Clinical genetics is a diagnostic and counselling service for
individuals and families concerned about the suspected or confirmed
diagnosis of a genetic disorder. There are a number of reasons why
people ask to be referred to the genetics service, or why their
doctor thinks that they should be referred. These include:
- People with a genetic condition (either themselves or in their
family), who wish to know about the risks to themselves and their
children.
- People with a family history of cancer who wish to know the
risks to themselves and want to find out about their options.
- Couples who have had a pregnancy loss due to a genetic
condition, or who have a child with a genetic condition, who wish
to know the chance of it happening again.
- A child with problems such as learning difficulties or
congenital anomalies (e.g. heart defects) that may have a genetic
basis. If a child has lots of problems, a geneticist may
be asked if there is one genetic diagnosis that may explain
all these problems.
- People with an abnormal result from a genetic test (e.g.
chromosome analysis) that was organised by a hospital specialist,
obstetrician or GP and which needs further explanation by an
expert.
- A child with a biochemical (ie, metabolic) disorder that may be
genetic. In such cases, information or management may be provided
by a multidisciplinary team including doctors and dieticians.
The genetics service covers the majority of the north-west
region (a population of around 4½ million) and patients may be some
distance from Manchester. We therefore run clinics in a number of
district hospitals as well as at St. Mary's, although it may be
necessary to come to Manchester if more specialist diagnostic
facilities or combined consultations are necessary.
Before the clinic consultation, families may be contacted by one
of our team of genetic counsellors. The counsellor will answer any
questions the family has about the referral, establish details of
the family history and find out what the major concerns of the
family are.