What are Regional Genetics Services?
Specialist genetic services have developed in the UK largely as
regional centres of expertise. All support the network
of Regional Genetics Centres and the need for close
functional interaction between centres and between elements of the
service within an individual centre. Specialist genetic services
can be distinguished from other medical services by the fact that
they deal with families, often over several generations, and that
they can provide genetic expertise for any age group affected by,
or at risk of, disorders in any body system.
The clinical team includes Clinical Geneticists (medical
doctors who increasingly may have subspecialty
expertise), junior doctors in training, Genetic
Counsellors (sometimes referred to as specialist genetic
nurses, genetic associates or genetic co-workers) and, in some
centres, genetic family register staff. Services are delivered
in clinics in the regional centre, in outreach clinics in
district general hospitals, in ward or hospital department
consultations and in visits to the families' homes.
Following referral to a consultant, a genetic counsellor may
make contact with the family to collect background information and
in some circumstances will also provide "genetic counselling" at
the hospital or in the home. For most patients, a clinic
appointment with a clinical geneticist is then organised (and any
follow up appointments as necessary) to allow examination,
investigations, diagnosis and further management. A detailed
summary letter is sent to the family and to hospital and primary
care doctors. In some situations the genetic counsellor maintains
long-term contact with the family. Services are offered to the
extended family as necessary.
I've been referred to a Genetics clinic; what can I expect?
Most people's appointments will have been made by a doctor who
felt that particular questions needed answering, which required the
expertise of a Clinical Geneticist - a medical doctor who
specialises in Genetics. Typical reasons for being seen
- A person with a genetic condition in the family wanting to know
the risks to themselves or their children
- A person worried about a family history of cancer, who wants to
know whether or not they are at increased risk, and to discuss
- Parents of a child with medical or learning difficulties where
a genetic condition may be present, wanting an expert
In some cases, a specially trained person who is not a doctor
(called a Genetic Counsellor, Genetic Associate, or Genetic
Nurse) may see you before your appointment with the doctor.
Most Genetics appointments are 45 to 60 minutes long, so you
should not feel rushed. Several relatives may attend an appointment
together, if they wish. The details of your appointment will vary
depending on the exact reason for which you are being seen. The
following often occur:
- The problem that has brought you to the clinic will be
discussed in detail
- A family tree may be drawn, and medical details of relatives
may be asked about (such as the cause and age of their death). It
is useful to have found out these details before you come to the
clinic, or bring a relative who will know
- A medical examination may be carried out on one or several
- Photographs may be taken to document certain features for the
- The doctor will explain their findings to you, and discuss all
- You will be encouraged to ask questions, and to make your own
decisions. The doctor will help you with this, but will not tell
you what to decide
- In some situations, tests (such as blood tests) may be offered.
Some tests are available on the day, but often you will be asked to
take some time to make a decision, and come back another day.
Results often take several months to come back.
At the end of the appointment a plan may be made for further
information gathering (by you or the doctor), special tests, or
another appointment. Afterwards you will be sent a letter going
over what was discussed in the appointment. If anything in this is
unclear, you should contact the clinic again.