Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community...

Area of Science:

• Genomics
• Population Health
• Genetic Counseling

Background:

• Population genomic screening is expanding, necessitating an understanding of participant experiences.
• Assessing the clinical utility of genetic results in unselected individuals is crucial for public health advancement.

Purpose of the Study:

• To explore the experiences of individuals receiving clinically actionable genetic results from population genomic screening.
• To identify key themes related to the process, psychosocial responses, behavioral changes, and family communication.

Main Methods:

• Qualitative interviews were conducted with 60 participants who received clinically actionable results from the MyCode© Genomic Screening and Counseling program.
• A two-step inductive coding process (thematic analysis) was used to analyze interview transcripts, focusing on four domains: process, psychosocial response, behavioral change, and family communication.

Main Results:

• Participants reported satisfaction with the results disclosure process.
• Initial psychological reactions varied (positive, neutral, negative) but participants adjusted positively over time.
• Individuals undertook clinically indicated actions and communicated results to close relatives.

Conclusions:

• Receiving clinically actionable genetic results through population screening generally elicits favorable responses.
• Findings may alleviate concerns about patient distress and inform future biobanks and genomic screening initiatives.