The Coriell Personalized Medicine Collaborative is a pioneering research study that seeks to explore the utility of genome information in clinical decision-making. The goal is to better understand the impact of genome-informed medicine and to guide its ethical, legal and responsible implementation. This research study is a collaborative effort involving volunteer study participants, physicians, scientists, ethicists, genetic counselors and information technology experts. The study seeks to initially enroll 10,000 participants.
A saliva sample is collected from each study participant and genotyped on the Affymetrix Genome-Wide Human SNP Array 6.0 and DMET Plus metabolism GeneChip. Additionally, phenotypic data – including demographic, lifestyle, medical history, family history, and medication intake – is obtained from the participant through the CPMC web portal.
CPMC participants can optionally consent to have their genotypic and phenotypic data used for broader scientific research. For such participants, their data will be de-identified and submitted to the National Center for Biotechnology Information's database of Genotype and Phenotype (dbGaP). Scientists who want to access this data will need to establish an account with dbGaP. The study documents posted at dbGaP will include the study protocol, the medical history questionnaire(s) and consent form(s), along with the genome-wide genotype data generated using the Affymetrix 6.0 DMET Plus GeneChips.
Access to de-identified phenotypes and genotypes for individual CPMC participants will be authorized by a Data Access Committee (DAC) established by the Coriell Institute for Medical Research. Scientists requesting access to data will be required to complete a Data Use Certification (DUC). The DAC will assure that the proposed study falls within the research purpose to which the participants consented. Requestors must agree to acknowledge the contributors of the original study and their funding organizations and are required to submit an annual research progress report.