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Poster Discussion session - Public health policy

1746 - Genetic testing of BRCA mutations in breast cancer in six European countries: Barriers and opportunities


20 Oct 2018


Poster Discussion session - Public health policy


Bioethical Principles and GCP;  Targeted Therapy

Tumour Site

Breast Cancer


Maia Thrift-Perry


Annals of Oncology (2018) 29 (suppl_8): viii562-viii575. 10.1093/annonc/mdy297


M. Thrift-Perry1, S. Ahmed2, S. Wait3, J. Tate2

Author affiliations

  • 1 International Affairs, Pfizer, 10017 - New York/US
  • 2 Research, The Health Policy Partnership, WC2N 4JS - London/GB
  • 3 Policy & Research, The Health Policy Partnership, WC2N 4JS - London/GB


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Abstract 1746


Mutations in BRCA1 and BRCA2 are linked to 5–10% of breast cancer cases, often resulting in worse outcomes than non-hereditary cases. Across Europe, genetic testing and optimal management of BRCA mutation carriers face a number of barriers.


We developed seven country profiles: France, Germany, Ireland, Israel, Italy, Sweden and UK. We examined barriers and opportunities in the policy landscape; guideline and testing criteria; advocacy efforts; access to genetic testing and counselling and ongoing support and protection. The profiles were based on pragmatic literature review and qualitative interviews with national level experts including health professionals, researchers and patient representatives.


Preliminary findings currently being verified by the experts include: Oncogenetic testing is integrated in few national (breast) cancer policies, but all selected countries have criteria for BRCA genetic testing. Some countries, e.g. Ireland and Sweden, have stricter eligibility criteria, limiting access. BRCA-related advocacy activities seem sparse. However, demand for genetic testing has soared. In France for example, the number of women tested increased fivefold between 2003 and 2016. Genetic BRCA testing is free of charge in all selected countries except Italy, where it is only free in certain regions. However, women still may face long wait times and geographical inequalities in service provision due to a lack of appropriately trained healthcare professionals. In three of the selected countries, genetic counselling is not mandatory and in many countries availability of genetic counsellors is low, creating a bottleneck to service provision.


This research identified opportunities and recommendations for patients and policymakers to understand what is needed to ensure European women who may be at risk of carrying BRCA mutations can access and utilise high quality services along the whole patient journey.

Clinical trial identification

Legal entity responsible for the study

The Health Policy Partnership.


Pfizer Inc.

Editorial Acknowledgement


M. Thrift-Perry: Employee: Pfizer Inc.; Supported the Health Policy Partnership research: Pfizer Inc. All other authors have declared no conflicts of interest.

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