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Category Archives: Genetic Medicine

New Medical Geneticists Join Ted Rogers Centre for Heart Research – Newswise (press release)

Newswise TORONTO, September 6, 2017 The Ted Rogers Centre for Heart Research today announces that Dr. Raymond Kim is its newest scientific lead, guiding efforts at the countrys only clinic devoted to cardiac genomics.

The Ted Rogers Centre Cardiac Genome Clinic is Canadas first such program to investigate the genetic causes of heart failure in both children and adults. At one of the worlds only cardiac genome clinics, researchers use whole genome sequencing to help identify the cause, formulate appropriate treatment options and optimize the management of patients and family members.

Genomics is a major part of our mission to better understand the nature of heart failure in order to develop novel treatments and preventative strategies, said Dr. Mansoor Husain, executive director of the Ted Rogers Centre. We are excited to have Raymond on board to build a unique program that is set up to have a very positive impact on heart failure care across the lifespan.

Dr. Kim, one of a handful of dual-trained internal medicine and medical genetics specialists in Toronto, is a rising star in medical genetics. He holds appointments at the Division of Clinical and Metabolic Genetics at SickKids, at the Fred A. Litwin Family Centre in Genetic Medicine that is jointly run by UHN and Mount Sinai Hospital, and at the Princess Margaret Cancer Centre. His research interests include genomic medicine, rare disorder registries and weaving novel genetic technologies into patient care.

Dr. Kim will co-direct the Cardiac Genome Clinic along with fellow medical geneticist Dr. Rebekah Jobling (SickKids), who is medical geneticist in the SickKids Division of Clinical and Metabolic Genetics and molecular geneticist in its Genome Diagnostics Molecular Laboratory.

The clinic opens up the incredible opportunity for families facing cardiovascular issues to have a team of scientists search for answers in the genome, said Dr. Kim. Genome testing will gradually become a normalized part of care, and we are at the forefront of this evolution, and are already helping shape best practices in this area.The addition of unique team members like Dr. Jobling makes our team world-class.

Dr. Kim joins three other scientific leads of the Ted Rogers Centre for Heart Research: Dr. Seema Mital, Dr. Heather Ross, and Professor Craig Simmons who are respective experts in genetics, heart failure, and cell and tissue engineering. Together, they are helping direct a vast, collaborative effort to change the lives of Canadians who live with, or are at risk of, heart failure a costly disease that is a global epidemic.

ABOUT THE TED ROGERS CENTRE FOR HEART RESEARCH

The Ted Rogers Centre for Heart Research aims to develop new diagnoses, treatments and tools to prevent and individually manage heart failure Canadas fastest growing cardiac disease. Enabled by an unprecedented gift of $130 million from the Rogers family, the Centre was jointly conceived by its three partner organizations: The Hospital for Sick Children, University Health Network, and the University of Toronto. Together, they committed an additional $139 million toward the Centre representing a $270 million investment in basic science, translational and clinical research, innovation, and education in regenerative medicine, genomics, and the clinical care of children and adults. It is addressing heart failure across the lifespan. http://www.tedrogersresearch.ca / @trogersresearch

To transform the care of children and adults with heart failure through discovery, innovation and knowledge translation.

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New Medical Geneticists Join Ted Rogers Centre for Heart Research - Newswise (press release)

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Shares of drugmaker that targets gene mutations soar after positive muscular dystrophy study – CNBC

Shares of Sarepta Therapeutics soared 12 percent in early trading Wednesday after the biopharmaceutical company reported positive results from a clinical trial of an experimental medicine for Duchenne muscular dystrophy.

The drug, golodirsen, would be Sarepta's second to treat the rare, genetic disease, which causes muscle wasting and can be fatal before patients turn 30. Sarepta focuses on the discovery and development of precision genetic medicines to treat rare neuromuscular diseases.

The new study, conducted in Europe, involved 25 boys with confirmed deletions of the DMD gene amenable to skipping exon 53. Exons are part of the DNA code. The treatment targets a genetic mutation affecting about 8 percent of patients with DMD.

Sarepta's first drug for DMD, Exondys 51 approved on a conditional basis by the FDA last year pending more testing to confirm results treats a mutation affecting about 13 percent. Exondys 51 costs about $300,000 per year.

"Our goal is to treat 100 percent" of DMD suffers, Sarepta CEO Doug Ingram told CNBC's "Squawk Box." "The data that we have this morning shows we're on the right path."

The results, announced before Wall Street's open bell, showed that golodirsen increased production of the protein dystrophin to 1.02 percent of normal levels from about 0.095 percent without the drug. Analysts said those results were higher than expected, but scientists wonder whether that's enough to increase muscle strength and have a clinical benefit.

According to Sarepta, the underlying cause of DMD is a mutation in the gene for dystrophin, which is an essential protein involved in muscle fiber function. DMD occurs in one in every 3,500 to 5,000 males worldwide. Symptoms usually start in early childhood, usually between 3- and 5-years old. It primarily affects boys. But in rare cases can affect girls.

"Sarepta is a small company. We have already invested $1 billion fighting Duchenne muscular dystrophy. And we're not done yet," said Ingram, who was appointed as CEO in July. Ahead of Wednesday, Sarepta had a stock market value of $2.6 billion.

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Shares of drugmaker that targets gene mutations soar after positive muscular dystrophy study - CNBC

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New UCSF Program Aims to Advance Equity in Genomic Medicine in the Bay Area – UCSF News Services

A team of UC San Francisco researchers will receive $11.7 million over four years from the National Institutes of Health (NIH) to launch a new Program in Prenatal and Pediatric Genomic Sequencing (P3EGS) at UCSF. The program is aimed at pursuing equity in the implementation of genomic precision medicine for children and families in the San Francisco Bay Area.

Genomic precision medicine is a broad effort to connect the vast amounts of genetic sequencing data that have been collected in the past decades with information about human population health in order to understand why individuals respond differently to sickness and medical treatment, and to apply this knowledge toward developing more precise diagnostics and therapies targeted to the needs of particular patients and groups.

To advance equity in precision medicine within the Bay Area, the P3EGS team will recruit 1,100 families with children with potential prenatal or pediatric genetic disorders drawn from a diverse set of backgrounds, including medically underserved communities. P3EGS will not only provide state-of-the-art genomic assessments to these families, but also provide genetic counseling, develop software to aid in displaying and communicating genetic data in community clinics, and study the long-term benefits of providing genetic sequencing for these families and children as well as identify the barriers they face in accessing care.

The effort leverages the outstanding clinical, genomics, informatics, bioethics, health economics, and medical anthropology expertise that together form a robust genomics infrastructure at UCSF. The P3EGS team will be helmed by four leading members of the Institute for Human Genetics (IHG) at UCSF:

Neil Risch, PhD, the director of the UCSF Institute for Human Genetics, notes that P3EGS will be among the first users of the newly approved UCSF Whole Exome Sequencing service hosted by the Genomic Medicine Initiative, which he co-directs with Kwok.

Patients will be recruited from the diverse communities served by UCSF Benioff Childrens Hospital Oakland, UCSF Benioff Childrens Hospital San Francisco, UCSF Betty Irene Moore Womens Hospital, and Zuckerberg San Francisco General Hospital (ZSFGH).

Funding for the P3EGS program is part of $18.9 million being awarding by the NIH this year toward research accelerating the use of genome sequencing in clinical care at six sites across the United States, called the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium. The consortium is funded by the National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI), both part of NIH, and it builds upon an earlier Clinical Sequencing Exploratory Research (CSER) Consortium, initiated in 2010, which included an award to Koenig and colleagues to study the ethics of informing family members of participants in cancer biobank research about unanticipated genetic findings.

The CSER2 awards are designed to support the development of methods needed to integrate genome sequencing into the practice of medicine, improve the discovery and interpretation of genomic variants, and investigate the impact of genome sequencing on health care outcomes. In addition, the funds are intended to generate innovative approaches and best practices to ensure that the effectiveness of genomic medicine can be applied to all individuals and groups, including diverse and underserved populations, and in health care settings that extend beyond academic medical centers.

