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Egenis · Research

Complex risks and testing for genetic thrombophilia: a case study on genes and common disease (2003-2005)

Paula Saukko

Start date

2003-04-01

Affiliated staff

John Campbell and Suzanne Richards (Primary Care, PMS), Sian Ellard, Andrew Hattersley and Maggie Shepherd (Molecular Genetics, PMS)

Background

It has been suggested that in the future genomics will help to identify individuals ‘at risk’ for common disease, such as cardiovascular disease, diabetes and cancer, and to offer them preventive advice and treatments. There are hardly any studies on how individuals interpret and respond to being tested for a low risk genetic susceptibility to a disease. In this study we explored how individuals, who have undergone testing for a susceptibility to deep vein thrombosis (DVT), interpreted the test and what implicationsit had on their lives. Thrombophilia provided a good case for the study as it is one of the very few genetic susceptibilitytests currently provided through the NHS. It is common (1:25 individuals have thrombophilia), it can be tested for in mainstream genetics (e.g. via a GP) and people, who have tested positive, can take preventive actions (avoidance of oral contraceptive Pill, hormone replacement therapy (HRT), precautions during flights, pregnancy and surgery and healthy lifestyle).

Aims

  • How do people, who have had a genetic test for a low risk susceptibility to deep vein thrombosis interpret the test?
  • What did they do with the information?
  • Do individuals from different backgrounds and in different situations interpret the test and its repercussions differently?

Methods

Qualitative interviews with 42 individuals in south west England, who had had a genetic test for thrombophilia. Analysis of six months of traffic on an internet support group for people with thrombophilia.

Findings

  • Individuals who had been tested did not consider the test to be ‘special’ or ‘exceptional’ even if it identified a genetic susceptibility. They thought it was similar to non-genetic tests for, for example, cholesterol or for diabetes. Participants considered the test to be far less serious than a genetic test for predisposition to breast cancer or a non-genetic test for HIV.
  • Individuals who had tested positive for thrombophilia had stopped taking the oral contraceptive or HRT and taken precautions during flights but had not changed their lifestyle. Most were not unduly worried about thrombophilia and frequently estimated their risk to be low. This indicates an emerging way of interpreting genetic information not as providing “in depth” knowledge about one’s health or identity but as occasionally relevant “surface” information, used to make specific health-care decisions.
  • Particularly well-educated individuals had a good understanding of the test and its implications. They had often sought additional information on thrombophilia from relatives and the internet. Other participants, often from less privileged backgrounds, had a poor understanding of the test - seven participants were unaware of having had the genetic test.
  • The exchanges in the online support group for people with thrombophilia were significantly different from the offline interviews. The most active participants in the online group had frequently experienced at least one DVT and the discussion revolved around the use of anticoagulant medications, which have potentially serious side-effects. Some exchanges in the group as well as comments by the interviewed people indicated that those people who merely had a risk of a DVT found the discussion on drugs alienating. This draws attention to how a genetic risk may be experienced differently in different contexts and calls for more research on internet communities and their role in constructing emerging “at risk” identities.

Policy implications

Testing for genetic susceptibilities in mainstream medicine is a new or emerging phenomenon, and the practices and policy on testing are only just beginning to take shape. Based on our study we observed:
  • People do not necessarily perceive genetic information as “exceptional” or vastly different from other medical information. Against this finding, it may not be advisable to devise special modes of delivering genetic susceptibility tests, as this may frame these tests as unusual and unduly serious. Still, the fact that some participants understood the test poorly indicates that mainstream medicine may not currently be prepared to manage genetic tests properly. There is a need to develop new modes of delivering genetic susceptibility testing that grounds them in ordinary healthcare but guarantees that all people, particularly those from less privileged background, obtain sufficient information about the tests and their implications.
  • Our finding that people did not change their lifestyle dampens hopes that genetic susceptibility testing would motivate people to adopt healthier habits, and other research has pointed in a similar direction.
  • The fact that our participants had used the genetic test results to avoid specific medications may indicate that people may be prone to use genetic information to avoid or to take medications, which may lead to increasing trust in pharmaceutical solutions.

Publications

Policy Brief: Read more on 'Are Genetic Tests Exceptional?'

Articles

Saukko, P., Genetic risk online and offline: Two ways of being susceptible to blood clots, Health, Risk & Society, 11, 1, 2009, pp. 1-16

Saukko P., Ellard, S., Richards, S., Shepherd, M. & Campbell, J. (2007). Patients' understanding of genetic susceptibility testing in mainstream medicine: A qualitative study on thrombophilia, BMC Health Services Research, 7, article82. Download the article from BioMed Central here

Saukko, P., Richards, S., Shepherd, M., Campbell, J. 'Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia', Social Science and Medicine, 63, 7, 2006, pp. 1947-1959.

Saukko, P., 'Genomic susceptibility-testing and pregnancy: something old, something new', New Genetics and Society, 23, 3, 2004, pp. 313-325.

Saukko, P., ‘The internet as a patient information tool’, Genomics Network, 1, 2004, pp. 16-17.