Talk

Everyone’s chatting about Nicholas Wade’s latest article on the $1000 genome. Here’s a round-up of interesting comments on the when, how, why and what we can do it:

• Evolgen points out the important difference between “sequencing” a genome and “decoding” it.
• The Personal Genome highlights the issue of what we do once we’ve got our affordable, sequenced genome. Once we’ve got our code in hand, who’s going to help us understand and use it, and how?
• Searching Our Genes talks about how the forces that drive technology and medicine are interacting in pursuit of the genome.
• The folks over at Gene Expression are asking, “If you could have your genome ’sequenced’ (to a good approximation) for $1000, would you do it? What would you want to know from the data?” State your opinion and see what others have to say.
• Genetics and Health touches on what we do and don’t know at this point.
• The Minnesota Gene Pool asks, “What impact will access to the complete genome sequence really have for most people’s medical care?” Genomics gal offers thoughtful discussion.

From my perspective, the value lies in knowing about our genes in context. And that context keeps growing every day. (Scientists Say They’ve Found a Code Beyond Genetics in DNA)

The original article is in the NY Times but free access is about to run out, so get it while you can: The Quest for the $1000 Genome

Technorati Tags: human genome, 1000 genome, genome sequencing

In the midst of all this talk about genes, drugs and genetic testing comes a brand new blog called — you guessed it! — Genes & Drugs. I’m pleased to announce the launch of this new blog by Dr. Alan Eshleman. While we muse over what the latest news on pharmacogenetics might mean for patients, Dr. E will be talking about the ins and outs of PGx for physicians and other healthcare professionals.

Dr. E has a long history of contributing to online and offline communities. For many years he moderated health & medical communities at The Well. More recently, he wrote “Doctor E’s Diary” for the San Francisco Chronicle’s online site.

If you are as excited about the promise of pharmacogenetics as I am, you’ll want to check in regularly with Dr. E.

Technorati Tags: genes, drugs, drug metabolism, genetic testing, Alan Eshleman, PGx

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

Have you heard of celiac disease? Most people haven’t, but knowing about it could change the lives of many who suffer from undiagnosed intestinal distress. That’s why yesterday the NIH launched a Celiac Awareness Campaign.

Celiac disease is an autoimmune response to gluten, a protein found in wheat, rye, and barley. Symptoms vary, and they range from gas, diarrhea and abdominal pain, to delayed growth, certain skin rashes, infertility and osteoporosis. Some people develop symptoms as children, others after an event such as an infection, a physical injury, pregnancy, severe stress or surgery.

Celiac disease is commonly under- or misdiagnosed, because its symptoms are similar to those of other diseases. Celiac disease may be confused with irritable bowel syndrome (IBS), iron-deficiency anemia, ulcers, Crohn’s disease, diverticulitis, intestinal infections, and chronic fatigue syndrome (CFS).

(more…)

This morning I wanted to write about an article in Forbes by Peter Huber on diagnostic technology, FDA regulation and a patient’s right to know. But my colleague Jason beat me to it! So I suggest everyone go read his post: Private Little Revolutions.

Technorati Tags: diagnostic technology, privacy

Genes and Drug Abuse: Most studies have been in Western nations where there is larger access to and use of illicit drugs. Now there’s a study from Norway supporting genetic risk factors.

Genome, Identity and Images: Scientist and photographer Ariel Ruiz i Atalba’s new show, “Evolving Identities in the Genetic Age.”

The Microbiome: We’ve got genomics, epigenomics, proteomics and now…microbiomics! The microbiome is another good argument for why genetics isn’t destiny.

Men’s Biological Time Clock: Research shows that with age, the genetic quality of a man’s sperm decreases, i.e., men who wait until they’re older to have children may have more difficulty conceiving and they may also increase the risk of having children with genetic problems. (Of course, they still have longer than we women do….)

Technorati Tags: genes, drug abuse, microbiome, sperm, fertility, infertility, risk factors, genome, photography, Ariel Ruiz i Atalba

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…)

I’m a bit late in announcing this but the latest issue of Mendel’s Garden, the new genetics blog round-up, is up at Genetics and Health. A few of the selections about rare genetic conditions caught my attention.

Dr. Paul discusses an intriguing collaboration between dog breeders and human researchers. Batten Disease, is a rare genetic disorder that appears in both humans and Tibetan Terriers. The breed club has a DNA database for the dogs, and you can guess the rest — but you really should read Dr. Paul’s commentary about what a collaboration like this can mean for a rare disease.

Filipina Soul writes about a rare, recessive genetic disorder, maple syrup urine disease, and recent research that suggests high carrier rates (up to 1 in 100) among Filipinos. According to Filipina Soul, the researchers have also identified a unique founder mutation that causes the disease. Research such as this is exciting — it can make pre-conception carrier testing possible, not to mention how awareness of ethnic risk increases the likelihood of early postnatal diagnosis.

Over at Ideas for Women, Trisha has thoughtful commentary on a study I’ve been meaning to write about. Recently, the Journal of Clinical Oncology published a preliminary study suggesting that women with BRCA1 or BRCA2 mutations who are exposed to X-rays have a greater risk for breast cancer. (Trisha also reported on the discovery of a BARD1 variant that in combination with a BRCA1 mutation significantly increases cancer risk. This variant has been found only in European families to date.) This has nothing to do with rare genetic conditions, per se, but I share her perspectives about this research, how the media covers news like this, and how we as individuals make choices based on this.

Technorati Tags: mendel’s garden, genetic disorders, batten disease, tibetan terriers, maple syrup urine disease, msud, carrier testing, brca1, brca2, bard1, breast cancer, x-rays