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Health See other Health Articles Title: Key Issues in Genome Sequencing of Healthy Individuals Welcome to another segment on genomic medicine. Today, I want to get into 3 different articles: 2 from the Wall Street ("Medical") Journal and the other from a new open access journal, PeerJ. All of them are related to the issues of genome sequencing. First, there was a debate about whether all healthy people should have their genomes sequenced. It was a debate between Atul Butte from Stanford and Robert Green from Harvard. In this debate, they made a number of really good points, and I have linked you to that article if you're interested. Basically, is it too early to get sequencing because we need millions of people to have whole genome sequencing who are healthy in order for that information to be truly informative. The price continues to drop. So even though the sequencing that is done today would still be valid if it's done accurately, the problem we have, of course, is a lack of enough people who are phenotyped with a particular condition to extract all the best information that is truly informative from whole genome sequencing. That's very different than in people who are sick with cancer or are going through a diagnostic odyssey or some different indication for whole genome sequencing. The second article in the Wall Street Journal was particularly concerning. It was also about healthy people being sequenced, but it was for intelligence and genius sequencing. BGI, the sequencing company in China, has obtained over 2000 individuals' DNA samples with very high IQ. They are going to be processing these data – most of the individuals are not even from China – to determine the genomic underpinnings of genius or very high intellect. This is concerning because it's unlikely that even 2000 individuals with high IQ will be particularly informative but also, of course, what this could do from a bioethical standpoint. I'll leave that to your imagination and thoughts as to where this could go – that is, trying to understand, even with limited power, the genomics of intelligence. The third article, which is also very interesting, comes from this new journal called PeerJ. I'm on the editorial board of that journal, and I think it's terrific to see open access, high-quality biomedical articles. This one comes from the company 23andMe. From a very large number of individuals – now over 200,000 and rapidly approaching 1 million – who have had genome scans, a large number of women had information about the BRCA gene and whether they had a significant mutation. From these women who volunteered to participate in this study, we learned that they had no serious psychological repercussions from knowledge of this highly actionable BRCA pathogenic mutation. This goes along with the previous study that we had done at Scripps led by my colleague Cinnamon Bloss in the New England Journal of Medicine, where, in thousands of individuals who had genome scans and had such data as ApoE4 status known to them for the first time, there were no significant negative psychological repercussions. We need to get over that part of it because it doesn't appear that sequencing data is going to have a durable, anxiety-laden, negative psychological effect. Although many things are unsettled, I tried to bring up 3 very topical issues about genomic sequencing data. I'll be really interested in your views and responses. Thanks very much. Post Comment Private Reply Ignore Thread Top • Page Up • Full Thread • Page Down • Bottom/Latest Begin Trace Mode for Comment # 1.
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Poll Results What are your thoughts about the GBI Chinese study using whole genome sequencing to find the DNA underpinnings of high intelligence/genius? This is great, much needed information 50% This is highly questionable from a methodologic perspective 0% This is highly questionable from an ethical perspective 0% This work will eventually make us smarter 0% Let's face it--This quest is inevitable with the use of whole genome sequencing 50%
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