The full press release about the CSER2 awards is available on the NHGRI website

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Genetics put some older women at higher risk than men for Alzheimer’s – USC News

White women whose genetic makeup puts them at higher risk for Alzheimers disease are more likely than white men to develop the disease during a critical 10-year span in their lives, according to a study headed by Keck School of Medicine of USC researchers.

The findings from one of the worlds largest big-data studies on Alzheimers counter long-held beliefs about who is at greatest risk for the disease and when, suggesting new avenues for clinical trials.

Study results show genetically vulnerable 55- to 85-year-old white men and women have the same odds of developing the memory-erasing disease. One exception: From their mid-60s to mid-70s, these women still face significantly higher risk. That may provide clues to disease causes and potential interventions among these women.

Our discovery is important because it highlights how clinical trials could be weighted toward women a susceptible part of the population to help scientists more rapidly identify effective drug interventions to slow or cure Alzheimers, said Arthur Toga, director of the USC Stevens Neuroimaging and Informatics Institute at the Keck School of Medicine among the nations leaders in innovative scientific discovery.

The study was published Aug. 28 in the Journal of the American Medical Association Neurology. It included data from 57,979 North Americans and Europeans in the Global Alzheimers Association Interactive Network (GAAIN). This big-data project provides scientists around the world with shared data and sophisticated analysis tools to address a disease that makes up about 65 percent of the 47 million cases of dementia worldwide.

The results contradict a seminal 20-year-old study that found women with one copy of ApoE4, a gene variant linked to Alzheimers, were diagnosed with the disease 50 percent more often than men with the same genetic profile.

The findings presented in the USC-led study expand the number of participant data by ninefold and indicate the critical decade falls between 65 and 75, more than 10 years after the start of menopause. Previous studies in animals and humans have reported a relationship between ApoE4, menopause and cognitive decline.

So much work has been dependent on one 1997 finding, but with tools like GAAIN, we now have the ability to reinvestigate with increased statistical power, Toga said.

The new findings are significant because almost two-thirds of the more than 5 million Americans now with Alzheimers disease today are women.

The new findings are significant because almost two-thirds of the more than 5 million Americans now living with Alzheimers disease are women, according to the Alzheimers Association.

Many attribute the imbalance in disease risk to the fact that women, on average, live longer than men. However, a growing body of evidence suggests other reasons also contribute to the difference. For instance, men have higher rates of heart disease and stroke. So, men who live longer may be healthier than women of the same age and may face less risk of developing Alzheimers, according to the USC-led study.

In the future, doctors who want to prevent Alzheimers may intervene at different ages for men and women, said Judy Pa, co-author of the study and an assistant professor of neurology at the USC Stevens Neuroimaging and Informatics Institute.

Menopause and plummeting estrogen levels, which on average begins at 51, may account for the difference, Pa said. However, scientists still dont know what is responsible. Researchers need to study women 10, 15 or even 20 years before their most vulnerable period to see if there are any detectable signals to suggest increased risk for Alzheimers in 15 years.

Only some women are at increased risk of developing Alzheimers in their mid-60s to mid-70s compared to men. To find out, women could have their DNA analyzed. However, Pa cautions that genetic testing for the ApoE4 variant is no crystal ball.

There is controversy in terms of whether people should know their ApoE status because it is just a risk factor, Pa said. It doesnt mean youre going to get Alzheimers disease. Even if you carry two copies of ApoE4, your chances are greatly increased, but you could still live a long life and never have symptoms.

Even if some women discover they are at heightened risk, they can improve their odds by making life changes.

Get more exercise. Work out your mind, especially in old age.

Judy Pa

Get more exercise. Work out your mind, especially in old age, Pa said. Pick up hobbies that are cognitively or physically challenging. Reduce processed sugar intake because its linked to obesity, which is associated with many chronic diseases.

Alzheimers disease is the fifth-leading cause of death for Americans 65 and older, but it may one day outpace the nations top two killers heart disease and cancer. Alzheimers-related deaths increased by nearly 39 percent between 2000 and 2010 while heart disease-related deaths declined 31 percent and cancer deaths fell 32 percent, according to the Centers for Disease Control and Prevention.

