Ricki Lewis

Nov 29, 2011 10:04 AM EST

Regenerative medicine is becoming a reality...or 80 IS the new 40.

- Dennis Steindler

Oct 14, 2011 11:43 AM EDT

I think many of us in the field (of genetic counseling) have been waiting for the day of whole genome sequencing at a reasonable price. While it might not make sense for someone who is healthy and at population risk for cancer and other diseases, those that come for genetic counseling often have significant histories of early onset and often multisystem disease. It is no small feat to organize single gene genetic testing, given insurance constraints, and ever growing costs for co-payments and high deductibles. Any patient who tests negative or normal on the first run of testing then enters the world of follow-up genetic testing which is a confusing world of testing for genes of lower penetrance, variable onset, and uncertain significance. Not to mention the fact that such testing is often not readily covered by insurance. It makes more sense to opt for a test that is much more likely to offer an answer to the broad question of genetic risk which is what exome sequencing. Exome sequencing on a population level might be like looking for a needle in the haystack, but for the patients that I see for genetic counseling, if would be like looking for your cellphone in the haystack. Much easier to find when you know what you are looking for. I do think most patients would want to take advantage of whatever testing their insurances would cover first, but whole exome sequencing should be a consideration immediately afterwards, if initial testing provides no information.

- S. Bonnie Liebers

Oct 14, 2011 12:53 PM EDT

Thanks, Bonnie. I'm at the International Congress of Human Genetics right now, and exome sequencing is just around the corner. Much discussion has focused on the problem of what to do about incidentalomas -- when to report increased risks, and how to determine what degree of risk is sufficient to inform the patient? One thing is certain -- there aren't enough genetic counselors to handle a population that accepts whole exome sequencing.

- Ricki Lewis

Jul 05, 2011 5:42 AM EDT

Thank you for pointing out how little doctors actually know about the drugs they prescribe. Our system is flawed. Providers learn about drugs from marketers who work for drug companies. These drug representatives sing the praises of their drugs & ignore concerns. In 1953 research showed DES did not prevent miscarriage but drug reps pushed it hard anyway, so DES was heavily prescribed until 1971 - to the harm of the DES-exposed mothers, daughters, sons and now possibly grandchildren. Patients don't realize their doctors are going on the word of drug makers when they assure the safety of the prescriptions they write!

- Fran Howell

Jul 05, 2011 5:49 AM EDT

Thanks, Fran. I'd often accompany my mother-in-law to physician appointments, where I would be treated like a mental defective if I dared ask a question. I couldn't believe how vehemently this man was pushing the drug -- and my mother-in-law is from a generation when physicians were never questioned.

- Ricki Lewis

Jul 05, 2011 4:39 PM EDT

Hi Ricki,
Found this blog post from a twitter re-tweet. Nice job on this post. I will probably do a quick video blog on this topic in the next day or two myself.
The problem with this new cardiovascular scare is two-fold. For one, the numbers a pretty small. I think it is too early to react too much to this particular concern. Secondly, the cardiovascular risk of smoking itself is well established and more significant than the numbers we are seeing from this Chantix data.
While I think there is due cause to raise a big caution flag with Chantix given the numerous postmarketing health concerns, I am surprised at the ardent conclusion by the study author that this drug should be pulled from the market. Perhaps this is a result of a growingly cautious environment resulting from postmarketing disasters with other medications.
We know, at least as far as the literature has shown, that Chantix is the single most effective intervention in smoking cessation. Given the multiple severe consequences of continued smoking, I think it would be prudent to await a clearer picture before writing Chantix off as a smoking cessation option. Perhaps it will no longer be an appropriate first line option for many patients, but the medication choices are quite limited.

And yes, everyone should receive counseling! This was a big part of the Chantix trials, and could very well be the reason the quit rates were greater than other medical interventions. But it is pretty clear that addition of medicine (nicotine replacement, buproprion, Chantix, or a combo of the first two) results in a greater chance of smoking cessation.

Aaron Emmel, PharmD, BCNSP

- www.smartermeds.com

Jul 05, 2011 6:14 PM EDT

Hi, Aaron, thanks for your comment! I agree that it is too soon to pull Chantix from the market -- the mechanism makes sense and it works. I call my blog Genetic Linkage because I like to link things, and I was intrigued by the Chantix report coming on the heels of the release of the cigarette packaging photos, and just before the Lancet texting study.

I begged my mother-in-law to call for the Chantix support. It was a little like prescribing an anti-depressant without any counseling. My beef was more with the doctor prescribing it than with the drug.

I really appreciate your response (I'm rather new to blogging and tweeting) and will continue to watch developments in this area. The addictive power of nicotine is truly frightening.

- Ricki Lewis