythm. As we prepare to initiate our next wave of clinical trials, we are encouraged by these new results from the URO genetic testing program, which suggest the potential prevalence of genetic variants among people living with early-onset, severe obesity. These results reinforce the importance of genetic testing for clinical decision making in individuals with early-onset, severe obesity and hyperphagia and support our plans to initiate the Phase 3 EMANATE and Phase 2 DAYBREAK trials later this year, which will expand our clinical development of setmelanotide into patients with variants in any of 36 genes that may impair the MC4R pathway.

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New HRQOL Data and Patient-reported Experience of Hunger from Phase 3 Trials in POMC and LEPR Deficiency ObesitiesInvestigators presented two posters with data generated from post-hoc analyses of the Companys Phase 3 trials in POMC and LEPR deficiency obesities.

In a presentation entitled, Quality of Life in POMC or LEPR Deficiency: Setmelanotide Phase 3 Trials, Peter Khnen, M.D., Charit - Universittsmedizin Berlin, Corporate Member of Freie Universitt Berlin und Humboldt-Universitt zu Berlin, Institute for Experimental Pediatric Endocrinology presented data on the HRQOL burden improvements before and after treatment with setmelanotide.1 Highlights include:

Setmelanotide resulted in clinically meaningful improvement in HRQOL in eight of 13 (73%) of patients after 52 weeks of treatment, with improvements in HRQOL that were 2 to 3 times larger than the relevant meaningful threshold; and

Meaningful HRQOL improvements were observed as early as Week 5 on therapy, and these improvements were maintained throughout the study as they mirrored clinically meaningful hunger reductions and weight loss in these patients.

Martin Wabitsch, M.D. Division of Pediatric Endocrinology and Diabetes, Center for Rare Endocrine Diseases, Department of Pediatrics and Adolescent Medicine, University of Ulm, Ulm, Germany, presented qualitative data from a series of patient interviews in a poster entitled, Patient Experience of Hunger in POMC or LEPR Deficiency. Patients reported that hyperphagia and the constant inability to feel satiety negatively affects their HRQOL, while reduced hunger and improved satiety achieved on setmelanotide therapy substantially and meaningfully changed their lives, profoundly improving their ability to function at school or work. Additionally, these patients reported that discontinuing treatment with setmelanotide would be devastating.

The results of these studies underscore the tremendous burden of POMC and LEPR deficiency obesity, better characterizing the experience of people living with these conditions and highlighting the significant impact of severe obesity and insatiable hunger on their daily lives, said Dr. Khnen. Importantly, these data suggest setmelanotide can deliver clinically meaningful HRQOL benefits, reducing the significant burden of disease by providing patients with improvements in their feelings of insatiable hunger, in addition to substantial weight loss. These results further reinforce the value of setmelanotide as the first U.S., EU and UK-approved precision medicine for chronic weight management in POMC and LEPR deficiency obesities.

Updated Data from the URO Testing ProgramIda Moeller, ScD, ScM, MMSc, Director of Biomedical Informatics at Rhythm, presented, Variants in Obesity-related Genes in a Population with Early-onset Obesity. Rhythms URO testing program is designed to expand access to genetic testing for patients with suspected rare genetic diseases of obesity in the U.S. As of July 12, 2021, Rhythm had collected genetic sequences from approximately 8,500 individuals with early-onset, severe obesity, including 788 individuals who had genetic sequencing performed on the Companys updated genetic panel with 79 genes and the full chromosomal region 16p11.2.

Based on an integrated yield weighted by the number of individuals sequenced for each gene, utilizing the data from the two panels (the original panel and the updated expanded panel), Rhythm projects that 64.5% of individuals sequenced may carry actionable variants linked to rare genetic diseases of obesity.2 Rhythm also estimates that 54.6% of individuals sequenced carry variants in the MC4R pathway that may qualify them for enrollment in Rhythms EMANATE or DAYBREAK trials or commercial treatment with IMCIVREE.

