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Egenis · News

Genetic testing and confidentiality



Hannah Farrimond comments on new guidelines


The General Medical Council has issued new guidance on when, if at all, doctors should break patient confidentiality and share the results of their genetic tests with family members, reports The Times. Below, Egenis Research Fellow Dr Hannah Farrimond considers some of the issues:

"The idea that doctors might override the wishes of patients and share their genetic test results with estranged family members is a powerful one. However, opportunities to encourage people consensually to share valuable family histories of disease are routinely missed.

"As Dr Mark Porter writes in a related article, he has only had to break patient confidentiality once in his whole career, so this is not something which is likely to become commonplace. There are only a handful of genetic tests for serious and life-threatening conditions (e.g. cystic fibrosis, BRCA 1 and 2) of the type which might be covered under the new ‘ethical disclosure’ principle. Furthermore, most families are willing to share their test information with other family members, and encouraging patients to do this is a key part of the genetic counseling process.

"However, informing the family about the results of genetic tests on one individual often falls down for far more prosaic and mundane reasons. Families are complex and fluid; family members may be close at some points but then become estranged, people move, change name, get married, or leave the country. Some people only know one side of their family, while up to half of all non-resident fathers do not maintain regular contact after divorce. Adopted individuals may struggle to find current information on their genetic birth parents; the same for parents who gave their children up for adoption. This guidance assumes that the barrier to sharing is likely to be an unwillingness of the tested individual to divulge this information. This may occur on occasions, where there is an emotional issue in the family. But information sharing about families' disease history is far more likely to be hampered more by practical barriers than emotional ones.

"Furthermore, this guidance focuses only on genetic testing, but not family history screening (which can act as a cheap ‘proxy’ for genetic testing) which is also highly predictive of the risk of many diseases such as heart disease and Type 2 diabetes. Chow and colleagues (2007) have estimated, for example, that if all the first- degree relatives of those who had premature heart attacks were contacted, screened and given preventive treatment, nearly 40% of premature heart attacks could be prevented. However, there are no formal country-wide mechanisms within the NHS for sharing this information between GPs who could call family members in for such checks. Furthermore, patients themselves may remain unaware of the need to pass on such information to all close family members after a heart attack and encourage them to go for screening.

"In conclusion, then, genetic test results and positive family histories of disease act as 'red flags' for health professionals looking to prevent and treat disease. Raising the 'red flag' does not necessarily mean completely abandoning patient confidentiality: it can be done without naming the affected individual and in the vast majority of cases, with their consent. However, this might lead us to ask what is ‘special’ about genetic testing, compared to, say, the knowledge that men from two generations of a family have died of early heart disease by the age of 50. Most people do not want their families to suffer from potentially preventable diseases. Asking about family history in a way which patients can understand should be a standard part of screening for common diseases such as heart disease and Type 2 diseases (Hall et al., 2007; Farrimond et al., in press). Equally, if the person already has one of these conditions, the NHS should seize the public health opportunity of ‘cascade’ screening with consent and tell individuals how important it is to inform close family members, within practical limits.


Chow, C. K., Pell, A.C.H., Walker, A., O'Dowd, C., Dominiczak, A.F. and Pell, J.P. ‘Families of patients with premature coronary heart disease: an obvious but neglected target for primary prevention’, British Medical Journal, Sep 2007; 335: pp 481-485.

Farrimond, H., Saukko, P., Qureshi, N. and Evans, P. (in press). 'Making sense of being at ‘high risk’ of coronary heart disease within primary prevention', Psychology and Health.

Hall, R., Saukko, P., Evans, P., Qureshi, N. and Humphries, S. 'Assessing family history of heart disease in primary care consultations: A qualitative study', Family Practice, 2007, 24(5): pp 435-442.