Careers in Clinical Genetics

Nature of the work

Clinical genetics is concerned with the diagnosis of disorders and birth defects caused by genetic mechanisms. It also involves risk estimation and genetic counselling of family members. The specialty of clinical genetics is evolving rapidly with the development of molecular diagnostic techniques, and increased knowledge about the contribution of genetics to common disorders.

Working in clinical genetics

Clinical genetics is a multidisciplinary role. Specialists generally work in regional genetics centres, along with scientists, genetic counsellors and academic colleagues. 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. Due to the implications of a genetic diagnosis for family members, clinical practice is different from the usual hospital-based medicine where the ill patient is primarily the sole user.

Common procedures / interventions

Clinical geneticists do not prescribe or undertake operative interventions. However, they do advise on appropriate management of rare disorders, genetic testing and consequent screening of 'at risk' family members. Advising on the availability of prenatal testing for a specific disorder is an important role for specialists in this field. Clinical geneticists are also frequently involved in complex ethical and moral dilemmas related to genetic testing.

Associated sub specialties

There are no associated sub specialties of clinical genetics. However, clinical geneticists work closely with obstetricians, paediatricians, neurologists, cardiologists, oncologists and cancer surgeons.

Working Life

What is an average day like?

The average day will include a general genetic clinic, or a specialist clinic such as:

  • Cancer genetics.
  • Paediatric dysmorphology.
  • Prenatal genetics.
  • Neurogenetics.

There will usually be pre-clinic preparation and discussion of cases, as well as contact with laboratories to see where rare genetic tests can be carried out. There may be a request to see a baby on the neonatal unit and the opportunity to have a multidisciplinary meeting to discuss family counselling and investigation. There is little or no out-of-hours or shift work in clinical genetics, and it is outpatient based for most consultations. However, there will also be requests to give a diagnostic opinion on the neonatal unit, paediatric or adult ward. There is a large amount of preparatory work, including literature searches prior to and after seeing a family.

What people work in the same team?

Clinical geneticists work alongside genetic counsellors, molecular and cytogenetic laboratory staff and academic colleagues.

Types of patients

Anyone who has a genetic concern or condition can be referred to the clinical genetic service. This will include patients of all ages with a whole host of conditions. On average, specialists will see between ten and 15 families a week, spread between two to three clinics.

What is most enjoyable?

The excitement of making rare diagnoses and contributing to the medical literature is very enjoyable, as is the pleasure of dealing with families, rather than individual patients. Clinical geneticists frequently give distressing news, but the families themselves may be relieved to get an explanation after many years of investigation.

What is most challenging?

The range of patients and conditions seen is broad. Clinical geneticists must be prepared to deal with families and may see a young baby, elderly person or all ages in between when investigating a particular case. It is vital to keep abreast of all diagnostic and molecular technological developments within the field of genetics and health as this is a fast moving field of medicine.

Opportunities for flexible working

A significant proportion of the trainees in genetics are training less than full time. The local opportunities within a centre are dependent on the approval and funding opportunities provided by the local deanery. This level of flexible working is also reflected in the trained specialist workforce.

Opportunities for research and teaching

There are demands for research in clinical, as well as scientific aspects, of the specialty. Academic teaching departments are part of the genetics centres within teaching hospitals. Clinical geneticists spend a significant amount of time teaching professional colleagues, healthcare students and the public about the genetic contribution to health and disease.

Opportunities other than consultant-level work

There are research and development opportunities both in the clinical and laboratory aspects of the specialty. Academic departments within genetic centres are active in pushing forward scientific and clinical knowledge.

What it is like to work in this field?

One current clinical geneticist says: "I became a clinical geneticist because I had an interest and fascination for the rare syndromic disorders seen in paediatrics and adult medicine."