Talk

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…)

I got a kick out of the Daily Galaxy blog’s list of Hot Jobs in 2012, especially since the very specialized, previously nerdy role of genetic counseling is predicted to be … hot!

7) Genetic Counseling

Doctors will be able to test for dozens of genetic markers and predict when a person will likely experience a genetically based condition. With more tests and treatments available, genetic counselors will be needed to help individuals and families make decisions about genetic technologies as it applies to science and personal beliefs. Today, about 2,000 counselors are recognized by the American Board of Genetic Counseling.

Now, you might say it’s pretty obvious with the lightening speed advances in genomics that we need people who can explain what all those advances really mean. But most in the genomics industry and the media are focused on what can we discover. Watchdog agencies and ethics groups focus on the larger, policy issues. Who’s taking care of the individuals — families, patients, Dick and Jane and Spot — compassionately helping them understand the medicine and making their personal, own best choices according to their circumstances and beliefs? Genetic counselors. They’re the ones with the training and the time. And with only ~2000 in the practice today, you tell there’s a big bottleneck ahead.

All you GCs out there, get ready for your upcoming popularity and fame!

Personally, though, I wager that additional medical professionals who are trained in counseling and educational roles will also step up to the plate. Nurses and nurse practitioners are likely to develop a new clinical specialty, just as they have for areas such as oncology, ob/gyn and pediatrics.

Hat tip: The Daily Scan at Genome Web

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…)

Although not directly related to genetics, it’s not surprising that we’ve been talking around the water cooler about the unauthorized preview of Google Health.

Says David Hamilton over at VentureBeat, “Overall, it seems a solid but unremarkable effort, one that probably wouldn’t even merit much attention were it not from Google. Of course, that makes all the difference, since a groundswell of patients who want their doctors to use Google medical records might actually encourage more doctors to adopt electronic systems.” Exactly. Never underestimate the power of the patient in an increasingly consumer-driven health care system.

See NYTimes coverage, an unenthusiastic review at In Vivo Blog, and colorful discussion at the Wall Street Journal’s Health Blog.

Technorati Tags: google health, microsoft, personal health record, preview, review, medical record

Hunter Syndrome is one of several hereditary metabolic conditions known collectively as lysosomal storage disorders. These are genetically distinct diseases that result from a deficiency of a particular enzyme.

• Hunter syndrome, also known as mucopolysaccharidosis II or MPS II, is caused by an inherited deficiency in the enzyme iduronate-2-sulfatase (or I2S). Lack of this enzyme affects the body’s ability to break down and recycle cellular waste.
• Hunter syndrome affects approximately 1 in every 155,000 people. (more…)

Charcot-Marie-Tooth disorder is one of the most common inherited neurological disorders – it affects 1 in 2,500 people in the U.S. This label actually refers to a group of related conditions that affect the body’s peripheral nerves, resulting in pain and muscle weakness in the feet and legs.Until now, the genetic causes for 70% of Charcot-Marie-Tooth cases have been known and genetic testing can help guide treatment for affected individuals. It can also help family members determine their risk.

Now another 5% or so of these families will be able to identify their genetic cause of Charcot-Marie-Tooth. Geneticist Miriam Meisler and her team at the University of Michigan have identified a mutation in a gene (FIG4) in both mice with similar symptoms and people who have Charcot-Marie-Tooth disorder. We can expect this discovery will lead to new strategies for treating the symptoms of this form of the disorder.

(Photo: Mouse with FIG4 mutation, thanks to Miriam Meisler)

Read more on this discovery:

• UMHS press release
• Nature abstract