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Egenis · Research

Patient interpretations of family history in evaluating the risk of heart disease in general practice (2006-2007)

Paula Saukko

Start date


Affiliated staff

Ruth Hall (Egenis), Steve Humphries (UCL), Philip Evans (PMS), and Nadeem Qureshi (Nottingham)


It is predicted that, in the future, genetics will enable the detection of susceptibilities to common diseases such as coronary heart disease (CHD). It is suggested that this will enable early prevention of common diseases via lifestyle change and medications so bringing public health improvements. Yet, it has also been argued that this will lead to further “medicalisation” of healthy but ‘at risk’ individuals and direct attention to genes rather than structural causes of disease, such as deprivation.

Currently there are no valid genetic tests for polygenic susceptibility to coronary heart disease. Instead it is recommended that clinicians assess patients’ family history of CHD, which is an important risk factor. Our project investigates patients’ and clinicians’ views of taking a detailed family history when assessing patients’ CHD risk.

The project involves the use of a Family History Questionnaire tool to assess patients’ family history risk of heart disease. Patients’ consultations with the GP or nurse are video recorded and the content and mode of communication analysed. Patients are interviewed about their experiences of the process and their interpretation of family history risk. Clinicians are also interviewed to explore how family history assessment fits into their usual practice and how they found the use of a specific tool.

The questions being addressed by the project include: How do clinicians communicate risk information to patients? What does it mean to patients to be ‘at risk’? How do patients understand ‘familial risk’ in relation to genes, lifestyle and environment?

The project is expected to provide information for policy makers on the benefits and possible harms of incorporating family history into CHD risk assessment in general practice. It will also contribute to a broader debate in the social sciences about the use of genetic technologies and the creation of ‘at risk’ identities.


  • To analyse how doctors/nurses and patients communicate about family history of heart disease in the clinical consultation.
  • How do participants conceptualise their ‘family history of CHD’ in relation to genes, lifestyle and environment?
  • What does it mean to patients to be ‘at risk’?


Videorecording of 23 consultations between clinicians and patients, who were having their family history assessed, using a questionnaire, as part of the overall assessment of their risk of coronary heart disease. Interviews with patients two weeks afterwards.


  • In the consultations the clinicians tended to perceive family history to indicate “genetic” risk and focused on modifiable risk factors, such as diet and smoking. Patients understood their family history in the broader context of their families’ behaviour and, for example, blood pressure that ran in the family, and often volunteered stories about their families’ health in the consultation. Patients were left with concerns and unanswered questions when these broader questions about family history were bypassed in the consultation.
  • In the interviews the patients related their family history to genes, behaviours as well as social circumstances, such as lack of good food and medications in the past, hard work in the mines, and the war, as well as chance. The patients held complex, multifactorial understandings of family history of heart disease that go beyond genes and individual behaviour.
  • Reducing family history to genes misses its potential to capture the biological, behavioural, social-structural and historical dimensions of heart disease. The narrow understanding of family history caused problems in consultation, as it did not fit with patients’ everyday experience of heart disease and family. Such a narrow understanding would also lead to a limited health-policy, solely focused on genes and lifestyle at the expense of the social and historical factors that play a role in common chronic diseases.

Policy implications

  • Currently clinicians lack a rhetoric to discuss family history of heart disease in terms of gene-environment interaction. If family history assessment is to become part of primary prevention of many common diseases, clinicians should be guided on how to communicate about family history as multifactorial. Otherwise this assessment ends up reproducing problematic genetic determinism and causes misunderstandings in the clinical encounter.
  • Policy-makers in the US and the UK are planning to use family history of heart disease, diabetes and cancer to identify individuals at risk and to offer them preventive advice. However, family history captures not only genetic susceptibilities, but also lifestyle, social deprivation, ethnicity and regional differences, which all play an important role in the development of common diseases. If understood broadly family history could provide a tool and a heuristic to address the biological, behavioural, social and historical dimensions of health and bridge the differences between “personalised” and “social” medicine.


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