Talk

Congratulations to Amy Harmon who just received a Pulitzer Prize for her series, The DNA Age. Her series, with articles and videos, “explores the benefits and burdens of genetic information as it filters out of scientific laboratories into everyday life.” It’s fantastic reading for anyone interested in what DNA means to you and me, today, and most likely tomorrow.

I’ve posted on many articles from The DNA Age here at DNA Direct Talk. Here’s a sampling:

• Insurance Fears and DNA Tests
  
• A personal story of Huntington disease
• Ancestry, race and DNA
  

Yet again, I’m frustrated by people confusing web access to genetic services with “direct-to-consumer” testing. Today in Science, Katsanis et al. lump DNA Direct’s gold standard services with what journalists at Newsweek are calling “snake oil.”

Contrary to the article published in Science that is being quoted in other news sources, DNA Direct is a healthcare provider just like any bricks-and-mortar genetics center. We provide medical genetic services according to evidence-based guidelines, under the oversight of a Medical Director who is an M.D. geneticist, and with a focus on proper interpretation of test results.

As a clinical provider committed to helping consumers understand genetic test results in context, it is inaccurate to describe our company as “bypassing doctors, who could help consumers interpret and use the findings.” In fact, we routinely work with physician practices to help both the referring physician and their patient access genetic testing and appropriately interpret the results.

You can read DNA Direct’s official reply to Science here, along with more info on our standards and how we meet professional guidelines.

It is my hope that this article by Katsanis et al. will fuel a debate, regardless of misinformation, prejudice or fear-mongering, that will help this industry rapidly mature. Debate can speed action and provide innovative solutions. As an insider commented, “We NEED articles like this—even if the perspective is one we do not share—because the market needs the acceleration and heat of debate.”

For more statistics about genetic testing for drug metabolism, which was the target of this article in Science, see Eye on DNA’s post and the Personalized Medicine Blog’s response.

Update 4/7: The Genetic Genealogist has a good round-up of news coverage and blog posts on this article.  He says, “…my biggest complaint with many of these articles (especially in the popular media) is that they tend to lump together every test that examines DNA. There are different types of genetic testing with different levels of quality control, interpretation, etc. The results, scientific background, and effects of tests offered by large-scale genome scanning companies, clinical entities, direct-to-consumer companies, and pharmacogenetic companies are not the same. When dealing with a readership that does not have a background in genetics (which is probably 99% of the readership), the media should take extra care to note these differences.”

With the recent FDA’s activity in personalized medicine, I asked DNA Direct’s director of pharmacogenetics, Dr. Huijun Z. Ring, if she’d give us a guest post.

Huijun writes:

FDA warns breast-feeding moms of genetic risk for using codeine products
Gene test can help to prevent life-threatening side effects in nursing babies

When I was home with my first baby, my training in science and medicine went out the window, and I found myself to be as much of a novice as every other new mother. I wanted to make sure that everything was perfect. Mostly, however, our family went forward by trial and error, learning as we went along how to care for our new member. Gratifyingly, a recent advance in my field of pharmocogenetics will help remove one uncertainty for mothers.

Codeine is a frequently used medication for mothers after child birth and for infants in their first year life. On Aug 17, the FDA issued a Public Health Advisory warning that a rare, but sometimes life-threatening, side effect of codeine in nursing babies could be attributed to a mother’s genetic makeup. (more…)

MSNBC provides compelling statistics about how genetic testing for warfarin (Coumadin) dosage can make a difference:

FDA economists estimate the genetic testing could prevent 85,000 “serious bleeding events” and 17,000 strokes a year, according to a November 2006 study posted to the Web site of the American Enterprise Institute. The savings to the health care system could be $1.1 billion a year, though some people question that. The genetic tests can cost $125 to $500. About 2 million people start taking the drug each year.

Warfarin sends more than 43,000 people to the emergency room each year, the FDA economists said. That total is more than for any other drug except insulin, which diabetics use.

The Washington Post has a suprisingly brief article, pointing out that

Studies have shown that the risk of a serious bleeding episode — into the brain or intestine, for instance — is highest soon after treatment has begun.

