11 July 2011
ByAppeared in BioNews 615
BBC2, Tuesday 5 July 2011
Presented and directed by Adam Wishart
Adam Wishart's documentary charted his personal journey to discover the secrets hidden in his genes. After his mother's death from breast cancer, Adam wanted to discover whether he too is genetically at risk of developing the disease. Looking at his immediate family history, he found seven of his mother's 14 brothers, sister and cousins died from cancer. Adam's mother, aunt and grandmother all had breast cancer.
In the documentary, he went to see genetic counsellor Chris Jacobs from Guy's hospital in London and was told only five to 10 percent of cancers are due to genetic susceptibility. The councillor also explained Adam had a 50/50 chance of inheriting a cancer-related gene if his mother was a carrier. Adam's aunt did not have a predisposition to developing cancer, he discovered. The test showed no faults in her BRCA1 and BRCA2 genes linked to hereditary breast cancer. Adam also had the test to see if he had inherited a 'cancer gene' from his mother.
The documentary compared genetic testing carried out on the NHS to commercial testing via the internet. Adam decided to pay for a commercial test. He discovered commercial websites highlighted the importance of genetic knowledge and sold a notion of body ownership and control.
The decision of whether or not to be tested was well covered in the documentary. Adam met Alex whose mother suffered from Huntington's disease caused by a faulty gene on chromosome four. The faulty gene leads to damage to nerve cells in the brain. If you have the faulty gene you will - at some point - develop the disease and there is also a 50/50 chance of passing on the condition.
Alex struggled to decide whether or not to be tested and thought about the implications for her and her daughter. She decided not to take the test, which made Adam reconsider the notion that information is key - in this case it seemed like 'opening Pandora's Box'.
The effect of genetic testing was also explored, especially the effect on Julie who had an 80 percent chance of developing breast cancer. She decided to have a double mastectomy to dramatically reduce her chances of developing the condition. The personal cost to Julie was clearly captured by the documentary, including her emotional turmoil about 'mutilating' her body. Julie wished she had not been tested for 'breast cancer genes'.
The documentary also dealt with PGD - the screening of eight-cell embryos for genetic conditions. The use of PGD was well discussed and the documentary showed the successful process for Tracey and Thomas. The couple had experienced several miscarriages and lost twin boys due to a genetic fault in Thomas' father's family.
The cost of PGD to the NHS is £8,000 a cycle. The chances of being successful through PGD are low: out of the 20 eggs harvested from Tracey only six fertilised. Out of those six, only three were viable for PGD and only one didn't have Thomas' genetic mutation.
The documentary tried to provide some balance about the possible negative implications of genetic testing. Adam met with Michael Baum, a former professor of surgery from University College London who said mutated genes, such as BRCA1 or BRCA2, may be 'stuck' with 'good' genes. By using PGD we may risk selecting out evolutionary advantages along with the mutated genes.
Adam also met Professor Steve Humphries, an expert in the genetics of cardiovascular disease from University College London, to discuss the lack of testing for familial hypercholesteroleamia (FH). FH leads to dangerous high cholesterol, which can cause heart attacks. Professor Humphries wanted the NHS in England to fund screening for this condition like they do in Wales. The cost of screening and treating the estimated 100,000 sufferers would be £10 million; Professor Humphries argued that - in the long term – screening would save the NHS money.
Another visit was to Helen and her family who all have sickle cell anaemia - a genetic condition only inherited if both parents are carriers. In sickle cell, red blood cells turn from their usual doughnut shape to a half-moon shape, which causes them to clump together. This causes pain and potentially serious damage to organs. Helen was campaigning to raise awareness in the African-Caribbean community about the effect of sickle cell and the importance of being tested. Testing for sickle cell is available post-conception with the option of aborting affected fetuses, but Helen believed a system of pre-conception testing would help carriers make decisions about staying with a partner or using PGD.
Finally, Adam met a doctor who tests every at-risk patient joining his practice for sickle cell. But this seemed to be the exception instead of the norm. Dr Anne Mackie, the UK's National Clinical Director for Screening, worried about the ethical implications of advising patients about testing. She also argued that the possibility of wrong results or false positives could cause unnecessary distress.
The documentary ended on the anniversary of Adam's mother's death when he found out he did not have a genetic predisposition to breast cancer. But this jubilant scene was short lived because Adam received the results of his commercial testing. The information about his genetic risks was overwhelming and this highlighted the problems of genetic testing without effective guidance or counselling.
It was a challenge to keep up with all the diverse issues discussed by this documentary. Overall the documentary was well made - it was an informative and highly personal story. It covered a wide range of areas involving genetic testing, particularly the financial, heath and personal cost of testing both for adults and in reproduction.