Radio Review: Health Check - Would You Want to Find Out About an Inherited Genetic Condition?

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.