Talk

The only recent coverage I’ve seen so far about the FDA’s relabeling of tamoxifen on is from the PGx Reporter, which is subscription-only. Here’s their public excerpt:

FDA Panel Leans Toward Including CYP2D6
Dx in Tamoxifen Label, But is Split on Language

The Pharmaceutical Science Clinical Pharmacology Subcommittee was split over whether the label should “recommend” the genetic test or make it an “option” for health care providers and patients to discuss.

As it considers just how strong the wording on the label should be, the FDA is looking at the role of endoxifen (the active metabolite), 2D6, and drug interactions.

We’re getting many inquiries ourselves into the Tamoxifen 2D6 Test. Here are recently asked questions and answers, and previous posts on Tamoxifen and 2D6 Testing.

Technorati Tags: tamoxifen, cyp2d6, genes, drug metabolism, fda recommendation, drug interactions, genetic test, dna

Have you had a blood clot or DVT? If so, chances are you’ve been on warfarin (brand name: Coumadin). Warfarin, a blood-thinner, is the most commonly prescribed drug for preventing and treating blood clots.

Warfarin is also known to be a difficult drug to manage, for two reasons. First, the blood levels in which warfarin is effective are very narrow, which means doctors need to carefully calibrate the dose. Secondly, people have a wide range of responses to it, which means calibrating the dose is more challenging.

Kimball Genetics (a laboratory) has just launched a genetic test for warfarin sensitivity, which better predicts an individual’s response to warfarin. This test can help your doctor determine the warfarin dosage that’s best for you — lowered risks, maximum effectiveness. (more…)

If you or someone you love is considering genetic testing for breast cancer, you must read Aliyah Baruchin’s article, “In Breast Cancer, There Is a Single Agenda: Stay Alive” from last week’s NY Times. She eloquently writes about her experience, illustrating the complexity women face when considering the BRCA test.

“I was petulant about BRCA testing from the moment it was first mentioned to me,” she begins.

After I had a mastectomy, though, the idea of more surgery became unmanageable. Losing a breast was extraordinarily difficult. The body wants its own coherence; it objects, in the most strenuous terms possible, to any structural loss. No more parts for sale to the lowest bidder, was all I could think afterward. Everything else I have, I want to keep.

But here’s the important thing, the thing I learned that changed me for good: in practical terms it was all bluster. I was 43, a working journalist, with a 3-year-old daughter and a remarkable husband. Of course I was going to be tested.

(more…)

I just returned from vacation to find a great article in National Geographic about how genomics is - and will increasingly - affect the practice of medicine: Personalized Medicine Promises Tailor-Made Diagnoses, Treatments

Here’s a clip to encourage you to go check it out:

The genetic variations can be used to identify susceptibility to a particular disease and to pinpoint targets for drug treatments.

Currently drug courses are often ineffective. Physicians may have to prescribe several different treatments before identifying one that works.

“Personalized medicine is about changing the medical paradigm,” said Edward Abrahams, executive director of the Personalized Medicine Coalition in Washington, D.C. “It promises to replace trial-and-error medicine with a more targeted get-it-right-the-first-time approach.”

(more…)

Ryan (the CEO and founder of DNA Direct) and I just returned from an FDA meeting where members of the Clinical Pharmacology Subcommittee, a group composed of doctors and researchers, made an important decision about the breast cancer drug tamoxifen. As Lisa Lee described last week, the purpose of this meeting was to decide whether to recommend changing the tamoxifen package insert, also known as the drug label, to include information about how the 2D6 gene is a predictor of response to tamoxifen.

Clearly the decision of the Subcommittee is a historic moment, both for the emerging field of pharmacogenetics (or how genes influence a patient’s response to drugs) and, most importantly, for the breast cancer community. After all, hundreds of thousands of women are on the drug tamoxifen, and more women are put on the drug every day. The fact that some of them may not be receiving full benefit from tamoxifen because of their genes — therefore increasing their risk of cancer recurrence — could not be more important for breast cancer patients to know about.

So, what did the Subcommittee recommend? (more…)

October’s issue of Business 2.0 is titled “The Next Disruptors: Meet 11 Companies Whose Breakthroughs Will Change Everything.” We are the first health company profiled, in the article “The Gene Screen.” And that’s Ryan, our CEO, juggling the helix.

