Archive for the ‘Genetic Testing’ Category

(Fargo, ND) -- Gene testing is benefiting more women than ever by allowing them to dive deeper into their families history with breast and ovarian cancer.

"Do I wish 10 year ago I would've done this testing? Absolutely."

This is what two time cancer survivor and Sanford Roger Maris Cancer Center patient, Sandy Dunn, had to say about the genetic testing.

"I was diagnosed with breast cancer in 2008. I was 44 years old and then I had a recurrence in 2010," says Sandy.

During this time, her oldest daughter was diagnosed with breast cancer, just two weeks after her 34th birthday.

"They knocked her down pretty hard. She's pretty weak. It's very hard to see,um, she still has that beautiful smile though. I'm sorry. This has been tough. It's the hardest thing I've ever gone through in my life, but we're going to survive this, too."

After her daughter's diagnoses, Sandy took her and her youngest daughter to get genetic testing for breast cancer.

This test is a simple blood draw, but doctors are able to see if there is a gene that is increasing a risk for cancer, like the BRCA Gene.

"They're the ones that we know are associated with breast and ovarian cancer and then also prostate cancer in men," says Genetic Counselor Meghann Reardon.

This type of gene testing also shows doctors if these types of cancers are hereditary.

Reardon explains, "so, if a person test positive, we know that all their children - boys and girls - are at a 50% risk to have inherited that as well."

Knowing that information, Sandy wishes she would've taken the test sooner.

"As we started digging into this, I learned that there was other women in our history that had breast cancer and some of them had not survived. This was not information that we were discussing in our family. So this test brought up these topics of conversation," says Sandy.

While, Sandy said it was scary to have her BRCA test come out positive, she says it was also empowering. Moving forward, she can make her own decisions. Like other surgeries that can help lower her risk of getting breast or ovarian cancer, again.

"I keep saying that I've been driving in this car that's been weaving all over the road and I don't know what it's going to smash into and my driver has been cancer. This BRCA testing puts me in the drivers seat," says Sandy.

Meaning now, she's kicking cancer to the curb.

At this time, BRCA gene testing is only for patients with a concerning personal condition or family history of cancer.

If you'd like to know more, it's advised to speak with your doctor.

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BRCA Gene Testing allowing patients to dive deeper into their families history of breast cancer - Valley News Live

Its hard to regard Ellie as a menace.

When Greg Manteufel is frustrated or feeling down, she sits by him. At night, she sleeps under his covers. At dinner, shes there next to him, knowing hell throw something her way. She belies the stereotype of the vicious pit bull.

We love her like shes our daughter, he said of the dog.

And yet, Ellie may be the reason Manteufel, 49, nearly died.

Gravely ill, he lost parts of his arms and legs, as well as the skin of his nose and part of his upper lip. The cause was capnocytophaga, a germ from Ellies mouth or from another dog he encountered.

READ MORE: Dog owners limbs amputated after contracting rare infection from lick

Capnocytophaga is commonly found in the saliva of cats and dogs and almost never leads to people getting sick, unless the person has a compromised immune system. But Manteufel was perfectly healthy. In fact, he doesnt think hed ever used his health insurance before he fell ill.

The case is extremely rare and doctors at his hospital, Froedtert & the Medical College of Wisconsin, had no explanation for why he got so sick. But over the last 10 years there have been at least five other healthy people who have had severe reactions to the germ. A team of researchers connected with Harvard Medical School has developed a theory on why a gene change in all the victims.

And their finding means doctors cant rule out the capnocytophaga bacteria could strike Manteufel and other victims again.

Greg Manteufel thought he was getting the flu in June of 2018. He had a fever, vomiting and diarrhea. But when he started getting confused, his family took him to the hospital.

Doctors did blood cultures and found capnocytophaga, which caused sepsis, a severe blood infection that led to his blood pressure dropping and many of his organs shutting down.

Do what you have to, to keep me alive, he told the doctors.

In this Aug. 2, 2018 file photo provided by Dawn Manteufel, Greg Manteufel lays in his hospital bed at Froedtert Hospital in Milwaukee. He lost parts of his arms and legs, as well as the skin of his nose and part of his upper lip from capnocytophaga.

He had so much to live for foremost, his wife of 16 years, Dawn, and 26-year-old son, Mike. He was just starting to get really good at his day job, painting houses. He cherished his Harley Davidson Electric Glide. He was in the middle of fixing up his 66 El Camino. And of course there was Ellie, the pup.

And so he persisted, through more than 20 surgeries, including amputations of his left and right arms just below the elbow, and legs through the middle of the knee.

His wife and son stayed optimistic, because he was.

Greg said he didnt come this far to lay down and let this beat him, Dawn Manteufel said.

He was out of the in-patient rehab unit in about two weeks, learning to move from his wheelchair to the bed, toilet and car. The usual stay is three to four weeks, said Dr. David Del Toro, medical director for the inpatient rehab unit at Froedtert.

Manteufel made similar quick advances using his arm prosthetics and leg prosthetics.

He does not seem like any other patient Ive met before, Del Toro said. Hes just, you know, full speed ahead.

In this Aug. 19, 2019 photo, Greg Manteufel tries out a new prosthetic arm during occupational therapy at Froedtert & the Medical College of Wisconsin, in Milwaukee, as his wife Dawn Manteufel reads paperwork in the background.

Meanwhile, researchers at Brigham and Womens Hospital in Boston, connected to Harvard Medical School, as well as Dana-Farber Cancer Institute and Beth Israel Deaconess Medical Center had been investigating cases like his.

The team has done genetic testing on five otherwise healthy people who suffered capnocytophaga infections to see if they could find anything in common. They discovered all had a gene connected to the immune system that was working differently a genetic variant.

It was a really thrilling moment, said Elizabeth Fieg, a genetic counselor at Brigham and Womens Hospital. The stakes are so high with these cases and the patients have gone through so much.

READ MORE: Owning a dog is good for your heart study says what we all knew

They believe it makes those people more susceptible to developing severe medical problems from capnocytophaga. But they are also trying to determine if there are other risk factors.

Of the five in the study, three survived with amputations and two did not. Fieg hopes their research can determine why some did not survive.

She also hopes if their theory is confirmed, it will help diagnose cases faster, and perhaps save lives and limbs.

Thats why Greg Manteufel jumped at the chance to take part when he was approached in August.

Researchers need to gather more evidence, but hope to publish their study in the next year to 18 months.

Manteufels life now includes frequent occupational therapy appointments to perfect his use of arm prosthetics the kind with metal moveable hooks at the end. Hes using a fork regularly and hes now working on picking up the TV remote, opening doorknobs, cutting vegetables and doing the dishes.

Hes using shortened leg prosthetics, called stubbies, to get his body conditioned to eventually use to full-sized ones. Those are expected to arrive any day.

Plastic surgeons plan another surgery to perfect his nose. Theyve already moved skin from his forehead there. It looks oversized now, but it will eventually fit in with the rest of his face.

He plans to get his car revamped so he can drive with prosthetics. He wants to get a special pole so he can go fishing again. He is even considering going back to work painting.

Hes also become less quiet and a lot more outgoing. Now everybody I see wants to hear something or talk to me. I tell them a 15-minute story about what happened. They probably want me to leave, you know, he said, chuckling.

Ellies often by his side.

She loves kids. She loves puppies. Other dogs, Manteufel said.

As harmless as she seems, she may have capnocytophaga germ.

In this Aug. 16, 2019 photo, Greg Manteufel takes his dog Ellie from his wife Dawn Manteufel at their home in West Bend, Wis.

The results of Manteufels genetic tests are expected in three to four months. Fieg said people with the gene variant are at increased risk for recurrent capnocytophaga or other infections in the future.

While Manteufel doesnt like the sound of that, he said Ellies accidentally scratched him since hes been home and even licked his mouth. Hes been fine.

And even if he does have the gene variant, he said, it changes nothing.

We didnt even bother testing her, said Manteufel. We werent going to get rid of her if it was her that caused it anyway.

We just love her to death.

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Genetics might explain why this mans limbs had to be amputated after his dog licked him - Global News

The proof-of-concept experiment showed data can be encoded in DNA and retrieved using automated systems, a development that may have positive significance for clinical laboratories

It may seem far-fetched, but computer scientists and research groups have worked for years to discover if it is possible to store data on Deoxyribonucleic acid (DNA). Now, Microsoft Research (MR) and the University of Washington (UW) have achieved just that, and the implications of their success could be far-reaching.

Clinical pathologists are increasingly performing genetic DNA sequencing in their medical laboratories to identify biomarkers for disease, help clinicians understand their patients risk for a specific disease, and track the progression of a disease. The ability to store data in DNA would take that to another level and could have an impact on diagnostic pathology. Pathologist familiar with DNA sequencing may find a whole new area of medical service open to them.

The MR/UW researchers recently demonstrated a fully automated system that encoded data into DNA and then recovered the information as digital data. In a simple proof-of-concept test, the team successfully encoded the word hello in snippets of fabricated DNA and converted it back to digital data using a fully automated end-to-end system, Microsoft stated in a news release.

The MR/UW team published their findings in Nature Scientific Reports.

DNAs Potential Storage Capacity and Why We Need It

Thus far, the challenge of using DNA for data storage hasbeen that there wasnt a way to easily code and retrieve the information. That,however, seems to be changing quite rapidly. Several major companies haveinvested heavily in research, with consumer offerings expected soon.

At Microsoft Research, consumer interest in genetic testing has driven the research into using DNA for data storage. As People get better access to their own DNA, why not also give them the ability to read any kind of data written in DNA? asked Doug Carmean, an Architect at Microsoft, during an interview with Wired.

Scientists are interested in using DNA for data storage becausehumanity is creating more data than ever before, and the pace is accelerating.Currently, most of that data is stored on tape, which is inexpensive, but hasdrawbacks. Tape degrades and has to be replaced every 10 years or so. But DNA,on the other hand, lasts for thousands of years!

DNA wont degrade over time like cassette tapes and CDs, and it wont become obsolete, Yaniv Erlich, PhD, Chief Science Officer at MyHeritage, an online genealogy platform located in Israel, and Associate Professor, Columbia University, told Science Mag.

Tape also takes up an enormous amount of physical space compared to DNA. One single gram of DNA can hold 215 petabytes (roughly one zettabyte) of data. Wired puts the storage capacity of DNA into perspective: Imagine formatting every movie ever made into DNA; it would be smaller than the size of a sugar cube. And it would last for 10,000 years.

Victor Zhirnov, Chief Scientist at Semiconductor Research Corporation says the worries over storage space arent simply theoretical. Todays technology is already close to the physical limits of scaling, he told Wired, which stated, Five years ago humans had produced 4.4 zettabytes of data; thats set to explode to 160 zettabytes (each year!) by 2025. Current infrastructure can handle only a fraction of the coming data deluge, which is expected to consume all the worlds microchip-grade silicon by 2040.

MIT Technology Review agrees, stating, Humanity is creating information at an unprecedented ratesome 16 zettabytes every year. And this rate is increasing. Last year, the research group IDC calculated that well be producing over 160 zettabytes every year by 2025.

Heavy Investment by Major Players

The whole concept may seem like something out of a sciencefiction story, but the fact that businesses are investing real dollars into itis evidence that DNA for data storage will likely be a reality in the nearfuture. Currently, there are a couple of barriers, but work is commencing toovercome them.

First, the cost of synthesizing DNA in a medical laboratoryfor the specific purpose of data storage must be cheaper for the solution tobecome viable. Second, the sequencing process to read the information must alsobecome less expensive. And third is the problem of how to extract the datastored in the DNA.

In a paper published in ASPLOS 16, the MR/UW scientists wrote: Today, neither the performance nor the cost of DNA synthesis and sequencing is viable for data storage purposes. However, they have historically seen exponential improvements. Their cost reductions and throughput improvements have been compared to Moores Law in Carlsons Curves Important biotechnology applications such as genomics and the development of smart drugs are expected to continue driving these improvements, eventually making data storage a viable application.

Automation appears to be the final piece of the puzzle. Currently,too much human labor is necessary for DNA to be used efficiently as datastorage.

It may take some time before DNA becomes a viable medium fordata storage. However, savvy pathology laboratory managers should be aware of,and possibly prepared for, this coming opportunity.

While its unlikely the average consumer will see muchdifference in how they save and retrieve data, medical laboratories with theability to sequence DNA may find themselves very much in demand because oftheir expertise in sequencing DNA and interpreting gene sequences.

