I am a medical geneticist and physician-scientist with a research focus in translational genomics and health outcomes. I have over 20 years of experience directing large multi-disciplinary and multi-institutional projects that have generated empirical data around the medical, behavioral and economic impact of utilizing genomics in the practice of medicine and have led the field in designing and implementing randomized trials in genomic medicine. For example, as PI of the REVEAL Study, continuously funded since 1999, I have led 5 randomized trials that will have enrolled a total of over 1,100 individuals to explore emerging themes in translational genomics of susceptibility genes. As PI of the MedSeq Project within the Clinical Sequencing Exploratory Research Consortium, I directed one of the first randomized trials to examine the impact of whole genome sequencing in the adult practice of medicine. As mPI of the BabySeq Project, within the Newborn Sequencing in Genomic Medicine and Public Health Consortium, I am co-directing a randomized trial to examine the risks and benefits of newborn genome sequencing, which the current proposal will expand upon. As PI of the MilSeq Project, I am leading a pilot project of genome sequencing in active duty members of the US military. I am also co-PI of the Harvard Partners (BWH) site for the Electronic Medical Records and Genomics Network, and a co-investigator within the Partners recruitment site for Precision Medicine Initiative (AllofUs).
I have participated in a number of working groups around policy issues in genomic medicine. In particular, I was co-chair and lead author of the process and publication of the 2013 ACMG recommendations on return of incidental variants in clinical sequencing. I see patients in an adult genetics clinic and participate in gene discovery research as a member of the Brigham Genomic Medicine Gene Discovery Program.
BWH Preventive Genomics Clinic:www.brighamandwomens.org/medicine/genetics/genetics-and-genomic-medicine/preventive-genomics-clinic