The discovery of genes underlying inherited predisposition to breast and ovarian cancer has revolutionized the ability to identify women at high risk for these diseases before they become affected. Women who are carriers of deleterious variants in these genes can undertake surveillance and prevention measures that have been shown to reduce morbidity and mortality. However, under current strategies, the vast majority of women carriers remain undetected until they become affected. In this review, we show that universal testing, particularly of the BRCA1 and BRCA2 genes, fulfills classical disease screening criteria. This is especially true for BRCA1 and BRCA2 in Ashkenazi Jews but is translatable to all populations and may include additional genes. Utilizing genetic information for large-scale precision prevention requires a paradigmatic shift in health-care delivery. To address this need, we propose a direct-to-patient model, which is increasingly pertinent for fulfilling the promise of utilizing personal genomic information for disease prevention.
|Number of pages||40|
|Journal||Annual review of genomics and human genetics|
|Early online date||21 Apr 2020|
|Publication status||Published - 31 Aug 2020|
R.M. is supported by the Eve Appeal and an NHS Innovation Accelerator Fellowship for research
into population testing. E.L.-L. is supported by the Breast Cancer Research Foundation.
- BRCA1 Protein/genetics
- BRCA2 Protein/genetics
- Breast Neoplasms/diagnosis
- Early Detection of Cancer/methods
- Genetic Predisposition to Disease
- Genetics, Population
- Ovarian Neoplasms/diagnosis
- Risk Factors