Roles in clinical genetics

The various roles within the clinical genetics departments are distinct. The following summaries outline the specialisms and responsibilities of each discipline.

If you would like to find out more about a specific clinical genetics department in the UK, you can view this interactive map, which includes referral information and contact details.

Clinical geneticists are medically trained doctors who specialise in genomic conditions. They use a combination of medical knowledge and specialist understanding of molecular biology to diagnose and manage a range of patients at different stages of life and with various different clinical presentations.

Clinical geneticists see patients throughout life where genomics could be relevant. For example, they may see a child with a rare disease, a woman whose unborn child may have a genetic diagnosis, or an adult with a newly diagnosed heart condition. They receive referrals from GPs and hospital-based specialists in other departments, such as paediatricians or cardiologists.

Clinical geneticists are responsible for the long-term medical care of a wide range of patients: both those diagnosed with genetic conditions – whom they manage throughout their lives, ensuring that they benefit from any advances in treatment as and when they emerge – and those with an undiagnosed rare disease, for whom they seek answers.

Genetic counsellors are patient-facing healthcare professionals specially trained to support patients through genomic testing and diagnosis. They use expert knowledge of both genomics and counselling to ensure that those referred to them are offered genomic testing where appropriate, and to guide patients through the testing process and any results returned to them and their family.

Genetic counsellors assess genomic risk, communicate genomic information, and support individuals and families through genomic testing and diagnoses. It is their responsibility to represent patients in multidisciplinary team meetings and to communicate decisions and results back to their patients, ensuring that the patient has fully understood and is able to consider any options available to them.

The genetic counsellor’s work often overlaps with that of the clinical geneticist. Genetic counsellors may offer counselling to individuals and families once a diagnosis has been made – for example, after a child has been diagnosed with a rare disease – or they may receive referrals from individuals questioning their risk of inherited conditions. In these instances, the genetic counsellor will often manage families without the involvement of a clinical geneticist, ordering testing and liaising with general practitioners and specialist teams to recommend appropriate follow-up care.

Genomic scientists are healthcare scientists working specifically in genomics. They bring specialist scientific knowledge and skills to the selection of appropriate tests, the processing of patient samples and the interpretation of test results. Genomic scientists fall into two different roles: genetic technologists and clinical scientists.

Genetic technologists specialise in what’s known as ‘wet lab’ work – the processing of samples and the skilled operation of a wide range of apparatus and testing platforms within the laboratory.

Clinical scientists complete postgraduate training in genomic science, and they have a deep understanding of the role that genetic variation plays in disease and molecular biology. Their roles include the selection of appropriate tests that can be used to inform the diagnosis and the management of disease, interpretation of the complex results from genomic testing, and drafting clinical reports. Data interpretation is completed in collaboration with genetic technologists, clinical bioinformaticians and clinical staff. The reports written by clinical scientists are sent to the clinicians managing a patient and their family, explaining the results of genomic testing.

Clinical bioinformaticians are scientists who use their expertise in both computer science and genomics to design and run software pipelines to analyse, filter and organise the data generated by genomic sequencing. The aim is to achieve a workable amount of relevant data that can be interpreted to answer a particular clinical question. They work as part of a multidisciplinary team alongside clinical scientists, medics, genetic technologists and other colleagues.

Bioinformaticians have a variety of scientific backgrounds and have undergraduate and sometimes postgraduate degrees, usually in either a biological science or in computer science. Most NHS bioinformaticians are registered as clinical scientists.

For clinicians

• BMJ Careers: The Complete Guide To Becoming A Geneticist
• NHS Careers: Clinical genetics
• The British Society for Genetics Medicine