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Medicolegal and insurance issues regarding BRCA1 and BRCA2 gene tests in high income countries
  1. Riccardo Oliva1,
  2. Simone Grassi2,
  3. Claudia Marchetti3,4,
  4. Francesca Cazzato5,
  5. Roberta Marinelli5,
  6. Giovanni Scambia3,4 and
  7. Anna Fagotti3,4
    1. 1Department of Women’s and Child Health and Public Health Sciences, Obstetrics and Gynecology, Università Cattolica del Sacro Cuore - Campus di Roma, Roma, Italy
    2. 2Department of Health Sciences, Section of Forensic Medical Sciences, University of Florence, Firenze, Italy
    3. 3Università Cattolica del Sacro Cuore - Campus di Roma, Roma, Italy
    4. 4Department of Women’s and Child Health and Public Health Sciences, Gynecologic Oncology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy
    5. 5Section Legal Medicine, Institute of Public Health, Università Cattolica del Sacro Cuore - Campus di Roma, Roma, Italy
    1. Correspondence to Dr Anna Fagotti, Fondazione Policlinico Universitario A. Gemelli, IRCSS, Largo Francesco Vito 1, 00136, Rome, Italy; anna.fagotti{at}


    Hereditary breast and ovarian cancer syndrome is an autosomal dominant cancer susceptibility syndrome mainly due to variants in BRCA1 or BRCA2 genes. Patients presenting with BRCA1 or BRCA2 gene mutations have a lifetime risk of developing breast or ovarian cancer (80% and 40%, respectively). Genetic testing to explore the predisposition to develop cancer represents a pivotal factor in such cases, and this review wants to explore the main implications in terms of medicolegal liability and insurance issues. Medicolegal issues related to these diagnostic processes include: (a) failure to recommend the test; (b) failure to properly interpret the test; (c) failure to correctly translate results into clinical practice; (d) lack of informed consent; and (e) failure to refer patients to specialized genetic counseling. Such errors may lead to compensation since the legal burden inherent in the efficacy of prophylactic interventions is a proof that requires the so-called ‘preponderance of the evidence’. Concerning insurance issues, the carriers of such alleles without cancer are healthy because the genetic predisposition is not a disease per se but represents a (relevant) health risk. However, disclosure of these conditions can be impelled by insurers. It can lead to so-called ‘genetic discrimination’ because insurance companies might use genetic information to limit insurance options or increase their costs. Many private and public healthcare funders do not cover risk reducing surgeries, even when recommended as part of a risk reduction management plan for BRCA gene mutation carriers. Here, positions on these matters from different high income countries are discussed, stressing the importance of a common supranational or international regulatory framework to reach a trade-off between the economic interests of insurers and the rights of carriers not to disclose extremely sensitive information.

    • BRCA1 Protein
    • BRCA2 Protein
    • Ovarian Cancer
    • Neoplasms
    • Gynecology

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    • RO and SG contributed equally.

    • Contributors RO and SG contributed equally and are joint first authors. Conception of study: AF and GS. Guarantor: AF and GS. Design and development: RO, SG, CM, and AF. Data collection: RO, SG, CM, FC, and RM. Data analysis: RO, SG, CM, FC, and RM. Preparation of tables: SG and FC. Initial draft of the manuscript: RO, SG, CM, FC, and RM. Manuscript writing, review, and approval: all authors.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial, or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.