ACT-ON: Assisted cascade testing via outreach and navigation - Real-world experience with clinician-facilitated...

Area of Science:

• Oncology
• Genetics
• Preventive Medicine

Background:

• Cascade genetic testing is crucial for cancer prevention.
• Current patient-mediated models have low completion rates (approx. 33%).
• Clinician-facilitated testing offers a potential improvement but requires real-world validation.

Purpose of the Study:

• To evaluate the effectiveness and outcomes of a real-world clinician-facilitated cascade genetic testing program.
• To assess the scalability and patient-centeredness of this approach.

Main Methods:

• A program was implemented for clinician-facilitated contact, education, and testing assistance for at-risk relatives.
• Probands consented to direct outreach to relatives regarding familial pathogenic variants.
• Relatives received education and assistance with genetic counseling and testing, with six-month follow-up.

Main Results:

• 103 probands identified 139 at-risk relatives; 65% were successfully contacted and educated.
• 88% of contacted relatives requested assistance with cascade testing.
• 77% of contacted relatives completed genetic testing within six months; 68% would not have tested without support.

Conclusions:

• Clinician-facilitated cascade testing successfully engaged two-thirds of at-risk relatives in a real-world setting.
• This model demonstrates potential to overcome patient-mediated testing limitations.
• The approach offers a scalable, patient-centered strategy for enhancing cancer prevention through genetic testing.