Dava Stewart

Related Information:

With a Hello, Microsoft and UW Demonstrate First Fully Automated DNA Data Storage

Demonstration of End-to-End Automation of DNA Data Storage

UW Team Stores Digital Images in DNAand Retrieves Them Perfectly

Microsoft and UW Demonstrate First Fully Automated DNA Data Storage

Storing Data in DNA Is A Lot Easier than Getting It Back Out

DNA Could Store All of the Worlds Data in One Room

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Forget SiliconSQL On DNA Is the Next Frontier for Databases

View original post here:
Microsoft Research Develops DNA Storage - DARKDaily.com - Laboratory News

Prostate cancer grows so slowly in some men that doctors often recommend active surveillance or watchful waiting instead of more aggressive treatment. In fact, one study from the Johns Hopkins Active Surveillance Program found that less than 1% of men with low-risk prostate cancer developed metastatic disease after 15 years of active surveillance.

But if prostate cancer grows slowly, the same cant be said for research into the disease.

In fiscal year 2017 alone, the National Cancer Institute (part of the National Institutes of Health) funded 876 studies into prostate cancer, while the Prostate Cancer Foundation reports that nearly 1,000 clinical trials are exploring treatments and treatment strategies in the U.S. Some of that research will lead to improvements in prevention, detection and treatment. In fact, prostate cancer deaths have been cut in half since 1993, when the Prostate Cancer Foundation was founded. The five-year survival rate now stands at 99%.

Yet prostate cancer is still the second-deadliest cancer among American men (after lung cancer). Theres a misperception that this is a disease of old men that no one dies of, says Dr. Jonathan W. Simons, president and CEO of the Prostate Cancer Foundation. Thats wrong; a man still dies every twenty-one minutes around the clock from prostate cancer.

Since September is National Prostate Cancer Awareness Month, this is a great time to review recent developments in prevention, diagnosis and treatment.

Prostate cancer occurs when cells in the prostate, a small gland below the bladder involved in the production of sperm, begin to grow abnormally.

The first sign of the disease is often an elevated prostate-specific antigen (PSA) count in a blood test. Diagnosis and staging are confirmed through a digital rectal exam (DRE) and tissue biopsies, while genetic testing can help determine the cancers aggressiveness, an important factor in weighing treatment options.

A man still dies every twenty-one minutes around the clock from prostate cancer.

Those options include active surveillance, surgery, chemotherapy, radiation therapy and hormone therapy, each of which comes with its own set of risks and benefits. For example, surgery and radiation can affect urinary, bowel and sexual function, which is one reason active surveillance is preferable for slow-growing, localized prostate cancer.

Until recently, doctors assumed that the key risk factors for prostate cancer were age, a family history of prostate cancer and being of African-American ancestry. Today, however, researchers like Dr. Heather Cheng are looking at family history more broadly.

An associate professor of medical oncology at the University of Washington School of Medicine, Cheng says there are proven genetic links between prostate cancer in men and breast, ovarian and pancreatic cancer in their female relatives.

If there is an inherited cancer risk, that risk may manifest itself in female relatives differently than in male relatives, Cheng says.

The genetic links work both ways. When sharing their family history with their doctors, men should include information about female relatives on both sides of the family who have had cancer. And men who are diagnosed with metastatic prostate cancer should undergo genetic testing, as should their siblings and children if a mutation is discovered.

That doesnt mean a person will definitely get cancer, but it may increase their risk, Cheng says. It also provides information for them to use that risk knowledge to be proactive.

Family history can also help inform a patients decision about whether to have a PSA test. That test is no longer routinely recommended due to the potential for overtreatment, but Cheng says it becomes more important if a man has a known mutation or if theres a family history of early breast and ovarian cancer.

The most inherited cancer of a hundred and eighty seven human cancers is, in fact, prostate cancer; thats been discovered in the last two years, says Jonathan Simons of the Prostate Cancer Foundation. Whats kind of radical is that every urologist should be a genetic counselor.

While an apple a day wont necessarily keep the doctor away, eating tomatoes, guava, watermelon, pink grapefruit, tree nuts, eggplant, spinach and beets may well keep prostate cancer at bay, according to Dr. William W. Li., author of Eat to Beat Disease: The New Science of How Your Body Can Heal Itself.

Numerous studies have shown that certain foods contain natural chemicals that inhibit tumor angiogenesis (the growth of new blood vessels), Li explains. This means eating those foods can starve the cancer by cutting off the tumor blood supply. For example, a National Cancer Institute study of nearly 50,000 men found that those who ate more cooked tomatoes, which are rich in lycopene, had a 28% lower risk of developing prostate cancer.

In fact, Prostate cancer is the most sensitive cancer to a change in diet in terms of surviving longer, says Simons.

Exercise even brisk walking plays a role as well. Exercise improves immunity, which is important for preventing cancer, Li says. It also helps the body fight tumor angiogenesis, which can prevent or slow cancer growth. Exercise also improves the cardiovascular system, brain function and muscle strength all important factors for healthy aging.

The Prostate Cancer Foundation estimates that 175,000 men in the United States will be diagnosed with prostate cancer this year. Fortunately, recent advances are making it easier to detect and treat the disease, according to Dr. Sven Wenske, who practices urology at the Columbia University Irving Medical Center in New York City.

One important advance is the development of magnetic resonance imaging (MRI) fusion technology, in which MRI and ultrasound images are combined to give physicians a better picture of the prostate.

Instead of just taking random (biopsy) samples under ultrasound guidance only from the left and the right lobe (parts of the prostate), we basically target specific areas that the MRI shows us to be abnormal, Wenske says. This is a much more specific and much more accurate way to diagnose prostate cancer. Whats more, the technology can also be used during active surveillance to determine the need for additional biopsies.

In cases of metastatic prostate cancer, doctors now have more tools in their toolboxes, thanks to second-generation anti-androgens. Androgens are male hormones including testosterone, which helps cancer grow. The new anti-androgens include apalutamide, enzalutamide and darolutamide, the latter of which was approved by the Food and Drug Administration in July 2019.

These drugs really help to keep the cancer under control, Wenske says.

More drug approvals are on the horizon. In fact, Simons recommends patients keep up with the latest news on the Prostate Cancer Foundations website because some clinicians may not be aware of the latest developments.

Also on the horizon are increasingly targeted therapies that are no undergoing clinical trials. For example, researchers are testing radioactive molecules that can move through the bloodstream, searching for and destroying prostate cancer cells. These agents target prostate membrane-specific antigen, or PSMA, a protein on the surface of the cells.

Genetics may play a role here as well; a study from The Institute of Cancer Research has shown that genetic testing could help identify patients who would respond well to this therapy.

Although much of the recent news about treatments for prostate cancer has been positive, a study published in July 2019 offered a stark reminder that standard treatments can have serious side effects.

Researchers at the University of Pennsylvanias Perelman School of Medicine did a retrospective study of 154,000 prostate cancer patients and found that androgen-deprivation therapy (ADT; also called hormone therapy) was associated with a heightened risk of developing dementia and Alzheimers disease. Specifically, 13% of patients who received ADT developed Alzheimers disease, compared with 9% of patients who didnt receive the therapy, while 22% of ADT patients developed some form of dementia, versus 16% of non-ADT patients.

Those results didnt surprise Wenske, who has seen anecdotal evidence among his own patients. Unfortunately, he says, thats the only way at this time to really suppress the cancer. If they dont do that treatment, they have a risk for progression. Theres not a lot of wiggle room between choices.

Thats why its reassuring that the National Cancer Institute, the Prostate Cancer Foundation and other groups continue pouring money into research and clinical trials. Perhaps one day, negative side effects and prostate cancer itself will become distant memories.

The Prostate Cancer Foundation offers several free resources on its website, including the Prostate Cancer Patient Guide (updated for 2019) and The Science of Living Well, Beyond Cancer (published in August 2019), which explores the relationship between lifestyle choices and cancer.

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The Latest in Prostate Cancer Treatment - Next Avenue

The Preimplantation Genetic Testing Market Introduction

Preimplantation genetic testing is the process which is used prior to implantation to help identify genetic defects within embryos. This process helps to prevent certain genetic disorders that can transfer from parents to child. It involves screening single cells from embryos and performed during the process of in-vitro fertilization (IVF) prior to embryo transfer. Two main procedures are done for preimplantation genetic testing: preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). The main application of PGD is to identify the presence of chromosomal translocations and single-gene disorders so that these embryos are not transferred and a healthy, disease free babys birth can take place. This process is also done to determine the sex of the embryo prior to the transfer into the uterus. Different techniques are used in preimplantation genetic testing such as Polymerase Chain Reaction (PCR), Next-Generation Sequencing (NGS), and Fluorescence in Situ Hybridization (FISH) for detection of disorders.

Preimplantation genetic screening (PGS) is applied technology from PGD and generally done for those people with recurrent pregnancy loss or infertility. Embryos are screened to determine the cause of miscarriage and implantation failure. Through this screening, abnormal embryos are identified so they are not transferred to the IVF cycle, to achieve successful pregnancy. PGS is done to screen an embryo for normal chromosome number or to identify loss or gain of chromosomal material.

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Preimplantation Genetic Testing Market Competitive Landscape

The global preimplantation genetic testing market is fragmented due to presence of major players. Key players operating in the global preimplantation genetic testing market include Agilent Technologies, Inc., Illumina, Inc., Abbott Laboratories, CooperSurgical, Inc., Thermo Fisher Scientific Inc., PerkinElmer Inc., Natera, Inc., Quest Diagnostics Incorporated, Genea Limited, and Vitrolife.

New product launch, partnerships, collaborations, and mergers & acquisitions are some of the key strategies adopted by these major players in developed as well as emerging economies. For instance, in January 2017, Agilent Technologies, Inc. and the Centre for Human Genetics, University of Leuven, and University Hospitals Leuven collaborated to investigate new solutions of preimplantation genetic testing.

Agilent Technologies, Inc.

Agilent Technologies, Inc. is headquartered in Santa Clara, CA, U.S. and operates in life sciences, diagnostics, and applied chemicals markets. The company was founded in 1999 and offers instruments, services, consumables, applications, and expertise to address the full range of scientific and laboratory management needs. Agilent Technologies, Inc. provides OnePGT Solution for research purposes which uses NGS technology.

Illumina, Inc.

Founded in 1998, Illumina, Inc.is based in San Diego, California, U.S. The company develops, manufactures, and markets life science tools and integrated systems for large-scale analysis of genetic variation and function. It has a global presence with over 7,300 employees globally. Illumina, Inc. offers various karyomapping products and solutions for PGD such as Infinium HumanKaryomap-12 DNA Analysis Kit and NextSeq 550 System.

The company has adopted a distribution partnership, collaboration, and alliances strategy for its PGD products. For instance, in October 2018, Illumina, Inc. and Vitrolife signed a distribution agreement. This agreement provided exclusive development, distribution, and commercialization rights to Vitrolife for Illumina, Incs. Preimplantation genetic testing business for IVF in the Americas and EMEA.

Abbott Laboratories

Established in 1888, Abbott Laboratories is headquartered in Chicago, Illinois, U.S. Abbott Laboratories is a major healthcare company which offers healthcare products and solutions such as diagnostics, medical devices, nutritionals, and branded generic medicines. The company serves more than 160 countries. Its PGD products and solutions comes under the genetics and genomics product division.

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CooperSurgical, Inc.

Founded in 1990, CooperSurgical, Inc. is based in Trumbull, Connecticut, U.S. The company has a diversified product portfolio of more than 600 products. It operates through two business segments: CooperSurgical medical devices and CooperSurgical Fertility & genomic solutions. The company offers PGT-A, PGT-M, and PGT-SR, which are major test solutions for PGD and PGS.

Preimplantation Genetic Testing Market- Dynamics

Rise in number of cases of child birth with genetic disorders and declining fertility rate globally to drive the global preimplantation genetic testing market

Increasing incidence of child birth with genetic disorders such as cystic fibrosis, Huntingtons disease, Down syndrome, and Turner syndrome due to chromosomal abnormalities, single gene defects, and other reasons is being seen. Rise in conditions of genetic disorders & abnormalities is attributed to growth of global preimplantation genetic testing market. For instance, as per CDC, around 6,000 babies are born with Down syndrome in the U.S. every year. According to the same report, between1979 to 2003, and the number of babies born with Down syndrome increased by about 30% in the U.S. Moreover, fertility rate among the current population is declining in recent years due to lifestyle changes which is propelling the need for PGS and hence the preimplantation genetic testing market is slated to grow globally.