Because Alzheimers disease has a huge impact on lifelong health, USC has more than 70 researchers dedicated to the prevention, treatment and potential cure of the memory-erasing disease. Big data projects like this require experts across disciplines computer science, biology, pathophysiology, imaging and genetics to coordinate.

For this study, the researchers examined data from 27 different studies that assessed participants ApoE gene variation, as well as characteristics such as sex, race, ethnicity, diagnosis (normal, mild cognitive impairment or Alzheimers disease) and age at diagnosis.

The records of nearly 58,000 people were scrutinized. Meta-analyses were performed on 31,340 whites who received clinical diagnoses sometime between ages 55 and 85.

The proportion of minorities was so small that analysts could not draw statistically significant conclusions about their disease risk. Because of this, the study focused on whites only.

Most of the archives around the world have insufficient numbers of underrepresented groups, Toga said. One of the take-home messages from our study is people of all races and ethnicities need to be involved in Alzheimers clinical trials because this disease is a problem that affects all of us.

The current findings need to be confirmed in more diverse study populations.

USC is working to build more diverse population studies related to Alzheimers. Established in 1984, the Alzheimer Disease Research Center at the Keck School of Medicine reaches out to communities in the greater Los Angeles area to educate the citys diverse population about Alzheimers and the clinical trials they might be interested in joining. Previous studies, for example, have focused on Latinos.

Historically, women have not been adequately represented in clinical trials, especially in studies on heart disease. Women need to be represented equally to men or even overrepresented, Pa said.

The bottom line is women are not little men, Pa said. A lot more research needs to target women because gender-specific variations can be so subtle that scientists often miss them when they control for gender or use models to rule out gender differences. Most research today is ignoring a big part of the equation.

The study was made possible because of lead author Scott Neu, a leader in the development of a federated approach to analyzing metadata and assistant professor of research at the Laboratory of Neuro Imaging at the Keck School of Medicine.

GAAIN the free resource we created in conjunction with the Alzheimers Association allows anyone to explore data sets around the world and conduct preliminary analyses to test scientific hypotheses, Neu said. Our goal is to connect scientists with those who have collected data to create new collaborations to further research and understanding of Alzheimers disease.

Analysts excluded people with a history of stroke, cerebrovascular disease, abnormal proteins that contribute to Parkinsons disease and dementia, gene mutations leading to higher levels of toxic amyloid brain plaques and any known neurological diseases.

Scientists did not adjust for known Alzheimers risk factors such as education, family history of Alzheimers or dementia because that information was not provided in all data sets. They also were unable to adjust for sex-dependent differences such as cigarette smoking, hormonal changes with age and alcohol usage.

The study was supported by the Alzheimers Association through the Global Alzheimers Association Interactive Network initiative (GAAIN-14-244631) via a $5 million grant and a portion of two National Institutes of Health grants: $12 million from Big Data to Knowledge (U54-EB020406) and $5 million from neuroimaging and genetics (P41-EB015922).

More stories about: Alzheimer's Disease, Research

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Genetics put some older women at higher risk than men for Alzheimer's - USC News

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Genetic tests are everywhere, but how reliable are they? – The Boston Globe

Illustration by cristina span/for the boston globe

The Greeks asked their oracles to predict future fortunes and future losses. The Romans studied the entrails of sacrificed animals for similar reasons. In modern-day medicine, though, soothsayers come in the form of genetic tests.

Ever since the human genome was sequenced almost 15 years ago, tens of thousands of genetic tests have flooded the marketplace. By analyzing someones DNA, often through a blood sample or cheek swab, these tests promise to foretell whether a patient is prone to certain cancers, blessed with the potential to become a star soccer player, or at an elevated risk of having an opioid addiction.

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These types of genetic tests are finding an eager audience. The North American genetic testing market, already the largest in the world, was worth $11.9 billion in 2016, by one estimate, and is expected to grow at more than 15 percent a year for the foreseeable future. Companies such as LabCorp, which offer genetic tests via doctor recommendations, and the healthcare giant Roche have moved aggressively into the field. The company 23andMe, a household name because of its ancestry tests, sells health-related tests directly to consumers.

But for a source of medical information to be legally sold in the United States, just how accurate does it need to be?

