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Archive for the ‘Genetic Testing’ Category

Genetic testing threatens the insurance industry – The Economist


The Economist
Genetic testing threatens the insurance industry
The Economist
IF A genetic test could tell whether you are at increased risk of getting cancer or Alzheimer's, would you take it? As such tests become more accessible, more and more people are saying yes. The insurance industry faces a few headaches as a result.

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Genetic testing threatens the insurance industry - The Economist

Genetic Testing and Counseling for Breast Cancer Can Help Guide Decisions – Next Avenue

(Editors Note: This article is part of a collaborative reporting series between the American Cancer Society and Next Avenue. The series is exploring the state of genetic testing in breast cancer patients.)

After a routine mammogram in 2014 revealed a tumor in her right breast, Wendy Mayer was diagnosed with invasive lobular carcinoma. Fortunately, it had not spread. But her mother, her grandmother and a cousin had all had breast cancer, so on the advice of her doctors, Mayer underwent genetic testing.

I think waiting for those results may have been the most stressful part of this entire thing, the Washington, D.C.-area resident said. To her great relief, it showed she did not have a harmful mutation on either the BRCA1 or BRCA2 genes. (Mutations in these genes are linked to an increased risk for breast and ovarian cancers.)

That knowledge made Mayer, now 67, comfortable with her treatment decision. She had a lumpectomy, which allowed her to keep most of her breast. The alternative was what she said she would have probably chosen if she did have a mutation: bilateral mastectomy, the removal of both breasts.

Women newly diagnosed with breast cancer face so many unknowns: What does the diagnosis mean for my future? What kind of treatment is best? Did I inherit a high-risk gene? What effect will my cancer, if it is genetic, have on my children or grandchildren?

Genetic testing can answer some of those questions. But what precedes and follows that test is vital, experts say. Many women have been helped by genetic counseling, a detailed discussion by a trained professional of a womans specific circumstances.

Genetic testing is very complicated; its not a simple blood test, said Suzanne Mahon, a registered nurse and genetic counselor at Deaconess Cancer Center in St. Louis. The interpretation hinges not only on the test results, but also on the personal and family history.

Unfortunately, not everyone has equal access to such counseling. And research has shown that many women fail to get it because their doctor didnt suggest it, as noted in the first story of our collaborative reporting series with the American Cancer Society. Instead, most newly diagnosed women first see a surgeon.

Kathy Bressler is thankful that she had the benefit of counseling after her breast cancer diagnosis.

That was such a positive experience, said the 56-year-old Omaha hospital administrator. I felt really comfortable that we had done the latest testing and that it showed everything that there was to show at the time.

Genetic tests are far different now than they used to be. Previous tests looked for mutations on only the BRCA genes, but todays genetic tests can identify variations associated with breast cancer on 20 or more genes. The tests are also far less expensive now.

Like Mayer, Bressler also had a mother with breast cancer. But Bressler was relieved to learn through a genetic test about 15 years ago that she did not have any harmful BRCA mutations. Nevertheless, a sharp pain in her right breast in December 2015 led her doctor to recommend an ultrasound. It revealed a 1.7 cm lump.

A new genetic test showed no harmful mutations on any of the genes, but the breast biopsy revealed a darker result: She was diagnosed with triple-negative breast cancer, in which the three most common proteins involved in tumor growth are missing, thus ruling out several treatment options. Its the kind you dont want to have, she said.

Though her medical team encouraged her to choose a lumpectomy, also known as breast-conserving surgery, Bressler didnt hesitate: she wanted a bilateral mastectomy. I was 27 when my mom died, and I just knew I wasnt going to mess around, she said. I wasnt going to have mammograms every six months and worry and stress.

A subsequent test made her even more convinced that her choice was a good one: An examination of the breast tissue after mastectomy revealed three additional tumors.

Bressler said she always encourages other women to get genetic counseling and testing if they have any family history of breast cancer. I think it really helps women in their decision-making. Without that information before surgery, youre not making a completely informed decision, she said.

She also emphasizes early diagnosis through regular mammograms and other screening as appropriate. Bressler urges women to be aware of their own breasts and report any changes to their doctor. And she encourages everyone to help fund breast cancer research.

Thats where we learn about more of the genes that are indeed connected to breast cancer, and thats really important, she said. Were not done learning about what causes breast cancer.

Christine Thies, 48, of Austin, Texas, also chose a double mastectomy even though genetic testing revealed no harmful mutations. Her mother had died of breast cancer and Thies was diagnosed with it after a breast reduction surgery, when her tissue was tested.

Im not good with the unknown, she said. I tend to be pretty analytical, and for me, it was a numbers game.

But she would never describe her decision as something thats best for others.

Everyone has their own journey, and everyone comes to this decision differently, she said. There is no right answer. You just have to make an answer that is best for you.

Twin Cities Public Television - 2017. All rights reserved.

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Genetic Testing and Counseling for Breast Cancer Can Help Guide Decisions - Next Avenue

Mothers-To-Be Aren’t Told Enough About Genetic Testing | Time.com – TIME

Once upon a time, not so long ago, women got pregnant and spent nine months in suspense before finding out if they were having a boy or a girl. But today? That waiting game is completely outdated, even quaint.

Every aspect of pregnancy is now scrutinized and analyzed sometimes even beginning before egg meets sperm, as expectant parents gauge if they are carriers for diseases they could pass on to their offspring. Once pregnancy is established, there are tests as soon as the first trimester to assess chromosomes and identify tiny genetic deletions or duplications whose significance may be unclear.

Yet there tends to be a collective fiction that hovers around why this testing is offered at all. When providers explain genetic testing, they rarely if ever initiate a conversation about why a woman might want to consider testing in the first place. As a result, many women proceed with testing without fully considering why theyre doing it and, more significantly, what they will do if they dont receive the results for which they were hoping.

Its human nature to wax optimistic, to hope that test results will prove reassuring. But not every woman will receive comforting news. As testing becomes increasingly sophisticated, an increasing number of women will get results that arent black or white. Others will get results that are unequivocally concerning. Then what?

Well, even when that happens, turning the wonder and joy of pregnancy into a far more angst-ridden experience, knowledge is power.

This was my experience when I was pregnant with my third child. An ultrasound revealed a bubble of fluid on her brain that could indicate trisomy 18, a serious genetic condition thats often fatal before birth. That result spurred me to have an amniocentesis, which extracted fetal DNA via a long, thin needle inserted into my womb. Thankfully, the test results showed just two copies of chromosome 18, not three, which would have confirmed a diagnosis.

I was incredibly relieved, but then something strange and unexpected happened. The lab reports analysis of fetal DNA had revealed that my unborn daughters ninth chromosome was flipped the top was on the bottom, and the bottom had migrated to the top. It was, the report indicated, not associated with clinical effects. And still I worried. Over time, Ive come to terms with that snippet of genetic information, and now feel grateful that I know about this DNA blip. Should research emerge that its linked to risk of disease, at least Ill be aware and will be able to take advantage of any potential treatments. (P.S. My daughter, now 10, loves pandas, biking and gummy worms. She doesnt like cleaning her room. In other words, as far as I know, inversion 9 has dealt her no ill effects.)

There are other reasons why more information is better, too: A prenatal diagnosis of Down syndrome, for instance, could motivate parents to seek out support groups before the birth so that they can get a glimpse of what to expect. It might prompt them to switch hospitals to one where doctors have more experience delivering babies with special needs.

But despite this advantage, we still too often limit what women and families know. What you can learn can depend on where you are. While expectant moms in major metropolitan areas have access to the latest cutting-edge technology for prenatal testing, women in rural towns have far fewer choices. And even though it isnt surprising that abortion is the elephant in the exam room, we continue to do women a disservice by not openly discussing that abortion is one potential option in the aftermath of prenatal testing.

Knowing ahead of time may ratchet up the anxiety level of pregnancy far beyond that of previous generations. But all parents deserve to have this knowledge. It puts moms and dads in the drivers seat, which is a good place to be when it comes to parents and their progeny.

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Mothers-To-Be Aren't Told Enough About Genetic Testing | Time.com - TIME

SF’s Invitae to acquire two prenatal genetic screening firms – SFGate

By Catherine Ho, San Francisco Chronicle

Photo: Paul Chinn, The Chronicle

DNA is extracted from blood plasma for genetic testing. Two acquisitions announced Monday will expand Invitaes business to prenatal testing.

DNA is extracted from blood plasma for genetic testing. Two acquisitions announced Monday will expand Invitaes business to prenatal testing.

SFs Invitae to acquire two prenatal genetic screening firms

The San Francisco genetic testing firm Invitae Corp. plans to acquire two smaller companies that specialize in prenatal and reproductive screening, the company announced Monday.

The move is Invitaes first acquisition in the prenatal space, a fast-growing segment of the genetic testing industry.

The two acquired firms Good Start Genetics of Cambridge, Mass., and Irvines CombiMatrix specialize in testing pregnant women and fetuses for genetic abnormalities that may increase the likelihood of developmental problems in the child. The tests are ordered by obstetricians and reproductive endocrinologists for patients undergoing in vitro fertilization, or IVF. The testing can help determine, for example, whether a genetic disorder may be a contributing factor in recurrent miscarriages.

We view this as an important step into the reproductive side of genetics, said Invitae chief executive Sean George. This is us moving the industry from a test-by-test laboratory type of market to genetic information as a service moving across all stages of life.

Several other firms already compete in the prenatal genetic screening market, including South San Franciscos Counsyl, San Carlos Natera and San Diegos Sequenom, which is owned by the lab diagnostics giant LabCorp.

Prenatal screening has become more widely available in recent years, as the technology to screen for genetic abnormalities continues to advance rapidly. But some experts have cautioned against interpreting the results which can yield false positives without seeking the advice of a medical expert or genetic counselor.

Invitae was founded in 2010 and went public in 2015. It offers a wide range of genetic tests, including those that detect genetic variants linked to breast and ovarian cancer. Unlike direct-to-consumer genetic tests like those sold by 23andMe, these tests are ordered by a physician and increasingly are covered by major commercial health insurers.

The proposed acquisition of Good Start is expected to close in August, with the CombiMatrix deal following in the last three months of the year. CombiMatrix, which is publicly traded, reported $12.8 million in revenue for 2016. Good Start is privately held and does not disclose financial figures. Invitae reported $25 million in revenue last year.

The deal will merge the combined genetic information collected by all three companies. Invitae currently partners with biotech firms MyoKardia, BioMarin and Alnylam Pharmaceuticals to share patients genetic information, with their consent, to be used in the development of drugs to treat genetic disorders, including patients participation in clinical trials.

George said he expects to see more mergers and acquisitions in the genetic testing industry as the sector matures.

Thats exactly what you see in the 100-plus companies that supply genetic information, George said. These two are examples, and there are more that I would expect to see in the coming year companies that either cease to offer genetic testing services or who get bought by other companies as this industry scales up in volume and sheer number of people. I definitely expect that to continue.

