Frontiers in Genetics (Jul 2022)
Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting
- Hannes Jürgens,
- Hannes Jürgens,
- Laura Roht,
- Laura Roht,
- Liis Leitsalu,
- Margit Nõukas,
- Marili Palover,
- Tiit Nikopensius,
- Anu Reigo,
- Mart Kals,
- Mart Kals,
- Kersti Kallak,
- Kersti Kallak,
- Riina Kütner,
- Kai Budrikas,
- Saskia Kuusk,
- Saskia Kuusk,
- Vahur Valvere,
- Piret Laidre,
- Kadri Toome,
- Kadri Rekker,
- Mikk Tooming,
- Mikk Tooming,
- Ülle Murumets,
- Tiina Kahre,
- Tiina Kahre,
- Krista Kruuv-Käo,
- Krista Kruuv-Käo,
- Katrin Õunap,
- Katrin Õunap,
- Peeter Padrik,
- Peeter Padrik,
- Peeter Padrik,
- Andres Metspalu,
- Tõnu Esko,
- Krista Fischer,
- Krista Fischer,
- Neeme Tõnisson,
- Neeme Tõnisson
Affiliations
- Hannes Jürgens
- Tartu University Hospital, Clinic of Hematology and Oncology, Tartu, Estonia
- Hannes Jürgens
- University of Tartu, Clinic of Hematology and Oncology, Tartu, Estonia
- Laura Roht
- Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
- Laura Roht
- Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia
- Liis Leitsalu
- Estonian Biobank, Institute of Genomics, University of Tartu, Tartu, Estonia
- Margit Nõukas
- Estonian Biobank, Institute of Genomics, University of Tartu, Tartu, Estonia
- Marili Palover
- Estonian Biobank, Institute of Genomics, University of Tartu, Tartu, Estonia
- Tiit Nikopensius
- Estonian Biobank, Institute of Genomics, University of Tartu, Tartu, Estonia
- Anu Reigo
- Estonian Biobank, Institute of Genomics, University of Tartu, Tartu, Estonia
- Mart Kals
- Estonian Biobank, Institute of Genomics, University of Tartu, Tartu, Estonia
- Mart Kals
- Institute for Molecular Medicine Finland, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland
- Kersti Kallak
- Tartu University Hospital, Clinic of Hematology and Oncology, Tartu, Estonia
- Kersti Kallak
- University of Tartu, Clinic of Hematology and Oncology, Tartu, Estonia
- Riina Kütner
- North-Estonian Medical Center, Oncology and Haematology Clinic, Tallinn, Estonia
- Kai Budrikas
- Institute of Mathematics and Statistics, University of Tartu, Tartu, Estonia
- Saskia Kuusk
- Estonian Biobank, Institute of Genomics, University of Tartu, Tartu, Estonia
- Saskia Kuusk
- Institute of Mathematics and Statistics, University of Tartu, Tartu, Estonia
- Vahur Valvere
- North-Estonian Medical Center, Oncology and Haematology Clinic, Tallinn, Estonia
- Piret Laidre
- Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia
- Kadri Toome
- Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia
- Kadri Rekker
- Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia
- Mikk Tooming
- Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
- Mikk Tooming
- Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia
- Ülle Murumets
- Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia
- Tiina Kahre
- Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
- Tiina Kahre
- Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia
- Krista Kruuv-Käo
- Estonian Biobank, Institute of Genomics, University of Tartu, Tartu, Estonia
- Krista Kruuv-Käo
- Tartu University Hospital, Tartu, Estonia
- Katrin Õunap
- Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
- Katrin Õunap
- Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia
- Peeter Padrik
- Tartu University Hospital, Clinic of Hematology and Oncology, Tartu, Estonia
- Peeter Padrik
- University of Tartu, Clinic of Hematology and Oncology, Tartu, Estonia
- Peeter Padrik
- 0Antegenes, Tartu, Estonia
- Andres Metspalu
- Estonian Biobank, Institute of Genomics, University of Tartu, Tartu, Estonia
- Tõnu Esko
- Estonian Biobank, Institute of Genomics, University of Tartu, Tartu, Estonia
- Krista Fischer
- Estonian Biobank, Institute of Genomics, University of Tartu, Tartu, Estonia
- Krista Fischer
- Institute of Mathematics and Statistics, University of Tartu, Tartu, Estonia
- Neeme Tõnisson
- Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia
- Neeme Tõnisson
- Estonian Biobank, Institute of Genomics, University of Tartu, Tartu, Estonia
- DOI
- https://doi.org/10.3389/fgene.2022.881100
- Journal volume & issue
-
Vol. 13
Abstract
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.
Keywords
- genotype-first approach
- return of results to biobank participants
- research findings/results in healthcare
- clinical practice personalized medicine
- precision screening
