Clinical Genetics deals with the diagnosis and management of inherited disorders and birth defects. It is an exciting, rapidly evolving specialty at the cutting edge of medicine.
Clinical geneticists must continually take account of new discoveries that alter clinical practice. They have an important role to play in public education and debates about ethical issues arising from new developments in the clinical application of genetic knowledge.
Clinical geneticists generally work in multidisciplinary regional genetic centres in close collaboration with laboratory scientists, clinical co-workers (genetic counsellors) and academic colleagues. Doctors in this specialty need a wide range of clinical skills, as genetic disorders can affect people of all ages and involve all body systems. Communication skills are particularly important, as the clinical geneticist must explain complex concepts and genetic test results to families so that they can make informed decision and choose an appropriate course of action.
Our Higher Specialist Training programme includes training in Clinical Biochemical Genetics, which deals with inborn errors of metabolism and the diagnosis, genetic counselling and management of patients with inherited metabolic diseases. Training in Clinical Genetics is completed in two stages:
- Basic Specialist Training in General Internal Medicine (or an equivalent programme) – Two years
- Higher Specialist Training in Clinical Genetics – Four years
Download Clinical Genetics HST curriculum 2022 (PDF, 773KB)
Access mandatory courses for this specialty
What do clinical geneticists actually do?
They see individuals and families at risk of inherited disorders. They take their family tree, examine the individual and discuss the disorder. They also assess children and adults to help make diagnoses in suspected genetic disorders.
Many of the disorders are rare and the clinical geneticist must try and provide information about the disorder, new treatments and give recurrence risks. They discuss options in terms of avoidance of recurrence in any future pregnancies. They have to know who is coming to clinic in advance and "work them up" so that they know what is available in terms of testing and where in the world they need to send blood samples for testing. A lot of the work-up occurs post-clinic. They often need to discuss cases including radiology with colleagues internationally. This involves entering data on secure websites to seek opinions etc. They need to liaise with foreign and local labs to order what tests need to be done and where the sample needs to go to.
What qualities or personal attributes do you need to be a good clinical geneticist?
You need to be inquisitive, to have an interest in the thorough investigation of a family. You need to be prepared to go back and request post-mortems, review of old historic patient records, radiology etc, all with the aim of confirming diagnoses or helping someone identify the likely cause of a family's problems. You need to be prepared to do many pubmed searches etc. You also need to be empathetic and non-judgemental. Increasingly, doctors in this specialty need to learn to be competent in bioinformatics. They also need to be part of multidisciplinary teams and help colleagues with the interpretation of genetic test results, particularly with the advent of next generation sequencing.
We asked a clinical geneticist: What are the pros and cons of a career in clinical genetics?
"The pros would be: Interesting career, never boring. You have to keep on top of science. You cannot keep still And the cons: As a specialty, clinical genetics is a misunderstood by healthcare managers who do not understand the value of prevention. It is difficult to measure the cost savings from prevention so all preventative specialties have been hardest hit by the austerity measures. This translates into: Workload is enormous and support very poor… But it’s still worth it."