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.
Genome sequencing (GS) is increasingly conducted in large-scale human research studies, creating questions for investigators about whether and how to return genetic findings. The American College of Medical Genetics and Genomics (ACMG) recommends that physicians report secondary findings in at least 59 actionable genes (the ACMG59) whenever clinical GS is ordered. In an effort to … Continued
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.