Clinical Genetics

The Specialty

Clinical Genetics is a medical specialty concerned with the diagnosis of disorders and birth defects caused by genetic mechanisms and with risk estimation and genetic counselling of family members.


Clinical geneticists need a wide range of clinical skills since genetic disorders can effect people of all ages and all body systems. Communication skills are particularly important in transmitting complex concepts and test results to families to enable them to choose appropriate options.


The Clinical Environment
Clinical geneticists generally work in multi-disciplinary regional genetics centres, along with scientists, genetic associates and academic colleagues. 

There is an extensive network of district clinics to give free access to the service. Clinical work is mostly outpatient based but ward referrals are also seen. Some Clinical Genetics units organise an on call rota, particularly for the diagnosis of neonates with abnormalities, where a diagnosis may alter therapeutic intervention. 

Because of the implications of a genetic diagnosis for family members, clinical practice is different from the usual hospital based medicine where the ill patient is the sole user of the medical services.

A Fast-Paced & Constantly Changing Specialty
The specialty of Clinical Genetics is constantly changing and the clinical geneticist must be able to alter practice to take account of new findings and also to be an information resource for other medical specialties. 

Clinical geneticists also play their part in public education as well as providing advice for professional colleagues, NHS purchasers and others.

Essential Qualifications
For entry to the SpR grade, trainees should have spent a minimum of two years in the general training grade (this may shortly be increased to three years) and obtain the MRCP or MRCOG. 

General professional training should have provided experience both in Adult and Paediatric Medicine. 

An intercalated degree in genetics is an advantage but not essential as training in genetics would be given in post. It would be unusual for someone to be appointed to a registrar post thathas not previously displayed an interest in the subject - for instance, by making contact with a regional centre or having joined the British Society for Human Genetics.

Competition is becoming very intense. It would be expected that a trainee would wish to undertake a higher degree (MD or PhD) either before appointment or during registrar training.

Personal Qualities

  • Broad clinical skills are required, as patients are referred from all specialties

  • Ability to distinguish minor signs of a variable dominant disorder from normal variation

  • Ability to work as part of a team of medical, nursing and scientific staff

  • Ability to liaise with other specialties and laboratories

  • Ability to understand the science of genetics and uses for the benefit of families

  • An interest in teaching

  • Excellent communication skills

  • Confidence with computers, especially for searching international database