Invitae stock closed at $9.28 on Monday, down 2.4 percent from Friday. CombiMatrix stock closed at $4.95, down 3.9 percent.

Catherine Ho is a San Francisco Chronicle staff writer. Email: cho@sfchronicle.com Twitter: @Cat_Ho

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SF's Invitae to acquire two prenatal genetic screening firms - SFGate

For Indian doctors, it’s written in the genes not stars – Economic Times

BENGALURU: When five-year-old Chathura Corea from Sri Lanka landed in India for cancer treatment, his physician Sachin Jadhav got a genetic test done on his blood sample before starting any kind of treatment. Corea had been diagnosed with a very rare form of blood cancer called Juvenile Myelomonocytic Leukaemia (JMML). After a genetic test, Jadhav concluded that a simple chemotherapy would not suffice and the kid needs a bone-marrow transplant".

The (genetic) test helped me identify what line of treatment to give providing maximising the chance of cure and in planning treatment better, says Jadhav, who has partnered with Bengaluru-based MedGenome Labs which provides genetic tests for a range of ailments like cancer, metabolic diseases, eye diseases, neurological and prenatal disorders.

Increasingly , doctors like Jadhav are asking patients to take genetic tests to identify 'faulty' genes in treating genetic diseases better.

MedGenome has seen the number of samples triple for genetic tests in of samples triple for genetic tests in the last one year.

We now get about 600-800 samples a month, said VL Ramprasad, COO of MedGenome Labs. The uptake is primarily due to increased awareness among clinicians in India who see a scope for better results and efficient treatment, he said.

Another lab, Stand Life Sciences has also seen a similar spike in the number of samples received.Strand has seen a 250% growth in the number of samples last year, and we have done about 5,000 samples this year, said cofounder Vijay Chandru. The science behind these tests is straight forward: everything about us -the length of our hair, the colour of our eyes, the complexion of our skin is coded onto the DNA -which also has hidden hints of the possible disease one might get. Scientists analyse the genetic code and figure out what mutation causes a specific disease. As the awareness among doctors increases, revenues have been surging. MedGenome revenues have doubled every year. The lab's revenues have grown from $4 million in 2015 to $16.5 million in 2017.

At this point, we are just scratching the surface, says Chandru of Strand life sciences, adding, The addressable market is 500,000 people according to India Council of Medical Research (ICMR) report. Say , 20% people can afford the tests... 100,000 peo ple could be tested. Right now, only 5,000 people are being tested.

These genetic tests cost about Rs 30,000- 40,000 for a single test. Only 2% of Indian population is covered by insurance. Hence, affordability is another bottleneck in the widespread adoption of genetic tests, said Chirantan Bose, VP of Clinical services at Medgenome.

Aside from providing insights to clinicians for better diagnosis, the milestone for genetic tests is `targeted therapy' for specific diseases. For instance, precision medicine in the treatment of cancer when the drug hits only the cancer cells and not the entire body (like in chemotherapy). Genetic testing paves way for precision medicine. Consumers too want to dig into their genes to know more about their family history , lifestyle tendencies and information about their ancestry .

Mapmygenome provides a report on 100 different conditions including inherited and acquired genetic health risks. The firm's product, Genomepatri, has found massive traction and the number of samples have tripled over the samples we received last year, says Anu Acharya, cofounder of Mapmygenome, adding that demand was not just coming from metros but even from tier-II towns across India.

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For Indian doctors, it's written in the genes not stars - Economic Times

Genetic Testing: Finding the cause of your infertility …

It is estimated that genetics are a contributing factor in up to 10 percent of couples who experience infertility or recurrent pregnancy loss, so it stands to reason that genetic testing has the potential to help many of those couples in their quest to have a family.

Genetic testing examines DNA, which has been called the chemical database that carries instructions for the bodys functions and can reveal gene changes that may cause illness or disease, including infertility. Since both men and women can have fertility issues, they can all benefit from genetic testing.

Identifying a genetic cause for your infertility can help you make the right decision on how to proceed by choosing the treatments that are most likely to help.

Additionally, genetic testing is advised before you have children if you or your partner has a family history of a genetic disorder, such as sickle cell anemia, Tay-Sachs disease or cystic fibrosis. Such testing can reveal if either or both of you carry a copy of an altered gene that would put a child at risk of developing the disorder.

A Board-Certified Reproductive Endocrinologist would make suggestions as to what blood tests should be ordered, which in most cases will follow the American College of Obstetrics and Gynecology (ACOG)'s recommendations.

If youre interested in learning more about genetic testing, contact us.

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Genetic Testing: Finding the cause of your infertility ...

Genetic testing: The new way to identify and train elite athletes? – USA TODAY High School Sports

USA TODAY High School Sports has a weekly column on the college recruiting process. Here, youll find practical tips and real-world advice on becoming a better recruit to maximize your opportunities to play at the college level. Joe is a former college-athlete and coach at the NAIA level, where he earned an NAIA National Championship. Joe is just one of many former college and professional players, college coaches, and parents who are part of the Next College Student Athleteteam. Their knowledge, experience, and dedication along with NCSAs history of digital innovation, and long-standing relationship with the college coaching community have made NCSA the largest and most successful athletic recruiting network in the country.

Imagine if there was a scientific way to discover whether or not your child is destined to be an elite athlete. Sounds like pure science fiction, right? Some companies, however, believe that they have the secret. The answers are in your genes.

Genetic testing is one of the newer trends to sweep through the sports and fitness world. Companies claim that, with a simple genetic test, they can tell who has what it takes to be an elite soccer player, football player, sprinter, endurance athlete and more. They can also determine athletes who are more prone to certain injuries. And the tests can help trainers understand the type of workout plan an athletes body will respond to best.

You might be wondering if these genetic tests are too good to be true (so were we), and if you need to take them to stay competitive in your college athletic recruiting. We looked at the data to better understand the how, when, where and why behind genetic testing for athletes.

Scientists have studied the genetic code of some elite and pro athletes, finding a few similar genes among these top competitors. To gauge aspiring athletes potential, companies look into their genetic codeusing a saliva sampleto see if they also contain those performance-enhancing genes that are present in the code of elite athletes.

Some companies primarily look for one particular gene: ACTN3. This gene is associated with the presence of a specific protein that helps muscles powerfully contract at high speeds. They claim that, depending on the variation of a persons ACTN3 gene, an individual is more genetically inclined to excel in either power or endurance sports. In fact, Atlas Sports Genetics president, Kevin Reilly, told Scientific Americanthat the genetic tests are more useful than physical tests to determine a childs athletic abilities before they turn 9.

Similarly, Soccer Genomicsexplains that with just one saliva sample, it can tell you if you have the genetic makeup required to excel in soccer. The Soccer Genomics website claims that their proprietary method checks an athletes speed, flexibility mobility, endurance, risk of injury, strength and nutrition. Soccer Genomics also provides athletes with a full report so they can understand their genetic strengthsand weaknesses.

Baylor Universitys football teamhas joined the genetic testing bandwagon, using the technology to build personalized training programs for each athlete. To do so, Baylor University hired Athletigen, which claims it uses cutting edge sports science to help athletes reach their highest levels of performance.

Were all trying to climb a mountain, and theres an infinite number of ways we can do so, Dr. Jeremy Koenig, the CEO of Athletigen, told USA Today. In knowing that information, you can optimize an athletes training plan or nutrition plan, based on their needs and also based on their goals.

While all of this is amazing technology, scientists around the world are stepping up to say, Not so fast! Experts claim that we simply dont know enough about the genetic code and how it affects athletic performance to be able to predict if an individual is predisposed to be an elite athlete.

Stephen Roth, an assistant professor of exercise physiology, aging, and genetics at the University of Maryland in College Park, pointed out in Scientific American that there are some 20,000 genes in the entire genome. So far, about 200 have been identified to have a positive association with fitness-related performance. However, we are only just scratching the surface on these 200, and there could be many more genes yet that play a critical role in athletic performance. He adds, Most research suggests that genetics contribute significantly to sports performance, buts very hard to put a number on it.

Furthermore, researchers explain that genetic testing companies tend to pick out data that better supports their claim and use studies that are simply too small to be relevant. Harvard geneticist Dr. Robert Green told Stat News, The notion that [athletic genetic testing companies] are somehow tailoring recommendations on the basis of your DNA is nonsense.

This new craze in fitness and sports will certainly continue to get refined over the years as we learn more about how genetics affect athletic ability. While the research isnt there yet to make genetic testing for athletes foolproof, there might still be some merit in sending in your saliva for testing. Maybe youre just interested in learning more about how your genetic code could affect your potential athletic performance. Perhaps a genetics-focused work out plan will benefit you in the long run.

As with all fitness and sports fads, however, its important to take it all with a grain of salt. Can you get genetically tested? Of course! Do you have to in order to get recruited? Definitely not.

Coaches dont need to see your genetic makeup to know if youre a good fit for their roster. They want to see your athletic ability, your potential, your work ethic and your character. Theres nothing wrong with using something like genetic testing to get an edge on the competition. But at the end of the day, you just need to be able to prove to coaches why youre a great fit for their team.

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Genetic testing: The new way to identify and train elite athletes? - USA TODAY High School Sports

Mail order genetic tests for health risks. How much do you want to … – KOMO News

Paula Ward scrolls through the website for 23andMe which was recently approved for direct-to-consumer genetic tests for health risks. KOMO photo

One of the top sellers on Amazon Prime Day this year has nothing to do with electronics. It's a $200 test for personal ancestry and genetic health risks.

The health risk part of that test has a lot of people asking : How much do you really want to know?

As a two year breast cancer survivor, Paula Ward knows she has some degree of cancer risk. But she wonders what other possible health risks might lurk in her DNA.

"My grandmother did have Parkinson's," Ward said. "Alzheimer's is also a concern because I did have a great aunt that had that, on my mother's side."

Ward likes the idea of going online to order a genetic test to learn more.

23andMe is the first genetic testing lab to get FDA approval for marketing health risk tests directly to consumers. Customers receive a kit in the mail that includes a sterile tube to collect and send back a sample of your saliva.

The results do not tell whether or not you'll get a particular disease, only if you're genetically predisposed.

23andMe is approved to test for 10 diseases but right now only tests for four: Late-onset Alzheimer's Disease, Parkinson's Disease, Hereditary Thrombophilia, linked to an increase tendedancy for blood clots, and Alpha 1 Antitrypsin Deficiency, an inherited condition linked to lung and liver disease.

"But it's really important to know that it's not diagnosing disease or health condition," explained 23andMe Medical Associate Stacey Detweiler.

On it's website, 23andMe emphasizes that its health risks reports are not for diagnosis. They only tell whether you carry certain markers associated with risks for certain health conditions.

The company says other genetic factors not covered by its tests can also pay a role in your overall health risks. So can different factors specific to your own environment and lifestyle.

