Topol on Alzheimer's, Superbabies, and Crowd-Sourcing Data


July 31, 2013

Dear Medscape Readers,

Welcome to the first installment of a monthly letter to you in which I will highlight some of the exciting things that we are doing at Medscape, as well as some of the most important medical research. As a biomedical news junkie, I try to keep track of the major advances in our space that have significant implications for how we'll render patient care in the future. So, each month I'll be sending a note that highlights a few items of particular interest, especially those that have escaped broad coverage by the media.

First up is a unique report on Alzheimer disease that appeared in Nature.[1] In this study, researchers from Columbia University used publicly available data from a variety of sources to refine our understanding of late-onset Alzheimer disease (LOAD) related to the apoε4 variant -- a risk allele that more than 10% of the population carries. This led to discovery of at least 2 other gene variants that interact with apoε4 and helps to explain why some people with the ε4 allele are at particular risk for LOAD, while others seem to be protected. Most important, this work would not have been possible without open, public access to large databases -- a phenomenon that I have been calling MOOM (massive open online medicine). We have a huge and remarkable digital infrastructure that is growing exponentially, and the more we pool and crowd-source these resources, the faster we'll learn -- not just about research, as exemplified in this study, but also about providing care. Imagine, for example, a planetary database of every patient with a diagnosis of cancer, containing demographics, genomic data, treatment, and outcomes. Wouldn't that make a difference for the patient of the future who will have that wealth of information to tap into?

Second, I was surprised by a couple of reports on new applications of whole genome sequencing. One of the reports, in WIRED magazine (which I strongly recommend to all of you techies who are into digital medicine), was about the Beijing Genomic Institute's project of sequencing 2000 individuals with very high IQs to identify the genomic underpinnings, ultimately with the hopes of breeding superbabies.[2] Although it seems unlikely that this project will be successful in finding important genomic determinants, it is especially worrisome that such a long-range goal is being pursued. Going further upstream, prior to conception, was a new, large grant to Kaiser Permanente for whole genome sequencing of couples to inform them of reproductive risks.[3] Will this eventually (a long way off) lead to a commonplace use of sequencing for couples planning to conceive? And, while on this general topic, there is a very nice, short, balanced NEJM review on prenatal genomic testing via a blood sample, which is quickly replacing amniocentesis.[4]

Third, I recently had the unique opportunity to attend and present at part of the American Hospital Association Leadership Forum, an organization that is unfortunately under-represented by physicians. There, I spoke about the role of a hospital in 10 years.[5] When I suggested that we wouldn't need regular hospital rooms by that point in time -- just intensive care units and operating and procedure rooms -- I was worried that I might be quickly given the hook. But the group was remarkably receptive, which gave me hope that we can control-alt-delete our current model of care using the emerging technologies of innovative sensors and remote monitoring. Clearly this new model needs to be validated, but the promise of avoiding the expense, risk, and inconvenience of a hospital room is alluring.

I‘ve kept this short because I know you're all busy. But hopefully I can call out some of the things you may find interesting as part of our quest at Medscape to provide the absolute best, most comprehensive coverage of anything that moves in the medical space. Even shorter are the tweets that I put out on a daily basis (usually just a few) that try to capture what may be notable to you. If you're interested in that, please follow me on Twitter @EricTopol and share what you think is worth the attention of your colleagues. Then, we'll all learn and get smarter!

Best regards,

Eric J. Topol, MD

Editor-in-Chief, Medscape


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