Opportunistic genomic screening has clinical utility: An interventional cohort study

Area of Science:

• Genomic Medicine
• Clinical Genomics
• Translational Bioinformatics

Background:

• Genomic medicine is increasingly adopting genome-first approaches.
• Opportunistic screening for secondary findings (SFs) is expanding beyond medically actionable results.
• Clinical utility data for a broad spectrum of SFs is limited.

Purpose of the Study:

• To assess the outcomes of opportunistic screening for a wide range of SFs.
• To evaluate the yield, clinical management impact, and consistency of SFs with patient data.
• To explore the utility of non-medically actionable genetic findings.

Main Methods:

• Adult cancer patients underwent exome sequencing with optional learning of various SF categories.
• Outcomes data were collected via chart review and participant-reported measures up to one year post-result disclosure.
• Analysis included yield, impact on management, and correlation with clinical features and family history.

Main Results:

• All participants (n=139) received at least one reported variant.
• High yields were observed for pharmacogenomic variants (97.8%), common disease risk variants (89.4%), and carrier status (89.3%).
• SFs led to clinical management changes in 28.1% of participants, with many having suggestive clinical features or family history.

Conclusions:

• Opportunistic screening for a broad spectrum of SFs demonstrates potential clinical benefits.
• The findings support the expansion of secondary findings analysis in genomic medicine.
• Further research is warranted to fully understand the long-term impact of broad SF screening.