To tell or not to tell: Family communication about genetic risk 7/1/04. By Karen Forrest What issues are important to people when telling (or not telling) relatives about a family history of genetic disease? Karen Forrest and Sheila Simpson have been investigating.

It can obviously come as a shock to find out that one has a genetic change associated with a serious adult-onset disorder such as Huntington's disease or hereditary breast/ovarian cancer. The implications for one's future health can be profound. But the implications go further: as their name suggests, hereditary diseases run in families, so family members may also be affected? If so, should the family be told?

Clinical geneticists or genetic counsellors often have to inform patients about relatives who are potentially at risk. Yet some patients may decide not to tell their close or wider family of their genetic status, or choose to only tell certain family members. If information is withheld from at-risk relatives, medical professionals may face the dilemma of whether or not to break confidentiality in the interests of preventing potential harm.

Little research has been carried out in this area previously, and little is known about why people do or don't share information with their families. Yet these issues are likely to become even more important in the future. As genetic testing becomes increasingly sophisticated, more and more people will have access to (and have to make decisions on) genetic information that could have implications for their relatives' health.

With funding from a Wellcome Trust Biomedical Ethics grant, Karen Forrest and Sheila Simpson at the University of Aberdeen, and colleagues in Aberdeen and Ottowa, have been investigating the factors that help or hinder people choosing to tell their family about genetic risk. The research involved in-depth interviews with patients in the northeast of Scotland who had attended genetic counselling for risk of Huntington's disease or of hereditary breast/ovarian cancer. Some spouses or partners were also interviewed.

The two diseases were chosen because they differ in a number of ways: in the certainty of the predictive information available to individuals, in the potential for risk reduction interventions and in the familiarity of the general population with the two diseases.

Who should tell – family or genetic counsellor?

In general, families saw disclosure of risk information as their own responsibility, with genetic counsellors and geneticists in a supporting role. However, the issue of how and when to tell relatives was a significant problem for some people.

Individual and familial factors

Individual and familial factors such as the nature of pre-existing relationships, patterns of interaction and people's different coping styles can act to promote or hinder communication about genetic (and any other) information. Potential barriers can include divorce or separation, remarriage after the death of an affected relative, emotionally distant relationships and little or no contact with particular relatives because of social, geographic or genetic distance.

Different families may also have more or less open patterns of communication generally, and this may apply to discussions about genetic risk. In addition, at the level of individual family members, there may be different attitudes towards disclosure and ways of coping with knowledge of genetic risk. Within families, therefore, the co-existence of different patterns in individuals may lead to tensions about whether and how information is shared.

The study also found that people had to make sense of their own risk, and have time to do this, before dealing with whether and what to tell relatives. In addition, it was often the women in a family who took responsibility for passing on information (and for initiating contact with a genetic counsellor).

Pragmatism, prevarication and responsibility

The research suggests that telling relatives might be more usefully viewed as a process than an act. Two broad styles of telling were identified – 'pragmatism' and 'prevarication'. Pragmatic respondents tended to talk about disclosure in fairly active, practical terms, while prevaricators described a process of looking for opportunities within the normal processes of family life, such as family gatherings for Christmas, and might take months or years to find the 'right moment'.

Another important issue related to 'generational responsibility' – needing to do the right thing for children. While people felt the need to 'protect' children for as long as possible, they also knew that the children needed to be told in time to make key life decisions such as having children and taking preventive action. This seemed a more pressing issue for families at risk of Huntington's disease than for hereditary breast/ovarian cancer, presumably because of the differing implications of carrier status; for example, as prenatal testing is available for Huntington's disease, knowing about one's risk could influence a person's reproductive decisions. As a result, many parents felt it important to tell their children before they started dating or were thinking about getting married.

Generational responsibility also extended to the children of relatives, but family members may not share the same views about when their respective children should be told about genetic risk.

Authority within a family

Cultural beliefs about family structure, kinship and authority may also promote particular patterns of communication. From the interviews, there seemed to be implicit rules about who gets told, or not, and who takes precedence in being 'allowed' to tell. For example, within a family, regardless of who had first received genetic information, parents were seen as having the primary responsibility to pass on information to any offspring (adult or younger) at risk. In addition, a woman testing positive for BRCA1 would be expected to allow her brother or sister to disclose such information to a niece or nephew rather than do it herself, although this may be further complicated by an individual's response to risk information as they not want to know. Hence, there were also tensions if participants felt that they could neither pass on information to relatives who needed to know (such as nieces and nephews) nor persuade those with authority (the parents) to do so.

The notion of authority also extended 'vertically'. For example, a grandmother may have more authority to pass on information than an aunt, even when she is not at genetic risk herself while the aunt is. From a practitioner's perspective these findings are important because if lay constructs of the family and kinship are a social construct they may not be in line with geneticists' views of family relationships, or about which blood (or non-blood) relatives should be informed and by whom; this is also likely to be dependent on the cultural and ethnic context.

Availability of risk management strategies or interventions

More participants in the hereditary breast/ovarian cancer group grew up knowing about their family history than in the Huntington’s disease group. These differences may reflect more open styles of communication in the former families, perhaps relating to the more visible nature of the disease, less stigma and the availability of risk management strategies or interventions.

Interestingly, it was clear that in the hereditary breast/ovarian cancer group, other relatives had contacted some participants to alert them of their risk, but also to find out information about that side of the family. Hence there was a sense that, by being in contact, relatives could 'trade' information about who had developed the disease, which in turn helped to generate a more precise estimate of one's own risk.

Previous research generally supports the notion that uptake of genetic testing is higher where interventions are available, perceived as effective, and acceptable (testing rates for BRCA1/2 are higher than for Huntington’s, for example), and this seems to be matched by an increased likelihood that people will inform their relatives.

Expected outcomes

Ultimately, the team hopes that, by bringing attention to who may benefit from such information and assisting patients to make considered decisions about disclosure, a greater understanding of the issues at work in individual families may help genetic counsellors and other health professionals. Nonetheless, there continues to be considerable international debate over whose duty it is to inform at risk relatives and the nature of how 'directive' health professionals should be in this area.

Dr Sheila Simpson is in the Department of Medical Genetics, University of Aberdeen.

Karen Forrest is a Research Fellow in the Department of Public Health, University of Aberdeen.

Further reading

Forrest K, et al (2003) To Tell or not to Tell: Barriers and facilitators in family communication about genetic risk. Clinical Genetics 64: 317-326. Abstract