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Higher risk of chromosomal abnormalities associated with advancing maternal age and more IVF procedures coupled with rise in number of fertility clinics, major growth drivers of the market

The risk of chromosomal abnormality increases with maternal age. A baby born to an older woman has higher risk of being born with some type of chromosomal abnormality & defect. According to an article published by Stanford Children's Health, U.S., the chance of having a child affected by Down syndrome rises from around 1 in 1,250 for a woman who conceives at the age of 25 years, to about 1 in 100 for a woman who conceives at the age of 40 years. Also, rise in number of fertility clinics and IVF procedures worldwide is propelling the growth of the global preimplantation genetic testing market.

Higher procedural cost and certain regulatory norms restraining the market growth

Factors such as higher cost associated with PGD & PGS and certain strict regulatory norms are likely to hamper the growth of the global preimplantation genetic testing market. Preimplantation genetic testing is a complex procedure that entails a lot of laboratory work; hence, the cost can be significant and high for the entire procedure. Also, non-medical use of PGD and PGS raises the government regulatory norms in certain countries. These strict rules are likely to hamper the growth of the global preimplantation genetic testing market.

North America preimplantation genetic testing Market Major Market

North America dominated the global preimplantation genetic testing market in 2018. It is projected to maintain its position during the forecast period. Higher infertility rate, more number of IVF cycles, presence of major players in the region, and adoption of highly advanced technologies for genomics are some of the major factors responsible for the dominance of this region in the global market. For instance, according to CDC data, between 2011 to 2015, 6.7% of married women aged 15-44 years were facing infertility problems in the U.S.

Preimplantation Genetic Testing Market Segmentation

The global market can be segmented on the basis of: Procedure Type Product & services Technology Application End-user Region

Preimplantation Genetic Testing Market Segmentation By Procedure Type

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Based on procedure type, the market can be segmented into: Preimplantation Genetic Diagnosis Preimplantation Genetic Screening

Preimplantation Genetic Testing Market Segmentation By Product & Services

In terms of product & services, the market can be divided into: Reagents & Consumables Instruments Softwares & Services

Preimplantation Genetic Testing Market Segmentation By Technology

On the basis of technology, the market can be classified into: Polymerase Chain Reaction(PCR) Next-Generation Sequencing(NGS) Fluorescence in Situ Hybridization(FISH) Others

Preimplantation Genetic Testing Market Segmentation By Application

Depending on application, the market can be segmented into: Aneuploidy Single Gene Disorders Structural Chromosomal Abnormalities Gender Identification HLA Typing Others

Structural Chromosomal Abnormalities segment is further sub segmented into- Inversions Translocations Deletions Duplications

Preimplantation Genetic Testing Market Segmentation By End-user

Based on end-user, the market can be divided into: Hospitals, Diagnostic Labs & Service Providers Maternity & Fertility Centers Research Laboratories & Academic Institutes

The report offers a comprehensive evaluation of the market. It does so via in-depth qualitative insights, historical data, and verifiable projections about market size. The projections featured in the report have been derived using proven research methodologies and assumptions. By doing so, the research report serves as a repository of analysis and information for every facet of the market, including but not limited to: Regional markets, technology, types, and applications.

The study is a source of reliable data on: Market segments and sub-segments Market trends and dynamics Supply and demand Market size Current trends/opportunities/challenges Competitive landscape Technological breakthroughs Value chain and stakeholder analysis

The regional analysis covers: North America (U.S. and Canada) Latin America (Mexico, Brazil, Peru, Chile, and others) Western Europe (Germany, U.K., France, Spain, Italy, Nordic countries, Belgium, Netherlands, and Luxembourg) Eastern Europe (Poland and Russia) Asia Pacific (China, India, Japan, ASEAN, Australia, and New Zealand) Middle East and Africa (GCC, Southern Africa, and North Africa)

The report has been compiled through extensive primary research (through interviews, surveys, and observations of seasoned analysts) and secondary research (which entails reputable paid sources, trade journals, and industry body databases). The report also features a complete qualitative and quantitative assessment by analyzing data gathered from industry analysts and market participants across key points in the industrys value chain.

A separate analysis of prevailing trends in the parent market, macro- and micro-economic indicators, and regulations and mandates is included under the purview of the study. By doing so, the report projects the attractiveness of each major segment over the forecast period.

Highlights of the report: A complete backdrop analysis, which includes an assessment of the parent market Important changes in market dynamics Market segmentation up to the second or third level Historical, current, and projected size of the market from the standpoint of both value and volume Reporting and evaluation of recent industry developments Market shares and strategies of key players Emerging niche segments and regional markets An objective assessment of the trajectory of the market Recommendations to companies for strengthening their foothold in the market

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Preimplantation Genetic Testing Market Opportunity Analysis and Industry Forecast up to 2027 - Rapid News Network

A recent Peer Exchange series from The American Journal of Managed Care brought together a panel of experts to discuss spinal muscular atrophy (SMA), including its clinical presentation, diagnosis of its various types, and the potential of new disease-modifying treatments. The panel was moderated by Peter L. Salgo, MD.

SMA is not a common disease, and Salgo admitted he was unaware of it until he began preparing to moderate the series, but it is actually the most common genetic cause of infant death, according to John Brandsema, MD.1 This neurodegenerative disorder most commonly presents in infants with symptoms of limb weakness. In the most severe form of the disease, SMA type 1, which has the earliest onset, symptoms include impaired respiratory function.

The most common thing would be in an infant, hypotonia and a little bit of floppiness, which can be part of normal spectrum of development in some kids. Most primary specialists might think of something like instituting some physical therapy for a couple of months and seeing whether that helps the patient, Brandsema explained. But in SMA type 1, that is an eternity because theyre going to get worse during that time and start to show problems with their breathing and their feeding.1

To confirm suspected SMA, clinicians perform genetic testing to search for double deletion of the SMN1 gene, which causes the SMN protein deficiency that leads to the symptoms of motor neuron loss and weakness.2

The type of diagnostic scale used to assess the severity of SMA depends on a patients age, Brandsema said.2 Young infants with type 1 SMA will often undergo the Childrens Hospital of Philadelphia Infant Test of Neuromuscular Disorders and the Hammersmith Infant Neurological Exam, whereas slightly older patients with type 2 or type 3 disease would be measured with the Hammersmith Functional Motor Scale.

Youre really trying to find the right test thats going to measure the patients function in the moment and also how theyre changingwhich, in the natural history, would be loss over time on these scales of points or function, Brandsema said. But with these new disease-modifying therapies, it may in fact be improvement.2

The new targeted gene therapies that Brandsema referenced have produced significant therapeutic impact and changed the landscape of SMA treatment, but insurance coverage can determine patients access. Payers are not sure how long the benefits of treatment will last, which makes it difficult for them to determine the value of these treatments, according to Surya Singh, MD.

People usually think about longevity in terms of the patient, Singh explained. But here, as were just about on the cusp of sort of viral delivered gene therapythe question becomes, does this method for producing the protein that we want continue to work? Or does the body find some way to be able to decrease those levels? And what happens then? Does it require a boost?3

Although these questions have yet to be answered, the panelists agreed that the therapeutic developments have given hope to families who previously had none.

Im excited, and I am proud to be in a profession that has done this for people and is continuing to do this for peopleand that includes insurance, Salgo concluded. Everybody has got a piece of this, and its all going the right way.4

References

1. Spinal muscular atrophy (SMA) and types of SMA. The American Journal of Managed Care website. ajmc.com/peer-exchange/rare-neurological-diseases/spinal-muscular-atrophy-sma-and-types-of-sma. Published July 8, 2019. Accessed August 20, 2019.

2. Diagnostic tests and scales of SMA. The American Journal of Managed Care website. ajmc.com/peer-exchange/rare-neurological-diseases/diagnostic-tests-and-scales-of-sma. Published July 22, 2019. Accessed August 20, 2019.

3. Payer perspective and value of treatment of SMA. The American Journal of Managed Care website. ajmc.com/peer-exchange/rare-neurological-diseases/segment-title-payer-perspective-and-value-of-treatment-of-sma. Published August 12, 2019. Accessed August 20, 2019.

4. Risdiplam and final thoughts. The American Journal of Managed Care website. ajmc.com/peer-exchange/rare-neurological-diseases/risdiplam-and-final-thoughts. Published August 19, 2019. Accessed August 20, 2019.

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Experts Discuss Symptoms, Types, and Treatments of SMA - AJMC.com Managed Markets Network

The latest research report byvertexmarketinsights.comAnd Consulting on Breast Cancer Predictive Genetic Testing gives complete guidance which provides the most recent Breast Cancer Predictive Genetic Testing industry patterns like marketdevelopment openings, growth, size, and share. Global Breast Cancer Predictive Genetic Testing Market report includes an introduction to new trends that can guide the organizations performing in theindustry to comprehend the market and increase the procedures for their business development individually.

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Top Key players of Global Breast Cancer Predictive Genetic Testing Market:

RocheThermo Fisher ScientificPerkinElmerQuest DiagnosticsMyriad GeneticsIverson GeneticsCancer GeneticsOncoCyte CorporationNeoGenomicsInvitae

Scope Of the report:

Based on different characteristics of Breast Cancer Predictive Genetic Testing , the market is divided into the segment. This division will assist advertisers with personalizing your market campaigns and furthermore decreases the danger of unbeneficial market campaigns. Through this division, you can without much of a stretch recognize your intended interest group.

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* Strategic recommendations for the new entrants.

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* Strategic recommendations in key business segments based on the market estimations.

* Company profiling with detailed strategies, financials, and recent developments.

* Market Trends (Drivers, Challenges, Constraints, Threats, Investment Opportunities, and recommendations).

Below Table contains Types & Applications of Breast Cancer Predictive Genetic Testing Report

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Chapter 4, Overall Market Analysis, Capacity Analysis (Company Segment), Sales Analysis (Company Segment), Sales Price Analysis (Company Segment);

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Chapter 13, 14 and 15, Breast Cancer Predictive Genetic Testing Systems sales channel, distributors, traders, sellers, Research Findings and Conclusion, appendix and information source.

Explore Detailed Report @: https://www.vertexmarketinsights.com/report/13489/global-breast-cancer-predictive-genetic-testing-market-research-report-2019-by-manufacturers-regions-types-and-applications/#table-of-contents

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Global Breast Cancer Predictive Genetic Testing Market Size and CAGR Forecast by Type, Application, Region (2019-2024) - SocioHerald

By George Lorenzo, Next Avenue Contributor

Getty

The progression and symptoms of early-onset Alzheimer's Disease, typically identified in patients in their 40s or 50s, can vary dramatically depending on the individual. According to the Alzheimers Association, getting an accurate diagnosis of early-onset Alzheimer's can be a long and frustrating process. Symptoms may be incorrectly attributed to stress or there may be conflicting diagnoses from different health care professionals.

The Alzheimers Drug Discovery Foundation (ADDF) is working to eliminate such conflicts through its $50 million Diagnostics Accelerator program. It's aimed at supporting the development of novel biomarkers" for the early detection of Alzheimer's and related dementias.

We want to accelerate the science, says Dr. Howard Fillit, founding executive director and chief science officer of ADDF. That means providing funding to support innovative research to quicken the process of developing and implementing clinical trials required for regulatory approval of Alzheimer's diagnostic tools and programs.

The onset of Alzheimer's, in general, is currently diagnosed through: mental and neuropsychological tests performed by primary care doctors and/or neurologists, along with a review of a patients medical history; genetic testing that identifies the APOE e4 gene associated with early-onset Alzheimer's; a PET scan or invasive spinal tap that may reveal the presence of amyloid plaques and/or tau tangles in the brain and a CT or MRI that can identify vascular dementia.

Also on Forbes:

All of these solutions are relatively expensive (excluding mental testing), time-consuming, challenging to take advantage of, and, in some cases, not administered properly nor proven to yield 100% valid results in diagnosing Alzheimer's.

We must now develop inexpensive and noninvasive biomarkers, preferably blood tests, that will help diagnose Alzheimers disease and track the effectiveness of treatments, wrote Fillit in a recent article published in Scientific American.

DDFs first round of award recipients, announced on May 30, 2019, allocated approximately $3.5 million to two Alzheimer's diagnosis blood tests and two retinal imaging R & D programs. The four Saliha Mussaoui, Amoneta Diagnostics, based in France; Kaj Blennow, University of Gothenberg, Sweden; Tom MacGillivray, University of Edinburgh, Scotland andPeter van Wijngaarden, the Centre for Eye Research in Australia were chosen out of 300 applicants from 30 countries.