"It's not giving that diagnosis," Detwiler said. "But it's kind of like another tool that you can use working with your physician, for working towards just overall general good health."

But Geneticist Dr. Gail Jarvik,head of the the Medical Genetics division at the University of Washington, urges caution.

"We have had a number of people contact us after 23andme started testing again for risk of disease," Jarvik said. "And one particular patient has a 40% risk of Alzheimers disease and is extremely concerned and would like to know what can be done. And there's very little you can do to modify your risk of Alzheimers disease using that information, that the rest of us shouldn't be doing anyway. Better diet, and better exercise, most of us would benefit from."

Critcs fear some people are not emotionally prepared for the potential results of the test, especially when many genetic diseases have no remedy.

"We don't have really good, specific ways of modifying risks of Alzheimers and Parkinsons, which are part of this test," Jarvik said. "And people should think about that before they order the test, do I want to know ths information? Will it improve my quality of life? Or just make me very worried?"

"We do highlight that this is information that once you learn it, you can't unlearn it,so to really be confident that this is information that you do want to know," Detweiler said.

"It's just a tool," said Leanne Spaulding, who plans to discuss taking the test with her family. Spaulding knows her family has a history of dementia and diabetes.

"If there's anything else that runs in my family that I don't know about, I'd just as soon know, and be able to do something about it, and be able to make plans around it," Spaulding said

Paula Ward agrees that having her potential health risk information might be an added tool for long-term planning, lifestyle changes or discussing your health with your family. Ward's advice: Before you decide on a genetic health test, do your homework, and be very honest with yourself.

"You know how you are," Ward said. "If you stress over little things, then maybe that's something you don't need to know."

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Mail order genetic tests for health risks. How much do you want to ... - KOMO News

Jeans for Genes Day stall at Taree City Centre – Gloucester Advocate

Genetic counsellor Bruce Hopper, along with some members of the local genetics team, will Be at Taree City Centre on Jeans for Genes Day, Friday August 4.

Genetic counsellor Bruce Hopper and his team will be at Taree City Centre on Jeans for Genes said. It is also an opportunity for people to have a quick conversation with Bruce about the developments in genetics research.

Each year as Jeans for Genes Day places the focus on how our genes may impact our health, we marvel at the technological advances in genetic testing that occur year after year.

Bruce Hopper, genetic counsellor at Hunter New England Local Health District, said this year the very effective panel testing for multiple genes is now an extra option for clinicians helping families.

Panel testing allows us to now test multiple genes at once, at a much cheaper price than we could have even four months ago,Mr Hopper said.

The new technology has led us to be able to change from testing one gene at a time, to now being able to test multiple genes at once.

This has led to us in the clinical setting to assist individuals and families by testing for additional genes not logistically possible up until a few months ago,he said.

This technology has already been used for a number of patients with a family history of cancer as well as some families with cardiac conditions.

Jeans for Genes Day, an initiative of the Childrens Medical Research Institute, based at Westmead Hospital, undertakes research into attempting to establish why, children specifically, are born with certain genetic conditions.

Following identification of a genetic cause the focus is then on tailoring a specific treatment for that child.

Mr Hopper, along with some members of the local genetics team, will be at Taree City Centre on Jeans for Genes Day, Friday August 4,with merchandise and badges.

It is also an opportunity for people to have a quick conversation with Mr Hopper about the developments in genetics research.

To make an appointment to see a genetic counsellor and discuss genetic concerns, individuals first need to speak with their GP and discuss a referral to the genetic service both in Taree, Forster and the surrounds.

A number of shops in the Lower Mid-North Coast Region will be wearing jeans and selling badges as will the staff at Manning Hospital.

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Jeans for Genes Day stall at Taree City Centre - Gloucester Advocate

She thought she was Irish until a DNA test opened a 100-year-old mystery – Chicago Tribune

Five years ago, Alice Collins Plebuch made a decision that would alter her future or really, her past.

She sent away for a "just-for-fun DNA test." When the tube arrived, she spit and spit until she filled it up to the line, and then sent it off in the mail. She wanted to know what she was made of.

Plebuch, now 69, already had a rough idea of what she would find. Her parents, both deceased, were Irish-American Catholics who raised her and her six siblings with church Sundays and ethnic pride. But Plebuch, who had a long-standing interest in science and DNA, wanted to know more about her dad's side of the family. The son of Irish immigrants, Jim Collins had been raised in an orphanage from a young age, and his extended family tree was murky.

After a few weeks during which her saliva was analyzed, she got an email in the summer of 2012 with a link to her results. The report was confounding.

About half of Plebuch's DNA results presented the mixed British Isles bloodline she expected. The other half picked up an unexpected combination of European Jewish, Middle Eastern and Eastern European. Surely someone in the lab had messed up. It was the early days of direct-to-consumer DNA testing, and Ancestry.com's test was new. She wrote the company a nasty letter informing them they'd made a mistake.

But she talked to her sister, and they agreed she should test again. If the information Plebuch was seeing on her computer screen was correct, it posed a fundamental mystery about her very identity. It meant one of her parents wasn't who he or she was supposed to be and, by extension, neither was she.

Eventually, Plebuch would write to Ancestry again. You guys were right, she'd say. I was wrong.

We are only just beginning to grapple with what it means to cheaply and easily uncover our genetic heritage.

Over the past five years, as the price of DNA testing kits has dropped and their quality has improved, the phenomenon of "recreational genomics" has taken off. According to the International Society of Genetic Genealogy, nearly 8 million people worldwide, but mostly in the United States, have tested their DNA through kits, typically costing $99 or less, from such companies as 23andMe, Ancestry.com and Family Tree DNA.

The most popular DNA-deciphering approach, autosomal DNA testing, looks at genetic material inherited from both parents and can be used to connect customers to others in a database who share that material. The results can let you see exactly what stuff you're made from as well as offer the opportunity to find previously unknown relatives.

For adoptees, many of whom can't access information about their birthparents because of closed adoption laws, DNA testing can let them bypass years, even decades, of conventional research to find "DNA cousins" who may very well lead them to their families.

But DNA testing can also yield uncomfortable surprises. Some testers, looking for a little more information about a grandparent's origins, or to confirm a family legend about Native American heritage, may not be prepared for results that disrupt their sense of identity. Often, that means finding out their dad is not actually their dad, or discovering a relative that they never knew existed perhaps a baby conceived out of wedlock or given up for adoption.

In 2014, 23andMe estimated that 7,000 users of its service had discovered unexpected paternity or previously unknown siblings a relatively small fraction of overall users. The company no longer provides data on surprise results. However, its customer base has more than doubled since 2014, and now contains more than 2 million people and as more people get involved with recreational genomics, bloodline surprises are certain to become a more common experience. The 2020s may turn out to be the decade that killed family secrets, for better and for worse.

"We see it every day," says CeCe Moore, a genetic genealogist and consultant for the PBS series "Finding Your Roots." She runs a 54,000-person Facebook group, DNA Detectives, that helps people unravel their genetic ancestries. "You find out that a lot of things are not as they seem, and a lot of families are much more complex than you assume."

Alice Plebuch found herself in this place in the summer of 2012. To solve the mystery of her identity, she needed more help than any DNA testing company could offer. After all, genetic testing gives you the what, but not the why.

Plebuch would turn out to be uniquely suited to the role of private eye in her own detective story. Now living in the suburbs of Vancouver, Washington, she worked as an IT manager for the University of California before her retirement. "I did data processing most of my life, and at a fairly sophisticated level," she says. Computers do not intimidate her, and neither do big questions that require the organization and analysis of complex information. She likes to find patterns hidden in the chaos.

Just the skills necessary to solve a very old puzzle.

After the initial shock of her test results, Plebuch wondered if her mother might have had an affair. Or her grandmother, perhaps? So, she and her sister, Gerry Collins Wiggins, both ordered kits from DNA testing company 23andMe.

The affair scenario seemed unlikely certainly out of character for her mom, and besides, all seven Collins children had their father's hooded eyes. But she couldn't dismiss it. "My father, he was in the Army and he was all over the world, and it was just one of those fears that you have when you don't know," she says.

As they waited for their results, they wondered. If the Ancestry.com findings were right, it meant one of Plebuch's parents was at least partly Jewish. But which one?

They had a gut sense that it was unlikely to be their mother, who came from a large family, filled with cousins Plebuch and her siblings all knew well. Dad, who died in 1999, seemed the likelier candidate. Born in the Bronx, Jim Collins was a baby when his mother died. His longshoreman father, John Collins, was unable to care for his three children and sent them to live in orphanages. He died while Jim was still a child, and Jim had only limited contact with his extended family as an adult.

But still, the notion Jim could somehow be Jewish seemed far-fetched. His parents had come to the United States from Ireland, and that history was central to Jim's sense of himself. "He was raised in an orphanage; he didn't have anything else," Plebuch says. "He had his Irish identity."

She plunged into online genealogy forums, researching how other people had traced their DNA and educating herself about the science. She and her sister came up with a plan: They would persuade two of their first cousins to get tested their mother's nephew and their father's nephew. If one of those cousins was partly Jewish, they'd know for sure which side of the family was contributing the mysterious heritage.

The men agreed. The sisters sent their kits and waited.

Then Plebuch's own 23andMe results came back. They seemed consistent with her earlier Ancestry.com test, indicating lots of Ashkenazi Jewish ancestry from areas such as Belarus, Russia, Ukraine and Lithuania. She also discovered that her brother Bill had recently taken a 23andMe test. His results were a relief sort of.

"No hanky-panky," as Plebuch puts it. They were full siblings, sharing about 50 percent of the relevant DNA, including the same mysterious Jewish ancestry. This knocked out another theory they had considered that Plebuch might have been adopted.

Plebuch found a feature on 23andMe's website showing what segments along her chromosomes were associated with Ashkenazi Jews. Flipping back and forth, comparing her DNA to her brother's, she had a sudden insight.

There was a key difference between the images, lurking in the sex chromosomes. Along the X chromosome were blue segments indicating where she had Jewish ancestry, which could theoretically have come from either parent because females inherit one X from each. But males inherit only one X, from their mothers, along with a Y chromosome from their fathers, and when Plebuch looked at her brother's results, "darned if Bill's X chromosome wasn't lily white." Clearly, their mother had contributed no Jewish ancestry to her son.

"That was when I knew that my father was the one," Plebuch says.

The next day, her sister Gerry Wiggins's results came back: She, too, was a full sibling who also displayed significant Jewish ancestry. Then, Plebuch got an email from a retired professor known for his skill at interpreting ancestry tests, to whom she'd sent hers. "What you are is 50 percent Jewish," he wrote. "This is in fact as solid as DNA gets, which in this case is very solid indeed."

But how could their father have been Jewish? Could Jim Collins's parents have been secret Irish Jews? Or maybe Jews from Eastern Europe who passed themselves off as Irish when they came to the country as immigrants?