Technorati Tags: warfarin, coumadin, genes, genetic test, fda, label, risk, blood thinner, cost

Yesterday the FDA announced a new label for the blood thinner, Coumadin (generic: warfarin). The new label explains that people’s genetic makeup may influence how they respond to the drug, and that a $300-500 genetic test can help physicians tailor the drug dose to increase effectiveness and reduce the serious risk of bleeding.

The FDA says:

Warfarin is a difficult drug to use because the optimal dose varies and depends on many risk factors including a patient’s diet, age, and the use of other medications.

Patients who take a dose larger than they can tolerate are at risk of life-threatening bleeding. Those who receive too low a dose are at risk of equally dangerous blood clots. Dosing is particularly important at the beginning of therapy, when problems in adjusting the dose can lead to complications such as bleeding. …

A person’s genes “encode” enzymes and differences in the sequence of a gene can cause differences in enzyme activity or sensitivity. That is why different people process the same drug differently.

Good news, right? Another example of personalized medicine and how it can revolutionize patient care. Unfortunately the wheels of the machine grind slowly, and defensively. So it will be interesting to see how quickly this testing becomes routine: Will it become routine in top medical centers first, as new technology often is? Or, will Medicare bite at the potential for significant emergency room savings by making the gene test mandatory before prescribing warfarin, a drug so common in their population. (more…)

Tumor typing - or testing the genetic signature of a cancer - is currently helping doctors distinguish between more aggressive and less agressive cancers. As a result, they can recommend treatment that will be most effective for individual patients. Now, researchers have developed a similar test for lung cancer.

The Lung Metagene Predictor (described in this week’s New England Journal of Medicine) scans non-small cell lung cancer cells’ genetic material for patterns that occur in cancers that are likely to reappear. It is 90 percent accurate, its developers said.

If a patient’s tumor shows such patterns, doctors can prescribe more aggressive treatments that are more likely to prevent a recurrence of cancer.

See Scientific American online for details

Lung cancer is the most common form of cancer, and it’s the number one cancer killer in the States. It also has one of the most easily preventable risk factors: smoking. (More statistics)

I had a fascinating discussion yesterday with geneticist Huijun Ring of UCSF about her current research into the pharmacogenetics and -kinetics of smoking. In the not-so-distant future, there may be a “smoking cessation” genetic panel that will tell us about the way in a person metabolizes nicotine and the medications (such as Zyban) that will be most effective in helping her quit.

Technorati Tags: lung cancer, treatment, genes, genetic test, recurrence, smoking, nicotine, pharmacogenetics, pharmacokinetics, buproprion

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

Funny that we should be talking about DNA banking this week. Children’s Hospital of Philadelphia, the oldest pediatric hospital in the U.S., just announced the launch of a major program to collect and analyze DNA profiles of up to 100,000 patients. The goal is to build a database of children’s genetic profiles that researchers can study in relation to disease and disease risk, in hopes of developing new diagnostic tests and drug therapies.

Here in the Bay Area, Kaiser Permanente is developing plans for a database of 2 million adults’ DNA profiles. Other institutions in the US and Europe are developing databases focused on environmental polymorphisms, pharmacogenetics, and common adult diseases.

These new DNA banking projects highlight two major advances that, in tandem, have leapfrogged medical discovery: the scientific advances of the mapping of the human genome and the technological advances of microchip technology. By exponentially speeding up researchers’ ability to collect and analyze genetic data, these advances are ushering in a renaissance in medicine.

Not surprisingly, the CHOP and Kaiser projects are intensifying debate about privacy issues and medical ethics when it comes to genetic information. They also raise the issue of patents versus public interest, of which I expect we’ll be hearing a lot more debate.

What do you think — should genetic discoveries be patented by research institutions or private companies, or does this information inherently belong to the public?

Technorati Tags: DNA, DNA banking, children’s hospital of philadelphia, kaiser permanente, human genome, microarray, genetics, privacy, medical ethics