24 February 2014
ByAppeared in BioNews 743
BBC World Service, Sunday 16 February 2014
Presented by Claudia Hammond
Genetic diagnosis of inherited disease is now routine in the UK, with upwards of 600 different conditions tested for in NHS labs. As genetic sequencing and analysis methods become ever more effective, this figure should grow rapidly over the coming years.
Although ethical issues concerning what and who we should test have been around since the birth of genetic analysis, the calls to address these questions are becoming more urgent. One of the most important places to tackle this is in the clinic, asking how much patients want to know about potential inherited conditions and exploring the implications of their decisions.
Appropriately, the BBC World Service's 'Health Check' covered this ground by using interviews with four people who were all directly affected by genetic disorders, discovering the diverse ways in which they cope and adapt to life in a family carrying an inherited condition. The ever-affable Sir John Burn of Newcastle University provided expert insight into the science involved.
Broadly speaking it is possible to divide people into two groups: those want to have genetic testing and those that do not. However people within these groups do not necessarily behave how you might expect. For example, despite not wanting to be genetically tested for familial breast cancer, Amy Boesky elected for surgery in the mid-90s to pre-emptively remove her breasts and ovaries. Although she will be getting tested in the near future, she describes herself as 'ambivalent' to the results and says she will not regret her decision to opt for surgery, even if she is not found to have an associated genetic mutation.
Another interviewee, Michael Downing, who has a mutation that predisposes for the heart condition hypertrophic cardiomyopathy also acted pragmatically and chose to have a defibrillator implanted into his vena cava. Although in the case of sudden heart failure this should save his life, poor fortune still meant that his life was been fraught with complications. Even though he has been left with a damaged vena cava he proudly stands by his choice, confident that it was the right thing to do with the genetic information he had.
The programme also looked at the other side of the coin with Kate Preskenis who has decided not to be tested for early-onset Alzheimer's despite a family history of the disease. A combination of the lack of a cure if she tests positive and survivors' guilt if her test is negative has seemingly left her in a kind of limbo where she is (understandably) unable to fully come to terms with her situation.
Host Claudia Hammond tactfully and respectfully engaged with each of the interviewees and raised some important points. She noted that those currently being affected by inherited diseases are something of a guinea-pig generation as new knowledge arises.
For example, those families with a child diagnosed with Fragile X syndrome (which causes intellectual disability), are in the peculiar situation in which seemingly unaffected older family members may develop a related condition, FXTAS, due to the late onset of the disease.
This programme was a neat introduction to some of the dilemmas that people with a family history of a genetic conditions face. One thing that became clear was that the title question, 'Would You Want to Find Out About an Inherited Genetic Condition?' is far too vague to have a meaningful response from most people. Although there will be some who will have blanket 'no' or 'yes' answers, a more common reply will be 'it depends' - is the condition treatable? is it fatal? what are the chances I will be affected?
There are a huge variety of genetic diseases and they should never be introduced to patients as if they all fall under the same heading. What is important is that doctors and genetic counsellors give as much information as possible to patients so that any decision they make is informed. Whatever the disease or coping method, the one common message from everyone involved was the huge value of a community of similarly affected people.
Do I want to know if I have a genetic condition? Maybe, but I certainly would need a support group to lean on.