Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
clinical practice personalized medicine
genotype-first approach
precision screening
research findings/results in healthcare
return of results to biobank participants
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
22
02
2022
accepted:
21
06
2022
entrez:
8
8
2022
pubmed:
9
8
2022
medline:
9
8
2022
Statut:
epublish
Résumé
Although hereditary breast cancer screening and management are well accepted and established in clinical settings, these efforts result in the detection of only a fraction of genetic predisposition at the population level. Here, we describe our experience from a national pilot study (2018-2021) in which 180 female participants of Estonian biobank (of >150,000 participants in total) were re-contacted to discuss personalized clinical prevention measures based on their genetic predisposition defined by 11 breast cancer-related genes. Our results show that genetic risk variants are relatively common in the average-risk Estonian population. Seventy-five percent of breast cancer cases in at-risk subjects occurred before the age of 50 years. Only one-third of subjects would have been eligible for clinical screening according to the current criteria. The participants perceived the receipt of genetic risk information as valuable. Fluent cooperation of project teams supported by state-of-art data management, quality control, and secure transfer can enable the integration of research results to everyday medical practice in a highly efficient, timely, and well-accepted manner. The positive experience in this genotype-first breast cancer study confirms the value of using existing basic genomic data from population biobanks for precise prevention.
Identifiants
pubmed: 35938029
doi: 10.3389/fgene.2022.881100
pii: 881100
pmc: PMC9355130
doi:
Types de publication
Journal Article
Langues
eng
Pagination
881100Informations de copyright
Copyright © 2022 Jürgens, Roht, Leitsalu, Nõukas, Palover, Nikopensius, Reigo, Kals, Kallak, Kütner, Budrikas, Kuusk, Valvere, Laidre, Toome, Rekker, Tooming, Ülle Murumets, Kahre, Kruuv-Käo, Õunap, Padrik, Metspalu, Esko, Fischer and Tõnisson.
Déclaration de conflit d'intérêts
PP was employed by the company Antegenes The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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