Creating a Blood Test to Identify Early-Onset Alzheimer's

Amoneta is an affiliate of Firalis, a life sciences biotechnology company created by Dr. Huseyin Firat. Since 2014, Amoneta has conducted research and development for ultimately creating a valid blood test that can identify mild cognitive impairment (MCI) and early-onset Alzheimer's.

The test, called MemoryLINC, is based on finding difficult-to-monitor and characterize lncRNAs (long noncoding ribonucleic acids) in blood panels. These lncRNAs regulate gene expression and diverse biological functions. It is increasingly recognized that lncRNAs is tightly related to the pathogenesis and prevention and cure of AD (Alzheimer's Disease), notes a January 2019 study published in Pathology - Research & Practice.

Fillit says Amoneta has data indicating that certain RNAs are elevated in blood samples of people with Alzheimer's that are relevant to learning and memory and the disease itself.

The MemoryLINC Project has reached its final clinical validation phase comprised of 800 subjects at 13 European clinical sites in France, Switzerland, Belgium and Turkey. Firat says the MemoryLINC study is the most important clinical study ever done in this domain.

Tau-related Research

The ADDF funding for Blennows project intends to develop brain-specific, tau-related blood tests to identify and monitor neurodegeneration. Tau is a protein contained in nerve cells. It resides in cerebrospinal fluid in the brain and spinal cord and can be gauged through an invasive and highly uncomfortable spinal tap.The aggregation and collapse of tau into tangles that elevate and spread throughout the brain is symptomatic of Alzheimer's.

Measuring tau in blood can be very useful, Fillit explains. But the problem is that tau is present in the blood in such low quantities as it relates to [Alzheimer's] that, so far, we havent been able to measure it effectively. Blennow, however, has discovered how to measure brain-specific tau fragments in blood.

Over the next two years, Blennows team will evaluate the presence of different levels of tau in blood samples. Many of these samples will be identified from a Swedish BioFINDER cohort at Lund University, which includes 600 cognitively healthy individuals, 500 patients with subjective cognitive dysfunction or mild cognitive impairment, and 100 patients with Alzheimer's.

This is an exploratory project aiming to develop a novel analytical method to establish robust blood biomarkers for tau, Blennow explains.

The other two ADDF-funded awardees are conducting research on imaging techniques and processes that can identify the possible unhealthy accumulation of amyloid plaques behind the retina, which is another symptom of Alzheimer's. The Alzheimers Associations 2019 Alzheimers Disease Facts and Figures report noted that recent research has shown that the accumulation of amyloid in the brain were significantly increased starting 22 years before symptoms were expected to develop.

In addition to focusing on amyloid buildup, MacGillivrays project is looking closely at vascular changes in the small blood vessels in the back of the retina, both of which can be seen with Optical Coherence Tomography (OCT) machines that are commonly utilized by ophthalmologists.

MacGillivray says the health of small blood vessels is an increasingly recognized component of dementia and Alzheimer's. We think we see differences in how wide or how narrow these blood vessels are, and also the number of blood vessels that fill the tissue space," he notes.

We are seeing potentially a dying lack of blood vessels or a less optimum range of blood vessels delivering oxygen and nutrients to vascular tissue, and this is then replicated in the brain," says MacGillivray. "We have a quick and non-invasive way to see if blood vessels are changing [by utilizing relatively inexpensive OCT imagery scans] and degrading in a detrimental way inside the brain without having to go through expensive techniques such as MRIs and PETS.

Imagine a world where people who may have memory problems are referred by their primary care doctor to the ophthalmologist around the corner, Fillit says. The ophthalmologist uses the OCT machine to see if there is an amyloid plaque buildup in the back of the eye. It could tell you whether a person is "cooking" Alzheimer's or not, notes Fillit.

These same principles apply to Wijngaardens project, but with different mechanisms and equipment. This one also deals with looking behind the retina for amyloid plaques, but utilizes a sophisticated camera technology, called hyperspectral imaging. That technology can capture images behind the retina revealing different colors of light that correlate to early-onset Alzheimer's based on amyloid plaque buildup.

We can get a wealth of information about the structure of the back of the eye, Wijngaarden says.

To support his research and ultimately incorporate it into everyday clinical practice, Wijngaarden has developed a low-cost portable camera for hyperspectral imaging of the retina. It's being tested for use in routine eye exams where the camera will identify amyloid plaque buildup years before a patient might show signs of cognitive decline.

The Future

What we want to do with the digital accelerator is advance these technologies, measuring things like function, cognition and a whole variety of other variables, Fillit says.

How long will it take for such innovative technologies to possibly get government approval through clinical trials and validation and ultimately reach patients at their next doctor visit? Amoneta estimates that its blood test could be launched for use in clinics in the U.S. and Europe by 2021. The three other awardees all agree that it should take three to five years for their technologies to possibly become common practice in clinics.

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Detecting Early Onset Alzheimers Disease In Innovative Ways - Forbes

Chef Avi Shemtov helps spread the word about BRCA gene mutations with a free dinner

SHARON Eliza Danielson and Jordana Phillips sat at a table for two, excitedly discussing the night's events. But instead of speculating about the chef's tasting menu they were about to be served, Phillips, a radiologist from New York City, was stressing the importance of BRCA mutation testing to Danielson.

I understand that, sometimes, testing for gene mutations can cause anxieties, but this is not one of those times, Phillips said. Danielson agreed to get tested, admitting that she hadnt known about the breast cancer mutation or how dangerous it could be.

Chef Avi Shemtov said this type of conversation is exactly why he held a free dinner last week at Simcha, a Sharon restaurant where Shemtov serves Israeli and Turkish cuisine with New England influences. On Thursday he hosted Nadine Tung, an oncologist specializing in breast cancer, to talk about an ongoing study that includes free genetic testing that helps men and women who are Ashkanazi Jews find out whether they have the mutation, which could significantly increase their chances of getting cancer.

Simcha was filled with predominantly women on Thursday night, with just one man accompanying his wife to the lecture in the packed restaurant. Tung said that she had expected as much because BRCA gene is an abbreviation for breast cancer gene, but that didn't mean that men couldn't be affected by it. A mutation in BRCA 1 raises a woman's chance of getting breast cancer to 87 percent and a mutation in BRCA 2 can cause an extremely aggressive and life-threatening type of prostate cancer in men.

Thursday's free meal at Simcha targeted the area's Jewish population because the mutation Tung is studying is most common among Ashkanazi Jews. Tung said Ashkanazi Jews have a one in 40 chance of having a mutation to the BRCA genes, which is 10 times higher than the general population. Sephardic Jews do not have a higher risk for mutation.

We all inherited some bad genes that put us at risk, said Tung, an Ashkanazi Jew herself. She said that she firmly believed in testing for genetic mutations, even if it can be scary. The information is something you can learn from and take preventative measures.

While Tung spoke, servers brought out plates of wood-oven baked pita and hummus, beets roasted in cast-iron skillets and topped with an Israeli blend of nuts and seeds, and confit chicken wings tossed in sweet and spicy paprika. The food is a reflection of Shemtovs culture, Sephardic food that has an emphasis on Israeli and Turkish cuisine. Shemtovs fathers family moved to Israel from Turkey to escape oppression. There, they met neighbors who had come from all over the world. This influenced Shemtovs grandparents cooking, and ultimately his father and his own cooking for their restaurants.

The major difference between Sephardic and Ashkanazi Jews is their cultural ancestry, Tung said. Sephardic Jews come initially from Spain and traveled to the Middle East and Israel from the Mediterranean Sea. Ashkanazi Jews are from Eastern Europe, Poland and Russia and make up approximately 95 percent of the Jewish population in America.

Shemtov said that even though he is a Sephardic Jew, he felt it was important to help spread information that could help the majority of the American Jewish population. To him, cancer screening is personal, though it is his mother, who converted to Judaism when she married his father, whose family has a greater history a history of cancer.

Shemtov said his mother's father died when she was 12, leaving behind several children. Since becoming a father, Shemtov said he felt he owed it to his children to be tested as frequently as possible for cancer, and he felt others owed it to their families to be tested, as well. When he was approached to host this event, he said he felt compelled to help. Shemtov said that, to him, this event and educating people about BRCA mutations is a way to help others.

If we can identify the gene (mutations) and we can detect cancer, why wouldnt I help spread the word? Shemtov said. He said it was important to him to not just use his restaurant and status as a chef to talk about food.

At one point in the night, Tung announced to the full restaurant that she hoped everyone would spread the word about the BRCA gene mutations to their friends, and also spread the word about how amazing Simchas food was. Shemtov laughed and told people to focus on the gene more, and less about the food.

Burgers, pita, pizza and falafel wont change the world, but it can give me a platform to help others, Shemtov said.

As Tung took questions from the audience, Shemtov leaned against the bar. He was smiling as he looked out at everyone talking. When asked what was on his mind, Shemtov took a second to look over at his mother and sister sitting at the bar before answering.

Whats one free dinner going to cost me if it ends up saving someones life? he said. "If one person out of everyone in this room finds out they have the mutation, then it's completely worth it."

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Sharon chef stresses importance of genetic testing - The Patriot Ledger

Wolters Kluwer Tax & Accounting explores expansion of the definition of qualified medical expenses

Wolters Kluwer Tax & Accounting:

What: In recent years when presented with the opportunity, the Internal Revenue Service (IRS) has identified a number of expenses as qualifying medical expenses for purposes of the itemized deduction for medical expenses or for qualified distributions from health savings accounts or flexible spending accounts. These have included smoking cessation programs, weight loss programs, and gluten-free products for celiac disease. Now, in a private letter ruling, the IRS has spelled out the circumstances under which genetic testing might qualify as a medical expense.

Why: While private letter rulings cannot be relied upon by taxpayers other than the taxpayer to whom it was issued, the ruling on genetic testing does indicate the IRS thinking on the matter and how they might treat similar situations:

Who: Federal tax expert Mark Luscombe, JD, LL.M, CPA, Principal Federal Tax Analyst at Wolters Kluwer Tax & Accounting, is available to discuss these developments with respect to genetic testing and qualified medical expenses in general.

PLEASE NOTE: The content of this article is designed to provide accurate and authoritative information in regard to the subject matter covered. The information is provided with the understanding that Wolters Kluwer Tax & Accounting is not engaged in rendering legal, accounting, or other professional services.

Contact: To arrange interviews with Mark Luscombe, other federal and state tax experts from Wolters Kluwer Tax & Accounting on this or any other tax-related topic, please contact:

MARISA WESTCOTT 212-771-0853 marisa.westcott@wolterskluwer.com

View source version on businesswire.com: https://www.businesswire.com/news/home/20190919005224/en/

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MEDIA ALERT: IRS Approves Medical Expense Deduction for Genetic Testing - Yahoo Finance

Harmfulmutations in the BRCA1 and BRCA2 genes (BRCA1/2) are correlated with increased risk fordeveloping peritoneal, fallopian tube, ovarian, male and female breast,pancreatic, and aggressive prostate cancers. The United States PreventiveServices Task Force (USPSTF) recently updated their recommendations for riskassessment, genetic counseling, and genetic testing for BRCA1/2-relatedcancers from their 2013 recommendation.1

Breastcancer is the most common cancer following nonmelanoma skin cancer in women inthe United States, and it is the second leading cause of cancer death. BRCA1/2mutations occur in approximately 1 in 300 to 500 women, and these mutationsaccount for 5% to 10% of cases of breast cancer and 15% of cases of ovariancancer.1

New Inclusions

In its 2019 recommendation, the USPSTF recommends evaluating women who have a personal or family history of peritoneal, fallopian tube, ovarian, or breast cancer or who have ancestry with harmful mutations in the BRCA1/2 genes with a familial-risk assessment tool. Patients who receive a positive result on the risk-assessment tool should receive genetic counseling and genetic testing if indicated.1

Forwomen without a personal or family history of these cancers or a family historyof harmful BRCA1/2 mutations,the USPSTF recommends against routine risk assessment, genetic counseling, andgenetic testing.1

Nursenavigators are likely to play an important role in facilitating thorough,in-depth conversations with patients about routine assessment, geneticcounseling, and genetic testing. In fact, a 2015 study on efficiency inidentifying cancer patients who should undergo genetic and genomic testing indicatednurse navigators were particularly well positioned in the continuum of cancercare to facilitate timely testing in compliance with recommendations from theNational Comprehensive Cancer Network.2

Support for the Updates

Toupdate their recommendations, the USPSTF evaluated evidence on risk assessment,genetic counseling, and genetic testing for BRCA1/2 mutations in women without symptoms who had never beendiagnosed with a BRCA-related cancer and in women with a prior diagnosisof peritoneal, fallopian tube, ovarian, or breast cancer. Recommendationsindicated a moderate (grade B) benefit to assessment, genetic counseling, andgenetic testing in women with a family or personal history that correlated withincreased risk for peritoneal, fallopian tube, ovarian, or breast cancer or whohave family with harmful BRCA1/2mutations. For women without such personal or family history of cancer or BRCA1/2 mutations, the USPSTF gave a gradeD recommendation, discouraging the service from being used.1

Agrade of B means the USPSTF recommends the service offered as having highcertainty that the net benefit is moderate, or there is moderate certainty thatthe net benefit is moderate to substantial. A grade of D means the USPSTFdiscourages the use of the service as having moderate or high certainty thatthe service has no net benefit or that the harms outweigh the benefits.1

Notably,this updated recommendation now includes women with a previous history ofbreast or ovarian cancer who are considered cancer-free and includes ancestryas a risk factor. A perspective piece contextualizing the USPSTF recommendationalso noted that importantly, but not included in this recommendation, BRCA1/2status is relevant for patients with newly diagnosed early stage breast cancerfor surgical decision making and can also be used to determine appropriatetreatment of certain advanced cancers.3

Althoughthe authors of this perspective emphasized the importance of expanding theUSPSTF recommendation, they also lauded the clear recommendation of identifyingpatients with deleterious BRCA1/2mutations as potentially lifesaving and should be a part of routine medicalcare.3

Originally posted here:
USPSTF Expands Criteria for Recommended BRCA-Associated Genetic Counseling - Oncology Nurse Advisor

Previous studies have shown that the standard test for prostate cancer (prostate-specific antigen or PSA) would not work as a screening tool for the general population as it is not reliable enough.

