A Systematic Review of Patient-Reported Measures for Individuals Who Underwent Genetic Testing for Heritable Cancer

Area of Science:

• Genomic Medicine
• Oncology
• Patient-Reported Outcomes

Background:

• Genomic technologies are transforming cancer care, enabling early screening and targeted interventions.
• Understanding patient experiences and outcomes is crucial for effective precision medicine delivery.
• Patient-reported measures (PRMs) are preferred over administrative data for evaluating these outcomes.

Purpose of the Study:

• To systematically review and qualitatively summarize PRMs used in heritable cancer genetic testing.
• To identify and describe existing PRMs and their focus areas.

Main Methods:

• Systematic literature review with specific search terms for genetic testing and patient-reported outcomes in cancer.
• Exclusion of reviews, meta-analyses, and protocols.
• Inclusion of studies reporting outcome measures directly from patients undergoing germline genetic testing for heritable cancer.

Main Results:

• Identified 83 PRMs from 39 studies involving 16,523 participants.
• 30 of the identified measures were genetics-specific, focusing on knowledge, perceptions, concerns, interest, and acceptability.
• Most studies were from the USA, focused on breast cancer, and included Caucasian, college-educated, and employed participants.

Conclusions:

• Most studies were conducted in countries with legal protections against genetic discrimination.
• There is a need for more research on cancers other than breast cancer to standardize outcome collection.
• A significant overrepresentation of studies included white, well-educated, and employed participants, highlighting a need for broader representation and development of additional PRMs.