All G2P Projects

The Genomes2People Research Team manages a number of NIH-funded clinical trials in translational genomics and health outcomes, particularly in the areas of genetic risk assessment and disclosure, outcomes of direct-to-consumer personalized genetic testing, and the use of whole genome sequencing in clinical medicine. Click on each project to learn about its goals and progress as well as easily access relevant scientific publications and media stories.

The second phase of the BabySeq Project, funded again by the NIH, is examining the use of whole genome sequencing to screen a diverse cohort of newborns for genetic childhood disease risk. BabySeq follows the pediatricians’ incorporation of genetic information into newborns’ medical care. This time focusing on a cohort that is representative of the general population, BabySeq aims to collect the data needed to examine what the risks and benefits of newborn genome sequencing might be as we imagine implementing it into everyday care.

The PopSeq project is the first ever study to return genomic results (gRoR) in an all African American population cohort and a primarily European American cohort, including participants enrolled in the Jackson and Framingham Heart studies. The goal of this project is to study important gRoR outcomes and how they compare between participants in these two cohorts. Our gRoR design will serve as a resource for other population cohort studies and biobanks planning to return genomic results to their study participants. This study will also inform future efforts to scale the labor-intensive process of variant classification and will explore penetrance among populations unselected for family history.

The Personal Genome Sequencing Outcomes (PeopleSeq) Consortium, funded by the NIH, is one of the first large-scale longitudinal studies to examine the experiences, attitudes and outcomes of apparently healthy adults who have elected to obtain exome or genome sequencing. Data collected will provide valuable information on the potential benefits and costs of performing sequencing in healthy individuals, and key insights into the feasibility of using sequencing to create a more personalized and preventative model of medicine.

The MilSeq Project, funded by the Department of Defense through the Air Force Medical Support Agency, is a pilot study examining the process of incorporating whole exome sequencing (WES) into the United States Air Force (USAF) military health system. Active-duty service members of the USAF (Airmen) are enrolled into the study to undergo clinical WES.

Risk Evaluation and Education of Alzheimer’s Disease: the Study of Communicating Amyloid Neuroimaging (REVEAL-SCAN), funded by the NIH, is the first multi-site, randomized clinical trial to examine the impact of learning amyloid imaging results in cognitively normal individuals.

The MedSeq Project was the first NIH-funded randomized clinical trial to empirically study the use of whole genome sequencing in both a healthy population and a population with suspected genetic cardiac disease. The project was designed to explore the medical, behavioral and economic impacts of incorporating genome sequencing into everyday medicine and was led by a multi-disciplinary team of more than 40 scientists.

The Impact of Personal Genomics (PGen) Study, funded by the NIH, was a survey of consumers from two U.S. companies providing direct-to-consumer genetic testing, using independent third-party data collection and analysis to provide data on who was ordering these tests and why, and potential benefits and risks.

The Risk Evaluation and Education for Alzheimer’s Disease (REVEAL) Study, funded by the NIH, was a series of multi-site randomized controlled clinical trials that provided empirical data to address ethical, social and translational issues in genetic susceptibility testing for common diseases.

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