But the new study found PSA tests were more likely to pick out more serious forms of prostate cancer in men who carry the BRCA2 gene fault than in non-carriers.

This means men with the faulty gene could benefit from regular PSA testing.

The study - published in the journal European Urology - included data for 902 BRCA2 carriers and 497 BRCA2 non-carriers.

All men were offered a yearly PSA test for three years and those with elevated PSA reading were offered a biopsy to confirm whether they had cancer.

The researchers found that men who carry the BRCA2 gene fault were almost twice as likely to be diagnosed with prostate cancer as non-carriers.

Those with the BRCA2 gene fault also had more serious tumours - with 77 per cent of men having clinically significant disease compared with 40 per cent of non-carriers.

Men with the fault were also diagnosed at a younger age - at an average of 61 compared with 64 for non-carriers.

Experts estimate that about one in 300 white men could be carrying the genetic fault, but not all of them will develop prostate cancer.

Study leader Rosalind Eeles, professor of oncogenetics at the Institute of Cancer Research, London, said: "For women who undergo genetic testing, options are available to them if they carry a BRCA fault, including preventative surgery and increased screening.

"But there's no prevention pathway in place if men decide to find out if they're a carrier, which is why our research is so important.

Read more here:
Men with 'Angelina Jolie gene' at double the risk of prostate cancer - Telegraph.co.uk

I have two 23 & Me DNA test kits collecting dust on a shelf in my linen closet. The idea of spitting in a vial and possibly finding out that I have some life-threatening condition lurking in my DNA just waiting to make its fatal appearance freaks me out. I know my thinking is extreme, that there are incredible benefits to knowing your health risks before symptoms show, but I cant control my concerns. Sure, I could opt out of the health results and just learn my ancestry, but I already know my test will come back that I am at least 99 percent Ashkenazi Jewishboth sides of my family emigrated from neighboring towns on the Russia-Poland border. My husbands triplet brothers had the same ancestry results on their DNA tests so there will be no fun surprises for him either. Thats why his test still remains sealed next to mine.

But last month I did end up spitting into a DNA kits vial (they require a ton of spit, by the way!), however it wasnt to learn about my familys history or my health future. I decided to do screening through a saliva sample to determine if I am a genetic carrier for any conditions that I may pass down to my future children.

When my husband and I got married almost a year ago, I knew genetic screening was something we would do ahead of trying to get pregnant. If you are a carrier of a condition and your husband is not, your child is not at risk for the condition. However, if both you and your partner are carriers of the same condition, the odds go up to 25 percent for each pregnancy (are you getting flashbacks of Punnett squares from biology class yet?). Since both my husband and I have Ashkenazi Jewish ancestry, we are two times as likely to be carriers of fatal genetic conditions like Tay-Sachs or Fragile X syndrome. So why wouldnt we do a test that can help us ensure the health of our future children?

As an editor for Parents.com, I know that most children born with genetic conditions have no family history of the disorder. I read and report on parents raising children with life-threatening genetic conditions they were not anticipating during pregnancy. Some know their childs diagnosis at birth and set up GoFundMe pages to tackle the healthcare bills that pile up. Other parents know in their gut that something is wrong, but then it takes years for a doctor to track the genetic mutation causing the issues. I want to give my future children the best opportunity to have a happy, healthy life. If that means I need to spit in a vial to find out their risk for a scary condition and make hard decisions when I get the results, that is exactly what I am going to do.

My first step was to call my OB-GYN to make an appointment for blood work. It turns out that genetic screening before pregnancy is considered optional by many insurance providers, despite my familys ancestry and risk, so testing could cost thousands of dollars out of pocket. No thanks! I started Googling other options. Thats how I came across JScreen, a genetic screening saliva test that screens your risk for more than 200 diseases that are predominant in the Jewish community. The not-for-profit program is based out of Emory University and tests samples in a CLIA-certified lab (so I knew it was legit) and is funded by several Jewish organizations so each kit only costs $149 whether your insurance covers testing or not. To order a test, I had to provide my doctors information so she can sign off and receive the results (they are shared through a HIPPA-compliant database), and thats it. While you dont have to be Jewish to order a JScreen kit, there are other at-home genetic screening kits available on the market, including Invitae, which is ordered through a similar process with your doctor and costs $250. For me, JScreen made the most sense.

Taking the JScreen test was easy (minus the more than 10 minutes it took to fill the vialthe instructions even offered suggestions on how to produce more spit like biting your tongue or cheeksinformation I never thought I'd need), but I admit, I was nervous to find out my results. Its easy to casually say I know exactly what I would do if it turns out Im a carrier for something horrible, but when it comes down to it, its a hard reality to face. But I was glad I chose to work with JScreen since they gave me my results on a call with a genetic counselor rather than in an email Id have to read and analyze on my own. During my results call I had a bunch of questions for my assigned counselor, Melanie Hardy, MS, MS, LCGC, the assistant director of genetic counseling services at JScreen (I am a journalist after all!). She told me that many couples who both test positive for carrying a condition find that the condition in question is mild and/or treatable.

Julia Wilkinson, the reproductive health genetic counselor at Invitae, also shared that its uncommon for both partners to carry variants in the same gene. More than 95 percent of couples tested in our lab find that even if one partner has a potentially concerning mutation, the other doesnt, so their overall risk of having a child with a genetic disorder is low.

Thats good to hear, but it led to my next big question: But what happens if I do carry something serious? For me, the next step would be to have my husband take a test as well, then we would have to consider our options

Hardy then told me that even if a couple learns they are carriers of a more severe condition, there are options for having a healthy child. The news may be surprising at first, but once they find that they have the support of the JScreen genetic counselors who will answer their questions and provide information and resources, they are then equipped with what they need to have a healthy family, she says. She explained the five options that couples have when they find out they are at an increased risk to having a child with a genetic condition:

1) In vitro fertilization with preimplantation genetic testing (PGT) of the embryo. To break it down simply, Hardy says that this process combines sperm and egg outside the womb, then the lab grows embryos and removes some cells from the embryos to complete genetic testing. Only those embryos that do not have the genetic condition get implanted.

2) Use of an egg or sperm donor (the egg or sperm donor will have been tested for the condition and found not to be a carrier).

3) Prenatal testing of the placenta (chorionic villus sampling or CVS) or amniotic fluid (amniocentesis) during pregnancy. This option comes with the caveat that the couple would have two decisions if the baby is found to be affected with the genetic condition: proceed with that information or end the pregnancy.

4) Adoption.

5) Test the child for the condition after birth and treat as needed or as available if the child has the genetic condition.

One common word kept coming up in my conversation with genetic counselors from JScreen and Invitae. Both called the testing process empowering." And I totally agree. We all do so many things before and during pregnancy to ensure the health of our future children: take prenatal vitamins, eat healthy food, stop drinking alcohol, go to routine doctor appointments; so why would we not do a checkup for our future babys genes too?

We cant determine if there is a reproductive risk without testing and avoiding testing doesnt prevent the possibility for devastating news about a child being affected, says Hardy. It is only with testing, preparation, and guidance that couples can make decisions to ensure a healthy family.

Continued here:
Why I Decided to Do Genetic Screening Before Trying to Get Pregnant - Yahoo Lifestyle

Preimplantation genetic testing or preimplantation genetic diagnosis is a technique in which the embryos prepared through in vitro fertilization are tested for defects before implantation. Preimplantation genetic testing enables physicians and to identify the defects present in the embryos and selectively implant healthy embryos in the uterus which increases the chances of delivering a genetically healthy baby. Preimplantation genetic testing helps people to avoid the hereditary disorders that prevail in the family to be carried into the baby. The preimplantation techniques involve various steps like the collection of eggs from the mother or egg donor which are later in vitro fertilized. Fertilized eggs are then tested for various genetic conditions through screening processes. Healthy embryos may be frozen and stored for further use whereas unfit embryos are destroyed. The healthy embryos are implanted to induce pregnancy. Preimplantation genetic testing also serves another purpose like gender selection. However, this application is currently facing several ethical questions. The preimplantation genetic testing is currently is gaining popularity as a fertility treatment option among carriers of sex-linked genetic disorders, single gene donors, people suffering from chromosomal disorders, older women seeking pregnancy and among women who experience recurring abortions.

Preimplantation Genetic Testing Market: Drivers & Restrains

Increasing awareness about preimplantation genetic testing among people suffering from genetic disorders is expected to drive demand for preimplantation genetic testing procedures According to the Global Genes Organization a non profit organization aimed towards promoting needs of the rare diseases community, there are nearly 7000 distinct rare diseases and genetic or rare diseases affect nearly 350 million people globally. Moreover according to the National Institutes of Health (NIH), about 50% people affected by rare diseases are children. Growing number of people suffering from genetic diseases are expected to increase demand for preimplantation genetic testing procedures in order to have a healthy child. Owing to high pregnancy chances with preimplantation genetic testing procedure as compared to other fertility treatments the demand for PGI testing is expected to witness high demand among people seeking IVF treatments. Increasing applications for preimplantation genetic testing for diagnosis of diseases like cancer and other minor disabilities like deafness is expected to create high growth opportunities for preimplantation genetic testing market stakeholders. Even though the preimplantation genetic testing market promises a health growth, restraints like the ethical issues related to preimplantation genetic testing and stringent regulatory policies may hamper the revenue growth of the market. Socio economic concerns related to sex determination and sex discrimination of the embryo are rising issues that might restraint the development of technology in preimplantation genetic testing market.

Preimplantation Genetic Testing Market: Segmentation

The global preimplantation genetic testing market is segmented into following key segments: by application type, by product type, by end users and by geography

Segmentation by application type

Aneuploidy Screening

Gender Screening

Chromosomal Aberration Screening

HLA Typing

Single Gene Disorder Screening

Others

Segmentation by product type

Instruments

Reagents

Analyzer Software

Accessories & Consumables

Segmentation by end user

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Hospitals

Diagnostic Laboratories

Academic Institutions

Fertility Clinics & Maternity Centers

Preimplantation Genetic Testing Market: Overview

The global preimplantation genetic testing market is expected to witness high growth over the forecast period owing to the increasing number of people seeking IVF treatment for fertility related problems and increasing awareness of preimplantation genetic testing being for avoiding birth defects among babies. Increasing adoption of preimplantation genetic testing in the developed and emerging countries is expected to create healthy growth opportunities for the market participants in the global preimplantation genetic testing market

Preimplantation Genetic Testing Market: Region wise Outlook

Geographically the global preimplantation genetic testing market is segmented into seven key regions: North America, Latin America, Western Europe, Eastern Europe, Asia Pacific excluding Japan (APEJ), Japan and Middle East and Africa (MEA).

Geographically North America and Western Europe are expected to dominate the market for preimplantation genetic testing owing to high awareness among the people and presence of several end users providing preimplantation genetic testing services. APEJ is expected to be the next lucrative market. Latin America and MEA regions are also expected to witness significant growth in the preimplantation genetic testing market. The growth of preimplantation genetic testing market is mainly dependent on resolving the ethical restraints involved and introduction of effective regulations for ethical use of technology in various regions.