Like a prediction from a crystal ball, genetic test results are sometimes wrong. Some tests that predict the likelihood a young pregnant woman will have a child with a genetic condition such as Down syndrome may only be correct only 60 percent of the time. Most genetic tests, and many other lab tests, go unvetted by the Food and Drug Administration. That means these tests may not undergo any independent review to make sure they accurately pick up the disease or genetic conditions they claim to be seeking.

Using the worlds first portable DNA lab to sequence beer is a cool thing to do.

The FDA has been wrestling for years with whether and how to do more. During the Obama administration, the agency proposed a new set of draft limits on a whole class of tests, and then put them on hold immediately after Donald Trumps election. This spring, the FDA gave 23andMe permission to market genetic screenings for susceptibility to Alzheimers, Parkinsons, and other conditions. It was the first time the agency blessed direct-to-consumer tests for genetic health risks.

While the debate over genetic testing often follows a pattern familiar from countless other industries business groups want less regulation, and consumer advocates favor more it also raises more cosmic questions: Is a medical test just a piece of information? Or is it something more, if its result leads to dramatic or irreversible action such as chemotherapy or an abortion? And if a data point is factually suspect, or ripe for misinterpretation, when and how should it be offered to consumers?

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Especially if regulators stand aside, Americans may soon be swimming in even more tests that vary greatly in their reliability. Yet for some people contemplating a current ailment or their future well-being, getting an answer even an unreliable one may be better than no answer at all.

Especially for people expecting a baby, genetic tests can be hard to resist. I think we all are wanting to know our child doesnt have something... we want them to be healthy, said Mischa Livingstone, a filmmaker and professor who lives in California. Without asking for it, his pregnant wife, Jessica, was given a genetic test that predicted a 99 percent chance their child would have Turner syndrome, a genetic condition that can lead to short stature, heart defects, and other symptoms. But genetic tests for Turner are more often wrong than right a fact the couple didnt know at the time.

They were devastated, and immediately went for more invasive testing, which showed the fetus was fine. But their sense of dread didnt lift until their daughter, now 2 1/2, was born perfectly healthy.

Despite the heartache a faulty genetic test result caused, Livingstone says hed consider asking for one again. I think it feeds into that need for certainty, he said.

Both individuals and society as a whole are intolerant of the unknown, medical sociologists say.

Long before genetic screenings, there was a critical relationship between lab tests and medical treatment. Doctors often wont prescribe drugs or treatment without a positive test result. Insurance payments are rarely processed without diagnostic codes. The rise of genetic testing wont change, and may even amplify, that dynamic.

While some diagnoses may still carry social stigma think schizophrenia, for example they more often may confer legitimacy. Having a gene for alcoholism, for example, can make people view the problem as biological, as opposed to a character flaw. For patients, genetic tests promote a therapeutic optimism a hope that they can be treated and cured for an immediate problem or a future one, according to Michael Bury, professor emeritus at Royal Holloway, University of London, who studies society and illness.

A test alone can feel like a step forward. Undergoing a screening, said Natalie Armstrong, professor of healthcare improvement research at the University of Leicester, can make people feel that at least they are doing something proactive.

Interestingly, one study indicated that certain direct-to-consumer genetic tests dont affect users behavior or anxiety levels, bolstering the argument that people may use the information as data points, not a surefire prediction of their own fate.

Many bioethicists are unpersuaded. On an individual basis, it is tempting to discount the pitfalls of a little extra information, says Beth Peshkin, an oncology professor and genetic counselor at Georgetown Lombardi Comprehensive Cancer Center in Washington, D.C. But on a population level the implications of inaccurate results can be costly and, sometimes, deadly.

One of the most cited examples of this harm is from a 2008 genetic test for ovarian cancer that misdiagnosed women, some of whom had their ovaries removed unnecessarily before the test was pulled from the market. Because test makers do not have to report when a test turns out to be wrong in fact many people may never know when a test result is a false positive or negative FDA officials have said it has been almost impossible to assess the overall harm from all unregulated tests.

Cost is another concern that may arise from the overuse of genetic tests that proliferate without meaningful oversight. Tests often beget more tests that cost an ever-escalating amount of money. Enough testing, will invariably pick up something abnormal in a patient, even though it may not harm them, some experts believe.

