Do you have to be interested in research to be a clinical geneticist?

No, but in reality the rarity and scientific importance of many of the diseases that are encountered in routine clinical practice makes familiarity with and interest in research almost inevitable.

How do you choose an area of research?

This varies between individuals just like the choice of medical specialty. Some people become engrossed in one area of clinical genetics which then leads to a research programme. Others may be inspired by a consultant they work with. For some it starts from an individual patient. One real advantage of working within clinical genetics is the collaborative nature of most clinicians and departments, which means potential access to a larger national cohort of patients.

Isn’t the diagnosis of genetic disorders becoming just a matter of sending off samples to the DNA lab?

Some aspects of genetic diagnosis are already part of routine non-specialist clinical practice. But the complexity of both the genome and genetic phenotypes - combined with the discovery of new genetic diseases and mechanisms all the time - will ensure a long-term role for clinical geneticists in diagnosis, management and follow-up of rare genetic disorders.

What subspecialty interests in clinical genetics are going to be important in five years' time?

Cancer and cardiac genetics will continue to grow in importance due to effective screening and intervention programmes. The prospect of effective therapies for degenerative disorders is making neurogenetics and ophthalmic genetics increasingly attractive. The diagnostic tools available to dysmorphologists will facilitate the discovery of many new paediatric genetic diseases. Areas such as pharmacogenetics and psychiatric genetics are also emerging as significant subspecialties.