Now they really needed the data from the cousin on their father's side. If he also had Jewish ancestry, Plebuch figured, that could point to a family secret buried in Europe.

They waited for months, through a series of setbacks problems in the lab, problems with the mail. Meanwhile, the sisters emailed back and forth.

Plebuch asked her younger sister: Did this revelation about their father's ethnicity unnerve her? They'd been so certain of their family roots, and "now we know nothing," she wrote.

"It is the first thing I think about when I wake up in the morning," Wiggins replied, "and the last thing I think about as I drift off to sleep."

At last, Plebuch was alerted that her cousins' results were ready. The data from their mom's nephew revealed that he was a full first cousin, as expected sharing about 12.5 percent of his DNA with Plebuch.

But the results from her dad's nephew, Pete Nolan, whose mother was Jim Collins' sister, revealed him to be a total stranger, genetically speaking. No overlap whatsoever with Plebuch or, by extension, with her father.

In other words, Plebuch's cousin wasn't actually her cousin.

And her dad's sister wasn't actually his sister.

Plebuch was devastated. This finding knocked out the secret-Jews theory but if it put Plebuch closer to the truth, she still felt unmoored. She was deeply fond of Nolan, with whom she shared a birthday. "I was afraid he was going to reject me because we were no longer biological cousins."

She called Nolan to share the results of his DNA test. "He was sad," Plebuch says, "but he also told me I was the best cousin he ever had."

Plebuch and Wiggins came to the stunned conclusion that their dad was somehow not related to his own parents. John and Katie Collins were Irish Catholics, and their son was Jewish.

"I really lost all my identity," Plebuch says. "I felt adrift. I didn't know who I was you know, who I really was."

For Wiggins, the revelation confirmed a long, lingering sense that something was amiss with her father's story. Studying the family photographs on her wall, she'd thought for years that their paternal grandfather looked like no one in her immediate family. Visiting Ireland in 1990, she had searched the faces for any resemblance to her 5-foot-4, dark-haired father. "There was nobody that looked like my dad," Wiggins says.

The sisters set about methodically pursuing several theories. With Jim Collins and his parents long dead, Plebuch knew she needed to unravel his story through the living. She signed up to take a class in Seattle on how to use DNA to find her father's relatives.

If the woman Jim called his sister was not his sister, was there evidence of an actual sibling out there somewhere? Might that sibling have children? Might Plebuch and her siblings have first cousins they'd never known about?

---

The dystopian novelistMargaret Atwood is fond of saying that all new technologies have a good side, a bad side, and a "stupid side you hadn't considered." Doing DNA testing for fun can carry consequences few of us might anticipate. It requires little investment at the outset, but it has the potential to utterly change our lives.

After researching her family history, Laurie Pratt decided five years ago to enhance her genealogical knowledge by testing herself and her parents. This was how she discovered that her dad was not related to her.

Pratt, 52, an airline ground operations supervisor in Orange County, California, went to her mother, who at first said the results were "impossible." But over time, her mother divulged hazy memories of a short-lived relationship during a period when she and her husband were briefly separated.

Her mother couldn't recall a name before she died. The man who raised Pratt also died; she never told him he was not, biologically speaking, her father.

She searched over several years, eventually identifying a potential candidate within the family tree of previously unknown cousins she found through DNA matching. She sent this man a letter and days later, in February of this year, he suddenly popped up in the Ancestry.com database, identified by a saliva test as her biological father.

The man called her, and they spoke briefly on the phone. Though he was unmarried when Pratt was conceived, he fretted over the idea that he had abandoned a baby without knowing it. Pratt asked if they could meet, and the man agreed, but asked if he could take some time first to process the news and tell his wife and daughter.

Two days later, Pratt logged onto Ancestry.com and discovered that the man's test had been deleted.

Reactions to DNA testing surprises vary dramatically. Moore, the genetic genealogist, says that, in her experience, even those who are initially dismayed end up glad that "they learned about the truth of themselves."

But seekers may be a self-selecting bunch, and those who find the truth thrust upon them by someone else's quest are not always happy about it. Gaye Sherman Tannenbaum, an adoptee who spent decades searching for her birthparents and now helps others on their quests, says in some instances, people are "outright hostile" when they learn of a newly discovered relative.

The reaction is understandable: DNA surprises often imply extramarital affairs, out-of-wedlock births and decades-old secrets.

Researchers from theUniversity of Leuven in Belgium recently examined the English-language websites of 43 direct-to-consumer DNA testing companies and found that few companies warn consumers about the possibility of discovering "misattributed paternity."

23andMe is unusual in offering multiple warnings. ("Unexpected relationships may be identified that could affect you and your family.") "We are as transparent as possible," says Kate Black, the privacy officer for 23andMe, brought on in 2015after the company was criticized for failing to prepare consumers for such surprises. "We try to educate and inform people in every tool."

Still, consumers may skim those warnings, or refuse to believe such surprises might lurk within their own families. Jennifer Utley, the director of research at Ancestry.com, says that even though she had seen many cases of surprise relatives in her work, she still found herself in "complete shock" when she tested her own DNA and discovered a first cousin she hadn't known existed.

"I had no idea who this person was," says Utley, who has since learned that her cousin was the product of a teenage relationship, raised by an adoptive family. Of her family, she now concludes: "We're the best secret-keepers on the planet."

Pratt says she doesn't regret testing her DNA. She found herself both "devastated and curious" after the initial discovery about her genetic heritage. But, of course, that discovery was not hers alone, because her genes are not hers alone. Cases of unexpected paternity and secret adoptions implicate other people.

"I think this jars him," she says of her biological father. "He goes to bed the good guy he's always been very religious, very Catholic. And he wakes up, he's Mick Jagger. He has a baby. It blew his mind a little bit."

In late April, Pratt sent the man another letter. She had "no desire to push myself into your family," she wrote, nor make a financial claim. What she sought were stories about him and his family, to help her build a sense of where she came from. Just one meeting, a few hours, was all she asked.

She still hasn't heard back.

By early 2013, the Collins children were hot on the trail of a hundred-year-old mystery.

They had their father's birth certificate, indicating that he'd been born on Sept. 23, 1913. They wrote to his orphanage and learned that their dad had been sent there by the New York Society for the Prevention of Cruelty to Children.

Plebuch wondered if Jim Collins, just a baby at the time, had somehow been confused with another child when he was taken from his father's home.

She found a forensic artist said to be skilled in understanding how faces change over time. She sent her a picture of her dad sitting on his father's lap when he was about 11 months, along with photos of him as an adult. Were these of the same person?

Probably, the forensic artist ruled. The ears hadn't changed, and the mouth, chin and facial proportions seemed the same.

If the mystery of their father didn't begin with his parents' life in Ireland, nor with his own time in the orphanage, Plebuch and her sister concluded it must have happened shortly after Jim was born. Unusually for the era, his mother gave birth not at home but at Fordham Hospital in the Bronx.

Could something have happened there?

Wurts Bros./Museum of the City of New York

By this time, the sisters were using techniques developed by Moore and others to help adoptees try to find relatives in a vast universe of strangers' spit. Every time a site like 23andMe informed them of what Plebuch calls a "DNA cousin" on their Jewish side someone whose results suggested a likely cousin relationship they would ask to see that person's genome. If the person agreed, the site would reveal any places where their chromosomes overlapped.

The idea, Plebuch explains, was to find patterns in the data. A group of people who share segments on the same chromosome probably share a common ancestor. If Plebuch could find a group of relatives who all shared the same segment, she might be able to use that along with their family trees, family surnames, and ancestors' home towns in the old country to trace a path into her father's biological family.

The work was slow and painstaking, complicated by the fact that Ashkenazi Jews frequently marry within the group and often are related in multiple ways. This can make distant relatives look like a closer match than they actually are. But the sisters forged on, sending at least 1,000 requests for genome-sharing to DNA cousins through 23andMe. It became Plebuch's full-time job.

Some ignored their overtures, while others were drawn in by the saga and devoted their own efforts to helping the sisters untangle it. It was as if the Collins sisters had plugged into a larger family, a web of strangers who wanted to help because generations before, their ancestors had shared soup, shared heartache, slept in the same bed.

One DNA cousin made a clever suggestion: Why not search for evidence of a baby born around the same time under a common Jewish surname, Cohen? He reasoned that the nurses, perhaps relying on an alphabetical system, might have confused a Collins baby with a Cohen baby. CeCe Moore was by now volunteering to advise Plebuch, and with additional help from Tannenbaum and the New York City Birth Index of 1913, Plebuch found a Seymour Cohen born in the Bronx on Sept. 23. DNA cousins fanned out on the Internet, tracking down a descendant of Seymour's sister.

Plebuch wrote to the woman, a professor in North Carolina, and offered to pay for her test kit if she'd contribute something completely free and absolutely priceless: her saliva. The woman agreed.

Weeks later, the results came back. No relation.

After that red herring, Plebuch decided to dive deeper into the 1913 birth index, to find babies who were in the hospital at the same time as her father. It was no easy task: The list of children born in the Bronx in 1913 ran 159 pages, was not ordered by date, and didn't distinguish hospital births from home births. But she manage to isolate all the male children born on Sept. 23, as well as the day after and the day before. She further narrowed the list to names that sounded either Jewish or ethnically neutral 30 babies in all.

Her hope was that one of those babies would share a surname with one of the people that the DNA matching sites identified as a likely relative. So she searched methodically.

"Appel" nothing. "Bain" nothing. "Bamson" nothing.

It was another dead end.

The sisters went back to the chromosome segment matching, both at 23andMe and Family Tree DNA, where they had also uploaded their genetic data. They bought at least 21 DNA test kits for themselves, relatives and strangers suspected of being relations. Plebuch found she and her siblings matched to 6,912 likely DNA relatives, with 311,467 "segment matches" among them segments along the chromosomes that overlapped with those of the Collins children. Which is to say, 311,467 potential clues.

The data they had kept on spreadsheets quickly became overwhelming, so their brother Jim, a retired software and systems engineer who had worked on NASA supercomputers, designed an iPad app called DNAMatch to help them and other seekers keep their data straight.

Plebuch was determined, and unusually well suited to the task of solving a puzzle hidden in big data. She and Wiggins searched this way for two and a half years. But she was having no luck finding someone closely related to her father's biological family they simply weren't in the system.

Perhaps they didn't know about DNA testing, or couldn't afford it, or weren't interested.

All the sisters could do was keep working and waiting, hoping the DNA testing revolution would make its way to strangers who shared their blood.

---

Ultimately, the crack in the case came not through Plebuch's squad of helpful DNA cousins, but through a stranger with no genetic connection.

It was Jan. 18, 2015, a Sunday, and Plebuch was feeling down. She was writing an email to her cousin Pete Nolan the beloved relative it turned out she wasn't really related to to update him on her stalled search.