Additionally, Dr. Robert Haws, M.D., Marshfield Clinical Research Institute, presented, Frequency of BBS and ALMS1 Variants in a Cohort With Early-onset Obesity. Based on updated URO results, the Company projects that 0.34% of individuals with early-onset, severe obesity may carry pathogenic or likely pathogenic variants in genes known to be associated with BBS or Alstrom syndrome (or 0.24%, excluding patient samples from a leading BBS clinic where higher frequency of BBS-related variants would expected). Including patients with variants of unknown significance (VUS), Rhythm estimates that 1.96% of individuals with early-onset, severe obesity may carry biallelic variants in one of 22 known BBS-associated genes or ALMS1.3

Also at the Overcoming Obesity 2021 Conference, Rhythm and its collaborators presented three additional abstracts as posters, all of which detailed previously reported clinical data:

Efficacy and Safety of the Melanocortin-4 Receptor Agonist Setmelanotide in Obesity Due to Bardet-Biedl Syndrome: a Phase 3 Trial, as presented by Dr. Robert Haws, M.D., Marshfield Clinical Research Institute;

Setmelanotide in POMC, PCSK1, or LEPR Heterozygous Deficiency Obesity (Phase 2), as presented by Sadaf Farooqi, Ph.D., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge Biomedical Research Centre, University of Cambridge;

Trial of a Once-Weekly Setmelanotide Formulation in Patients with Obesity, as presented by Annette Valles-Sukkar, Director Clinical Operations, Rhythm Pharmaceuticals.

All Rhythms presentations from Obesity Medicine Associations Overcoming Obesity 2021 Conference and its Digital Experience will be available on the Publication and Presentations section of its website: https://www.rhythmtx.com/publications/ .

About Rhythm PharmaceuticalsRhythm is a commercial-stage biopharmaceutical company committed to transforming the treatment paradigm for people living with rare genetic diseases of obesity. Rhythms precision medicine, IMCIVREE (setmelanotide), was approved in November 2020 by the U.S. Food and Drug Administration (FDA) for chronic weight management in adult and pediatric patients 6 years of age and older with obesity due to POMC, PCSK1 or LEPR deficiency confirmed by genetic testing and in July and September 2021, respectively, by the European Commission (EC) and Great Britains Medicines & Healthcare Products Regulatory Agency (MHRA) for the treatment of obesity and the control of hunger associated with genetically confirmed loss-of-function biallelic POMC, including PCSK1, deficiency or biallelic LEPR deficiency in adults and children 6 years of age and above. IMCIVREE is the first-ever FDA-approved and EC- and MHRA-authorized therapy for patients with these rare genetic diseases of obesity. Rhythm is advancing a broad clinical development program for setmelanotide in other rare genetic diseases of obesity, and is leveraging the Rhythm Engine and the largest known obesity DNA database -- now with approximately 37,500 sequencing samples -- to improve the understanding, diagnosis and care of people living with severe obesity due to certain genetic deficiencies. Rhythms headquarters is in Boston, MA.

IMCIVREE (setmelanotide) IndicationIn the United States, IMCIVREE is indicated for chronic weight management in adult and pediatric patients 6 years of age and older with obesity due to proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency. The condition must be confirmed by genetic testing demonstrating variants in POMC, PCSK1, or LEPR genes that are interpreted as pathogenic, likely pathogenic, or of uncertain significance (VUS).

In the EU and Great Britain, IMCIVREE is indicated for the treatment of obesity and the control of hunger associated with genetically confirmed loss-of-function biallelic POMC, including PCSK1, deficiency or biallelic LEPR deficiency in adults and children 6 years of age and above. IMCIVREE should be prescribed and supervised by a physician with expertise in obesity with underlying genetic etiology.

