Abstract
Germline mutations in cancer-susceptibility-genes (CSG) can dramatically increase womens' lifetime risk of ovarian, endometrial, breast and bowel cancers. Identification of unaffected carriers is important to enable proactive engagement with highly effective screening and preventive options to minimise cancer risk. Currently, a family-history model is used to identify individuals with CSGs. Complex regional referral guidelines specify the family-history criteria required before an individual is eligible for genetic-testing. This model is ineffective, resource intense, misses >50% CSG carriers, is associated with underutilisation of genetic-testing services and delays detection of mutation carriers. Although awareness and detection of CSG-carriers has improved, over 97% carriers remain unidentified. This reflects significant missed opportunities for precision-prevention. Population-based genetic-testing (PBGT) represents a novel healthcare strategy with the potential to dramatically improve detection of unaffected CSG-carriers along with enabling population risk-stratification for cancer precision-prevention. Several research studies have assessed the impact, feasibility, acceptability, long-term psychological outcomes and cost-effectiveness of population-based BRCA-testing in the Ashkenazi-Jewish population. Initial data on PBGT in the general-population is beginning to emerge and large implementation studies investigating PBGT in the general-population are needed. This review will summarise the current research into the clinical, psycho-social, health-economic, societal and ethical consequences of a PBGT model for women's cancer precision-prevention.
Original language | English |
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Pages (from-to) | 139-153 |
Number of pages | 15 |
Journal | Best Practice & Research Clinical Obstetrics & Gynaecology |
Volume | 65 |
Early online date | 13 May 2020 |
DOIs | |
Publication status | Published - May 2020 |
Bibliographical note
RM is supported by an NHS Innovation Accelerator (NIA) Fellowship and by The Eve Appeal for Population Testing.Keywords
- Breast Neoplasms/diagnosis
- Colorectal Neoplasms, Hereditary Nonpolyposis/ethnology
- Early Detection of Cancer
- Female
- Genes, BRCA1
- Genes, BRCA2
- Genetic Predisposition to Disease/ethnology
- Genetic Testing/methods
- Genetics, Population
- Hereditary Breast and Ovarian Cancer Syndrome/ethnology
- Humans
- Mutation
- Neoplasms
- Ovarian Neoplasms/diagnosis