As administrator of his 23andMe account, she had permission to check the list of his DNA relatives yet rarely did so, since new relatives rarely showed up. But she decided to check it this day and this time, there was a new person. A stranger had just had her saliva processed, and she showed up as a close relative of Nolan.

Plebuch emailed the woman and asked if she would compare genomes with Nolan. The woman agreed, and Plebuch could see the segments where her cousin and the stranger overlapped. Plebuch thanked her, and asked if her results were what she expected.

"I was actually expecting to be much more Ashkenazi than I am," the woman wrote. Her name was Jessica Benson, a North Carolina resident who had taken the test on a whim, hoping to learn more about her Jewish ethnicity. Instead, she wrote, she had discovered "that I am actually Irish, which I had not expected at all."

Plebuch felt chills. She wrote back that her father had been born at Fordham Hospital on Sept. 23, 1913. Had anyone in the Benson family been born on that date?

Jessica replied. Her grandfather, Phillip Benson, might have been born around that date, she wrote.

Plebuch began to cry.

She started combing through her list of baby names from the 1913 Index. No "Benson" born that day in the Bronx. But then, well after midnight, she found it:

The New York City Birth Index had a "Philip Bamson," born Sept. 23 one of the names she had searched among her DNA cousins. This had to be Phillip Benson, his name misrecorded on his birth certificate.

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She thought she was Irish until a DNA test opened a 100-year-old mystery - Chicago Tribune

DNA Diagnostics Center brings four genetic testing options to retail – Drug Store News

FAIRFIELD, Ohio DNA Diagnostics Center on Tuesday announced the launch of its new product line called HomeDNA, a targeted selection of at-home genetic tests for skin care, healthy weight, ancestry and paternity that helps consumers make better health and wellness choices, and provides answers about family relationships both past and present.

Beginning in July, HomeDNA from DDC will be the first suite of home DNA testing products in retail stores nationwide, according to the company.

"For the first time ever, consumers can choose from an assortment of DNA tests that interest them and buy the kits at their local drug store," stated Connie Hallquist, DDC CEO. "It's exciting that cutting-edge science is so accessible and the process is so easy. Consumers collect their DNA at home with a simple cheek swab, send to our lab for processing then receive their custom report online."

The HomeDNA selection currently includes four products: Skin Care, Healthy Weight, Ancestry and Paternity.

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DNA Diagnostics Center brings four genetic testing options to retail - Drug Store News

Direct-To-Consumer Genetic Testing Can Be a Trip Down the Rabbit Hole – Newswise (press release)

Newswise Genetics isnt just for geneticists anymore. With the rise of direct-to-consumer genetic testing companies like 23andMe, anyone can rifle through their genotypes at hundreds of thousands of positions throughout their DNA. Beyond lighthearted factoids about ear wax type and Neanderthal vestiges, anyone can learn much harder facts, such as whether they carry any of dozens of mutations known to cause Alzheimers, frontotemporal dementia, and other fatal neurodegenerative diseases.

Alzforum explores this genetic Wild West, reporting on what kind of information curious customers can find in their data files, how the FDA views direct-to-consumer genetic data disclosure, and how the role of genetic counseling is changing in the wake of the public rush to obtain genetic data from a spit sample. The story also raises hope that the movement toward personalized genetic data sharing could be harnessed toward a common good, e.g., by referring carriers of pathogenic mutations to prevention trials that could avert Alzheimers or related diseases.

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Direct-To-Consumer Genetic Testing Can Be a Trip Down the Rabbit Hole - Newswise (press release)

Genomic Testing in Oncology: From Single Genes to Whole Genomes – Labiotech.eu (blog)

Personalized medicine would be nothing without genomic testing tools.Heres an overview of how the field has rapidly evolved in the past years.

BRCA (BReast CAncer) is one of the most famous gene variants for breast cancer testing. But aside from being a game-changer from a scientific perspective, it also changed the laws of genomic testing.

The legal case Association for Molecular Pathology v. Myriad Genetics challenged the validity of gene patents in the United States, specifically patents owned by Myriad Genetics that covered human DNA sequences, including BRCA.Since then, the U.S. Patent Office no longer accepts patents on isolated DNA sequences. Myriads patents have also been challenged in Europe by a coalition led by the Institut Curie.

In 2013, BRCA was again at the center of attention whenAngelina Jolieannounced that she had undergone a double mastectomy because of family history of breast cancer and the presence of the BRCA 1 mutation. Following this decision, thousands of women worldwide requested similar surgery to their practitioner.

In Europe, such approach is less common but may be proposed to patients with aspecific profile. As BRCA is a somatic mutation, if a patient tests positive the chances are high that a member of its family does too. In France, if a patient tests positive for this mutation, he has the legal obligation to inform their family that they should test themselves.

More surprisingly,The Washington Postreported this March that employers in the US could impose hefty penalties on employees who decline to participate in genetic testing as part of workplace wellness programs if a proposed bill is passed.

Though it is quite easy to interpret a single mutation such as BRCA, there are far more variables to account for in theoncology field. A study of more than 1,000 colorectal cancer patients at the Dana-Farber Cancer Institute has revealed that about 10% in total show mutations in genes thought to increase the susceptibility to cancers.

Thanks to new improvements, we are now able to consider dozens of genes at the same time. But this comes with a challenge. Results of genetic testing are increasingly complex and difficult for those without genetics expertise to interpret correctly, Dr. Allison Kurian from Stanford University toldReuters Health.

Companies are trying to overcome these difficulties by developing automated analysis, such as the famous IBM Watson for Genomics that analyzes genetic variants based on the whole scientific literature available, though so far such an approach has not reached a sufficient clinical level of evidence to be used in routine practice.Sophia Genetics is also building on the promise of data-driven medicine that began with DNA sequencing by helping clinicians adopt the most advanced genomic data analysis to better diagnose and treat patients.

Multigene diagnostics are now reaching the stage of industrial scale-up, making these tests more reliable, sensitive, sensible and highly reproducible. Thanks to multi-gene testing, physicians can now predict the risk of recurrence or adapt treatments for a higher response rate and lower toxicity. For example, thegold standard treatment for patients with HER2+ breast cancer is Roches blockbuster Herceptin (trastuzumab), the third of thebest-seller drugs of 2016.

Another example is Genomic Health, in the US, whoseOncotypeDXanalyzes the activity of a group of genes that can affect how a cancer is likely to behave and respond to treatment. Having been on the market since 2004, it has amassed a hefty evidence base with over 700,000 users.

In Europe, this and other tests likeNanostrings ProsignaorMyriads Endopredictare performed either by private or public institutions and cost around 2,000, withdifferent quotations in each country based on their individual health insurance systems.

Startups, such as the BelgianOncoDNA,which combines an innovative test and data analysis, could offer solutions to reduce the price. The team at US-basedColor Genomicswants, in the words of the CEO, Elad Gil, to democratize access to genetic testing. The company plans to charge 230 ($249) for an analysis of BRCA1 and BRCA2, plus 17 other cancer risk genes. That is one tenth the price of many tests now on the market. The recent expansion of high-throughput technology platforms including low-cost sequencing of circulating and tumor-derived DNA and RNA and rapid quantification of microRNA offers further opportunities to build extended pattern across multiplatform data.

The recent expansion of high-throughput technology platforms, including low-cost sequencing of tumor-derived DNA and RNA in the blood and rapid quantification of microRNA offers further opportunities to build extended pattern across multiplatform data.

On the other hand, while more genetic changes can be identified with whole exome and whole genome sequencing than with select gene sequencing, the significance of much of this information is still unknown. Because not all genetic changes affect health, it is difficult to know whether identified variants are involved in the condition of interest. I dont doubt genetic testing in oncology has a promising future trying to solve these challenges.

Images via BlueRingMedia, ktsdesign / Shutterstock;Myriad Genetics

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Genomic Testing in Oncology: From Single Genes to Whole Genomes - Labiotech.eu (blog)

Genetic Testing Underutilized in Early Breast Cancer – MedPage Today

Action Points

Patients with early-stage breast cancer often undergo definitive surgery without genetic testing, or before BRCA1/2 testing has been performed, and the results frequently aren't explained to them, a survey of surgeons and patients found.

Approximately one-third of surgeons said they rarely referred patients for genetic counseling, and only 73% of high-volume surgeons and 35% of lower-volume surgeons said they were confident in discussing genetic test results with their patients, reported Allison Kurian, MD, of the Stanford University School of Medicine in California, and colleagues.

And 27% of patients who turned out to have high-risk variants of the BRCA1/2 genes, and one-third of patients at average risk, weren't tested until after surgery. In fact, 17% of high-volume surgeons and 38% of lower-volume surgeons said that they never delayed surgery for genetic test results, Kurian's group wrote in the Journal of Clinical Oncology.

Furthermore, half of lower-volume surgeons and one-quarter of high-volume surgeons said they managed patients with known high-risk mutations of BRCA1/2 the same way as they managed patients with genetic variants that were of uncertain significance, which often turn out to be benign, Kurian and colleagues said.

"This study offers a unique window into a transformative period for precision medicine and the challenge of implementing advances in genomic technology into breast cancer treatment," Kurian and colleagues wrote. "Effective genetic testing requires clinicians to assess pretest risk, counsel patients on testing implications, order an appropriate test, communicate results, and develop an appropriate management plan.

"Furthermore, there is urgency for a patient with newly diagnosed breast cancer; genetic tests are often desired to inform surgical decision making, yet patients may fear that the 3-week testing process will dangerously postpone treatment," they noted. "Although some patients may prefer to defer testing until after the hectic period of initial decision making, for others, this delay may represent suboptimal care. In addition, it is concerning that a substantial proportion of surgeons, particularly those who saw the fewest patients with breast cancer, never postponed surgery until test results were available."

In an accompanying editorial, Soojin Ahn, MD, and Elisa Port, MD, both breast cancer surgeons at Mt. Sinai Hospital in New York City, echoed the study authors' concerns. "Although many patients with newly diagnosed breast cancer are eager to undergo surgery as soon as possible, the physician should explain and advise about the benefits of waiting for the genetic test results in certain situations ... " they said. "Also important is that patients are reassured that a delay of surgery for a few weeks will in no way affect survival or risk of recurrence.

"Even more alarming was the number of surgeons who admitted to managing patients with a variant of uncertain significance (VUS) the same way as BRCA mutation carriers, which likely led to 51% of average-risk patients with a VUS who underwent bilateral mastectomy," they said. "Because most VUSs are ultimately reclassified as benign, the management of an individual who carries a VUS should be based on personal and family history and not on the presence or absence of the variant itself.

"Our job as breast surgeons is to provide appropriate and accurate information in concert with our genetic counselors to convey that more-extensive surgery is no better than lumpectomy with respect to overall breast cancer survival and systemic recurrence and that a VUS has the potential to be reclassified as benign. Then it is our patients' decision," Ahn and Port advised.