Limitations of UseIMCIVREE is not indicated for the treatment of patients with the following conditions as IMCIVREE would not be expected to be effective:

Obesity due to suspected POMC, PCSK1, or LEPR deficiency with POMC, PCSK1, or LEPR variants classified as benign or likely benign;

Other types of obesity not related to POMC, PCSK1 or LEPR deficiency, including obesity associated with other genetic syndromes and general (polygenic) obesity.

Important Safety Information

WARNINGS AND PRECAUTIONS

Disturbance in Sexual Arousal: Sexual adverse reactions may occur in patients treated with IMCIVREE. Spontaneous penile erections in males and sexual adverse reactions in females occurred in clinical studies with IMCIVREE. Instruct patients who have an erection lasting longer than 4 hours to seek emergency medical attention.

Depression and Suicidal Ideation: Some drugs that target the central nervous system, such as IMCIVREE, may cause depression or suicidal ideation. Monitor patients for new onset or worsening of depression. Consider discontinuing IMCIVREE if patients experience suicidal thoughts or behaviors.

Skin Pigmentation and Darkening of Pre-Existing Nevi: IMCIVREE may cause generalized increased skin pigmentation and darkening of pre-existing nevi due to its pharmacologic effect. This effect is reversible upon discontinuation of the drug. Perform a full body skin examination prior to initiation and periodically during treatment with IMCIVREE to monitor pre-existing and new skin pigmentary lesions.

Risk of Serious Adverse Reactions Due to Benzyl Alcohol Preservative in Neonates and Low Birth Weight Infants: IMCIVREE is not approved for use in neonates or infants.

ADVERSE REACTIONS

The most common adverse reactions (incidence 23%) were injection site reactions, skin hyperpigmentation, nausea, headache, diarrhea, abdominal pain, back pain, fatigue, vomiting, depression, upper respiratory tract infection, and spontaneous penile erection.

USE IN SPECIFIC POPULATIONSDiscontinue IMCIVREE when pregnancy is recognized unless the benefits of therapy outweigh the potential risks to the fetus.

Treatment with IMCIVREE is not recommended for use while breastfeeding.

To report SUSPECTED ADVERSE REACTIONS, contact Rhythm Pharmaceuticals at +1 (833) 789-6337 or FDA at 1-800-FDA-1088 or http://www.fda.gov/medwatch.

See Full Prescribing Information, EU SmPC and MHRA SmPC for IMCIVREE.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. All statements contained in this press release that do not relate to matters of historical fact should be considered forward-looking statements, including without limitation statements regarding the potential, safety, efficacy, and regulatory and clinical progress of setmelanotide, our expectations surrounding potential regulatory submissions, approvals and timing thereof, our business strategy and plans, including regarding commercialization of setmelanotide, and our participation in upcoming events and presentations. Statements using word such as expect, anticipate, believe, may, will and similar terms are also forward-looking statements. Such statements are subject to numerous risks and uncertainties, including, but not limited to, our ability to enroll patients in clinical trials, the design and outcome of clinical trials, the impact of competition, the ability to achieve or obtain necessary regulatory approvals, risks associated with data analysis and reporting, our liquidity and expenses, the impact of the COVID-19 pandemic on our business and operations, including our preclinical studies, clinical trials and commercialization prospects, and general economic conditions, and the other important factors discussed under the caption Risk Factors in our Quarterly Report on Form 10-Q for the quarterly period ended June 30, 2021 and our other filings with the Securities and Exchange Commission. Except as required by law, we undertake no obligations to make any revisions to the forward-looking statements contained in this release or to update them to reflect events or circumstances occurring after the date of this release, whether as a result of new information, future developments or otherwise.

