Abstract
BackgroundIn South-Eastern Norway, genetic testing for BRCA1 and BRCA2 is offered to breast cancer patients by their treating surgeon or oncologist. Genetic counselling from a geneticist or a genetic counsellor is offered only to those who test positive for a pathogenic variant or have a family history of cancer. This practice is termed “mainstreamed genetic testing”. The aim of this study was to learn about patients’ experience of this healthcare service.MethodsQualitative in-depth interviews were conducted with 22 breast cancer patients who had been diagnosed during the first half of 2016 or 2017 at one regional and one university hospital and who had been offered testing by their treating physician. A six-phase thematic approach was used to analyse the data.ResultsThe participants had varied experiences of how and when testing was offered. Three main themes emerged from the analysis: 1. informational and communicational needs and challenges during a chaotic time, 2. the value of genetic testing and 3. the importance of standardised routines for mainstreamed genetic testing.ConclusionsDespite the shock of their diagnosis and the varying experiences they had in respect of how and when testing was offered, all of the participants emphasised that genetic testing had been an important part of their diagnosis and treatment. Our results indicate that there is a need for continuous collaboration between geneticists, surgeons, oncologists and laboratory specialists in order to establish simple and robust routines so as to ensure that all eligible breast cancer patients are offered testing at a point when the test result can have an impact on treatment.
Highlights
In South-Eastern Norway, genetic testing for BRCA1 and BRCA2 is offered to breast cancer patients by their treating surgeon or oncologist
One participant had tested positive for a BRCA2 pathogenic variant
The aim of this study was to improve our knowledge about how breast cancer (BC) patients who have been offered genetic testing by their treating surgeon or oncologist experience this healthcare service
Summary
In South-Eastern Norway, genetic testing for BRCA1 and BRCA2 is offered to breast cancer patients by their treating surgeon or oncologist. Genetic counselling from a geneticist or a genetic counsellor is offered only to those who test positive for a pathogenic variant or have a family history of cancer. Due to high costs, genetic testing was offered only to BC patients with a high risk of being a carrier; i.e. they were young (< 50 years) at the time of diagnosis or had a significant family history of breast and/or ovarian cancer. Recent years have seen great advances in the technology of gene sequencing, leading to increased capacity, shorter turn-around time in the lab, and reduced costs. These changes have made it feasible to offer testing to a greater number of patients. Due to the growing role of the genetic test result in treatment decisions [6,7,8], carrying out the testing at the time of diagnosis or during primary treatment has become more clinically relevant and important
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