Thursday, April 10, 2008

Back to the Basics.

I used to play football and had a coach who said "If you block and tackle better than anyone, then you will win championships"

I thought he was crazy. I thought you had to have super talent to win. But year after year it is clear in the NFL that teams who block and tackle You know this to be true in all sports.

So here at the Gene Sherpa, I am going back to the basics. I have been getting away from that and being a little preachy and in fact turning into a tabloid...While it does generate alot of blog hits.....Searches for Navigenics has sent my hit rate rocketing on FeedBurner....I think we need to report on how we are doing in our progression to Genomic Medicine.

So when I open this month's edition of
Internal Medicine News "The Leading Independant Newspaper for the Internist-Since 1968" it is nice to see several headlines involving genetics. But it is sad to see the front page reading "Help Wanted: Internists Needed"

Yes it is true, there is a lack of primary care providers and it is only getting worse. They are suffering from the same problem as the medical geneticist. Not enough pay for the value of services provide....

But there is some good news,
Primary Prevention works. We are already seeing the benefits of the HPV vaccine reducing the incidents of abnormal pap smears. HPV is a virus which causes cervical cancer. The first signs of an abnormal cervix are found on a Pap smear. In fact a reduction in cervical biposy of 22% is a very big sign we are headed in the right direction. Imagine that....Vaccines work.

In addition to all of the Genetic/Genomic Centered articles there is a subsection which I had mentioned in prior posts called "
Genetics in Your Practice". In this section the cover connective tissue disorders like Marfan Syndrome. This is especially timely after the lawsuit involving John Ritter's death. Aortic Aneurysms are genetic and familial. In fact we have seen patients with such conditions. Timely detection by ultrasound can avert sudden death. It is important to pick up the subtle clues by taking a family history. Often a referral to a Medical Geneticist may aid in the diagnosis and treatment.

This is not to say we always get it right. We were wrong about the intitial pathogenesis of Marfan Syndrome....but now we know "better".

Often, I have heard a comment about "Outliving" BRCA risk. We know that BRCA cancers are often earlier onset. We also say that their penetrance (ability to cause disease) is not 100%. Meaning, not all people with BRCA mutations get disease. But, we may be wrong.....In a new study of postmenopausal women with BRCA mutations, Dr Tice of UCSF reported on 114 BRCA 1 and 90 BRCA2 women who were unaffected by age 55. From he study he concluded and validated this fact. Women with BRCA1 or BRCA2 mutations who are unaffected at 55 years old. Mutation still confers a lifetime risk of breast and ovarian cancer of 50%....

Outlive risk??? Huh....Wrong again. Interestingly enough, most prophylactic mastectomies and oophorectomies are done in women younger than 55. Is this because most BRCA diagnosis are in younger women. Well when analyzing the raw percentages, it turns out uptake is twice as great in women younger than 55....Maybe it is because some geneticists and counselors are telling the patients about "Outliving" the risk. I guess they over credited those modifier genes.....Or maybe they didn't see a genetics professional at all. This can be a big problem with H/O specialists. Oh and Bradbury's study the average age of the 88 studied was 42 years old...hardly old enough. I still cannot find how may were over 55. In that study, older age was considered older than 40!

Ok, so here's the skinny on the Navigenics cocktail parties. Around 50 people were there last night. Alot were employees of the company. Opening night a head count of 90. Different from the reported count. Here's the bar, good looking bartenders, good discussions...... There, I have sated my tabloid fix

The Sherpa Says:

Those who climb the mountain on a weekly basis must not get too arrogant. The mountain can punish you as well.


Hsien Lei said...

Did you forget your camera? We want to see pictures of the cocktail party!

Anonymous said...

Yes, the basics are the key. Always keep working on the very basics. This includes reading literature about the cell cycle, DNA repair, gene transcription, etc. Your coach was right about tackling and blocking. I played football as well. Every pratice we focused on the basics.

Steve Murphy MD said...

Thank you so much. I agree. That is why I teach in the department of cell biology and anatomy at New York Medical College. Speaking with Cell biologists does help keep things sharp.