Corporate Contact:David ConnollyHead of Investor Relations and Corporate CommunicationsRhythm Pharmaceuticals, Inc.857-264-4280dconnolly@rhythmtx.com

Investor Contact:Hannah DeresiewiczStern Investor Relations, Inc.212-362-1200hannah.deresiewicz@sternir.com

Media Contact:Adam DaleyBerry & Company Public Relations212-253-8881adaley@berrypr.com

_______________________________1 Assessments were taken for patients in Rhythms Phase 3 trials who experienced weight loss of at least five kilograms (or at least five percent of baseline body weight for the patients who weighed less than 100 kg). QOL was assessed using the Impact of Weight on Quality of Life-Lite (IWQOL-Lite) scale for patients 18 years or older, and using the Pediatric Quality of Life Inventory (PedsQL) for children and adolescents aged 8 to 12 and 13 to 17 years, respectively.2 The 64.5% figure represents a weighted yield from 8,599 URO samples collected as of July 12, 2021. Prior to May 2021, Rhythms URO panel tested for variants in 40 obesity-related genes, including 11 genes eligible for the DAYBREAK or EMANATE trials; data for those 11 genes is available in all 8,599 samples. Rhythm launched URO 2.1/3.0 in early May 2021, which now sequences 79 obesity-related genes and the 16p11.2 chromosomal region, including 25 additional DAYBREAK/EMANATE genes. Data on all 79 genes (including all 36 DAYBREAK/EMANATE genes) was available for 788 patients, and then used to calculate a weighted yield across the total study population.3 Data on the frequency of BBS and ALMS1 variants were collected from URO samples as of July 5, 2021, which included a smaller sample size of 8,459 sequenced individuals.

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Hyris developed a rapid T-cell test to track patients' immunity levels to SARS-CoV-2 for global clinical use after having inked an exclusive licensing agreement with Duke-NUS Medical School. This new solution leverages the Hyris SystemTM, a proprietary platform that enables genetic testing in any setting, at any time, with results available in real-time through its AI-powered platform.

Hyris supports research over COVID-19 Immunity

LONDON, Oct. 14, 2021 (GLOBE NEWSWIRE) -- After almost two years of fight against COVID-19, governments, NGOs, and corporations are now focusing on strategies and solutions to boost population immunity and move onto the next phase - possibly out of the pandemic.

Hyris, a global, innovation-based biotechnology company renowned for its inclusive approach to genetic analysis, offers a wide range of solutions to support medical professionals and decision-makers in the fight against COVID-19. The proprietary genetic testing Hyris SystemTM has been successfully used to detect the presence of the Coronavirus on surfaces and environments (the SARS-CoV-2 Environmental test) and the infection COVID-19 into individuals (SARS-CoV-2 Human test). The tests have been able to reliably detect the presence of all the main Variants of Concern since July 2020, helping to keep people safe around the world effectively.

"Alongside with limiting the spread of SARS-CoV-2 new variants and potential hotspots, getting high immunity rates among populations is the number one priority for policymakers and health institutions," says Stefano Lo Priore, Founder and CEO at Hyris. "Hyris integrated its solutions with a simple yet effective test, to measure a patient T-cell immune response to the SARS-CoV-2 virus, which causes COVID-19."

The T-cell clinical test kit was developed through an exclusive licensing agreement between Hyris and Duke-NUS Medical School. "This new kit enables quick evaluation of T-cell immune responses in COVID-19 convalescent patients as well as vaccinated people," adds Isabella Della Noce, Chief Biologist at Hyris. "This is a new dimension for vaccine strategies as we face the threat of new virus variants."

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Led by Professor Antonio Bertoletti from the Programme in Emerging Infectious Diseases at Duke-NUS, the research team discovered a simple and rapid method to measure the T-cell immune response to the SARS-CoV-2 virus. The study, titled "Rapid measurement of SARS-CoV-2 spike T cells in whole blood from vaccinated and naturally infected individuals", was published in the Journal of Clinical Investigation.

According to Duke-NUS' press release, this discovery allows a rapid and large-scale expansion of studies to track T-cell activity across the world while not requiring specialised or expensive equipment, helping to define the correlates of protection from T-cells and antibodies for the development of COVID-19 vaccines.