Rather than give you a blow-by-blow of their commentary on our company, our new tests (pharmacogenetics), and such, let me encourage you to read the article. See what the folks at Business 2.0 have to say. They pretty much cover all the bases.

Technorati Tags: genes, genetic testing, drugs, medications, pharmacogenetics, business 2.0

Yesterday in San Francisco, thousands of people turned out for the Race for the Cure, a fundraising event put on by the Susan G. Koman Foundation for breast cancer awareness. Every year with few exceptions I have raced in honor of my mother, who was first diagnosed with breast cancer at age 35. She is a testament to what it means to be a survivor, zealously pursuing a life defined not by so many surgeries and recoveries but by her love for family, friends and personal interests. My mother has never considered herself a patient or a victim. She is, as my grandmother once put it, “a fireball that descended on Phoenix in 1960 and has been lighting things up ever since!”

As you know from the previous post, it’s also ovarian cancer awareness month. What does breast cancer have to do with ovarian cancer? A small percentage of people have hereditary forms of these cancers, which are caused by inherited changes in the BRCA1 or BRCA2 gene. These gene changes put you at increased risk for both ovarian and breast cancer.

Genetic testing is available, but it’s not for everyone — and it should be done in concert with genetic counseling.

Read more:

• How Breast & Ovarian Cancers Are Inherited
• The BRCA Genes and What They Do
• Considering Genetic Testing for Breast & Ovarian Cancer
• FORCE: Facing Our Risk of Cancer Empowered. FORCE is a nonprofit organization for women with increased risk of cancer due to family history and genetic status, and for members of families in which a BRCA mutation may be present.
• Genetic testing services at DNA Direct

Technorati Tags: breast cancer, ovarian cancer, hereditary cancer, inherited cancer, BRCA1, BRCA2, genetic testing, race for the cure, susan g koman foundation

As expected, the discussion about FDA regulation of genetic testing as a fallout of the GAO investigation is heating up. Today in “The Wide, Wide World of Genetic Testing“, Andrew Pollack summarizes the current landscape — who’s out there, why regulation is difficult, what proponents say, what critics say, what’s at issue.

He quotes Kathy Hudson (director of the Genetics & Public Policy Center at Johns Hopkins) as saying, “I think it’s impossible to discern which companies are reputable and which are reprehensible.” I disagree: I have every faith that consumers can be savvy about snake oil versus science. People making a significant purchase — and genetic tests aren’t cheap — do look for the details. (Just ask anyone who’s gone shopping online for a digital camera.) People making significant healthcare decisions do want, need and require context.

That said, at this time it is difficult to discern who is legit and who isn’t. There isn’t a seal of approval or certification for genetic testing companies. There isn’t one place, for example, that consumers can go to see if a company meets acceptable standards. As Pollack points out, current lab certification (CLIA) applies to whether the test is accurate (did it detect a gene?), not how it’s being sold (it can tell your fortune!).

As I said in an interview with Hsien Lei over at Genetics and Health, when she asked me about “your proactive approach to educating the public about genetic testing” and advice for other companies,

My advice? Transparency – it keeps you honest and it builds trust. Education – when you’re committed to educating others, you keep yourself up-to-date. Involvement – staying active in the community you serve keeps you compassionate. Lastly, never underestimate the intelligence of anyone seeking information. If they don’t understand, it’s simply because you haven’t found a way to explain it properly.

So you can be sure that those of us at DNA Direct will be actively engaged in regulation discussions. We want to bring access to testing, and figuring out the best way to do so is part of our mission.

Technorati Tags: genetic testing, regulation, legislation, fda, clia, guidelines, standards

New, Promising Treatments for Cystic Fibrosis. Forbes has a long article on two drugs, Inspire and Vertex, that are in late stage clinical trials. The article has a great explanation of how cystic fibrosis on a cellular level causes its symptoms - breathing, lung, and digestive problems. (Forbes online is free, but they require registration)

Affymetrix to Launch a 1 Million-SNP Microarray. The new GeneChip will debut early next year, at around $500. Affy is also dropping the price of its 500,000-SNP genotyping to $250. More heralds of the fast-approaching age of affordable genotyping.