Kurian and colleagues surveyed 2,502 women diagnosed with stage 0-II breast cancer in 2014-2015. These women were part of the Surveillance, Epidemiology, and End Results (SEER) program registries of the state of Georgia and Los Angeles County. Surveys were mailed approximately 2 months after the women underwent surgery. Most women (98%) reported their surgeon's name, and these doctors were surveyed as well. Surgeons were classified as high-volume if they treated more than 50 patients with breast cancer in the past year.

More than half of women surveyed (1,535, or 61%) reported no genetic testing and were excluded. Approximately 300 women were excluded for other reasons, leaving a final sample of 666 women who underwent genetic testing. Of these, 72% said no mutation was found, 9% said a variation of uncertain significance was found, and 7% reported a high-risk mutation in BRCA1/2 or other risk-associated gene.

Of note, the study found that type of insurance was a factor associated with delay of genetic testing. Compared to patients with private insurance, patients were more likely to be tested after their surgery if they had Medicare (OR 2.6; 95% CI 1.6-4.2), Medicaid (OR 2.3; 95% CI 1.1-4.5), or no insurance (OR 2.5; 95% CI 1.5-4.3).

Limitations of the study included its reliance on patient self-reports, which can be inaccurate, and the potential for selection bias, Kurian and colleagues noted. However, their analysis was weighted for survey non-response to address this bias, they said.

"Our findings reinforce the need to address challenges in personalized communication about genetic testing," Kurian's group concluded. "Clinicians' skill in communicating about precision medicine technologies will determine whether these advances translate into better care and outcomes."

Ahn and Port added that, "Genetic testing represents one of the most significant advances in personalizing breast cancer treatment and individualizing care. Optimization of testing implementation and accurate interpretation should be paramount to the surgeon who cares for women with breast cancer. As Kurian et al. demonstrate, on this front, there is much room for improvement."

The study was funded by the National Cancer Institute.

Kurian reported research funding from Invitae, Myriad Genetics, Ambry Genetics, GenDx, and Genomic Health.

Ahn and Port reported no financial relationships.

2017-07-10T15:00:00-0400

Excerpt from:
Genetic Testing Underutilized in Early Breast Cancer - MedPage Today

Checking the cost of a genetic test – Chicago Tribune – Chicago Tribune

In the spring, 23andMe, a DNA testing firm, was the first company to win approval from the Food and Drug Administration to sell directly to consumers, without a prescription, a genetic test that screens for several diseases, including late-onset Alzheimers, Parkinsons and some rare blood disorders.

Heres how it works: You pay $199 online for a Health and Ancestry kit. When it arrives, you spit into a tube and mail it back. Two months later, you can view your results in your online account.

Tests like this arent new, but in the past you could typically get one only if your doctor ordered it. And often it was to screen you for a specific condition, such as the BRCA genes, which put you at higher risk for breast and ovarian cancer.

The results were then shared with a doctor, who interpreted them for you. By contrast, the 23andMe test puts the results in the hands of the consumer.

Should you get one? Before you do, consider your motive. What kind of information are you looking for and what are you going to do with it? After all, some of the diseases for which 23andMe has been authorized to provide genetic reports Alzheimers, for instance have no cure.

Also keep in mind that having the gene for a certain disease doesnt mean youll get the disease. In the case of Parkinsons, for example, direct-to-consumer genetic testing can help to identify who is at risk for developing Parkinsons but cannot predict who will be diagnosed, says John Lehr, CEO of the Parkinsons Foundation.

The same is true of Alzheimers. Thats one reason the Alzheimers Association discourages genetic testing, says Keith Fargo, director of scientific programs and outreach. Its not going to answer the question most people have: Will I get Alzheimers or not?

Nevertheless, some people are information seekers, says genetic counselor Susan Hahn. And information can be powerful. It could push some people to adopt healthier habits, a major factor in staying well.

If you choose to get a genetic test for health risks, seek counseling from a genetic specialist or a doctor, who can help you understand your test results. Genetic counseling is not included in 23andMes Health and Ancestry kit. But the firms website provides resources that help connect customers with counselors.

Nellie S. Huang is a senior associate editor at Kiplingers Personal Finance magazine.

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Checking the cost of a genetic test - Chicago Tribune - Chicago Tribune

Konica Minolta buys US genetic test maker in $1B deal – BioPharma Dive

Dive Brief:

KonicaMinolta, which formed in 2003 as a result of a merger between the photographic companies Konica and Minolta, has been working to bolster its healthcare business. The acquisition of Ambry is KonicaMinolta's largest to date and is aimed at building a foundation in precision medicine.

Konicasees Ambry's genetic testing chops as a complement to its own imaging technology. The deal will build on an immunostaining technology Konica developed in 2015 known as High-Sensitivity Tissue Testing (HSTT).

"The combination of these bioinformatics capabilities, alongside Konica Minoltas HSTT technology, will create new opportunities for drug discovery and clinical trials not currently available,"said Kiyotaka Fujii, president of Global Healthcare at Konica Minolta.

Konicaplans to first roll our Ambry's offerings alongside its own in Japan and then will expand to Europe. In addition to aforementioned test for DNA mismatch repair mutations, Amby has a range of screens for both inherited and non-inherited diseases in oncology, cardiology, pulmonology and neurology. Ambryalso offers hereditary cancer panels and clinical exome sequencing.

The lofty goals of precision medicine, while often touted, remain unrealized. But recent progress in genetic screening, particularly in oncology, is bringing that vision closer to reality. The Food and Drug Administration's recent green light for Keytruda in DNA mismatch repair mutated-tumors, for example, marked the first tissue-agnostic approval to date.

While Ambrysecured a major buyout, other diagnostic companies have had a tougher week.Massachusetts-based Interleukin Genetics, which has been struggling to generate revenue and pay off debts, saw an agreement to defer loan payments to its senior lender crumble. It's now evaluating its strategy, including a sale, and has cut over half of its already small workforce.

Top image credit: Adobe Stock

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Konica Minolta buys US genetic test maker in $1B deal - BioPharma Dive

UK’s chief medical officer calls for gene testing revolution in cancer treatment – Daily Nation

Saturday July 8 2017

Kenyans mark World Cancer Day on February 4, 2016 in Eldoret town. Tiny errors in DNA code can lead to cancer and other illnesses. PHOTO | JARED NYATAYA | NATION MEDIA GROUP

A revolution in the search for cancer treatments has been proposed by Englands chief medical officer.

Prof Sally Davies wants gene-testing to be introduced on a routine basis.

I want the National Health Service to be offering genomic medicine, that means diagnosis of our genes, to patients where they can possibly benefit, she said.

GENETIC TESTS Testing, she said, should be standard across cancer care as well as some other areas of medicine, including rare diseases and infections.

Doctors are already using genetic tests to identify and better treat different strains of the infectious disease, tuberculosis.

Humans have about 20,000 genes, bits of DNA code or instructions that control how our bodies work.

Tiny errors in this code can lead to cancer and other illnesses.

Gene-screening can reveal these errors by comparing tumour and normal DNA samples from the patient.

Professor Davies says in about two-thirds of cases, this information can improve their diagnosis and care.

Doctors can tailor treatments to the individual, picking the drugs most likely to be effective.

Currently, genetic testing in England is done at 25 regional laboratories, as well as some other small centres.

Professor Davies wants to centralise the service and set up a national network to ensure equal access to the testing across the country.

She said one hurdle could be doctors themselves, who dont like change.

Patients should persuade them to move from a local to a national service. *** Joe Furness was in Newcastle upon Tyne when he was invited to a party in London.

A three-hour, one-way train trip would cost him 78.50 (Sh10,517) and a plane flight 106, but Joe, aged 21, is a poor student and didnt have much money.

What he did have however was time. So Joe decided to take a detour via Spain.

CAR HIRE Flying from Newcastle to the Spanish island of Menorca cost him 16.00.

There he hired a car for 7.50 and spent the night in it, while sipping a 4.50 cocktail.

Next morning he flew to London for 11.00, joined the party, then grabbed a lift home with a pal afterwards.

Total cost of 39 was a saving of 39.50 on a train journey from Newcastle and 67 on a flight.

Distance travelled was 2,350 miles, against 290 miles from the North to London. *** Bradley Lowery is a six-year-old boy who won the hearts of the nation by campaigning for his beloved Sunderland Football Club and for its top scorer, Jermaine Defoe.

TV film of Defoe holding a smiling Bradley in his arms before a recent game appeared on nationwide television.

What everyone knows, of course, is that Bradley is dying from the childhood cancer neuroblastoma.

A fund-raising campaign raised money for him and will be used for other sick children when Bradley dies.

Now it seems fraudsters have been setting up pages on the internet claiming to be collecting for the boys cause.

His family have warned against them. Please be vigilant, they said in a message on Facebook.

You have to wonder, how low can some people stoop?

*** Some 400 plastic bottles are sold per second in this country and millions end up, along with other garbage, in the worlds oceans.

In fact, scientists calculate that by 2050, the oceans will contain more plastic by weight than fish.

The opposition Labour party is pressing for the introduction of a money-back return scheme, which has been introduced in many other countries and has proved successful in reducing the scale of littering.

You pay a bit extra for your drink but you get it back if you return the bottle, which the drinks company then recycles.

Coca-Cola, among others, is backing the idea. *** Famous one-liners:

Doctors recommend eight glasses of water per day. Why does this seem impossible when eight glasses of beer is so easy? Anonymous.

If you want to know what God thinks of money, look at the people he gave it to. American writer Dorothy Parker.

The two most beautiful words in the English language are Cheque enclosed. Dorothy Parker.

PLAGIARISM I asked God for a bike but I know He doesnt work that way, so I stole a bike and asked for forgiveness. Internet.

I wouldnt say I was the best football manager in the business, but I was in the top one. Brian Clough, British football manager.

To steal ideas from one person is plagiarism; to steal from many is research. Anonymous

England and America are two countries separated by a common language. Irish writer George Bernard Shaw.

If I agreed with you, then we would both be wrong. Internet.

Scene of crime officers camp at CS's Karen home and Bomas of Kenya.

Interior CS woke up and complained of a sharp chest pain before collapsing in his house.

Link:
UK's chief medical officer calls for gene testing revolution in cancer treatment - Daily Nation

David Frost cardiac genetic testing service opens – BBC News – BBC News


BBC News
David Frost cardiac genetic testing service opens - BBC News
BBC News
The service at Belfast City Hospital aims to identify and support those at risk of heart problems.

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David Frost cardiac genetic testing service opens - BBC News - BBC News

Hospital gets cardiac genetic test service created in memory of broadcaster’s son – Belfast Telegraph

Hospital gets cardiac genetic test service created in memory of broadcaster's son

BelfastTelegraph.co.uk

A genetic testing service to help find those at risk of heart disease has been launched at Belfast City Hospital.

http://www.belfasttelegraph.co.uk/news/northern-ireland/hospital-gets-cardiac-genetic-test-service-created-in-memory-of-broadcasters-son-35907048.html

http://www.belfasttelegraph.co.uk/news/northern-ireland/article35907047.ece/dbb20/AUTOCROP/h342/2017-07-08_new_32696180_I1.JPG

A genetic testing service to help find those at risk of heart disease has been launched at Belfast City Hospital.

