Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants

Genotype-first approach allows to systematically identify carriers of pathogenic variants in BRCA1/2 genes conferring a high risk of familial breast and ovarian cancer. Participants of the Estonian biobank have expressed support for the disclosure of clinically significant findings. With an Estonian...

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Veröffentlicht in:European journal of human genetics : EJHG Jg. 29; H. 3; S. 471 - 481
Hauptverfasser: Leitsalu, Liis, Palover, Marili, Sikka, Timo Tõnis, Reigo, Anu, Kals, Mart, Pärn, Kalle, Nikopensius, Tiit, Esko, Tõnu, Metspalu, Andres, Padrik, Peeter, Tõnisson, Neeme
Format: Journal Article
Sprache:Englisch
Veröffentlicht: England Nature Publishing Group 01.03.2021
Schlagworte:
Attitude
Biobanks
BRCA1 protein
BRCA1 Protein - genetics
BRCA2 Protein - genetics
Breast cancer
Female
Genetic Carrier Screening - ethics
Genetic Carrier Screening - methods
Genetic counseling
Genetic Counseling - psychology
Genetic Counseling - standards
Genetic screening
Genotype & phenotype
Genotypes
Hereditary Breast and Ovarian Cancer Syndrome - diagnosis
Hereditary Breast and Ovarian Cancer Syndrome - genetics
Hereditary Breast and Ovarian Cancer Syndrome - psychology
Hereditary Breast and Ovarian Cancer Syndrome - surgery
Humans
Ovarian cancer
Patient Compliance
Population genetics
Prophylactic Mastectomy - psychology
Prophylactic Mastectomy - statistics & numerical data
Risk assessment
Surgery
Truth Disclosure
ISSN:1018-4813, 1476-5438, 1476-5438
Online-Zugang:Volltext
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Zusammenfassung:Genotype-first approach allows to systematically identify carriers of pathogenic variants in BRCA1/2 genes conferring a high risk of familial breast and ovarian cancer. Participants of the Estonian biobank have expressed support for the disclosure of clinically significant findings. With an Estonian biobank cohort, we applied a genotype-first approach, contacted carriers, and offered return of results with genetic counseling. We evaluated participants' responses to and the clinical utility of the reporting of actionable genetic findings. Twenty-two of 40 contacted carriers of 17 pathogenic BRCA1/2 variants responded and chose to receive results. Eight of these 22 participants qualified for high-risk assessment based on National Comprehensive Cancer Network criteria. Twenty of 21 counseled participants appreciated being contacted. Relatives of 10 participants underwent cascade screening. Five of 16 eligible female BRCA1/2 variant carriers chose to undergo risk-reducing surgery, and 10 adhered to surveillance recommendations over the 30-month follow-up period. We recommend the return of results to population-based biobank participants; this approach could be viewed as a model for population-wide genetic testing. The genotype-first approach permits the identification of individuals at high risk who would not be identified by application of an approach based on personal and family histories only.
Bibliographie:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:1018-4813
1476-5438
1476-5438
DOI:10.1038/s41431-020-00760-2