Dr Shane McKee MD BSc MRCPCH FRCP(Edin) is a consultant clinical geneticist at the Northern Ireland Regional Genetics Service in Belfast. I’ve found him as the webmaster of several genetics related sites such as the Irish Society of Human Genetics or the Clinical Genetics Society. He has been given the ISHG Young Investigator Award for the best oral presentation at the ISHG annual conference about Benign Familial Infantile Convulsions – a clinically and genetically heterogeneous disorder. He was very kind when I asked him to answer some of my questions. Here is the first part of the interview:
- How and why have you become a clinical geneticist?
Even from before I became a doctor, I was interested in Clinical Genetics, and the role of genetics in the development of humans and other species. Genetic factors underpin a huge amount of the variation in the population, including our susceptibility to disease. At medical school (Queen’s University Belfast) I took a year out of my medical studies to get an intercalated degree in Medical Genetics. I could see that genetics was a field of medicine that promised to revolutionise our understanding of human biology and disease. I still believe that this is the case. But what makes any aspect of medicine worthwhile is the interaction with patients and families. Educating patients in the causes and management of their own conditions can be incredibly rewarding.
- Which fields are you specialized in?
I practice quite a wide range of genetics, and see a very wide range of conditions, from prenatal to general to dysmorphology through to cancer genetics. In some ways, Genetics is one of the last truly general hospital specialties – we can see anything and everything! This is not surprising, because the majority of human disease has at least some genetic element. However, many of us are becoming increasingly specialised, as a result of the sheer breadth of conditions that we have to see. One area of particular interest to me is epilepsy genetics. This is becoming increasingly important as more of the genes causing epilepsy are found, and we’re starting to see how different anti-epileptic drugs might work.
- What are the most often genetic conditions, disorders in your region?
In Northern Ireland we see pretty much the same range of conditions as elsewhere in Europe, although the rates of cystic fibrosis and haemochromatosis are a bit higher here. We also have some population subgroups, such as the Irish Travellers, who have a high rate of disorders such as mucopolyaccharidosis type 1H (Hurler syndrome) and I-cell disease. We also see a lot of hereditary bowel and breast cancer, which is also the case in the rest of Europe.