Linking distant relatives with BRCA gene mutations: potential for cost savings

Area of Science:

• Genetics
• Oncology
• Medical Research

Background:

• Thousands have undergone BRCA1 and BRCA2 mutational analysis.
• The Ohio State University identified 466 individuals with BRCA mutations from 289 families.

Purpose of the Study:

• To investigate if rare recurrent BRCA mutations in ostensibly unrelated families are due to independent testing of relatives without awareness.
• To assess the impact of unawareness of prior genetic testing on risk assessment and healthcare costs.

Main Methods:

• Examined 90 pedigrees with recurrent BRCA mutations (seen 3+ times).
• Searched for shared family medical history or surnames among individuals with identical mutations.
• Investigated familial links in 22 shared mutations.

Main Results:

• Identified 9 deleterious BRCA mutations occurring 5+ times and 13 mutations occurring 3-4 times in ostensibly unrelated families.
• Established familial links in 4 out of 22 instances of shared mutations, despite individuals being unaware of prior testing.
• Found that unawareness of previous testing can affect risk assessment and increase costs.

Conclusions:

• Recurrent BRCA mutations may arise from independent testing of unaware relatives.
• Increased BRCA testing necessitates greater awareness of prior family testing to ensure accurate risk assessment and cost-effectiveness.
• Improved communication about genetic testing within families is crucial for efficient cancer screening and management.