Genomes to People projects include The BabySeq Project, The MilSeq Project, The Personal Genome Sequencing Outcomes (PeopleSeq) Consortium, REVEAL-SCAN, REVEAL and MedSeq and PGen. Genomes to People collaborates with Genomes2Veterans, Econogenomics Working Group and Genomics and Life Insurance Working Group.
The BabySeq Project
The project is lead by Robert. C. Green, MD at Brigham Women’s Hospital and Alan H. Beggs, PhD Boston Children’s Hospital to investigate genome sequence-based screening in newborns for earlier screening and diagnosis for diseases that may develop in childhood. Funding has been provided by the National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI).
The BabySeq Project is a randomized clinical trial designed to examine the best use of genomics in clinical pediatric medicine. While all babies will receive state-mandate newborn screening, babies in the sequencing arm of the study will also receive a genomic sequencing report with known pathogenic or likely pathogenic genetic variants. If these babies develop health conditions that may have an underlying genetic cause, they may also receive further analysis of their sequencing information focusing on genes associated with that condition. In order to monitor the impact of the genomic information parents will answer survey questions.
The MilSeq Project
Funded by the Department of Defense through the Air Force Medical Support Agency, the MilSeq Project is examining the incorporation of while exome sequencing (WES) into the United States Air Force (USAF) military health system. Active-duty USAF service members are enrolled in the study.
The Personal Genome Sequencing Outcomes (PeopleSeq) Consortium
PeopleSeq is funded by the NIH and is a large-scale longitudinal study to examine experiences, attitudes and outcomes of healthy adults who obtain exome or genomic sequencing. The study will involve surveying people who plan to or have already received their own genomic sequencing data through commercial or research avenues that use different return of results models. The study aims to collect data on the medical, behavioral and economic impact of genomic sequencing in healthy adults.
Risk Evaluation and Education of Alzheimer’s Disease: the Study of Communicating Amyloid Neuroimaging (REVEAL-SCAN) is a project funded by the NIH and is a clinical trial to study the impact of communicating results that suggest preclinical Alzheimer’s disease in people who are cognitively normal. The study aims to examine whether an individual’s knowledge of their biomarker status biases their performance in cognitive tests, provides psychological or social harm and ow the knowledge impacts preventative health behaviors. Cognitively normal people aged 65-80 will be enrolled in the study and participants will be randomized to receive results of their amyloid PET brain imaging or not and followed for a 6 month period.
The MedSeq Project
The MedSeq Project is a clinical trial studying the impact of whole genome sequencing in healthcare, expected to be completed in 2022. The MedSeq Project is a clinical trial studying the impact of whole genome sequencing in healthcare, expected to be completed in 2022. MedSeq results of a pilot randomized trial published in 2017 showed a high incidence of disease-causing mutations in people not showing disease which raised questions about the medical justification for testing.
The BabySeq and MedSeq projects have revealed unanticipated genetic variants associated with disease and previously unrecognized clinical features of genetic conditions. They discovered unanticipated genetic variants in 16 out of 110 adults (14.5%) and 18 out of 159 infants (11.3%). A few of these patients were confirmed to have clinical features of the genetic condition which was previously unrecognized. Medical interventions were effective in three of those cases.
Genome sequencing raises alarms while offering patients few benefits
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine
Jason L Vassy, Denise M Lautenbach, Heather M McLaughlin, Sek Kong, Kurt D Christensen, Joel Krier, Isaac S Kohane, Lindsay Z Feuerman, Jennifer Blumenthal-Barby, J Roberts, Lisa Lehmann, Carolyn Y Ho, Peter A Ubel, Calum A MacRae, Christine E Seidman, Michael F Murray, Amy L McGuire, Heidi L Rehm, Robert C Green