Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway

Eli Marie Grindedal,Cecilie Heramb,Lovise Mæhle,Pernilla Olsson,Tone Vamre,Hilde Lurås,Ellen Schlichting,Berit Gravdehaug,Teresia Wangensteen,Kjersti Jørgensen

doi:10.1007/s10689-020-00160-x

Eli Marie Grindedal, Cecilie Heramb + Show 8 more

Open Access

https://doi.org/10.1007/s10689-020-00160-x

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Abstract

Studies have shown that a significant number of eligible breast cancer patients are not offered genetic testing or referral to genetic counseling. To increase access to genetic testing in South Eastern Norway, testing has since 2014 been offered directly to breast cancer patients by surgeons and oncologists. This practice is termed “mainstreamed genetic testing”. The aim of this study was to investigate to what extent patients in South Eastern Norway are offered testing. Three hundred and sixty one patients diagnosed in 2016 and 2017 at one regional and one university hospital in South Eastern Norway were included. Data on whether the patients fulfilled the criteria, whether they had been offered testing and if they were tested were collected. In total, 26.6% (96/361) fulfilled the criteria for testing. Seventy five percent (69/92) of these were offered testing, and 71.7% (66/92) were tested. At the university hospital, 90.2% (37/41) of eligible patients were offered testing, and at the regional hospital 62.7% (32/51). Fifty two percent (12/23) of eligible patient not offered testing were younger than 50 years at time of diagnosis. As many as 95.4% (125/131) of all patients who were offered testing, wanted to be tested. The majority of patients who fulfilled the criteria were offered testing, supporting the practice of mainstreamed genetic testing. There were nevertheless differences in rates of testing between the hospitals that affected all groups of patients, indicating that genetic testing may not be equally accessible to all patients. We suggest that efforts should be made to increase awareness and improve routines for genetic testing of breast cancer patients in Norway.

Highlights

Germline pathogenic variants in BRCA1 and BRCA2 are associated with a high lifetime risk of breast and ovarian cancer [1,2,3]
Genetic testing is only offered to breast cancer (BC) patients with an a priori high risk of being a carrier of a pathogenic variant, either because they have BC at a young age, triple negative BC (TNBC), or because they have a family history of breast and/or ovarian cancer
In 2014, surgical departments at all hospitals in South Eastern Norway and Department of Medical Genetics (DMG) agreed that the treating surgeon or oncologist could offer newly diagnosed BC patients who fulfill the criteria, diagnostic genetic testing of the BRCAgenes without referring the patient to genetic counseling prior to ordering the test

Summary

Introduction

Germline pathogenic variants in BRCA1 and BRCA2 are associated with a high lifetime risk of breast and ovarian cancer [1,2,3]. Identification of a pathogenic variant in one of these genes in a woman diagnosed with breast cancer (BC) provides critical information for treatment decisions for her current cancer [4,5,6,7,8,9]. Genetic testing is only offered to BC patients with an a priori high risk of being a carrier of a pathogenic variant, either because they have BC at a young age (below 50 years), triple negative BC (TNBC), or because they have a family history of breast and/or ovarian cancer. The Norwegian Breast Cancer Group (NBCG) has developed criteria for BRCAtesting of BC patients based on such risk factors (see Table 1) [13]. Several studies have demonstrated that a significant number of BC patients who fulfill these criteria are neither offered genetic testing nor referred to genetic counseling [16,17,18,19,20]

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