BBC Radio 4, Thursday 22 August 2013
Presented by Baroness Joan Bakewell
Following the loss of her husband Alan, Rachel struggles with their four children and a future that seems very uncertain. Alan was diagnosed with Li-Fraumeni syndrome (LFS), a rare disease that causes a huge increase in susceptibility to cancer. The disease is inherited, which leaves Rachel with a strong desire to have her children tested to determine whether they also have LFS.
In Radio 4's 'Inside the Ethics Committee,' Joan Bakewell guides listeners through real-life clinical cases. In this episode, she is joined by Rachel, the ethics committee, and experts Professor Gareth Evans, Consultant in Medical Genetics at Central Manchester University Hospitals; Deborah Bowman, Professor of Ethics and Law at St George's University of London; and Richard Ashcroft, Professor of Bioethics at Queen Mary, University of London. The topic - testing for genetic disease - is particularly relevant following the controversy surrounding Angelina Jolie's double mastectomy due to a defective BRCA1 gene.
Rachel's situation is a highly distressing one. Each of her children carries a 50/50 chance of having inherited LFS, and although this can be determined by a simple blood test, it is debatable whether testing is in the children's best interest.
Li-Fraumeni syndrome is a rare disease caused by mutations in the TP53 gene. TP53 is a tumour suppressor gene, playing an essential role in regulating DNA repair and cell growth and death. When one copy of the geneis mutated, the risk of cancer is dramatically increased: 20 percent of individuals with LFS develop cancer in childhood, 50 percent by age 50, and 90 percent by age 70.
Genetics consultant Helen Hansen explains that as LFS is associated with many types of cancer, no screening protocol to detect cancer development has shown to be of benefit. Some procedures, including breast screening in women, and whole-body magnetic resonance image (MRI) screening, can be offered to adults with LFS, but not children. For this reason, genetic testing is not recommended until the late teenage years, when children can become more involved in the choices available to them.
Rachel's four children are aged between two and 12, but she says 'I feel that I could protect my children by being forewarned about what this gene could do'. For her, this means taking them to the doctor more readily, and considering the effect of X-rays and smoking, although Hansen states that these lifestyle factors are not proven to have an effect in cases where there is such a high risk, as in LFS.
Gareth Evans explains that although children of ten to 12 years tend to cope very well with genetic testing, most tests are followed by early surveillance, making it hard to predict the effect of a genetic test conducted in isolation. Knowledge of a positive result could have huge psychological effects on the children and could create a family divide if only some of the children are affected, especially if they are treated differently. Most tellingly, over half of adults with a family history of LFS choose not to be tested.
The panel considers the finer details of the problem: would Rachel test all the children at the same time? At what age would she tell the children? Would the older siblings be asked to keep the results secret from the others? Ultimately, although the ethics committee decides whether Rachel can have the children tested, how and when she decides to tell the children is up to her.
In my opinion, the episode did not sufficiently cover the children's side of the story. Rachel said she had been honest with them about their father's illness, and we also learn that several members of the extended family were affected. We do not learn exactly how informed, or anxious, the children are about the risk they carry. The opinion of a child psychologist, or a young person with a family history of genetic disease, may have added greater insight to the show. Interestingly, Deborah Bowman is asked to comment as a mother of teenage children, but no one manages to put themselves in the children's shoes. A perfect example comes from Gareth Evans: 'The one thing I would say is that if the children ask the question they're ready for the answer'; a statement that definitely did not apply to my younger self.
After being enthralled by the debate, and extremely empathetic for Rachel and her family, the show's conclusion was unsatisfying. The panel did recommend against testing, but as Rachel was well-informed, they did not deny her request. The genetics counsellor decided that testing the children individually would cause too much trauma, so all children were tested, and sadly more than half were positive. Although the 'children's best interest' is referred to throughout the show, you couldn't help but wonder if, given the choice at a later age, Rachel's children may have been one of the many who decide not to be tested. Whether Rachel regretted her decision was left uncertain, but the show concluded with the most sensible solution of all: to take each day as it comes.