BRCA cascade counselling and testing in Italy: current position and future directions

Area of Science:

• Genetics
• Oncology
• Public Health

Background:

• Genetic testing for BRCA1/2 variants aids in identifying hereditary breast and ovarian cancer (HBOC) risk.
• Barriers in intrafamilial communication and privacy regulations impede preventive care for HBOC.
• Italian legal constraints limit the disclosure of genetic risks to at-risk relatives.

Purpose of the Study:

• To examine the relationship between BRCA1/2 carriers' communication challenges and cancer status.
• To assess the impact of genetic information comprehension on communication.
• To compare communication challenges based on the genetic counseling pathway (TGC vs. MCG).

Main Methods:

• A multicenter, prospective, observational study of 277 BRCA1/2 carriers (probands and relatives).
• Participants completed sociodemographic forms, surveys, and psychological assessments (IES, DT).
• Statistical analysis included Chi-squared/Fisher's exact tests and Wilcoxon rank-sum test.

Main Results:

• Cancer prevalence was higher in probands (83%) than relatives (22%).
• Psychological distress was associated with cancer diagnosis rather than genetic status.
• Genetic comprehension was significantly higher in relatives and those receiving TGC compared to MCG.

Conclusions:

• Psychological distress and genetic comprehension significantly influence communication regarding hereditary cancer risks.
• Traditional Genetic Counseling (TGC) enhances understanding of genetic risks and management more effectively than Mainstream Cancer Genetics (MCG).
• Tailored support is needed for carriers and healthcare professionals to improve cascade counseling, testing, and cancer prevention.