Wall and Tonellato Invited to Give Lectures at Incob Tokyo
Peter Tonellato and I were invited to speak at an upcoming international conference on computational biology, to be held in Tokyo. I will be giving a keynote lecture on Personalized medicine and the future of individualized health care. Read more here.
Abstract: With the emergence of direct-to-consumer personalized genomics and the $1000 genome on the imminent horizon, the number of individuals undergoing genetic testing is accelerating. Concomitant with this rise is an increasing awareness that our methodologies and our current clinical knowledgebases may be inadequate to accurately measure risk of disease. Mutations that are marked in authoritative genetic databases as highly penetrant in causing disease congenitally or in early childhood are being discovered in asymptomatic, healthy adults. The number of these false positives findings is projected to rise dramatically because many of the current annotations for known mutations have not been developed for the asymptomatic, well population. In this talk, I will discuss our efforts to determine the frequency of false positives in present day genetic testing and their likely impact on the practice of personalized medicine. I will also discuss our work on clinical-grade annotation of human genetic variation, and related efforts in educating future doctors on the potential of genomics on individualized healthcare.