It was established through the Miles Frost Fund. Miles was the son of late broadcaster Sir David Frost and died from a genetic heart condition called hypertrophic cardiomyopathy (HCM) two years ago, aged just 31.

Around 17,500 people in Northern Ireland are living with a faulty gene which puts them at high risk of a heart attack at a young age.

Dr Alison Muir, consultant cardiologist at Belfast City Hospital, said: "When someone dies from an inherited heart condition, not only will their family be faced with the devastating loss of a loved one, they will also face the possibility that they or another family member could be affected with the condition.

"It is important they are referred to the service so we can carry out this cascade testing.

"It can be a frightening prospect so the care of a specialist inherited cardiac conditions nurse is vital to support them through the process."

HCM causes the muscle wall of the heart to become thickened and can make it more difficult to pump blood around the body.

Miles is believed to have inherited the gene responsible for the condition from his father.

Although Sir David did not die from the condition, his post-mortem examination found the disease was present.

Miles and his brothers, Wilf and George, were not tested at the time, his family said.

In response to Miles' death, the Frost family and British Heart Foundation set up a fund with the aim to raise 1.5m to set up a national cascade testing service for family members of those who have died of or have been diagnosed with HCM.

Wilf Frost said: "It's wonderful to be in Belfast to see first-hand the work being funded in Miles' name and meet the patients who are benefiting from the service.

"When dad died, we were all just in complete shock, and when Miles died it was even worse. To lose someone so young, in the prime of his life, has been and still is hard to take.

"We miss him every day. We're determined to look forward and help prevent other families from experiencing the heartache we have which is why we're incredibly proud to roll out this new service.

"If we can prevent just one person suffering the same fate as Miles, then his death will not have been in vain."

Belfast was the first city in the UK to benefit from the Miles Frost Fund.

British Heart Foundation researchers were among the first to find the faulty genes underlying the deadly heart condition.

Belfast Telegraph

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Hospital gets cardiac genetic test service created in memory of broadcaster's son - Belfast Telegraph

Global Breast Cancer Predictive Genetic Testing Market Outlook 2022 – PR Newswire (press release)

LONDON, July 6, 2017 /PRNewswire/ -- Download the full report: https://www.reportbuyer.com/product/4825304/

The current and future aspects of cancer genomics have covered a long path of advances and the journey is still ongoing.

The technological improvements in genomic sciences had allowed parallel sequencing of both tumors and germline mutations and had provided the weapon of next generation sequencing. Under the supervision of intellectual property laws and appropriate guidelines cancer susceptibility testing has become one of the major assets in medical practice. There appears to be pervasive belief in both scientific and public circles that genetic testing is going to be the cornerstone of much, if not all, of what medicine holds for the future. Besides, what is generally meant is the wide scale testing for susceptibility to common diseases especially for cancer and for responsiveness to drugs has come to be described as genetic profiling.

With the knowledge and acceptance of the fact that the breast cancer is on alarming scale, the major concern has been diverted towards this scenario. As there are 5% to 10% of breasts cancer cases which occur due to the germline mutations and the most common ones are the BRCA1 and BRCA2 mutations. Fortunately, these hereditary cancers can be prevented if diagnosed early or even before its occurrence which includes the susceptibility testing of breast cancer genes.

Breast cancer susceptibility has been in existence since 1966 and had served as the boon for the patients as well as the stakeholders. Certainly, 2013 have been the year of major events in the field of predictive genetic testing as US FDA approved the use of next generation DNA sequencing in clinical practice. Further, the decision of Supreme Court invalidated the BRCA patent held by Myriad genetics. These decisions made the new entries and embraced the competitions in the cancer genetics market.

Leading to the current scenario which is completely changing and the market is now subjected to the direct to consumer BRCA testing kits provided by varied pharmaceuticals. However, the new entrants to the global market will face considerable challenges in persuading physicians to choose them as a test provider. New entrants will need to provide indication of subsequent in meeting the requirements of physicians such as reputation, trust, transparency, and counseling. Some of these aspects cannot be established quickly, and take time to establish.

The future holds up for the precision medicine and cancer predictability will be proving a great deal, as through the aid of breast cancer predictive testing and better counseling measures this regimen can turn out into an effective prophylactic modality for hereditary as well as early stage breast cancer.

The predictive risk calculations will be leading towards the better management and improved survival rates. Over the next decade or two, it seems likely that the technology will screen entire populations or specific subgroups for genetic information in order to target interventions to individual patients that will improve their health and prevent disease. While the evidence base is still growing, genetic services industry leaders strongly believe that emerging testing capabilities will have significant clinical impact in the future.

"Global Breast Cancer Predictive Genetic Testing Market Outlook 2022" Report Highlights: Hereditary Breast Cancer Genes Conceptual of Breast Cancer Susceptibility Predictive Cancer Testing Essentials Economical, Ethical & Social Aspects Global Prevalence of Breast Cancer Market & Cost Analysis of Predictive Testing Insurance Affairs for Breast Cancer Predictive Testing Download the full report: https://www.reportbuyer.com/product/4825304/

About Reportbuyer Reportbuyer is a leading industry intelligence solution that provides all market research reports from top publishers http://www.reportbuyer.com

For more information: Sarah Smith Research Advisor at Reportbuyer.com Email: query@reportbuyer.com Tel: +44 208 816 85 48 Website: http://www.reportbuyer.com

To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/global-breast-cancer-predictive-genetic-testing-market-outlook-2022-300484239.html

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Global Breast Cancer Predictive Genetic Testing Market Outlook 2022 - PR Newswire (press release)

Invitae: Growth in Genetic Testing – Moneyshow.com (registration)

Genetic testing is expected to grow from a current $3-$4 billion market to $8-$10 billion over the next 5-6 years, asserts biotechnology sector specialist says Bret Jensen, editor of Biotech Gems.

Shares of genetic testing firm Invitae (NVTA) have risen over 20% in the past year. However, the shares have been chopped in half since they became public in early 2015, making the stock a busted IPO, a space we have found some significant investment successes in during the past.

Their specialty is genetic tests for hereditary disorders, amassing them into a single service whose advantage over competitors includes a lower price point, faster turnaround time and improved accuracy.

Management is quick to point out that over 4,000 medically important genetic tests are available today, but many are underutilized due to prohibitively high pricing.

They are building their genetic information platform with the long term in mind, noting that as more and more patients are accurately diagnosed they will be provided with the appropriate therapy earlier resulting in improved outcomes.

Current growth has been promising, with over twenty-six thousand tests accessioned and fourteen quarters of double digit sequential growth.

Other encouraging news has been that the average cost per sample has fallen to $360, representing a 40% improvement over the prior year and a 10% improvement over the prior quarter. Management expects these costs to continue to fall throughout the rest of 2017.

One can imagine the vast potential of the companys technology when they consider that in the future genetic information will play a role throughout a persons life, from newborn screening to having kids, addressing health issues and medical conditions to aging-related conditions and preventative applications.

Thus far this year the company has made a couple key acquisitions, including snapping up software developer Ommdom for $6 million in common stock.

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Invitae: Growth in Genetic Testing - Moneyshow.com (registration)

Cystic Fibrosis Among Asians: Why Ethnicity-Based Genetic Testing is Obsolete – PLoS Blogs (blog)

A hypothetical heterosexual couple living in the US or UK takes tests to learn if they are carriers of the more prevalent recessive diseases. Theyre relieved to find out that cystic fibrosis (CF) isnt something they need worry about passing to their children neither has any of the few dozen mutations the test panel includes.

The couple do not carry the most common 32,106, or even 139disease-causing mutations in the CFTR gene, the number depending upon the testing lab. But that could be a problem a false negative if the woman and man are anything other than non-Hispanic whites.

More than 2,000 variants (alleles) of CFTR are known, and their prevalence varies in different populations. Thats not because DNA recognizes the race or nationality of the person whose cells its in, but because of how we choose our partners.

CF Among Asians

For people of Asian ancestry, the available CF test panels are pretty much useless, according to an article (Ethnicity impacts the cystic fibrosis diagnosis: A note of caution) and an accompanying editorial (Dont judge a book by its cover: the emerging challenge of diagnosing CF in non-Caucasians), in the latest issue of the Journal of Cystic Fibrosis (both unfortunately behind a paywall).

Barbara Bosch, from the University Hospitals Leuven in Belgium and colleagues, compared CF symptoms among 234 Asians represented in the internationalCFTR2database to 53 patients in the UK CFdatabase.

In European whites, CF tends to cause lung congestion (often with Pseudomonas aeruginosa infection), pancreatic insufficiency, salty sweat, and likely one or two copies of the mutation F508del, which deletes one of the proteins 148 amino acids. Asians had been thought to have more severe lung disease than the classic European cases, but it turns out that they have poorer lung function overall, making CF seem worse. Asians also have less salty sweat, much better pancreatic function, and fewer cases of CF-associated male infertility. It isnt surprising that CF cases among Asians can be missed or misdiagnosed.

The most important distinction between European white and Asian populations, for treatment purposes, is the CFTR mutations. While 73% of people recognized to have CF worldwide have at least one copy of F508del and 70% of Europeans with CF have two copies, the mutation accounts for only 12-31% of CF alleles among Asians, and none (so far noted) in Korea, Japan, Thailand, and Vietnam. Last year researchers discovered a CFTR mutation in theChinesenot yet found in other populations. Having F508del or a handful of other specific mutations is a prerequisite for the targeted treatment ivacaftor (Kalydeco) and only F508del for ivacaftor combined with lumacaftor (Orkambi).

Asian roots impact on all 3 CF diagnostic pillars, the researchers conclude, referring to the lung and pancreas symptoms, the salty sweat, and the mutations. To avoid misdiagnosis as something like tuberculosis, which has happened to Chinese children with CF, the investigators suggest a more personalized approach to diagnosing the condition that considers ancestry. But parsing populations to better target genetic tests is running up against genetic admixture diversity at the DNA level when parents are from different backgrounds.

InterrogatingCFTR

In this age of ancestry.com ads everywhere and even dog breed DNA testsavailable at Wal-Mart, shouldnt we gear genetic disease tests to ancestry, restricting the mutations? But theres a catch-22. Returning to the example of CF, if Asians (and presumably other non-whites) are misdiagnosed when their clinical presentations dont match the classic white phenotype, then their mutations wont enter the databases that guide test development.

