Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk...

Area of Science:

• Oncology
• Genetics
• Public Health

Background:

• Current guidelines recommend genetic testing for all ovarian cancer patients.
• Many patients with prior ovarian cancer diagnoses have not undergone genetic testing, missing opportunities to identify inherited cancer risks.
• Post-mortem genetic testing of deceased patients' pathology specimens can provide crucial genetic risk information to surviving family members.

Purpose of the Study:

• To address the healthcare gap in genetic risk assessment for ovarian cancer patients.
• To implement and evaluate a 'traceback testing' approach for individuals with a prior ovarian cancer diagnosis.
• To assess ethical and privacy concerns associated with traceback testing, particularly for deceased patients.

Main Methods:

• The Genetic Risk Assessment in Ovarian Cancer (GRACE) study utilizes a traceback testing strategy.
• Utilizes tumor registries and archived pathology tissue for identification and testing.
• Employs descriptive and statistical analyses to evaluate tissue availability, patient/health system characteristics, and contact/uptake rates between living and deceased patients.

Main Results:

• The study assesses the feasibility of implementing an ovarian cancer traceback testing approach.
• Compares the ability to contact and the uptake of genetic testing in living versus deceased patients.
• Identifies health system and patient characteristics associated with pathology tissue availability.

Conclusions:

• Traceback testing offers a method to identify individuals with inherited high-risk cancer variants among those with a prior ovarian cancer diagnosis.
• The study's findings will guide the implementation of future genetic risk assessment and traceback programs in ovarian cancer.
• Addressing ethical and privacy concerns is essential for successful implementation of traceback testing.