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.
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