In some ways its easy for us to try and find something definitive and act on that even though it has nothing to do with what is wrong with the patient, said H. Gilbert Welch, a cancer research at Dartmouth College who has written extensively on the dangers of overtesting. Genetics is an amazing tool... but to what extent does that data predict something that you care about? Is it useful knowledge?

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The American Clinical Laboratory Association, the key trade group for genetic test makers, and other advocates of lighter regulation argue that bad tests are rare, and that its more important for the free market to allow innovation. With more tests in place to identify disease, cures come next, they say.

So far, the public has shown little concern about the fallout of genetic testing. While a 2016 poll showed only 6 percent of American adults have undergone genetic testing, 56 percent of them said they would want to if it could predict cancer or a disease like Alzheimers. Most Americans, the poll found, believe genetic tests for predicting disease are mostly accurate and reliable.

Safety advocates best chance to tighten regulation may have already passed. The world of genetic testing becomes more free-wheeling and consumer-driven all the time. By one industry estimate, 10 new genetic testing products enter the market each day. Despite considerable skepticism from medical experts, new apps purport to use data from gene sequencing to develop personalized diet plans and fitness routines.

The FDAs now-shelved rules would have classified genetic and other tests according to how much harm they could cause if their result was wrong. For example, a new genetic test for colon cancer, which requires intrusive and costly treatment, likely would have been subject to full FDA review; the maker of a test that predicts mere baldness might only have had to register it with the agency and report any known problems with it. Under the Trump administration, the agency appears less likely to draw such distinctions or impose new restrictions at all.

People want answers soon, and their inclination is to believe what appears to be solid, unassailable medicine, said Robert Klitzman, a Columbia University bioethicist. Individuals will need to evaluate these tests carefully. The notion of being able to tell your fortune has great lure. But its a little bit of hubris. We still dont know so much.

Genetic testing, still in its infancy, promises a measure of clarity about the future of our bodies. But as genetic science rapidly evolves, that modern-day crystal ball raises vexing new questions and creates its own kind of uncertainty.

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Genetic tests are everywhere, but how reliable are they? - The Boston Globe

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This Last-Resort Test Saved 2 Women From CancerAnd It Could Save You, Too – Prevention.com

But despite rounds of surgery and radiation and chemotherapy, the cancer kept coming back. Eventually, her prognosis shifted from very hopeful to very dim, Christine says. (Here are 8 things every woman needs to know about ovarian cancer.)

I had two young children and I was being told, basically, to get my affairs in order, she says. I was not given much hope. In fact, Christine was told she had around a month of "good-quality life" left to live.

It was around this time, early 2014, that her doctor at Cancer Treatment Centers of America proposed genomic testing. I had never heard of this form of testing before, she says. It was completely new to me. Considering the bleakness of her prognosis, she was excited to hear she had a hopeful new option.

Considering where I was, to be able to live a normal life and look forward to watching my kids grow up is amazing.

Her doctors sent her tumor cells to the labs of Foundation Medicine. Their tests identified mutations within the DNA of Christines tumor cells that indicated she might respond well to a targeted drug therapy called everolimus (trade name Antifor), which is normally used to treat renal (or kidney) cancer. She started on everolimus in 2014.

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It was a drug interventionI take a pill every day with a glass of water, she says. After three years on the drug, her cancer has retreated: Ive had completely clear scans and my cancer is in remission."

I never would have thought this was possible, she adds of the seemingly miraculous outcome. Considering where I was, to be able to live a normal life and look forward to watching my kids grow up is amazing.

What Is Genomic Testing?Every cell in your body contains 20,000 to 30,000 genes. By examining those genes for abnormalities or mutations, genetic testing can determine if the makeup of your DNA puts you at greater risk for certain types of cancer. (This is what it's like to be tested for the breast cancer gene.)

The test offered by Foundation Medicine and other genomic testing companies is slightly different in that it also examines the genetic makeup of tumor cells.

By sequencing the genes within a persons tumor cells, the test can in some cases identify mutations that may respond to new and more-targeted treatment options, says Kojo Elenitoba-Johnson, MD, a professor of pathology and laboratory medicine and director of the Center for Personalized Diagnostics at the University of Pennsylvania Perelman School of Medicine.