Couples Select Embryos to Halt Inherited Cancer. Part of the NY Times’ series, “The DNA Age,” this article explains how preimplantation genetic diagnosis, or PGD, can avoid the tranmission of fatal conditions like Huntington’s Disease as well as significant cancer risk genes, as the family profiled in the article chose to do. This technology and the use of it raises ethical issues and has many talking about what it means that this technology may only be accessed by those with the significant financial means. The Times, as usual, has a balanced discussion.

Update: A Genetic Code for Breast and Colon Cancer. The first draft is in, and The Biotech Weblog has the scoop. This is very exciting! The promise lies in both detection (with tests like PreGen Plus) and with targeted treatment.

Technorati Tags: cystic fibrosis, clinical trials, genotyping, genetic testing, GeneChip, preimplantation genetic diagnosis, huntington’s disease, inherited cancers, breast cancer, colorectal cancer, diagnosis, treatment

Last week, the Senate Committee on Aging had a very public hearing on nutrigenomic testing, four Internet-based companies that offer it, and regulations for at-home genetic tests. The hearing was prompted by a probe conducted by the US Government Accountability Office (GAO).

Interestingly, my colleague Jason was pointing out these issues three years ago, when some of these companies began offering their services. He said, “…nutritional profiling remains a concept under study and is not ready for mainstream consumption.”

In November 2003, Nature ran Erika Check’s article “Consumers warned that time is not yet ripe for nutrition profiling”:

But many scientists argue that it’s far too early for most of these tests to be useful. “The idea of marketing any individual genetic test at this point assumes there is information to justify the use of that test, and we really don’t have evidence that any single genetic marker carries enough information to guide dietary treatments,” says Ronald Krauss, director of atherosclerosis research at CHORI.

Today in Nature, Gene Russo’s article “Home health tests are ‘genetic horoscopes’” provides a tidy bookend:

Advocates of testing point out that the dubious nutrigenetic tests are very different to legitimate, reliable at-home tests for diseases such as cystic fibrosis.

What’s the difference? A key issue that consumers need to look for when considering genetic tests: clinical accuracy, clinical validity, and clinical utility. They mean different things, and for someone considering genetic testing - at-home or otherwise – all three are very important.

Clinical accuracy, also called analytic validity, is the measure of a test’s performance. If a test is looking to see if you carry a particular DNA sequence, clinical accuracy is the degree to which the test will reliably identify that DNA sequence (or the lack thereof). For example, cystic fibrosis testing is over 99% accurate as conducted in certified laboratories. More than 99 out of 100 times, the test won’t incorrectly identify a DNA sequence.

Clinical validity has to do with what a test means. Knowing the DNA sequence isn’t enough; we need to know the degree to which the DNA identifies or predicts a particular condition in order for the test to be meaningful. With cystic fibrosis, we know that if someone inherits two known mutations in the CFTR gene (one from each parent), they will have cystic fibrosis.

Clinical utility. This is the degree to which we can do something in response to knowing about our DNA sequence. If we’ve got a clinically valid test result, we can do things like take preventive steps, make lifestyle decision, choose effective treatment options. If you and your partner are both carriers of CF mutations, you can understand your odds of having a child with CF and make family planning decisions accordingly.

A few other points in this GAO discussion that deserve clarification:

• Not all at-home genetic tests are nutrigenomic tests. There are at-home tests available for clinically valid tests, such as cystic fibrosis, that are recommended under certain circumstances by medical guidelines from physician organizations.

• Not all nutrigenomic tests are direct-to-consumer or at-home. Some tests are being offered at wellness clinics and through alternative medicine practitioners, nutritionists, and other healthcare providers.

I think the bottom line is, as with any decision regarding healthcare choices and medical treatments, be smart. Do your research. Consult with your doctor or doctors (second opinions are never a bad thing). If you’re looking for a miracle pill or a crystal ball, you’re probably not going to find it.

