See these two links to download two new talks concerning efforts toward “clinical-grade” exomes and genomes, delivered in October 2012 at Bio-IT Europe in Vienna, Austria.
Oct 06, 2012
See here for the redacted slides (photographs removed) from the talk given by Dr. Lyon on Friday at the Consumer Genetics meeting in Boston.
Sep 22, 2012
I (Gholson Lyon) had the honor of meeting Ralph Greenspan at a meeting recently. In reading some of his papers, I stumbled across (in this paper) this awesome quote concerning the work of Davenport at Cold Spring Harbor Laboratory:
“These studies suffered, however, from Davenport’s propensity to see Mendelian inheritance in every trait he looked at, from Huntingtons’s Disease to feeble-mindedness, which he claimed was recessive, but we now suspect to be environmentally induced by prolonged contact with academic researchers”.
Very hilarious, and very true.
Sep 13, 2012
I (Gholson Lyon) am uploading some new slides from a talk that I presented today, minus some personal photographs of some families that are part of research studies and older slides already found in prior talks. The photographs of people are from published material from others, and I have tried my best to credit the sources as best as I can. Please forgive any omissions. I hope very much people will read over my talk and provide any feedback. There are many new slides here NOT in prior talks.
Aug 16, 2012
Dr. Lyon modified substantially a talk related to the development of next generation sequencing in the clinic. See here for the talk that Dr. Lyon gave yesterday in Providence:
Aug 03, 2012
See here for something that Dr. Lyon published recently in regards to human genetics and sequencing.
Jul 31, 2012
I wrote the below in response to the 23andMe announcement:
I am very concerned that the growth of substantial FDA bureaucracy will continue to choke off the movement toward individualized medicine, the quantified self, and the networking of science as applied to human health and medicine. It seems like there is a “race to the bottom” with any governmental institution or large bureaucracy, in terms of needing to “protect you from yourselves”. While I do agree that there needs to be a standard in place for genetic testing, I have felt that it is sufficient to require that all such testing be performed in CLIA-certified environments, at least in America. Obviously, we have to walk a fine line between outright quackery and useful genetic information provided to consumers, and I am afraid that 23andMe did not do themselves any favors in their earlier days with some of their common SNP “test results”. However, with the advent of CLIA-certified exome sequencing, many people can discover very useful genetic information about themselves, including rare variants that may increase risk of certain diseases substantially. I do not know what exactly 23andMe submitted to the FDA for clearance, so it is very hard to comment further on this, other than to ask whether we are going to ask the FDA for permission on each and every genetic variant of possible medical relevance that people want to somehow test for with exome sequencing? That seems completely unworkable.
See another worthwhile opinion here from Razib Khan: http://blogs.discovermagazine.com/gnxp/2012/07/23andme-and-the-fda-clearance/
Jul 26, 2012
See link to paper here:
This is open-access (free for download) for the first month, then behind a paywall till the end of 12 months. This was the compromise that we were able to achieve with the editors at Genome Medicine. So, please download the paper during first 30 days, if you want to avoid a paywall later on.
Jul 18, 2012
You can download and view my talk here:
Jun 23, 2012
This talk was delivered at the Clinical Genome Conference earlier this month. Enjoy.