Many progressive organisations and medical centres worldwide have already chosen the Hyris System as the ideal 'Point of Care' solution in the fight against COVID-19. Such a test is a prime example of how scientific innovation is key to the fight against the SARS-CoV-2 virus. "Today, more than ever before, we need wider access to diagnostic systems and tests, but also to support and validate vaccination campaigns around the world," concludes Lo Priore.

Contact a Hyris expert to discover how to perform beyond your current diagnostic capability info@hyris.net.

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The Direct-to-consumer Genetic Testing market report provides a granular assessment pertaining to the key development trends and dynamics impacting this industry landscape over the analysis timeframe. It offers significant inputs with respect to the regulatory outlook as well as geographical landscape of this business space. The study also elaborates on the factors that are positively influencing the overall market growth and encloses a detailed SWOT analysis. Additionally, the document comprises of limitations & challenges impacting the future remuneration and y-o-y growth rate of this market.

The report offers an in-depth analysis of the competitive landscape alongside raw materials and downstream buyers of Direct-to-consumer Genetic Testing market. Moreover, the study assesses the effect of COVID-19 pandemic on the growth opportunities of this industry vertical.

Elaborating on the competitive landscape of Direct-to-consumer Genetic Testing market:

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Expanding on the regional analysis of the Direct-to-consumer Genetic Testing market:

Other details enlisted in the Direct-to-consumer Genetic Testing market report:

What you can expect from our report:

Key Benefits of the Report:

Development policies and plans arediscussed as well as growth rate, manufacturing processes, economic growth are analyzed. This research report also states import or export data, industry supply, and consumption figures as well as cost structure, price, industry revenue (Million USD), and gross margin by regions like North America, Europe, Japan, China, and other countries.

Table Of Content:

Executive Summary

Methodology and Scope

Global Direct-to-consumer Genetic Testing Market Market Overview

Global Direct-to-consumer Genetic Testing Market Industry Trends

Global Direct-to-consumer Genetic Testing Market Component Outlook

Global Direct-to-consumer Genetic Testing Market Mode of Delivery Outlook

Global Direct-to-consumer Genetic Testing Market Types Outlook

Global Direct-to-consumer Genetic Testing Market By Regional Outlook

Competitive Landscape & Company Profile.

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Direct-to-consumer Genetic Testing Market 2021 Global Outlook, Research, Trends and Forecast to 2026 - Northwest Diamond Notes

People who are at a greater risk for developing, or have previously received a diagnosis of, a hereditary cancer have an acceptable method available to them to identify what the chances of passing those and other genetic mutations on to their future children are.

The procedure, known as preimplantation genetic testing, helps identify what, if any, genetic abnormalities are present in embryos that were created during the process of in vitro fertilization (IVF).

This procedure may effectively aid people with a previous diagnosis, or risk, of hereditary cancer from passing those genetic mutations on to future offspring.

During the recent 12th Annual Joining FORCES Against Hereditary Cancer Conference, Dr. Terri L. Woodard, an associate professor in the Department of Gynecologic Oncology and Reproductive Medicine at The University of Texas MD Anderson Cancer Center in Houston, discussed the topic of fertility preservation and parenting issues that cancer survivors and previous often face. Moreover, Woodard highlighted what people should know about certain genetic testing procedures.

Increase in Genetic Mutations

Woodard noted that previous research has shown that adolescents and young adults diagnosed with cancers that are frequently associated with old age often have a higher percentage of inherited cancer mutations.

However, she explained, those rates are higher than were once thought.

In fact, Woodard cited a study of more than 1,000 adolescents aged between 18 years and 39 years and noted that the results demonstrated that approximately 21% of the participants diagnosed with early-onset cancer had a germline mutation. Only 13% of the remaining patients had a germline mutation.

This just highlights the fact that many of these young individuals have genetic mutations that can be passed down along to their offspring, she said. Because these patients are younger, there are often fertility and family building issues that arise.