MORE: 7 Warning Signs Of A Brain Tumor You Should Know

Genomic testing can also eliminate treatment optionsan outcome Elenitoba-Johnson says is also useful. This can prevent wasteful and counterproductive treatment courses, and it saves critical time that may be wasted in applying the wrong therapy, he explains.

Watch this moving video of strangers talking about their metastatic breast cancer:

It's important to note that, while drug companies are developing new treatments all the time, drugs do not exist for every genetic mutation, he adds. There are many more mutations than there are therapies at this point. Whether or not insurance will pay for the test or treatments also depends on the specifics of your situation and coverage.

PREVENTION PREMIUM: The One Thing That Got Me Through Cancer And A Divorce

Another Success StoryLike Christine Schmidt, Colleen Farrell was youngjust 33when she was first diagnosed with cancer.

In the summer of 2014, Id started feeling run down, she recalls. I started napping every day, which was totally unlike me, and I had discomfort in my lower back.

Doctors initially pegged her discomfort as a pulled muscle. But by that fall, they had identified a tumor. Colleen had advanced colorectal cancer. (Every woman should know these 5 signs of colorectal cancer.)

I was Stage 4, so it was bad, she recalls. It wasnt quite, Go home and plan your funeral, but it was, Be aware that you might have to soon.

MORE:7 Things That Surprised Me About Going Through Chemotherapy

Despite radiation and chemo, the cancer soon spread to her liver and both her lungs. I was blown awayjust devastated, she says. Things were very grim.

The images came back showing that not only had the tumors not grown, but theyd started to recede.

Her doctors told her about genomic testing, and that it could open doors to new treatment options. They told me some people were having success, but there were a lot of unknowns, she recalls. I asked what my odds were without it, and they told me a couple of months, so I obviously wanted to try it.

The results her doctors got back from Foundation Medicine indicated her cancer might respond to immunotherapy (here's how it works). I started it in March of 2016, she says. Eight weeks later, I had my first scan, and the images came back showing that not only had the tumors not grown, but theyd started to recede.

She says her doctor was floored. Back when her rectal tumor had first been discovered, it had measured 12 centimeters. After just one course of the new treatment, it had shrunk to 7 cm. My doctor couldnt believe how well it was working, she says.

MORE: 11 Women Share The Surprising Ways They Discovered They Had Cancer

In fact, the new medication almost worked too well. I ended up having three massive hemorrhages and almost died because my tumor shrank so quickly that all the blood vessels and organs that were smushed up suddenly started pumping blood again, she says. So that tells you how quickly it worked.

Colleen says shes not completely out of the woods. But I never thought Id be where I am today, she adds. I think all the time how lucky I was to have benefited from thisthat I could try itbecause not everybody can.

Whos A Candidate For Genomic Testing?As recently as a few years ago, the type of gene sequencing performed during this test would have cost millions of dollars and taken years, not days, to complete, Elenitoba-Johnson says.

Because the genomic testing platform is so newand many of the associated treatment options are still in clinical trialsgenomic testing may only be appropriate when conventional approaches like chemotherapy have failed, he says. (Here are 5 misconceptions you probably still have about chemo.) It really depends on the type of cancer a person has.

For some forms of leukemia, the knowledge of the disease response is pretty mature, and so the first-line management is receiving this test and one of these new targeted therapies, he explains. In other cases, drugs [targeting the mutations] have only recently become available, and knowledge of their effectiveness and side effects is not as well-understood.

He mentions lung cancer, colorectal cancer, and melanoma as other forms of cancer for which genomic testing may be appropriate. But again, it depends on the individual patient and the specifics of their cancer.

MORE: 7 Skin Cancer Symptoms You Can't See

Needless to say, the science of cancer diagnostics and treatment has entered a new and exciting phase. Genomic testing, coupled with newer, more-targeted therapies, is already saving lives.

The future is here, and it is bright. But theres a lot more work to be done.

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This Last-Resort Test Saved 2 Women From CancerAnd It Could Save You, Too - Prevention.com

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