Preimplantation Genetic Testing Market: Market Participants

Some players in the preimplantation genetic testing market are Abbott Laboratories, Natera, Inc., Illumina, Inc., Perkin Elmer, Inc. Thermo Fisher Scientific, Inc., F. Hoffmann-La Roche Ltd and others

The research report presents a comprehensive assessment of the market and contains thoughtful insights, facts, historical data, and statistically supported and industry-validated market data. It also contains projections using a suitable set of assumptions and methodologies. The research report provides analysis and information according to categories such as market segments, geographies, types, technology and applications.

The report covers exhaustive analysis on:

Market Segments

Market Dynamics

Market Size

Current Trends/Issues/Challenges

Competition & Companies involved

Value Chain

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Regional analysis includes:

North America (U.S., Canada)

Latin America (Mexico. Brazil)

Western Europe (Germany, Italy, France, U.K, Spain, Nordic countries, Belgium, Netherlands, Luxembourg)

Eastern Europe (Poland, Russia)

APEJ (China, India, ASEAN, Australia & New Zealand)

Japan

Middle East and Africa (GCC, S. Africa, N. Africa)

The report is a compilation of first-hand information, qualitative and quantitative assessment by industry analysts, inputs from industry experts and industry participants across the value chain. The report provides in-depth analysis of parent market trends, macro-economic indicators and governing factors along with market attractiveness as per segments. The report also maps the qualitative impact of various market factors on market segments and geographies.

Report Highlights:

Detailed overview of parent market

Changing market dynamics of the industry

In-depth market segmentation

Historical, current and projected market size in terms of volume and value

Recent industry trends and developments

Competitive landscape

Strategies of key players and product offerings

Potential and niche segments/regions exhibiting promising growth

A neutral perspective towards market performance

Must-have information for market players to sustain and enhance their market footprint

NOTE All statements of fact, opinion, or analysis expressed in reports are those of the respective analysts. They do not necessarily reflect formal positions or views of Future Market Insights.

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Preimplantation Genetic Testing Market Growth in Technological Innovation, Competitive Landscape Mapping the Trends and Outlook - Wolf Mirror

Tickets to the Pulaski County Extension Homemakers annual tasting luncheon will go on sale Tuesday, October 1, at 8:00 o'clock at the Extension Office. This big event will be held on Friday, November 15, with seating at 12:00 noon. The cost is $20, which includes the tasting of lots of new foods and a recipe booklet of all items served. The seating to the luncheon is limited so be sure to buy your ticket or tickets soon. To make sure that all persons are treated equally, advanced sales or call in orders are not accepted. However one person can purchase as many tickets as needed starting Tuesday Morning, October 1. The "Pumpkin Kisses and Holiday Wishes" theme will be held at the Langdon Street Baptist Church Activity Center at 103 Langdon Street.

The Pulaski County Extension Homemakers Bazaar will be held at the Somerset Mall this year. The bazaar "Pumpkin Kisses and Harvest Wishes" will be held on Saturday, November 23, starting at 10:00 o'clock. Tables will be rented to those people wanting to sell their crafts, art work, pieced goods, baskets, quilts, wood crafts, knitting and crocheting items, etc. Tables are rented for $10 each to Homemaker members, or $25 each to non-members. Participants are not allowed to bring in their own table. Come by the Extension Office to rent your table.

Another homemaker year has begun. Extension Homemakers are encouraged to pay their dues to their secretary or treasurer who will turn in their dues to the Extension Office. Mail box members and other interested persons wanting to join the homemaker, can pay at the Pulaski County Extension Office. Dues are $11 yearly and membership is available to everyone.

If you are a female over 50 years of age do you have Ovarian Cancer Screening yearly? September is Ovarian Cancer Awareness Month. One of the reasons that ovarian cancer is so deadly is that in its early stages, it rarely causes any symptoms. Yet ovarian cancer causes more deaths each year than any other cancer of the female reproductive system. Ovarian cancer awareness and screening is of utmost importance for all females.

The Pulaski County Extension Homemakers, and all of the other 119 Kentucky County Extension Homemaker Groups, donate money every year to University of Kentucky Ovarian Screening program. This research program encourages all women over the age of 50 to have an Ovarian Screening yearly, and it is a free health screening. You don't have to be a member of the Extension Homemakers for this service. For information about UK Ovarian Cancer Screening Program, or to make an appointment, call 1-800-766-8279. Ovarian screening is also available at the Pulaski County Health Department, but you call the number listed above to make an appointment for Lexington or Somerset.

The American Cancer Society estimates that in 2019 about 23,000 women will get a new diagnosis of ovarian cancer and about 14,000 of them will die from it. In Kentucky the ASC estimates about 280 women will be newly diagnosed with ovarian cancer, and 190 will die from it. Women from every county in the state have participated in the screening. You may be one that needs to be participating too.

Ovarian cancer is deadly and sneaky. When detected early, it is often curable, but most women who have it don't have any symptoms until it has progressed to an advanced stage, when survival is unlikely. Screening and early detection are critical to saving lives.

The exact causes of ovarian cancer are unknown. We do know that the risk for developing is linked to several factors. Age is a major one with women 50 years of age and older being at a higher risk. Women who have a documented family history of ovarian or breast cancers are more likely to develop the disease. Through genetic testing, which you must request, if a woman has a BRCA1 or BRCA2 mutation she has a higher chance of developing both ovarian and breast cancers. (BRCA1: a gene that normally acts to restrain the growth of cells in the breast but which, when mutated, predisposes to breast cancer)

Other factors linked to the disease include an early age of beginning menstruation, late age at natural menopause, endometriosis, infertility or not bearing children, obesity, and hormone replacement therapy. A lowered risk of ovarian cancer also appears to be a benefit of both bearing children and breast-feeding.

How is ovarian cancer treated? Initial treatment is surgery to remove one or both ovaries and fallopian tubes, depending on the stage of the disease. Some patients may require a hysterectomy and some may need chemotherapy. The disease is highly curable if detected early so if you are over 50 years of age, begin your screening today. The University of Kentucky Ovarian Cancer Screening Program offers free screenings via transvaginal ultrasound to all Kentucky women over age 50 and women over 25 with a documented history of ovarian cancer.

In Kentucky there are six sites that offer this free screening from UK. Call 1-800-766-8279 to schedule your appointment. The Kentucky Extension Homemakers and the Telford Foundation provided the initial funding for the program, and continue to support it today.

Educational programs of Kentucky Cooperative Extension serve all people regardless of economic or social status and will not discriminate on the basis of race, color, ethnic origin, national origin, creed, religion, political belief, sex, sexual orientation, gender identity, gender expression, pregnancy, marital status, genetic information, age, veteran's status, or physical or mental disability.

It's fall and time for fall food. Enjoy this salad today.

Fall Harvest Salad

5 cups torn leaf lettuce

2 cups spinach leaves

1 medium red apple, chopped

1 medium pear, chopped

4 teaspoons lemon juice

cup dried cranberries

cup feta cheese crumbles

cup chopped walnuts

Dressing

2 tablespoons olive oil

2 tablespoons balsamic vinegar

1 teaspoons Dijon mustard

2 teaspoons honey

teaspoon salt

Will yield: 8 1 cup servings

Combine leaf lettuce and spinach leaves in a large salad bowl. Mix apples and pears with the lemon juice in a small bowl and add to the lettuce mixture. Prepare the dressing by whisking together the olive oil, balsamic vinegar, mustard, honey and salt. Pour over the lettuce mixture and toss to coat. Sprinkle the salad with cranberries, feta cheese and walnuts. Serve immediately.

Events at the Extension Office

Join Denise Salter at the Extension Office on Monday, September 23, at 10:00 o'clock for a free Card Making Class. Learn how to save money by making your own beautiful cards. This group will be meeting in the basement of the Extension Office, Room B.

The Pulaski County Extension Homemakers Council will meet on Monday, September 23, at 11:30 for their by-monthly meeting. Lunch will be provided.

Monday, September 23, you are invited to attend a class on "Addiction 101" at the Extension Office starting at 1:00 o'clock. Addiction to drugs or alcohol is one of the most complex, baffling and heartbreaking conditions in the world. Most people know at least one significant person in their lives who has been affected. Christy Guffey, the FCS Agent in Clinton County, will be conducting the class that is opened to all interested persons.

Just Among Friends Extension Homemakers Club will meet on Thursday, September 26, at 1:00 o'clock at the Extension Office.

Attention All Quilters: The First Baptist Church on Main Street in Somerset, Kentucky will be offering quilters the opportunity to have their antique quilts photographed and documented by the Kentucky Heritage Quilt Society. All documentation of antique quilts is stored at the Western Kentucky University. This service will be available Friday and Saturday, October 18 and 19 in the Bridge Area of the church. Call the Pulaski County Extension Office to schedule your appointment for this service at 679-6361.

Link:
'Holiday Tasting' will be Saturday, November 23 | Lifestyles - Commonwealth Journal's History

The Hinckley Institute Radio HourThis week on the program, we bring you a forum on the Abuelas de la Plaza de Mayo, a group formed in 1977 to locate and reunify with their grandchildren disappeared during the Argentinian dictatorship. This organization of women championed a matriarchal politics and began a legal, psychological and scientific movement to address the injustices and intergenerational traumas of the past. Critical to this effort was the combination of humanitarian justice, cutting edge genetic testing and international scientific exchanges that found 128 of the lost children.

This movement stands out as one in which the quest for human rights fueled scientific development and technological advancement. The genetic research conducted in Argentina would go on to advance the global study of genetic and forensic testing, popularized today by DNA testing companies like 23andMe and AncestryDNA. For their work in defense of human rights, the Abuelas de la Plaza de Mayo received the Flix Houphout-Boigny Peace Prize in Paris in September of 2011.

Giving the talk is Alexandra Minna Stern, Professor and Chair of American Culture, Professor in History, Womens Studies, Obstetrics and Gynecology in the College of Literature, Science and the Arts at the University of Michigan.

This forum was presented by the International Studies Programs Health, Medicine, and the Environment Lecture Series and made possible thanks to the support from the Center for Latin American Studies.

This forum was recorded on April 8, 2019.

Podcast: Play in new window | Download (57.0MB)

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Related

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Genetics and Justice: DNA Identification Technologies in Post-Dictatorial Argentina - KCPW

A new study has shown the power of genetic testing to pick out the best drugs for children with cancer to extend and improve their lives signalling a new era of precision medicine for young patients.

The pilot including more than 200 children found that half had gene mutations that are targetable by adult cancer drugs that are either available as standard treatment or via clinical trials.

Although few children on the study went on to receive adult drugs, those who did receive targeted therapies had significant benefits.

But the study also laid bare the regulatory and funding barriers to children receiving the newest drugs, as only 7 per cent of those with targetable mutations were able to access the appropriate adult drug.

The study was led by The Institute of Cancer Research, London, andThe Royal Marsden NHS Foundation Trust, and offered genetic testing of tumours to children as part of a clinical trial. Some 20 additional hospitals around the UK participated by sending childrens biopsies in for testing.

The research ispublished in theEuropean Journal of Cancertoday (Thursday) and was primarily funded by the parent-led charityChristophers Smileand theNIHR Biomedical Research Centreat The Royal Marsden and The Institute of Cancer Research (ICR).

Researchers used a gene panel test to read the DNA sequence of 91 genes that drive cancers growth and spread from 223 childrens tumour biopsies looking for potentially targetable mutations.

Solid tumours such as those of the brain, central nervous system, bone and muscle are rare but have much worse survival rates than childrens blood cancers such as leukaemia. Surgery is often not possible and treatment is limited to blunt instrument chemotherapies.

The researchers first validated the panel test, showing it to be than more than 99 per cent sensitive at picking up the 91 mutations, even with just 50 nanograms of DNA which is around 1,000 times less than the weight of a grain of table salt.

Using the test, they found 51 per cent of tumour samples tested had mutations that could be targeted by adult cancer drugs.

The most common potentially treatable mutations were in the genes ATRX, CDKN2A and CTNNB1 which were each found in 12 childrens tumours. MYCN mutations were found in 11 tumours and PI3K3CA mutations in 10 tumours.

Three children had BRAF gene mutations which are common in melanoma skin cancers and can be treated using a combination of the drugs dabrafenib and trametinib.

