As genetics is primarily an outpatient-based specialty it is more feasible to combine clinical and academic work than in many specialties. In the clinic, an average consultation lasts between 30 and 45 minutes, allowing time for examination and to explore issues with the family. A consultation could vary between assessing a dysmorphic child and discussing potential recurrence risks, assessing risks of malignancy in a family with a history of cancer, explaining chromosomal rearrangements and their implications, or guiding patients through predictive genetic testing protocols.
The variety of problems requires both a detailed knowledge of the subject and an ability to communicate complex issues. It also requires an understanding of the science and problems and solutions are discussed with scientists in diagnostic labs.
Academic clinicians generally undertake special interest clinics which inform their laboratory-based or clinical programmes of research - and of course they have lab meetings, attend academic seminars and give presentations. In theory, the week can be divided into blocks of time split between the clinic and research but in practice you do still need to be a good time manager. There is also an overlap between clinical work and research since we see rare conditions which may not be well understood and can lead to research programmes. Furthermore, results of research may be directly relevant to the patients we see in clinic.
In practice most clinicians have a subspecialty interest which determines their pattern of work. Ward referrals and urgent consults with families referred, for example with a foetal anomaly, have to be fitted in - though it is unusual to be called at night.
What is most rewarding about being a clinical geneticist?
Genetics is never boring given the great variety of clinical scenarios we encounter and the rapidly changing science base. There is literally new knowledge every week affecting options for diagnosis, and increasingly, for treatment and management too. Even in routine situations, from a diagnostic point of view, the human responses to the same diagnosis and risk vary enormously.
Working in teams is another bonus with colleagues in the genetic centre and in other multidisciplinary clinics. There are many opportunities to teach and transmit your enthusiasm for the subject. Research opportunities are not limited to academics and every clinician has the chance to make major contributions through clinical observations which can often be key to gene identification or understanding gene function.
