Clinically Actionable Findings Derived From Predictive Genomic Testing Offered in a Medical Practice Setting

Area of Science:

• Genomic Medicine
• Clinical Genetics
• Preventive Healthcare

Background:

• Predictive genomic testing offers insights into an individual's genetic predisposition to diseases.
• Integrating genetic screening into routine medical practice can enhance proactive healthcare strategies.

Purpose of the Study:

• To evaluate the prevalence of clinically actionable genetic findings in healthy adults undergoing predictive genomic testing.
• To assess the utility of genomic screening in a medical practice setting.

Main Methods:

• A predictive genomics clinic was established for generally healthy adults.
• Patients received pretest and posttest genetic counseling.
• Genome sequencing and gene panel testing were offered, with 301 of 1281 patients undergoing testing between 2014 and 2019.

Main Results:

• Clinically actionable results were identified in 11.6% of tested individuals (35/301).
• Among those with cancer or cardiovascular results, over 50% lacked relevant personal or family history.
• Carrier status for recessive conditions (53.8%) and variants for multifactorial diseases (44.5%) were also common.

Conclusions:

• Predictive genomic screening identified actionable pathogenic variants in 11.6% of healthy adults.
• Wider adoption of predictive genomic services could benefit medical practice by enabling early detection and intervention.
• Further research is warranted to fully understand the impact and implementation of these services.