TABLE 1.
Characteristics | MyCode® community health initiative (research) | Clinical DNA screening pilot |
---|---|---|
Purpose | Return clinically actionable confirmed findings from research exome sequences to MyCode participants | Return subset of clinically actionable findings from clinically generated exome sequences to unselected patients at participating clinics |
Implementation context | Geisinger population and MyCode participants | Patients receiving care at specific ambulatory clinics (primary and specialty care) |
Who offers/delivers the program | Precision health associates (consenters), GCs, genetic counseling assistants funded through the GSC program | Clinicians at select sites as part of clinical practice |
Screening model | Opportunistic | Proactive |
Genes screened | ACMG SF v2.0 + HFE (c.845G > A, p.C282Y homozygotes) | ACMG SF v2.0 |
Who discloses results | GSC GCs | • GCs modeling the GSC disclosure process (positive results) |
• Ordering clinician via letter (negative results) | ||
Timeline to result return | 6 months–2 years based on sample batch size | 6–8 weeks |
ACMG, American College of Medical Genetics and Genomics; GC, genetic counselor; GSC, genomic screening and counseling.