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The Times asked a panel of medical experts to review the results of Mark Henderson’s genetic scan.
The experts were Professor Shirley Hodgson, clinical geneticist, St George’s Hospital, London; Paul Pharoah, cancer geneticist, Cambridge University; Imran Rafi, GP and member of the Primary Care Genetics Society; Glen Brice, genetic counsellor, St George’s Hospital.
Kari Stefansson, chief executive of deCODEme, responded to their comments.
FALSE REASSURANCE
A big concern was that results could provide false reassurance to people with
a family history of cancer. The service screens for common variants that
affect breast, colon and prostate cancer, but not for major mutations that
greatly raise risk.
Professor Hodgson “If my mother and sister have died of breast cancer because of [a major mutation], and I come out of this with a less than average risk, it may be completely wrong because it’s not testing for the gene that’s causing cancer in my family.”
Dr Pharoah “A low-risk result doesn’t negate your family history, but people may interpret it as if it does.”
Dr Stefansson “These are important criticisms and we will address them. Our site doesn’t make this sufficiently clear. We will change it, we don’t want to give false impressions.”
RISK AND AGE
The results do not assess how risks change with age.
Dr Pharoah “Most people who are going to get asthma are going to get it by the time they’re 20. This lifetime risk of 18 per cent hasn’t taken into account the fact that you’ve got to 33 without developing asthma.”
Dr Stefansson “This is a good point. Risk does change with age, and we are working on ways to reflect that.”
COUNSELLING
The experts were worried that people were tested for a variant that confers a
high risk of Alzheimer’s, about which nothing can be done, without any
counselling.
Dr Pharoah “You would worry for the rest of your life, and when you get to the age of 60, and start forgetting something, you’d start thinking, ‘Ooh, am I getting the first symptoms?’. ”
Mr Brice “This can cause real psychological distress. You really do need to have pretest counselling before this is done.”
Dr Stefansson “We are going to have to disagree. I resent the patronising view I should have a genetic counsellor next to me.”
INTERPRETATION
The panel felt many people would struggle to interpret the results, and
approach GPs who would be poorly placed to advise them.
Dr Rafi “Are GPs really going to be able to interpret these risk generations? I don’t think they are going to be familiar with the scientific information behind this.”
Dr Stefansson “I’m not going to be held responsible for the poor education of GPs. This helps to empower the patient.”
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With respect to Mr Brice's view on distress and the need for counselling: there are other tests that have been removed from the doctor patient context - eg. home pregnancy testing. There is no suggestion that there should be pre-test counselling but results might potentially be very harmful such as implications for HIV, hereditary disease or unwanted pregnancy for other reasons. Potential for similar psychological distress. This gives the question of what would make genetic information more special. In the same way, counselling is not given before, say information about potential heart disease - potentially fatal, and so on.
Tracey Pharoah, Durban, South Africa