Fertility and Future Family Planning Concerns

There are several genetic conditions associated with a greater cancer risk, according to Woodard. If people have any of those conditions, they are likely to want to pursue genetic testing. For instance, she highlighted hereditary breast and ovarian cancer syndrome. Woodard noted that many of these patients may experience some form of infertility at a younger age than other people. These patients also may need to undergo risk-reducing surgeries to prevent ovarian cancer.

Another condition, known as Li-Fraumeni syndrome, is associated with a greater risk for developing sarcomas, central nervous system tumors, breast cancer and gonadal germ cell tumors all of which, according to Woodard, negatively affect a persons fertility.

Thats why, she said, many of these individuals need to be partaking in fertility preservation conversations with their care team.

Additionally, some of these cancers may require treatment that negates a persons ability to have children.

Fertility Preservation Methods

Woodard shared insight on some of the fertility preservation methods that people have access to. She noted that eggs, embryos and sperm can all be frozen for use later. Ovarian and testicular tissue freezing are also possibilities, according to Woodard.

Another option available to patients who require radiation to the areas surrounding their reproductive organs is gonadal shielding. In this instance, radiology technicians use protective shields to minimize radiation exposure to certain areas.

People can also go through an experimental approach known as ovarian suppression. Woodard explained that a gonadotropin-releasing hormone agonist is used in women to suppress the ovary during chemotherapy.

The thought is that a quiet ovary is more resistant to the effects of chemotherapy than one that is actively cycling, she said during her presentation.

She cautioned, however, that the data that are available on this approach are quite variable.

Family Building Options

There are a great range of opportunities available to patients when deciding to have a family, Woodard explained. Depending on their comfort levels, she said, options available to patients range from natural conception to IVF and plenty more.

For people who may have premature ovarian failure because of their cancer treatment, there is an option to use donor eggs, sperm or embryos. There are also gestational carriers for women who may no longer have a uterus or are deemed too high risk to carry a pregnancy to full-term.

And lastly, Woodard noted that people can pursue adoption. However, she explained, it can sometimes be difficult for people with a history of cancer to adopt.

Sometimes adoption can be challenging for survivors of cancer because some agencies see it as too risky and do not allow those patients to have kind of the initial screening, she said. Asking an adoption agency, whether a cancer diagnosis will disqualify them early on, is a very important question for patients to ask.

Genetic Testing for Future Children

Woodard concluded her discussion by reviewing genetic testing methods that are available for patients to use for assessing the possibility of passing inherited mutations down to future children.

Patients who are already pregnant may use prenatal genetic testing, she said. Prenatal screening lets the parents know what the chances are that the child would have abnormal genetics. Diagnostic prenatal tests are slightly different in that they can show if a fetus is affected with a certain disorder.

The problem with prenatal genetic testing is that the patient is already pregnant, she said. If we find an abnormality, it really has some implications and has patients (making) some hard decisions on whether they would want to continue the pregnancy or not.

For those patients who are not yet pregnant and may be considering IVF, preimplantation genetic testing is a viable option.

Woodard explained that an embryo is tested after the initial IVF prior to transplanting the embryo back into the patients uterus. There are several types of preimplantation genetic testing, but one specifically tests the embryo for a specific gene.

If a woman is a carrier of a BRCA mutation, and she wants to test her embryo for that mutation, this is the type of testing we would use, she explained.

Although some consider preimplantation genetic testing to be unethical or controversial because some people use it for sex selection of their baby Woodard noted its a viable option for many trying to start a family without passing genetic mutations down to their offspring.

(Preimplantation genetic testing) is an acceptable method to prevent transmission of mutations to offspring, but requires in-depth genetic counseling and support, she concluded.

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Novel Procedure Considered an 'Acceptable Method' to Preventing Transmission of Hereditary Cancer Mutations to Children - Curetoday.com