Using these melanoma drugs, one of the children had their brain tumour held in check for 13 months before developing resistance. Another was on the drug for nine months with no progression of disease. The third child couldnt tolerate the combination but had a response to dabrafenib for 15 months.

But there are still challenges to overcome, since the majority of children with targetable mutations didnt receive adult drugs because there was no trial available for the drug in children, they were unable to access the drug on the NHS or they were too ill to receive an experimental treatment by the time they were tested.

For eight of the patients, there were samples available at diagnosis and after treatment and in six of those, testing revealed that the cancer had acquired new mutations as it evolved in response to treatment. That highlights the need to take an additional biopsy at relapse to search for targetable mutations.

For 12 of the children, the researchers were also able to test for cancer gene mutations in DNA released from tumours into the bloodstream from a blood sample. They found blood tests picked up almost all of the mutations found in the tumour, and in some cases they also found extra mutations which were not detected in the tumour region biopsied.

In future work the researchers will use serial blood tests to monitor how tumours evolve in response to therapies which will be particularly useful in hard-to-biopsy tumours.

Additionally, for children with brain tumours, the researchers are now looking at using samples of cerebral-spinal fluid to find drug targets. Although lumbar punctures are invasive, they are less so than a brain biopsy.

Study author Dr Sally George, Clinical Research Fellow at the ICR and Consultant Paediatric Oncologist atThe Royal Marsden, said:

Children deserve the very best cancer treatments, so they can live as long as possible and as well as possible. We desperately need better, more intelligently designed treatments which can give children longer with their families with fewer side effects.

By testing tumours for specific gene mutations, we have shown its possible to identify new smarter, kinder treatment options for children, which may potentially give these patients much longer with their families after conventional therapies have failed.

But our study also exposes the desperately frustrating barriers that children still face in receiving new treatments barriers which lie in the regulations controlling how drugs for children are developed and approved.

Study leaderProfessor Louis Chesler, Professor of Paediatric Cancer Biology at the ICR, and Consultant at The Royal Marsden, said:

Our study has demonstrated that we have the scientific knowledge and technology to get children access to state-of-the-art testing and treatments. And because our testing currently only assesses a focused set of well-known and clinically meaningful mutations, it is more practical, faster and more cost-effective than looking at the whole genome.

In future, I want to be able to treat more children whose tumours have these targetable mutations with better drugs, as currently not all children have access. But gathering the molecular data is the first practical step to making this possible. This data, and more that we are continuing to collect, will be good evidence to more clearly guide use of the most appropriate drug for each child.

It is also very important that we extend very robust and detailed testing to children at time of diagnosis, so we can more accurately classify and treat these cancers in the first place. We will also be looking at the utility of the approaches for detecting cancer relapse, a very important area where we currently have few tools to anticipate what treatments may be required with adequate time to do so.

Dr Mike Hubank, Head of Clinical Genomics at The Royal Marsden and Reader in Translational Genomics at the ICR, said:

The next steps for testing will be to look at using liquid biopsies to detect targetable tumour mutations without having to rely on invasive biopsies to get the information.

Our early results, presented here, show that we can detect more mutations in blood than we do in conventional biopsies. It is probably in the blood that we get a more complete picture of the whole tumour, and not just the small part of the tumour that was removed for testing. Blood-based testing will also allow us to monitor tumour response to treatment and may be able to detect relapses early, offering the possibility of finely tuned, personalised treatments in the future.

Karen Capel is the founder and trustee of UK childrens cancer charityChristophers Smile, who funded the development of the test. Karen and her husband Kevin have campaigned tirelessly to improve the treatment for children with cancer after their son Christopher died from medulloblastoma in 2008. Karen said:

When our son died there was no biological information available to doctors about individual childrens tumours. There is an urgent unmet need to provide new treatments for those children diagnosed with the most aggressive and hard-to-treat cancers.

This test Professor Chesler and colleagues at the ICR developed is a first for children. We believe gene sequencing is the key foundation stone in enabling personalised medicine, and it will help to bring new treatments for children a step closer.

Building on the foundations of the sequencing test, blood tests could provide critical information for any child from diagnosis throughout their treatment and into remission opening the door for additional, continued or changed treatments. We are determined to fight for these liquid biopsies to become standard of care at the earliest opportunity.

Reference: George, et al. (2019) A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations. EJC. DOI: https://doi.org/10.1016/j.ejca.2019.07.027

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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The Power of Genetic Testing Picking Out the Best Drugs for Children With Cancer - Technology Networks

If you found out today you were at a high risk of being diagnosed with Alzheimers disease, what would you do? Crawl under the covers? Take that exotic vacation? Wish youd never found out?

Or would you change the way you live?

When a genetic test revealed that Jamie TenNapel Tyrone had a 91 percent chance of developing Alzheimers, she slipped into a deep depression. She thought about suicide.

Tyrone had been worried about multiple sclerosis. Thats why she took the test, to see if she had any of the genes associated with MS following some neurological symptoms. At 49 years old, Alzheimers disease wasnt anywhere on her radar.

I was devastated, Tyrone said. She was also critical about the way the 2009 study was designed, without genetic counseling before or after, leaving her completely unprepared for the shock of her results.

Then she surprised herself. She wrote a book about her experience to guide others through the pros, cons and pitfalls associated with genetic testing. It was co-written with geriatric neurologist Marwan Noel Sabbagh.

I think people now can get commercial genetic testing (services) like 23andMe and not understand the consequences of what theyre getting tested for, Sabbagh said.

Fighting for my Life: How to Thrive in the Shadow of Alzheimers describes the emotional journey Tyrone went through after participating in genetic testing as part of a research study 10 years ago.

The basis for the study was to find out if, or how people would change their lifestyle if they knew they had a high risk of disease by using genetic testing. The research showed that knowing the risk of disease did not lead to significant lifestyle changes.

Without the counseling, Tyrone said she felt abandoned by researchers when she found out she has two copies of the apolipoprotein E4 gene, which is linked to an increased risk for Alzheimers.

Afraid of the stigma associated with the disease, she avoided discussing her results at first, fearing that shed be discriminated against or ostracized.

There are laws that protect people from certain forms of discrimination related to genetic information, but theyre not all-inclusive.

The Genetic Information Nondiscrimination Act protects individuals from being denied health insurance or charged higher premiums based only on the genetic predisposition to a disease. It also means that employers cant make decisions to hire, fire, segregate or otherwise mistreat employees based on the results of genetic testing.

But it doesnt protect access to long-term care, life or disability insurance.

For three years I didnt talk about it and I became very depressed, said Tyrone, who lives with her husband in Ramona. I contemplated not being in the world.

After years of depression, suicidal thoughts, therapy and being diagnosed with post-traumatic stress disorder, Tyrone now volunteers as a research collaborator, or what she calls a lab rat. She wants to help scientists find a cure for the disease and hopes that participating might help her to prevent the onset of the disease, or cure her someday if needed.

The first person cured of Alzheimers disease is going to be a research participant, Tyrone said, paraphrasing UsAgainstAlzheimers founder George Vradenburg.

If she had it to do over again, would she take the test? Tyrone said she probably wouldnt.

I truly believe that if I had genetic counseling during the consent process, I would have chosen not to be tested, she said.

Even still, Tyrone said finding out about her risk has been a gift in some ways because it prompted her to help others through public speaking and writing her book. She hopes her story can help people to decide if and when to take genetic tests in search of potential health risks.

Co-author Sabbagh said he generally advises that genetic testing only be done if there are already symptoms present. He also suggests working to increase brain health early on before memory loss symptoms begin.

The fact is that by the time you come into the office to get seen for your memory issues, the changes in the brain have been accumulating for a long time, he said.

Now 59, Tyrone said shes cognitively healthy, but still searching for answers to the mysterious neurological issues that led her to the testing in the first place.

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When genetic testing goes sideways: One woman's cautionary tale - The San Diego Union-Tribune

The agency has expressed worry that unsupported claims about gene-drug links could be dangerous if they spur patients to start, stop, or switch medications in inappropriate ways. But the American Clinical Laboratory Association says the warnings could stifle a burgeoning industry.

Stat:Groups Push Back Against Troubling FDA Crackdown On Genetic TestsIn recent weeks, the genetic testing world has been rattled by the Food and Drug Administrations efforts to quietly pressure a number of companies to stop reporting results to patients about how their genes may interact with specific drugs. Now, increasingly, the industry is pushing back. On Wednesday, a trade group that represents clinical laboratories sent a sharply worded letter to the agency calling its enforcement actions troubling and inappropriate. The letter, from the American Clinical Laboratory Association, warned that the agencys actions could stifle the growth of a burgeoning industry and make it harder for patients to get the right types and doses of their medications. (Robbins, 9/18)

In other news on the FDA

Stat:FDA To Modernize Its IT And Make More Efficient Use Of DataDr. Amy Abernethy, the principal deputy commissioner at the Food and Drug Administration, is unveiling a three-point plan to radically redirect the agencys efforts at using computer technology. At a Wednesday meeting held by Friends of Cancer Research, a patient advocacy group, Abernethy, who is also the FDAs acting chief information officer, plans to outline how regulators can move more of their work to the cloud virtual servers and automate work that is now done by hand. This, she said, could change the way that the agency interacts with the companies it regulates. (Herper, 9/18)

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FDA's Warnings Over What Genetic Testing Companies Can Report To Patients Deemed 'Troubling' By Industry Group - Kaiser Health News

Federal authorities warn of a telemarketing scam that offers "free" cancer screenings that lead to Medicare fraud. Federal authorities warn of a telemarketing scam that offers "free" cancer screenings that lead to Medicare fraud. Related stories

FORT MYERS, Fla. - Federal investigators call it the latest scheme targeting consumers on Medicare and it all begins with claims of free screening for cancer.

Tammy Rose fears her 83-year-old mom, who lives in Sebastian, recently fell for the scam after receiving a call from a telemarketer.

"They started asking her questions like what did your mother die from? What did your father died from? What's your family history?"

Tammy's mom has heart issues, cancer runs in the family so when the telemarketer pitched free cancer screening, her mom bought in. A package of q tip swabs and a dispenser arrived a few days later.

"She was to swab one cheek corner and then swab the other cheek corner," Tammy said. Her mom was directed by the company to place the swabs in separate bags and send it back to the facility, which she did. A few days later, Tammy received a frantic call from her mom.

"My mom called me crying saying she just saw something on TV saying it was a fraud," she said.

On the west coast of Florida, complaints about fraudulent DNA cancer screening is now the number one call at the Area Agency on Aging for Southwest Florida says senior advocate Camalita Aldridge.

"We're seeing more and more of these cases. There are various forms of the scam. Folks can receive these kits at home whether they're solicited or not," Aldridge said.

Aldridge says companies who do this fraudulently are targeting Medicare patients by telling them each screening is free. These companies are screen patients for which cancer or genetic testing is not medically necessary and/or not ordered by the beneficiary's doctor. But every DNA screening test represents an opportunity to cash in since Medicare (taxpayers) will pay for it. Each screening can range from $10,000 per test to upwards of $30,000 says Aldridge.

"They work on someone fear," she said. "If a consumer thinks that if I can know ahead, diagnose and then treat, then I might prevent [cancer], scammers know this so that's what they do," she said.

While legitimate DNA cancer screening can be helpful for some people who qualify, experts advise any health screening should take place at your doctor's office and be approved by your own doctor not a stranger.

Cole Buckley of Fort Myers showed us several flags and fliers he had made for what he thought would be a lucrative DNA cancer screening business.

"I was going to be the man on the ground," he said. "I was going to go to different things like health fairs, flea markets and set up a booth where we can pre-screen people," he explained about the pitch he heard about in January.

Buckley said the company, which no longer offers DNA screening, told him to only target seniors on Medicare and a company doctor, who Buckley never met, would approve each test. Buckley said he spent $200 to sign on with the company and another $1000 in marketing for the flags, fliers and business cards he had made which all tout "free DNA cancer screening." But in the end, he said, the company pulled out and never sent him any cancer screening kits. Buckley said he felt duped.

"I thought I was going to make a lot of money," he said. When asked how much, Buckley said he was told by the company it would be "thousands per month."

Tammy Rose's mother doesn't know yet if Medicare was charged for her screening. She hasn't received any results from her so-called "free" screening but she did file a police report and Tammy reported the company to Medicare knowing if her mother fell for it, chances are, thousands of others are doing it too.

"I'm angry that my mother was targeted. Someone's getting rich off this and they need to be in prison," she said.

