28
Oct
11

Optimism and progress in personal genomics

I’ve been spending most of my time these days thinking about our personal genomes and their implications to our daily lives. I’ve had time to reflect on this during past few events I’ve attended (the Cold Spring Harbor Personal Genomes Conference, the Open Science Summit, and a BioCurious Advanced Personal Genomics I helped teach) and while knee-deep in writing a chapter on ethics for “Exploring Personal Genomics” (see below).

The Personal Genomes conference at CSHL (which, incidentally, is joining the Pharmacogenomics conference next year to become “Personal Genomes & Medical Genomics”) featured exciting methods and state-of-the-art analyses for personal genomics, but also clinical implications, including stories of the use of genome sequencing in aiding clinical decision making. Many there argued that the time for clinical sequencing is now, but the issue was raised of who would interpret genomic data. There are many pathologists interpreting laboratory data for diagnosis, but would they want to (and could they be trained to) interpret genomes? Later, at the Open Science Summit, the current practical implications were discussed, along with the ethics and current limitations (the “hopes and hypes”), but the feeling was still optimistic. Then, on Wednesday, at the Biocurious hacker space, the “Advanced Personal Genomics” workshop that I helped teach provided a glimpse into genome interpretation for early adopters. The response at this event was surprisingly positive: even after discussing the limitations of personal genomics at length, these individuals were still curious and enthusiastic about learning more about their genomes.

From our end, our paper describing the Interpretome system is online now, to be presented at the Pacific Symposium for Biocomputing in January. The paper serves as a rigorous description of the platform, including examples of personal genomics analyses and the modular nature of the system. Furthermore, Joel Dudley and I have been working on a book entitled “Exploring Personal Genomics,” a guide to understanding and interpreting a personal genome, to be published in 2012 by Oxford University Press (anyone who would like to be notified when the book is released is invited to enter their email address here).

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