Should I test my genes? The price of life.

In the light of research into the human genome, Adam Wishart investigates whether the new knowledge gained has led to improved healthcare benefits, particularly, in his case, relating to hereditary cancer. Looking at his family tree, many generations on his maternal side have died of various forms of cancer and also on his paternal side, his father and both his father's parents. Adam visits the genetic counsellors at Guy's hospital, London. The counsellor, Chris Jacobs, indicates that there is a relatively low risk of hereditary cancer even with the pattern of cancers in the family. However, they would need his aunt to have genetic counselling to research this possbility. Alternatively, there are commercial companies in the US who claim to empower people by getting them to pay for access to genetic information. We visit a woman whose mother has Huntingdon's Chorea; she does not know whether she or her daughter has the gene - having the gene means that they will definitely develop the disease. Her mother is not shown as she was unable to communicate and give informed consent to the programme. Returning to Adam's dilemma, after counselling, his aunt is discovered not to have the faulty gene. However, with Ashkenazi Jewish ancestry, there is a greater risk of a particular genetic mutation within this community. A woman decides to have a double masectomy after she has discovered that she is a carrier ot the breast cancer gene, although she has no symptoms of cancer. A couple have IVF and have their fertilised embryos screened for an unusual chromosome defect (PGD; preimplantation genetic diagnosis), which has led to many miscarriages and premature twins who died. Another couple who have already gone through this process talk about their young child who has the life limiting genetic disease, cystic fibrosis. He has a sister who was conceived using pre-implantation screening. Wishart speaks to Professor Michael Baum about the complexity of what goes into our genetic make-up. A couple in Newcastle decides to go through PGD after members of their family had terminal breast cancer and are carriers of the faulty gene. The couple with the chromosomal defect above have a pregnancy test onscreen. Familial hypercholesterolaemia is a genetic condition and Professor Steve Humphries is doing a study about it. If all the members of effected families are tested, then statins can be prescibed to prevent heart-attacks later. Unfortunately, the NHS is not priorising this kind of screening. Another of the UK's most prevalent genetic conditions is sickle cell anaemia. A woman of Afro-Caribbean ethnicity and her two teenage children are sufferers. She comments on the historical lack of information. She is now active in health promotion about sickle cell. A film 'The Family Legacy' tries to inform, particularly the West-African communities. It has proved more difficult to get men screened for the disease and vox pops are shown at an informal screening at a barber-shop. The sreening choices are abortion, pre-conception testing and PGD. Adam visits the National Screening Centre. It seems there is no appetite to roll out a programme of whole-scale genetic testing. He then receives his genetic counselling results, finding he does not have the faulty cancer gene either. Information arrives via email relating to his DNA test from America. Some of the results are a bit discomfiting. He returns to Guy's Hospital to try and interpret this data.