Rosemarie Kelly, genetic counsellor at the National Centre for Medical Genetics, says the more she does her job, the more she realises there is to know
I was the first genetic counsellor in the Republic, appointed to work at the National Centre for Medical Genetics in 1998. It was definitely a challenge in the beginning, but now eight years later we have currently three full-time and one part-time genetic counsellors working in the service which is based in Our Lady's Hospital for Sick Children, Crumlin, Dublin. Ideally, there should be one genetic counsellor for every quarter of a million people which would mean that we need a minimum of another 12 genetic counsellors.
As genetic counsellors, we have a unique job in that we have a counselling/therapy background combined with science/medical knowledge of genetics and inherited diseases. There are three aspects involved in our job; diagnostic, estimation of risks and a supportive role.
Also, we see families rather than individuals which is very different from other areas of the allied medical profession. Each of us has at least one weekly clinic, but often in that week we see urgent referrals as they arise, or families who may have more questions following a distressing diagnosis.
We also hold regional genetic clinics in Galway, Cork and Limerick. Every person seen at clinic will receive a letter outlining our clinic discussion, so it is easier for them to retain facts and figures. The service is free and we accept referrals from medical professionals.
We see people individually or as couples or families, depending on the condition. At each appointment, I ascertain what the individual or couple know about the referral, the reason why they believe they have been referred.
If there is a known diagnosis, I discuss this with them and explain what it means and how it may have occurred. I help them to understand the medical facts including the diagnosis.
I also discuss the ways heredity contributes to the disorder by drawing a detailed family tree. This helps explain complex medical jargon in a more understandable format.
People generally want to know why the condition arose, and the likelihood of it recurring and to try to make the best possible adjustment to the genetic condition.
We see individuals with recessive disorders such as Cystic Fibrosis, Frederick's Ataxia. Families with X-linked conditions for example, Duchenne muscular dystrophy and fragile X. Chromosomal problems, such as translocations [ conditions in which a number of genes appear in an swapped over position].
Each case has to be treated sensitively as members of the family may have experienced bereavement or loss from the genetic condition.
We also see individuals with a family history of dominant conditions and offer pre-symptomatic tests for some conditions. I have responsibility for people with Huntington's Disease. It's important to realise that although someone is at risk of developing a condition they may not always want to know.
For those who do, it is imperative that they are adequately prepared to receive an unfavourable result. Often people don't go beyond the testing process and it is my role to prepare individuals to go beyond the test to the result stage. I see each person a minimum of four times.
My job can be very challenging in that the longer I do it, the more I realise that I'll never know everything there is to know about genetic conditions. Genetics is an area of medicine that is changing so rapidly. It can also be emotionally charged in that I can be dealing with bad news results and trying to help people deal with their subsequent distress.
But sometimes, there is good news. I often talk to people about how we manage to go through life, living with uncertainty despite the fact that we think we want certainty. Certainty of developing a genetic condition can be disarming.
(In conversation with Sylvia Thompson)