A better approach than meticulously cataloging ancestors and testing for the few identified mutations in prospective parents, especially given faster and cheaper DNA sequencing, is what the company GenePeeksis pioneering: mining as much information about a gene as possible, and applying it to all patient samples. That means deducing every way that a gene can vary, with extra, missing, and substituted DNA bases. So far theyve interrogated more than 1,000 genes.

For CF, GenePeeks curation process predicts changes in the 188,702 DNA base sequence of CFTR that alter the encoded proteins structure or function in ways that could affect health. F508del entraps CFTR protein in the twists and turns of the cells secretory network, so it cant reach the surface where it should monitor ion (salt) transport. A different mutation might slow the proteins journey to the cell membrane, and another close the ion channels too quickly. For some genotypes, symptoms might be so mild that a clinician not familiar with the diverse guises of CF wouldnt make the diagnosis. Chronic sinusitis or male infertility may be the lone manifestations.

GenePeeks analysis extends to interactions of mutations. For example, their algorithms can pick up when two people have mutations in different parts of the gene that complement, so that together in their child, the protein functions well enough to support lung health. A lab just cataloging mutations without considering how a pair of them might theoretically interact (based on biochemistry) might conclude that the risk of the child inheriting CF is 25%, when its not. In the future, analysis will ideally include gene-gene interactions.

Several recently announced collaborations are bringing GenePeeks expertise to parts of the world where populations are young and more global genetic testing needed: Saudi Arabia, the United Arab Emirates, Oman, Qatar, Bahrain, Kuwait, Lebanon, Jordan, Turkey, India, Pakistan, South Africa, Egypt, Ghana, and Kenya. The desire to protect a future child from serious disease is universal. Were trying to meet that need with better screening tools in markets that have been underserved historically, GenePeeks CEO Anne Morriss recently told me. Whenever the company becomes aware of a clinically important variant of any gene, they add it to their list for anyone not just a member of the population in which the mutation was discovered.

Genetic Testing for All

While genetic testing companies are expanding their offerings, some of them are still not keeping up with admixture. Even recent recommendationsto increase the roster of genes in preconception carrier screens require that a disease have a carrier frequency of at least 1 in 100. But where? Among whom?That criterion might miss a disease thats rare in a larger population yet concentrated in a subgroup.

Thats the case for Steel syndrome, which causes joint pain, hip dislocation, pinching of the spinal cord in the neck, short stature, and characteristic facial features, due to a mutation in a collagen gene. Its much more common among residents of East Harlem in New York City who are of Puerto Rican ancestry than among other groups. Hip surgery, which is done for the same symptoms arising from an injury, could harm a person with Steel syndrome. Because some people who identify as Hispanic may not be aware of Puerto Rican ancestry, adding the Steel syndrome mutation to orthopedic genetic testing panels or collagen panels makes sense. The 1 in 100 carrier frequency rule would miss the disease in East Harlem. (I told the Steel syndrome story here.)

GenePeeks approach celebrates the dynamic complexity of the human gene pool. The protocol recognizes the realities of global migration and diversity. People move they always have and always will. A couple with Middle Eastern ancestry can just as easily walk into a doctors office in LA as Dubai, says Morriss.

Direct-to-consumer genetic testing websites can oversimplify the situation, presenting carrier testing as a yes/no situation: you have a mutation or you dont. If you are starting a family, find out if you are a carrier for certain inherited conditions, advertises 23andme. A carrier can actually mean hundreds if not thousands of different things! We have two copies of each gene (except the X in males), and each gene, because it has thousands of building blocks, comes in many flavors.

So before we all load our genome sequences onto our smartphonesand start doling out dough for analysis to the companies that are now planning this new addictive service, researchers need to learn all there is to know about specific genes in us all.

Who ever knew genetics could be so complicated?

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Cystic Fibrosis Among Asians: Why Ethnicity-Based Genetic Testing is Obsolete - PLoS Blogs (blog)

Greater access to genetic testing needed for cancer diagnosis and … – Medical Xpress

July 5, 2017 Credit: Cancer Research UK

Cancer patients should have routine access to genetic testing to improve diagnosis and treatment, according to England's chief medical officer.

Despite the UK being a world leader in genomic medicine its full potential is still not being realised, Professor Dame Sally Davies said in a new report.

Davies urged clinicians and the Government to work together and make wider use of new genetic techniques in an attempt to improve cancer survival rates.

Genetic testing can pinpoint the faults in DNA that have led to a cancer forming. Different cancers have different faults, and these determine which treatments may or may not work.

Such testing could lead to patients being diagnosed faster and receiving more targeted or precise treatments.

Davies said that "the age of precision medicine is now" and that the NHS must act quickly to remain world class.

"This technology has the potential to change medicine forever but we need all NHS staff, patients and the public to recognise and embrace its huge potential." said Davies.

Sir Harpal Kumar, Cancer Research UK's chief executive, agreed, saying that it would be a disservice to patients if the UK were slow to respond to innovations in this area.

The report recommends that within 5 years training should be available to current and future clinicians and that all patients should be being offered genomic tests just as readily as they're given MRI scans today.

Davies also called for research and international collaboration to be prioritised, along with investment in research and services so that patients across the country have equal access.

However the report recognises potential challenges such as data protection issues and attitudes of clinicians and the public.

"This timely report from the chief medical officer showcases just how much is now possible in genomics research and care within the NHS," added Sir Kumar.

"Cancer Research UK is determined to streamline research, to find the right clinical trial for cancer patients and to ensure laboratory discoveries benefit patients".

And the design of clinical trials are starting to change. A number of trials are underway, like Cancer Research UK's National Lung Matrix Trial with AstraZeneca and Pfizer, where patients with a certain type of lung cancer are assigned a specific treatment based on the genetic makeup of their cancer.

However, Sir Harpal Kumar stressed that to bring the report's vision to life the Government, the NHS, regulators and research funders need to act together.

Explore further: Adding abiraterone to standard treatment improves prostate cancer survival by 40 percent

Cancer Research UK is partnering with pharmaceutical companies AstraZeneca and Pfizer to create a pioneering clinical trial for patients with advanced lung cancer marking a new era of research into personalised medicines ...

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Genetic Testing Facilities and Cost – Breastcancer.org

Testing for abnormal breast cancer genes such as BRCA1, BRCA2, and PALB2 is usually done on a blood or saliva sample taken in your doctors office and sent to a commercial laboratory or a research testing facility. Most people have it done by a commercial lab. During testing, the genes are separated from the rest of the DNA, and then they are scanned for abnormalities.

Often, the type of genetic testing that's done and the specific genes being tested dictate whether testing in a research setting is possible. Research labs tend to perform free and anonymous testing. But they may provide limited results or require multiple family members to participate. In addition, test results may not be available for many months or years, and sometimes they're not available at all.

In the United States, several laboratories perform commercial BRCA1, BRCA2, and PALB2 testing, including Myriad Genetic Laboratories, Ambry Genetics, and GeneDx. They report results within 2 to 4 weeks. Abnormalities in other genes have also been associated with breast cancer risk. BRCA1 and BRCA2 mutations are the most common cause of hereditary breast cancer. Right now, PALB2 and other breast cancer gene abnormalities appear to be a less common cause of breast cancer, although testing for many of these genes is now also available. People choosing to undergo genetic testing may choose to be tested for only the BRCA1 and BRCA2 genes or to have multiple breast cancer-related genes tested together through a panel test. The cost of testing ranges from approximately $300 to $5,000, depending on whether you are being tested for only a specific area(s) of a gene known to be abnormal or if hundreds of areas are being examined within multiple genes.

Because different types of genetic abnormalities are detected by different test methodologies, it is important to be aware of the technical test type being performed. Gene sequencing detects the majority of genetic mutations. However, this test method cannot detect large mutations or genetic rearrangements that may occur within the genes. Therefore, testing the genes for large-scale mutations is also recommended. Most laboratories offering testing will perform both types of tests at the same time. If your testing was done in the past, it is possible screening for large-scale mutations was not performed. Inquire with the physician or genetic counselor who ordered testing to confirm what types of testing were completed and whether you may be eligible for any additional testing.

Find out if your insurance plan will cover genetic testing many insurance plans do. The 2008 Genetic Information Nondiscrimination Act (GINA) protects against discrimination by health insurance plans based on an individuals genetic information. However, if you're still concerned about your privacy, you may pay for the testing yourself and submit your blood sample under a code number or an assumed name. If you opt for the latter, choose a name you can remember easily and stick to it. In addition, GINA does not extend to life insurance, so securing life insurance coverage prior to genetic testing is suggested.

In 1988, the U.S. Congress passed the Clinical Laboratory Improvement Amendments (CLIA) to ensure quality standards and the accuracy and reliability of results across all testing laboratories (except research). Genetic testing should be performed by a CLIA-approved facility.

Original post:
Genetic Testing Facilities and Cost - Breastcancer.org

Greater access to genetic testing needed for cancer diagnosis and treatment – Cancer Research UK

Cancer patients should have routine access to genetic testing to improve diagnosis and treatment, according to Englands chief medical officer.

Despite the UK being a world leader in genomic medicine its full potential is still not being realised, Professor Dame Sally Davies said in a new report.

This timely report from the chief medical officer showcases just how much is now possible in genomics research and care within the NHS. - Sir Harpal Kumar, Cancer Research UK

Davies urged clinicians and the Government to work together and make wider use of new genetic techniques in an attempt to improve cancer survival rates.

Genetic testing can pinpoint the faults in DNA that have led to a cancer forming. Different cancers have different faults, and these determine which treatments may or may not work.

Such testing could lead to patients being diagnosed faster and receiving more targeted or precise treatments.

Davies said that the age of precision medicine is now and that the NHS must act quickly to remain world class.

This technology has the potential to change medicine forever but we need all NHS staff, patients and the public to recognise and embrace its huge potential. said Davies.

Sir Harpal Kumar, Cancer Research UKs chief executive, agreed, saying that it would be a disservice to patients if the UK were slow to respond to innovations in this area.

The report recommends that within 5 years training should be available to current and future clinicians and that all patients should be being offered genomic tests just as readily as theyre given MRI scans today.

Davies also called for research and international collaboration to be prioritised, along with investment in research and services so that patients across the country have equal access.

However the report recognises potential challenges such as data protection issues and attitudes of clinicians and the public.

This timely report from the chief medical officer showcases just how much is now possible in genomics research and care within the NHS, added Sir Kumar.

Cancer Research UK is determined to streamline research, to find the right clinical trial for cancer patients and to ensure laboratory discoveries benefit patients.

And the design of clinical trials are starting to change. A number of trials are underway, like Cancer Research UKs National Lung Matrix Trial with AstraZeneca and Pfizer, where patients with a certain type of lung cancer are assigned a specific treatment based on the genetic makeup of their cancer.

However, Sir Harpal Kumar stressed that to bring the reports vision to life the Government, the NHS, regulators and research funders need to act together.

See original here:
Greater access to genetic testing needed for cancer diagnosis and treatment - Cancer Research UK

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