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The research, published in October’s issue of the prestigious journal Social Science and Medicine, could lead the medical profession to rethink the way it communicates with patients who have these complexgenetic predispositions.
Lead author Dr Paula Saukko of Egenis says: ‘The way in which general practitioners and hospital consultants sometimes introduced the test and communicated its results was too informal and inconsistent seven out of the fortytwo participants did not know that they had had a genetic test for thrombophilia. People who were poorly aware of the potential risk could not take precautions or advice their family members about taking precautions, such as avoiding the Pill or hormone replacement therapy. Those people who were aware of having genetic thrombophilia had given up oestrogen containing medications but had typically not changed their lifestyle.
Thrombophilia receives much less public attention than breast cancer genetics, but it is the most common genetic test in the US and one of the most common in the UK. This is the first study examining the experiences of patients who had undergone genetic testing for thrombophilia in the UK.
The research found that there is a subgroup of patients with a poor understanding of their genetic predisposition to thrombophilia and of the genetic test. Among the participants for this study, this subgroup consisted of older women, mainly from lower social classes, who had poor health. The research team calls for the profession to ensure people with this genetic predisposition are better informed.
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