Genomic Secondary Findings Research Initiative

The Genomic Services Research Program investigates the impact of returning medically-actionable secondary findings (SF) from genome and exome sequencing. This observational study examines how recipients understand these findings, communicate them to healthcare providers and family members, and adhere to recommended health actions over time.

Key objectives include:

• Assessing clinical utility of SF through healthcare actions and family communication patterns
• Evaluating penetrance of SF-related disorders in an unselected population
• Conducting bespoke phenotyping for selected participants at NIH facilities

The study involves 5,000 participants who have received SF through various NIH sequencing initiatives. Eligible participants include English- or Spanish-speaking individuals aged 1 month and older who have received SF results, with special considerations for minors, decisionally-impaired adults, and pregnant women.

Research focuses on four primary outcomes:

1. Recipient responses and perceptions after SF disclosure
2. Family-based positive predictive value of SF
3. Adherence to medical recommendations
4. Health impacts of receiving SF results

This long-term study (2014-2028) represents a significant effort by the National Human Genome Research Institute to understand the real-world implications of genomic medicine.