Patient and Family Preferences on Health System-Led Direct Contact for Cascade Screening.

Area of Science:

• Genetics
• Public Health
• Cancer Research

Background:

• Precision medicine relies on identifying genetic risks within families.
• Hereditary cancer syndromes, like HBOC and Lynch syndrome, necessitate cascade genetic testing for relatives.
• Current methods of informing relatives are often insufficient.

Purpose of the Study:

• To design a patient- and family-centered program for directly contacting relatives about hereditary cancer risks.
• To explore the acceptability and requirements of a health system-led direct contact program for cascade genetic testing.

Main Methods:

• Qualitative study involving two rounds of data collection.
• Focus groups and individual interviews were conducted with patients diagnosed with hereditary cancer syndromes and individuals with a family history of hereditary cancers.

Main Results:

• Direct contact by U.S. health systems is acceptable to patients and families.
• Programs should be systematic, obtain relative consent before proband testing, and complement existing disclosure methods.
• Programs must allow relatives to control the information they receive.

Conclusions:

• A programmatic approach to direct contact can effectively recommend cascade genetic testing to relatives.
• Implementing specific requirements can improve the reach and benefit of genetic testing programs for at-risk family members.
• This strategy holds potential to benefit more relatives than current patient-mediated approaches.