Read more:

• Time magazine’s coverage
• Companies targeted in the GAO probe: Sciona, Suracell, Genelex, Market America
• DNA Direct’s philosophy about all this

Technorati Tags: nutrigenomics, nutrigenetics, nutrition, genetics, genetic testing, direct-to-consumer

If you or someone you love has a history of bad drug reactions or adverse side effects, it’s time to become familiar with genetic testing for drug metabolism — and today’s “Morning Edition” on NPR offers the best introduction to this type of testing, called pharmacogenetics, that I’ve heard or read to date.

Many of you may have seen my previous posts on how genes can affect drug metabolism, so you know I’m very excited about the promise of this testing.

The thing that kills me about today’s piece on NPR is that yes, DNA Direct will soon be offering this testing, but no, we’re not selling the tests just yet. As Russ Altman of Stanford University and others point out in the NPR piece, pharmacogenetics is such a new science that most doctors didn’t learn about it in medical school. For this reason, we’re working with medical experts to develop information on how to interpret test results, so people and their doctors can make the best use of testing. All our testing will come with this personalized information.

In the meantime, our website, Genes & Drugs, has general information about how genes affect drug metabolism, how testing works, and drugs that are known to be affected by specific genes.

Technorati Tags: genes, drugs, drug metabolism, genetic testing, pharmacogenetics, PGx, Morning Edition, NPR

I am thrilled to see discussion in today’s NY Times about the promise of genetic testing for drug metabolism. In particular, I’m excited to see mainstream media discussion of tamoxifen efficacy and genotype.

Much has been made of research published in the past few months regarding aromatase inhibitors — to what degree they prevent breast cancer recurrence, long-term survival, overall survival, and to what degree they’re better than tamoxifen (current studies indicate ~2-3%). That’s very exciting.

What you’re not hearing about, and which could take treatment decision-making to a higher level, is research into gene variants that may indicate who is likely to respond to tamoxifen and who isn’t. This could alter what we’ve previously thought of as tamoxifen efficacy rates. Gina Kolata explains and quotes Dr. David Flockhart, a leading researcher in this area:

(more…)

Whenever there’s a flurry in the news about genetic testing, we get calls from people who just want to know: What can a genetic test tell you?

There are different types of genetic tests. Genetic tests that screen for “risk” may not be commonly known, but for certain people at certain times, they can be very useful. Knowing whether you have a genetic risk can help you make medical and life decisions — such as planning a family, selecting a form of birth control or starting hormone replacement therapy.

For example:

Risk for Blood Clots: Studies estimate that 60,000 to 200,000 people die each year from blood clots, including DVTs and PEs. At the high end, this condition kills more people than breast cancer, car accidents and AIDS combined. Most people don’t know that 1 in 20 Americans carry the Factor V Leiden gene, which — when combined with medical choices (hormone replacement therapy, birth control pills) or lifestyle factors (obesity, smoking) increases their risk for dangerous blood clots. If you have a genetic propensity for blood clots, you can take action, make different decisions, reduce your risk.

Risk for Iron Overload. About 35 million people in the U.S. — as many as 1 in 4 people of Irish descent, and 1 in 10 Caucasians — are at risk for a hereditary iron overload disorder that causes a wide variety of symptoms, inculding chronic fatigue, weakness, joint pain and arthritis. If undetected, iron overload can lead to serious problems, including diabetes, liver and heart disease. But with early detection, effective treatment can stop the progression of iron overload and even reverse some of the symptoms.

These are just two examples of how knowing about your genes — in a particular context — can help you make better decisions and live a longer, healthier life.

Technorati Tags: genetic testing, genetic risk, family planning, birth control, hormone replacement therapy, blood clots, Factor V Leiden, thrombophilia, iron overload, hemochromatosis

A visit with an old friend this weekend underscored my hope that the work we do today will change the lives of our children tomorrow. My friend is 36, the same age his father was when he was diagnosed with and died from colon cancer. My friend has a daughter who is 7, the same age his sister was when their father died.

Anniversaries and hallmarks like this have a way of reminding us of our risks and motivating us to do something about them. (I just reached the age at which my mother had her second breast cancer. Hello again, mammogram.)

From a very young age, my friend has done all the right things to prevent colon cancer, including having a recommended colonoscopy 10 years earlier than the age of his father’s diagnosis. (Colon cancer is slow growing, and it’s highly curable if nipped in the bud. That’s why high-riskers start screening early.)

