The All of Us Research Program | National Institutes of Health (NIH) is part of an effort to advance individualized health care by enrolling one million or more participants to contribute their health data over many years. The program aims to reflect the diversity of the United States and to include participants from underrepresented groups. The goal of All of Us is to advance health research discoveries, enabling new kinds of individualized health care.
All of Us participants can opt to have their DNA analyzed and receive personal health-related genetic information regarding whether:
- they may have an increased risk of developing certain health conditions (Hereditary Disease Risk report) or
- how their body might react to certain medicines (Medicine and Your DNA report)
Approximately 2% of All of Us participants may receive a DNA health-related result. “Hereditary Disease Risk” results will be confirmed by the All of Us program in a CLIA lab; “Medicine and Your DNA” results will not. The All of Us findings are not necessarily consistent with a diagnosis. Referral to a specialist for clinical evaluation is recommended.
- “Hereditary Disease Risk” results will be delivered to All of Us participants by a genetic counselor.
If clinical testing confirms an increased risk:
Conditions and Genes on the Hereditary Disease Risk Report
59 genes associated with a variety of inherited conditions are analyzed and reported (see table below). The 59 genes were chosen by the American College of Medical Genetics and Genomics (ACMG) because they are associated with conditions that have a definable set of clinical features, the possibility of early diagnosis, a reliable clinical genetic test, and effective intervention or treatment. The goal of reporting these results to an individual is to provide medical benefit by preventing or better managing health conditions. The 59 genes are informally referred to as the “ACMG 59” or “ACMG Secondary Findings v2.0″.
PMID Gene Reviews Entry: 20301425; Genes: BRCA1, BRCA2; Inheritance: AD; Typical Age at Onset: Adult;
Connective Tissue Disorder
PMID Gene Reviews Entry: 20301667; Genes: COL3A1; Inheritance: AD; Typical Age at Onset: Child/Adult
PMID Gene Reviews Entry: 20301725; Genes: MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA; Inheritance: MYBPC3 & MYL2 – AD, GLA – XL; Typical Age at Onset: Child/Adult
PMID Gene Reviews Entry: 20301685; Genes: ATP7B; Inheritance: AR (recommend searching only for individuals with biallelic mutations); Typical Age at Onset: Child
PMID Gene Reviews Entry: 20301325; Genes: RYR1, CACNA1S; Inheritance: AD; Typical Age at Onset: Child/Adult