How to protect yourself from falling victim to "free" cancer screening - If a genetic testing kit is mailed to you, don't accept it unless it was ordered by your doctor or return it to the sender. - Keep a record of the sender's name and date of your returned items. - Be suspicious of anyone who offers you "free" genetic or cancer screening and then requests your Medicare number. - Be cautious of unsolicited requests for your Medicare numbers. Don't provide your Medicare information to anyone you don't know.

- If you suspect Medicare fraud, contact the Office of the Inspector General.

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Genetic testing latest target for fraud - KTVZ

DENVER Sisters Marcy and Elissa Newman have always known they had strong familial ties to breast and ovarian cancer.

Our grandmother was a two-time breast cancer survivor, and we had several aunts that had breast cancer and had passed away, Marcy said.

Even so, the sisters only got tested for the BRCA gene after Marcy was diagnosed with ovarian cancer at the age of 47. The gene, often known as the breast cancer gene, actually raises the risk for multiple types of cancer.

When Marcy found out she was BRCA1 positive, she called her sister.

As we were hanging up the phone she said, 'By the way, Im BRCA1 positive, and you have a one in two, or 50 percent, chance of having the gene,' Elissa said.

She said she was encouraged to get tested even earlier in life because of her family history, but at the time, insurance laws allowed companies to discriminate based on a pre-existing condition.

Thats no longer the case, but genetic counselor Lisa Mullineaux said people are still fearful of getting genetic testing for other reasons.

They may not be ready to know that they have an increased risk, or theyre not ready to take action, said Mullineaux.

Some people who find out they have the BRCA gene may simply opt for additional screenings or may take birth control pills to reduce their ovarian cancer risk. But Elissa decided to take more extreme action. She had her ovaries, Fallopian tubes, uterus and breasts removed.

To reduce my risk to that of the natural population, was well worth it, she said.

Elissas 20-year-old will soon get tested for the BRCA gene, because men who have the gene face an increased risk for prostate, pancreatic and other cancers.

The United States Preventative Services Task Force recently updated the recommendations for BRCA1 and BRCA2 testing to include more of the population. And since its now considered preventative, the testing may be covered by insurance.

Marcy is celebrating 5 years as an ovarian cancer survivor, but wishes shed been told about all her options earlier.

I would have expected an expert who knew my family history would have had me take additional steps and screenings, she said. Now, I know we have to advocate for ourselves and educate others.

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Sisters encourage women, men to get tested for cancer gene - The Denver Channel

CHICAGO (CBS) The price of DNA testing to see if we are genetically more likely to develop certain health complications is dropping, but the benefits are still out of reach for many who cant afford it. One area hospital is now offering the tests free of charge to help patients better prepare for the health risks ahead.

CBS 2 Morning Insider Vince Gerasole took the test and shares the changes he now has to make in his life.

The world of genetic testing can save lives, helping patients detect mutations in their DNA that could lead to certain types of cancers and other medical complications.

The benefits, they can be many, said Dr. Peter Hulick, medical director of the Mark Neaman Center for Personalized Medicine at NorthShore University HealthSystem.

Youve seen the commercials; once costing thousands of dollars, DNA tests are now marketed to the masses at prices a bit more reasonable, most near $200. Its still a price not all can afford; minorities, especially, have been under-represented in the populations taking the tests.

Thats part of the reason why we opened this to our primary care network, so anyone of any ancestry can have access to this information, Hulick said.

NorthShore University HealthSystem is now providing DNA screening free of charge through a program called DNA 10K.

It aims to make interpreting the results and taking action if necessary part of standard health care.

What it allows us to do is to make a better plan, so that you can be proactive with this information so that we can get you on the right screening and prevention path, Hulick said.

CBS 2s Vince Gerasole participated in the process. Following a quick blood draw, his sample was sent to the labs at health technology firm Color. In a few weeks, a genetic counselor reviewed his results by phone.

The results included a significant red flag: several women in Gerasoles immediate family have died from breast cancer, so it was not much of a surprise that he tested positive for the BRACA 1 mutation, making him more likely to develop male breast cancer, as well as pancreatic and prostate cancer.

Genetics is not a crystal ball. It doesnt predict your life. It doesnt tell you when or exactly if something is going to occur, Hulick said.

However, the results can help patients consult with their doctors and make choices ranging from lifestyle to more frequent medical screenings to preventative surgeries like breast removal.

Its not destiny. Genetics isnt destiny, Hulick said.

But if available to more patients, it could be destined to help.

Call 847-570 GENE (4363) to learn how you can participate.

Originally posted here:
DNA Testing Can Help Detect Possible Health Risks; Genetics Is Not A Crystal Ball - CBS Chicago

16 September 2019

Seventeen former employees of a genetic testing company, Orig3n, have accused it of not meeting scientific standards and returning inaccurate results.

In an interview with Bloomberg Businessweek, the employees, who had previously been managers, lab technicians, software engineers, marketers, and salespeople, said that the company's test results could not be replicated for the same person. The company, based in Boston, Massachusetts, allegedly built software to automatically return the initial outcome if a repeat analysis did not match. A technician has reported a document of 407 such errors over a period of three months from fewer than 2000 tests.

'Accurate science didn't seem to be a priority,' a former lab technician told Bloomberg. 'Marketing was the priority.'

Orig3n's genetic tests, costing between US$28 and $298, are used to advise customers on lifestyle choices and help them to identify their genetic predispositions and the 'superhero traits' that they are most likely to have.

The employees claim that the advice provided to customers was often generic good health practice collected from the internet or had limited scientific evidence. Examples included eating kale, wearing sunglasses, or eating sugar and almond oilto reduce stretch marks.

Co-founder and CEO of Orig3n, Robin Smith, said the company 'wholeheartedly' disputed these assertations. He said the company has operated under the Clinical Laboratory Improvement Amendments (CLIA) - US federal testing regulations to ensure proper practice, since November 2017 and that many of the claims concern a period before this.

'Orig3n had to change many of its laboratory staff precisely because they simply wanted to "do things their way", rather than in compliance with CLIA,' he said. He also offered to review any tests if customers have concerns. The former employees were at the company between the summer of 2015 and autumn 2018.

Orig3n was previously singled out as part of an NBC Chicago investigation into genetic testing in 2018. When the reporter submitted genetic material from a Labrador retriever called Bailey, the company produced a seven-page report about her genetic traits, stating that she had strong muscle force and cardiac output for long endurance, while failing to note that she was not a human. Other companies said that the genetic material was 'unreadable'.

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DNA company accused of fudging people's genetic test results - BioNews

--(BUSINESS WIRE)--Wolters Kluwer Tax & Accounting:

What: In recent years when presented with the opportunity, the Internal Revenue Service (IRS) has identified a number of expenses as qualifying medical expenses for purposes of the itemized deduction for medical expenses or for qualified distributions from health savings accounts or flexible spending accounts. These have included smoking cessation programs, weight loss programs, and gluten-free products for celiac disease. Now, in a private letter ruling, the IRS has spelled out the circumstances under which genetic testing might qualify as a medical expense.

Why: While private letter rulings cannot be relied upon by taxpayers other than the taxpayer to whom it was issued, the ruling on genetic testing does indicate the IRS thinking on the matter and how they might treat similar situations:

Who: Federal tax expert Mark Luscombe, JD, LL.M, CPA, Principal Federal Tax Analyst at Wolters Kluwer Tax & Accounting, is available to discuss these developments with respect to genetic testing and qualified medical expenses in general.

PLEASE NOTE: The content of this article is designed to provide accurate and authoritative information in regard to the subject matter covered. The information is provided with the understanding that Wolters Kluwer Tax & Accounting is not engaged in rendering legal, accounting, or other professional services.

Contact: To arrange interviews with Mark Luscombe, other federal and state tax experts from Wolters Kluwer Tax & Accounting on this or any other tax-related topic, please contact:

MARISA WESTCOTT212-771-0853marisa.westcott@wolterskluwer.com

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MEDIA ALERT: IRS Approves Medical Expense Deduction for Genetic Testing - Business Wire

The ConversationSep 21, 2019 16:50:49 IST

Dramatic developments in genetics research and the availability of commercial genetics tests have put us in a very modern predicament we can now find out (quickly, easily and cheaply) whether we personally hold genetic risk factors that put us at a substantially increased risk of Alzheimers disease. In addition, we have recently shown that brain changes can be identified in people holding these genetic risk variants as early as 20 years old.

Should we be testing ourselves? Should we worry? No. Heres why:

Representational image credit: StunningArt/Shutterstock

Genetic research has revealed that some individuals carry variants of specific genes that confer an increased risk of developing Alzheimers disease in later life. For example, carriers of the 4 variant of the APOE gene are approximately three to eight times more likely to be diagnosed with Alzheimers disease after age 60 than individuals without this variant. The more variants, the greater the risk with a maximum of one inherited from each parent.

In our recent research, we looked at these genetic factors in young people (around 20 years old, on average). We split them into higher-risk and lower-risk groups depending on whether they did or did not carry the APOE-4 gene variant, respectively.

Using advanced brain imaging techniques, we were able to show that it is possible to detect subtle differences in particular brain networks for the higher-risk young adults, several decades before any clinical symptoms of Alzheimers emerge.

While brain structure and function were significantly different between the risk groups on average, it is very important to point out that not all higher-risk individuals go on to develop Alzheimers disease. (Note that we say higher not high risk.)

The brains of many of these individuals were comparable to those at lower risk. This means carrying a higher-risk gene variant does not necessarily lead to early brain changes, or an Alzheimers diagnosis later in life.

Public interest in genetics and gene testing is booming. Recent times have also seen highly publicised incidences of people responding to their own genetic risk with drastic interventions. For instance, Angelina Jolie, who has a faulty copy of the BRCA1 gene, associated with breast cancer and had elective surgery to remove both breasts and some of her reproductive organs.

Direct to consumer genetic testing kits sold by companies now provide people with convenient and affordable access to their personal genetic information, including their genetic risk for specific diseases, including Alzheimers.

But the relatively low cost of these tests reflects the fact that they typically only cover a fraction of the genome. The results, therefore, neglect the contribution of the rest of the consumers genetic code. This will include other genes with protective, as well as negative, effects.

Oral swaps and saliva samples are used by Direct To Consumer commercial genetic tests. image credit: B-DSPiotrMarcinsk/Shutterstock

Of other concern, these tests have been shown to frequently generate false positive results: indeed, one study found approximately 40% of variants in a variety of genes reported in raw commercial genetic test data were false positives. This could lead to unnecessary distress, treatment and lifestyle adjustments. These tests also come with privacy and social concerns.

On the upside, the popularity of commercial genetic testing partly reflects consumers positive desire to be proactive about their health. Consumers concerned about commercial genetic test findings should, however, request confirmatory tests from their clinician. These consumers should also understand that the disease risk reports they have purchased at best provide a partial answer to the question they are trying to address, because disease risk is about much more than genetics alone.

The next step for our research is to find out what leads some people at higher-risk to go on to develop these early brain changes, but not others. Do these people exercise or sleep less, maintain a poorer diet, or have poorer social relationships? Many possible answers involve lifestyle factors that could potentially be altered to buffer individuals against their genetic risk.

The only way to properly understand which lifestyle factors may have such a protective effect is to study large numbers of people with varying degrees of genetic risk over several decades.

We are part of an international team of scientists undertaking one such study, led by Professors Kim Graham and Andrew Lawrence at Cardiff University. The project involves collecting advanced brain imaging and cognitive test data from a large group of approximately 240 young adults. These individuals are part of a cohort that has been studied since birth, so we can access a wealth of retrospective health and lifestyle data.

Can lifestyle factors like reading, exercise and socialising protect us from our genetic risks as we age? image credit: RomanSamborskyi/Shutterstock

Smaller, isolated studies looking at lifestyle factors might currently be missing the big picture. Brain differences have been found in these high-risk groups between people who do and dont exercise regularly. This could suggest exercise has a protective effect on the brain, and may, in turn, mitigate Alzheimers risk. It could also be that exercisers engage in other protective behaviours like eating a healthier diet. It is only with large-scale cohort studies that we can begin to disentangle the genetic and lifestyle contributions to cognitive performance, the brain and Alzheimers risk.

Finally, if you are considering making lifestyle changes to offset your genetic risk for Alzheimers, taking regular exercise and maintaining a healthy lifestyle is seldom bad advice. Other drastic lifestyle changes, however, are likely unjustified.

Mark Postans, Postdoctoral research associate, Cardiff University and Carl Hodgetts, Research Fellow in Cognitive Neuroscience, Cardiff University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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Alzheimer's Day: Carriers of risky gene show brain changes in its 20s but we don't need to worry - Firstpost