This visit, I was excited to compare notes with my friend about PreGen-Plus, a DNA stool test for early detection. Since my company now offers this test, he wanted the inside scoop. As an interim screening between his regular colonoscopies (every 10 years), PreGen-Plus can reassure my friend (who is a worrier), that he’s on top of his insides. Should anything develop, PreGen-Plus is an extra step to make sure he catches it asap. That goes a long way toward prevention - and peace of mind, too.

Here’s everything you need to know about colon cancer, from the American Cancer Society: Colorectal Cancer Facts & Figures, Special Report 2005

If you think you don’t need to know about this, Katie Couric and Morgan Freeman will explain why you do.

Technorati Tags: colon cancer, risks, prevention, colonoscopy, PreGen-Plus, DNA stool test, colorectal cancer, Katie Couric, Morgan Freeman

Breast Cancer Chronicles’ has recent posts on preventive options and insurance considerations for women who carry a genetic risk for breast cancer (a BRCA1 or BRCA2 mutation).

“For women who are genetically positive, that is, who carry a gene that increases their risk of developing breast cancer, it’s important to take aggressive action to reduce your risk of following in your family member’s footsteps - or, as I like to say, of wearing her bra.”

Elissa, our clinical director, adds: Choosing to learn whether or not you’re a BRCA carrier is a very personal decision. If you are a carrier, the preventive choices you take are also very personal. As many of you may know, these decisions involve different things for different women - from sense of self, body, sexuality, youth, mortality, empowerment, fear, control, guilt and much more. In short, no decision surrounding BRCA is simple. Genetic counselors are healthcare professionals who can help women (and men) consider whether testing is right for them - weighing the pros and cons of testing, evaluating preventive options, and discussing implications for family members.

I like Lillie Shockney’s suggestion for handling the privacy/insurance issue, and think it is one that I will use if my mother tests positive:

“At $3400, it’s an expensive test. Some women pay out of pocket for the test up front. If the result is negative, they then seek reimbursement from the insurance company; if it’s positive, they never tell.”

Read more about who is at risk for BRCA1-2 mutations.

Technorati Tags: breast cancer, BRCA1, BRCA2, prevention, insurance, family risk, pros and cons

Some women carry multiple copies of a gene that metabolizes codeine into morphine. These women process codeine at much higher rates than the average person, which means that when they take an average dose of codeine, it is rapidly converted to unusually high levels of morphine.

For new mothers prescribed codeine after childbirth, this can be a tragic cocktail for their babies. A recent study in Canada reports the death of a newborn from morphine overdose via breast milk.

Babylune notes, “This is not a reason to stop nursing. This is a reason to stop taking codeine.” I say it’s also a reason to consider genetic testing for drug metabolism.

The gene involved in codeine metabolism is called CYP2D6. It metabolizes around 25% of all commonly prescribed medications. It’s also involved in the metabolism of some over-the-counter meds, herbal supplements, and even some foods. Knowing your genetic status is useful information if you’re prescribed or considering taking any drugs metabolized by CYP2D6.

Our company will soon be offering drug metabolism testing — and you can be sure I’ll be the first in line for it. Stay tuned!

Technorati Tags: codeine, morphine, breast milk, breastfeeding, painkillers and breastfeeding, medications and childbirth, CYP2D6, drug metabolism, genes, genetic testing

At a baby shower this weekend, I had one of my two regular party conversations. Someone says, “Genetic testing? Cool! Do you do all that CSI stuff?”

No, I don’t wield big flashlights and hang around crime scenes. DNA can tell more than one interesting story. In addition to forensics, DNA technology is used for…

Predispositional Tests. These tests can give you permanent, life-long insight. They look at your genetic makeup to see if you carry a gene that puts you at higher risk for a certain disease. This type of testing can also be used to confirm a diagnosis, or determine whether a condition you already have is genetically based.

Screening Tests. Similar to X-rays or other tests that record a moment in time, these tests look at a cell sample for “acquired” DNA mutations (not inherited) that can indicate whether a disease, such as cancer, is present in a part of the body.

Paternity Tests. This type of testing looks at the DNA of a mother, child, and the man thought to be the child’s father, to see if the man is indeed the biological father of the child.

