‘There’s help for a ‘minefield’ of tough decisions’
Dr Marion McAllister is a genetic counsellor and senior lecturer at Cardiff University who is researching new ways of providing NHS services for families affected by genetic conditions.
WHAT is healthcare for? Usually, healthcare aims to treat and cure diseases, and the quality of healthcare services can be judged by the proportion of patients who get better.
But what if the disease affecting you or your relative cannot be treated or cured? What if other people in your family, including your (future) children could develop the same disease? What can health care services do to help you? Although treatment is available for some genetic conditions, most cannot yet be treated or cured. These are some of the difficulties faced by families affected by genetic conditions.
Genetic conditions are whole family concerns. We experience our greatest human passions in our families – love, loss, birth and death. In the midst of these, genetic conditions wreak their cruel havoc. NHS clinical genetics services offer diagnosis of disease, genetic testing and supportive counselling. Specialist information can help families to understand more about the condition, including how it might be inherited and who else in the family might be at risk.
A diagnosis can help families to obtain available medical treatment, or other practical, financial or educational support, empowering the family to cope better with the day-to-day challenges of living with the condition. Healthy family members may use the service to obtain information about their risk of developing the condition in the future, or about their risk of passing the condition on to their children.
For some serious genetic conditions, genetic tests can sometimes be offered in pregnancy, providing parents with the option to terminate affected pregnancies. Supportive counselling can help families to make the best use of genetic information and find their way through a minefield of potentially harrowing decisions. Patients say they derive great comfort from use of genetics services, but there is little hard evidence to “prove” their value.
Do these services provide any real benefits to patients? Without good ways to measure patient benefits, it is hard to know whether services are helping patients and their families as much as they could be. It is also hard to compare new ways of providing these services with traditional ways, which makes it difficult to improve services for patients. One difficulty has been confusion about the nature of patient benefits from clinical genetics, and the best way to measure these.
Dr Marion McAllister is a genetic counsellor and senior lecturer at Cardiff University. You can contact her at firstname.lastname@example.org
This article first appeared in the Western Mail‘s Health Wales supplement on 28th January 2013, as part of the Welsh Crucible series of research profiles.