Radio Review: Inside the Ethics Committee - Genetic Testing in Children

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.