Ancestry Tests. These tests look at your Y chromosome (men only) and mitochrondrial DNA for specific genetic markers that are unique to certain populations. These markers indicate your deep ancestry migration patterns, and thus, genetic ethnicity. (Have I raved about the Genographic Project yet?)

Drug Metabolism Tests. These tests tell you how quickly your body processes certain types off drugs, and whether or not you are likely to experience side effects or toxicity. For some drugs, testing will tell you whether the drug in question will be effective.

So what’s the other party question? “Can you test my dog to see what breeds he’s made of?” (No, not yet :-))

Recently, Ryan Phelan (DNA Direct’s founder and CEO) talked with Dr. Moira Gunn on NPR’s TechNation about home-kit genetic testing, the question of genetic discrimination, the importance of genetic counseling…and much more.

Listen to their conversation on BioTech Nation

If you’ve got questions for Ryan, join in the discussion and ask them here.

Technorati Tags: genes, genetic testing, genetic discrimination, discrimination, counseling, DNA

When newspapers announce that a gene has been discovered for a certain disease — such as the recent findings of genes involved in chronic fatigue syndrome, schizophrenia, and obesity — we inevitably get calls from people interested in testing for that genetic finding. But “finding a gene” can mean a few different things.

Finding the gene: Sometimes, researchers identify a gene that definitely causes a disease, such as the discovery of the gene for hemophilia or cystic fibrosis. Such a finding does not necessarily mean that a genetic test is immediately available or that researchers can cure the disease. However, it does mean that the medical community may be closer to a possible cure. Knowing the genetic origin of a disease can aid in diagnosis.

Finding one of many genes: In other cases, researchers discover a gene that plays a role in a small subset of people who get a common disease, such as the genes BRCA1 and BRCA2, which cause breast and ovarian cancer in some people. Again, finding these genes puts researchers one step closer to a cure or genetic test that can help certain people with the disease.

Finding a gene in animals: One way to understand gene function in humans is to find and manipulate a gene that causes an animal — such as the mouse or fruit fly — to show symptoms similar to a human disease. Animals have genes that are very similar to our own, so these discoveries help point researchers to the biological function of a human disease gene. However, it is a long path from finding a gene in flies or mice to finding a genetic treatment for a human disease.

Technorati Tags: genes, genetics, genetic testing, DNA

In an article entitled “Missing Links” (WSJ), Donald Moffitt explores how DNA testing has become the new trend in genealogy. He writes:

“DNA Testing has the hottest tool in geneaology, allowing amateur slueths like myself to graft and prune their family trees. The process is simple, involving little more than a swab of the inside of your cheek. Advances in lab technology, meanwhile, have brought the costs down to home-appliance levels. And for your efforts, you can learn, among other things, some of the ancient ethnic and geographic origins of your ancestry. But beware: DNA can open doors you can’t close.”

Moffitt relates his own interesting story. Testing in his family uncovered a new branch on the family tree and a mysterious stranger by the name of Rutherford, who could “almost be a genetic brother.”

“The tests first showed that all of us shared a straight paternal-line ancestor, perhaps with 100 million or more males in Wester Europe and the Americas. The patriarch seems to have fathered a Stone Age clan in northern Spain that survived, grew and drifted northward as the glaciers of the Ice Age began to melt…. But our tests also showed that the four of us shared an extrememly rare mutation along the Y chromosome, a DNA pattern that appears in only a few hundredths of 1% of the R1b population. That match…was a virtual guarantee of close kinship.”

DNA insights in hand, Moffitt’s historical research takes him back to colonial Virginia, where he eventually finds…drumroll…a Moffitt and a Rutherford who are neighbors. The rest? Well, that must be left to conjecture.

You can see the map of my haplogroup (R1b M343) at the Personal Genome

Technorati Tags: genes, ancestry, genetic testing, geneaology, haplogroup, R1b, M343

There’s a dramatic piece in the Washington Post today about how genetic testing can predict whether a person will process certain medications, or experience side effects. The Mayo Clinic has been using these tests, particularly with children and people with family histories of bad side effects. But this testing hasn’t hit mainstream usage…yet.

These genetic tests identify how you process certain liver enzymes.

