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

DOI
https://doi.org/10.3389/fgene.2022.881100
Journal volume & issue
Vol. 13

Abstract

Read online

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