First, I want to thank reporter Devon Lash at the Stamford Advocate, who wrote a very nice piece about the CT State Dept. of Health asking seniors to speak up about diseases in their family. So many people didn't speak of these things just a few decades ago, but they need to. The article misstates what I said, which is nearly over 40% of women were reclassified when using the Reynolds Risk score in comparison with the Framingham.
Tuesday, May 26, 2009
Long Weekend, Lots to cover.
But I think you get the idea. Public Health Departments are now pushing Family Histories......NOT SNP SCANS.....
Often I am presented with a patient who says "They never spoke about it". I tell that patient to go to their family member and "Make them speak about it" What they tell you may just save YOUR life.
I am glad we are not the only ones doing this.
But in true push science to the public in an attempt to market it fashion, family history has fallen behind the big money push of SNP scans......despite evidence that family history outperforms SNP scans all the time.
A meta analysis was performed, yes I have complained about METa's ability to bring actually results and not just play statistics.....but this set of studies are in fairly homogenous populations.....still, I have some caution when reviewing these.....
It is true, Family History does have shortcomings and it is in the realm of often false assumptions that we make these mistakes.......
I see this all the time. Doctors have sent patients to us who say that they are at risk of Colon Cancer because of a BRCA family history.....Untrue....these are not really linked.....which is why I applaud the efforts in Canada to start linking patterns and noticing risks.....But even with a great cancer registry it turns out what may hold for BRCA may hold for most other hormonal cancers and colorectal cancer. A recent registry review which was analzed using log regression found little relation between, prostate, endometrial or ovarian and Colorectal Cancer. In addition, they saw a small (as in on the order of SNP scan) relation of Breast Cancer and Colorectal Cancer....
Why are there shortcomings here? Well for one, we know that Lynch syndrome has Colon, Ovarian and Endometrial..........This is a valid connection.......
For second, this is as is most family history data, retrospective. Which is not to say it isn't better than a GWAS scan which was only replicated once.....but it is not the most solid....
But while there are shortcomings, Family history still kicks SNP scans A$$ in when it comes to data and clinical studies.....
This is why every patient which walks through the doors of our offices gets a 3 generation family history......
Oh and the best part, it's essentially free to the consumer/patient......But alas, no big money has decided to put on events for Consumer Family History Shows.......
The Sherpa Says: All the money in the world can't create data that requires observation over time......even Pharma fails at doing this.....So why would any venture cap think that they could revolutionize medicine without putting family histories in their risk engines??? BTW, 800 USD is overpriced, just like the SNP scans........
Posted by Steve Murphy MD at 5:41 AM
Labels: 23 and me, deCODEme, DNA direct, Helix Health of Connecticut, navigenics
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