Family history is an important element of a patient's risk profile for developing a number of medical conditions, including breast and ovarian cancer.1
Knowledge of family history, however, requires reciprocal communication, from patients to family members. Ensuring that family members are made aware of the risk of their relatives is not straightforward as patients are not legally required to disclose their medical information to their relatives, and confidentiality requirements prohibit health-care professionals from disclosing information to third parties including family members.2, 3
Nevertheless, a moral duty for patients to disclose has been recognized and calls have been made to encourage patients to share their information within their families.2, 3, 4
Guiding patients through the intrafamilial communication (IFC) process is not straightforward as it requires patients to receive complex information from their health-care provider, which they must then transmit to the family, while reconciling conflicting interests between patients and family members.5, 6, 7
Receiving and transmitting genetic information, by itself, is a complex task. Research suggests that patients' and families' abilities to understand genetic information can act as barriers to IFC.8
Indeed, a patient's poor understanding of their own cancer risk has been cited as a factor influencing their decision to disclose, while patients with inconclusive results, or who are carriers, are less likely to disclose their information and report more difficulties explaining their results to relatives.3, 9, 10
In addition, not all family members are willing to communicate. In families with BRCA1/2 mutations, some members are effective at gathering and disseminating health information, whereas other members are blockers, reluctant to learn, and transmit health information.7, 11
Further, contextual factors, such as gender, relationship, and cultural background, have each been shown to influence decisions to communicate. For example, patients are more likely to share with female relatives over male, more likely to tell children or siblings than parents, and first-degree relatives over second- and third-degree relatives.8, 9, 12
Individual relationships with family members and patients' own definitions of who is a family member have also been shown to influence the level of responsibility one feels to disclose.2, 13
Finally, expectations surrounding IFC vary by culture, whereby genetic testing for BRCA1 in the Netherlands presupposes active and harmonious involvement of relatives, in contrast to testing in the United States, which does not.14
The complexity and delicate nature of IFC raises the question of how patients are supported and counseled, at a practical level, to identify and reconcile these challenges and barriers when contemplating IFC? What are their needs with respect to communicating risk information with family members? Who among actors in the health-care delivery system can address their needs and how are they guided? To our knowledge, such questions have not been addressed, although the need to develop targeted interventions for patients to promote family communication has been recognized.9, 15, 16
Indeed, some jurisdictions, such as Australia, have recently proposed legislation that would allow health-care professionals to inform their patients' relatives of their risk for genetic disease.17
In other jurisdictions, for example in Canada, the question of whether a doctor is bound by professional responsibility to inform relatives of their patient of the risks of inherited disease has been recently litigated at the appeal level (V Watters, White, 2012 QCCA 257, Quebec Court of Appeal).
We conducted an exploratory qualitative study asking to what extent existing resources address the reported challenges and barriers to IFC. We focused our research on breast cancer as it is a cancer for which surveillance and risk reduction options are available to those at higher risk based on family history.18
Further, as significant documentation and resources are available for breast cancer, our research represents a test case for IFC for other cancers or hereditary disease. As IFC involves two-way communication between health-care professionals and patients, and patient and family, we hypothesized that health professional associations, health service organizations, and patient associations each have a potential role in influencing IFC of genetic cancer risk between patients, their health-care professionals, and families. Guided by questions from our published studies,2, 6
we examined text and web-based documents, such as pamphlets, guidelines, and recommendations, aimed at patients and/or health-care providers in the cancer care delivery landscape and isolated the messages surrounding IFC.