May 16, 2012
@9:50 AM

Response to feedback on the Bloomberg story

Hello, I was one of the doctors interviewed for this story:

In the past 24 hours, I have been accused by members of the medical and research establishment of “self-promotion”, “hype”, being an “amateur” and numerous other things. Here is my response:

I am NOT self-promoting or doing “hype”, but rather trying to educate the public and alert people to the major ethical issues involved with the current sequencing of live humans in research settings without anything rigorously established for return of results. I am asking for analytic and clinical validity to be implemented in at least initial germline genome sequencing in live humans, so that correct results can be delivered back in a reliable way to research participants. The lack of proper clinical testing can lead to all sorts of problems, including this major problem discussed here:

I spent the past 16 years training in science, genetics, and clinical medicine so that I can work on these issues with families and the public at large. Educating the public about genetics is incredibly important and I am among the next generation trying to move forward with genetics in medicine.

Perhaps my own outlook was shaped by the past 8 years treating very ill psychiatry patients and families first at Columbia, then Bellevue, and finally in Utah, some of whom clearly had as-yet-defined genetic syndromes. We clearly need a new discipline for genomic medicine, to help identify patients at risk with highly penetrant CNVs or other mutations, so that we can monitor them carefully and perhaps reduce disease onset or at least severity. I have watched far too many patients do poorly after being undiagnosed and untreated for 10-15 years. How many patients with 22q11.2 deletion are out there now suffering with schizophrenia, for example? But, how many people in America with 22q11.2 deletions are completely asymptomatic their whole lives, i.e. zero penetrance of any disease from this deletion? We will never identify these people, not unless we collaborate and implement WGS for the masses with high analytic and clinical validity, and this is within the reach of industry at least, in collaboration with academics. I’ll be expanding on these topics at the Clinical Genome conference in San Francisco next month.

Also, see more on all of this here: