Monday, November 17, 2008

Francis Agrees with the Kid!

First, Hat Tip to Mr Weber, a longtime reader of my blog. Thanks to him for bringing this to my attention.

Well, I also said that the slack could be filled by Physician's Assistants and Nurse Practitioners. Which probably only fired up the NSGC more.....

It turns out someone......Francis Collins agrees with me.

Collins and the other speakers noted the emphasis in PA training on patient education and taking family histories and PAs' ability to spend the time with patients needed to obtain a detailed family history.

"The current system puts physicians in a difficult position," Collins said. "There's too much emphasis on procedures, and not enough on personal interaction. Therefore, the heavy lifting will have to be done by PAs and nurse practitioners." He described the PA profession as a possible "fulcrum" for the integration of genomics into health care.

So Mike, if you read this....give me a call. Sorry I missed yours......

The Sherpa Says: We need PAs and NPs to do the heavy lifting in obtaining family histories and helping to carry out genomic medicine. Why? Most CGCs wouldn't get that a poor reaction to wellbutrin could be due to a cytochrome p450 2D6 polymorpism. Or that a Reynold's Risk score is altered when identifying family members with heart attacks.....They could learn, but it would likely take another 2 years of training an already overburdened field......


Anonymous said...

We do indeed need PA's and NP's to work with the field of human genetics. There are to few CGC's around to deal with all of the patients that are seen in a hospital on a daily weekday basis.

The current of GC's is fine, but it needs to be extended so they can deal more with what PA's and NP's can. Two more years of training is needed for the GC profession.

Anonymous said...

Sorry for the typos and miss words on that last post. It should have read as:

"We do indeed neeed PA's and NP's to work with the field of human genetics. There are to few CGC's around to deal with all of the patients that are seen in a hospital setting on a weekly basis.

The current training of GC's is fine, but it needs to be extended so GC's can work more with PA's and NP's. Two more years of training is needed for the GC profession.

Andrew said...

What I don't understand is why more health professionals don't do a quick Internet search for technical terms when there is a problem.

Kevin of Think Gene was asking about this, and a quick Google search for "wellbutrin" and with an extremely basic understanding that mutations cytochrome p450 family of enzymes is strongly implicated in clearance variance of a very many drugs between individuals, I learned in 3 minutes from wikipedia:

- cytochrome p450 2D6 => also CYP2D6, is an enzyme in the cytochrome p450 group
- wellbutrin => trademark for bupropion, an antidepressant
- CYP2D6 is a "strong inhibitor" of bupropion
- bupropion is known to lower the threshold of seizures at higher doses, so... mutations that diminish the function of CYP2D6 (most mutations make enzymes less effective, not more) will increase the activity of bupropion, requiring a lower dose. My guess is that a mutation slows clearance, leading to a buildup of the drug at "normal" dosage which could increase risk for seizures, delirium, and other side effects
- bupropion is most commonly prescribed for sexual dysfunction caused by other antidepressants (note to self: hmmmm)
- AND the relevance is probably due to the recently release of the AmpliChip
- OH! and there are a bunch of other drug-drug interactions involving CYP2D6, and frankly, I don't know how anybody ever expects to remember the astronomical permutations of these side effects without the aid of a computer

Obviously, Wikipedia is not a primary source, but it is good for producing leads for research, and it usually links to direct sources. It took me about 10 times as long to type all this out as it did for me to learn it.

Um, I forgot my point. Probably something about how medicine is an information science and how good sources of information will revolutionize medicine or something like my common shtick or whatever

Anonymous said...


I understand your point. Some of it just has to do with people being lazy (not wanting to take the time to look something up) and some healthcare professionals are just to busy and don't have a computer next to them to look something up.

In the end, it really comes down to personal drive, time, desire to give the best patient care possible, etc.

Anonymous said...

From my recent experience as a parent with a child who experienced what I believe is a CYP2D6 drug toxicity, I can say that out in the day-to-day world most doctors, educators, and therapists do not know this exists, much less to ask revelent questions concerning metabolism. In my daughter's case, I had to log what my daughter was taking, question the impact of an OTC allergy medicinne, and research information on the web. I brought this information to a series of professionals (good doctors, but not looking for this angle) who didn't disagree -- they simply would not comment.

I was shocked. While the percentage of poor metabolizers is small, it is not insignificant. The medical community has to understand the widespread impact this can have. My daughter's problems began when her pediatrician casually suggested she switch from Claritin to Zyrtec. Of course, the side effects were gradual. When they finally became severe enough, a second medication was prescribed ... a medication which is an "inhibitor". The reaction was swift but severe. She was quickly weaned from the small dose of the "inhibiting" medication. I was the one to insist she stop the zyrtec, and when she did, the symptoms disappeared.

Two weeks ago I wrote to the company which makes Zyrtec, now a OTC product despite an unofficial history of side effects, and pleaded with them to spend some of their marketing dollars informing the public and educating clinicians to be aware of the complications poor metabolizers could have with their medication -- especially children. If zyrtec can pay for a shiny website filled with flowers and a special "zyrtopia" section, I think they could splurge on assuring that their product (probably effective for many people) is used safely in the general population. These medications need to shoulder some of the responsibility for their products ... which in turn will prompt insurance companies to cover what can be lifesaving testing.