Careers in Clinical Genetics
Nature of the
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
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.
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
There are no associated sub specialties of clinical genetics.
However, clinical geneticists work closely with obstetricians,
paediatricians, neurologists, cardiologists, oncologists and cancer
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.
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.
people work in the same team?
Clinical geneticists work alongside genetic counsellors,
molecular and cytogenetic laboratory staff and academic
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
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
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
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.
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.
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.
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."