“The most important liver enzymes in drug metabolism are the ones in the ‘cytochrome P450′ (CYP) family. They process 25 percent of all drugs, including those that cause the most adverse reactions — antidepressants, anti-psychotics, painkillers, beta blockers (which slow the heart rate and lower blood pressure) and drugs used to treat attention-deficit hyperactivity disorder (ADHD).

Say you take a drug that is mostly processed by the enzyme CYP 2D6. If your liver produces too much of this enzyme, it could over-process the drug and flush it right out of your body, and you’d get no therapeutic effect. If, on the other hand, your liver produces too little of the 2D6 enzyme or none at all, the drug wouldn’t be sufficiently broken down. Instead, it would build up in your bloodstream. You could overdose on what, for most people, would be a normal dose.”

Had these tests been available a few years ago, my mother could have been spared years of pain, illness and liver damage that resulted from trial-and-error drug regimens. Thankfully, we got her into the Mayo Clinic where she received the diagnoses that had eluded everyone else.

Like many, I believe this testing will become as commonplace as blood typing. It can lead to faster, more effective, more appropriate pharmaceutical treatment - which means better quality of life for people, and cheaper cost of care for insurers.

List of drugs processed by CYP enzymes
How drugs can interact with each other

Technorati Tags: drugs, medications, genes, genetic testing, p450, antidepressants, painkillers, beta blockers, ADHD

People are often asking our company if they can buy a test that will “scan my genes for everything.” No, not yet, but perhaps soon. Today’s Wall Street Journal has a cover story on technology that is leapfrogging genetic research and genetic testing.

Microarrays are small microchips coded to detect DNA sequences from a blood sample. They can scan 100,000s of gene variations at once – enabling researchers to conduct research that is significantly more comprehensive, faster, and cheaper than previous lab processes for genetic testing.

But let’s not just talk about what science can do. Let’s think about what it means. The WSJ describes microarrays as allowing us “to search for genetic roots of some of humanity’s most common traits.” Indeed, many conditions, such as diabetes, are believed to involve not one but many genes. Research is underway for genetic underpinnings of obesity, autism, depression, Alzheimers, and many other conditions. Learning more about genes also tells us more about environmental and other factors. As a result, gene findings can help us develop better screening, preventive measures, and treatments.

Technorati Tags: DNA testing, genes, genetics, disease, diabetes, autism, depression, alzheimers, obesity, microarrays

The advent and increasing popularity of ancestry testing raises complicated issues about how we conceive of ethnicity, and what it means to claim it — Is ethnicity genetic? Is it cultural? Is it how you see yourself, or how the world sees you?

Today’s New York Times (“Seeking Ancestry in DNA Ties Uncovered by Tests”) discusses how people are using, and wrestling with, the increasing popularity of this testing. (Disclosure: our company, DNA Direct, does not do ancestry testing. We stick to tests with health/medical applications).

Like the expression of genes themselves, our understanding of “race” and “ethnicity” is dynamic: It will continue to evolve, it will be complex, it will be individual, and it will be influenced by many environmental, personal, and genetic forces.

Technorati Tags: ancestry, DNA testing, genes, genetics, ethnicity

Tina in Arizona asked us by email:

“What does the latest news on genetic testing for breast cancer mean for me and my daughter? Two years ago, I had the test for breast cancer — the results were negative. Does this new research mean that my test was not accurate? Is there a chance I could still have a mutation?” I am a breast cancer survivor (diagnosed at age 48), and there’s breast cancer in my dad’s family.”

The simple answer, Tina, is that this new information does not make your test any less accurate. Your test, called full sequence BRCA testing, looked for genetic changes in two tumor suppressor genes (called BRCA1 and BRCA2) that are currently known to be associated with hereditary breast and ovarian cancer.

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Welcome to our blog about genetics, health and medicine. Here you can find news and commentary on the latest genetic discoveries. You’ll also find nuts-and-bolts information about things like family risks, carrier screening, common genetic conditions and more.

Read the most recent posts

DNA Direct Talk is written by some of us at DNA Direct, a genetic testing and educational services company. We encourage you to post comments, and we’ll try to answer any questions you have about testing. Come join in the discussion!

Lisa, Elissa and Jason