How did you first get into medicine?
I think I always wanted to become a doctor so I could help people. Funnily enough, my older brother always wanted to be a vet but was convinced by his careers adviser that medicine was better paid, so he started training before I did.
I had a rather odd career pathway working in general medicine, intensive care and respiratory medicine before taking a long break to bring up children and run a farm. I decided that after my break I wanted to specialise in clinical genetics, because I was fascinated by what actually causes disease and whether you can prevent people from developing particular conditions.
Clinical geneticists specialise in diagnosis, advising about and sometimes managing genetic conditions. It's a rapidly moving specialty. I investigated what I would need to do to become a clinical geneticist and then did some paediatric training and an MSc in medical genetics before training in a genetic centre.
What inspired you to pursue your specialty?
Clinical genetics is a fascinating specialty which, although clinical, requires an understanding of molecular genetics and cytogenetics. There have been massive changes and advances in laboratory testing of genetic conditions, which has led to improved understanding of the conditions and more accurate and rapid diagnosis.
Clinical geneticists can specialise in various fields, including dysmorphology, prenatal diagnosis, cardiac genetics, neurogenetics and cancer genetics. As a geneticist you spend a lot of time talking with and counselling patients. Most of my own work involved patients with family histories of cancer and Huntington's disease, but I also had an interest in inherited endocrine diseases.
I liked the fact that, as we had long appointments, I could get to know an individual and their family and sometimes saw different members of the same family over many years.
I could get to know an individual and their family, and sometimes saw different members of the same family over many years.
Patients with an increased risk of genetic conditions may have to make very difficult decisions, such as deciding on prophylactic surgery or long-term screening, and it's very important to be able to give them the information they need to make their decisions and to support them whilst they do so. Identifying people who are not at any higher risk of cancer than the general population, despite their family history, is also important.
Clinical geneticists work closely with consultants from other specialties, genetic counsellors and laboratory staff, and that was also an enjoyable part of the job.
How does clinical genetics differ from other medical settings?
In order to pursue higher specialist training in clinical genetics a doctor has to undertake between three and five years of general professional training in general medicine or paediatrics or both, and have obtained a postgraduate diploma (MRCP or MRCPCH). There is competitive entry into the four-year specialist registrar training.
Clinical geneticists usually give advice to patients and other clinical specialists rather than treat patients, and the work is outpatient-based. There can be a lot of travelling depending upon where you work.
Clinical geneticists generally work in regional services and are usually based in large cities.
What additional skills have you learned as a result?
There are many ethical issues in clinical genetics, particularly with the advent of whole genome sequencing – for example, prenatal diagnosis of an increasing number of conditions. I developed an interest in medical ethics and sat on both the clinical ethics committee and the research ethics committee, as well as being an ethics tutor for the medical school. This led to an interest in medical law and I undertook an MPhil in Medical Law, which in turn led to my present role as a medicolegal adviser.
What advice would you give to a student who is considering this specialty?
I think that you need to speak to a clinical geneticist if you are interested in a career in clinical genetics, and perhaps sit in with them to see the work they do.
Clinical genetics is a fascinating specialty and you need to continually keep up to date with clinical and scientific developments. There are many opportunities for subspecialisation and developing particular interests.
Clinical genetic counselling is non-directive and does not usually involve treatment of patients. Therefore, it would probably not be a suitable career for people who like to carry out procedures or work out treatment plans for patients.
Dr Carol Chu
MDU Medico-legal adviser
Dr Carol Chu
MDU Medico-legal adviser
MB, ChB, MSc (Medical genetics), MD, MRCPI, MPhil (Medical Law) DLM
Carol qualified at Sheffield University. She attained her CCST in clinical genetics and spent 13 years as a consultant clinical geneticist, the last six of these also being the Head of Department, managing not only the clinical department; doctors, counsellors and administrative staff (including records) but also the three laboratories. She left the NHS to pursue a longstanding interest in medical ethics and medical law as a medicolegal adviser for the MDU in 2011. She was also chair of a research ethics committee for 10 years.
See more by Dr Carol Chu