What Can the Regional Clinical
Genetics Service Offer?
Individuals and families are becoming increasingly aware of the genetic contribution
to disease. Many wish to have information so that they can seek to prevent complications in someone
who is already affected or to reduce the risk of recurrence within the family.
We aim to meet this need by providing diagnosis, information, risk estimation, genetic counselling, management and support to individual patients and families with genetic disorders, through a family based diagnostic approach and specialised counselling skills.
Our
Service
We
offer a comprehensive regional service:
a) Diagnosis
i)
Clinical diagnosis
of genetic conditions including the diagnosis of malformation syndromes in children who have multiple
malformations or dysmorphic features (a significant proportion may have a genetic cause).
ii) Presymptomatic diagnosis of single gene disorders by using DNA technology. This may allow surveillance for life-threatening complications, for instance in familial adenomatous polyposis coli or Von Hippel-Lindau disease.
iii) Information about prenatal diagnosis. A couple may not be willing to embark on further pregnancies unless prenatal diagnosis is available
b)
Genetic Counselling
The role of clinical geneticists is to establish an accurate
diagnosis on which
to base counselling and then to provide information about prognosis and follow up, the risk of developing
or transmitting the disorder, and the ways in which this may be prevented or ameliorated. The family
may require support in adjusting to the implications of genetic disease and the consequent decisions
that have to be made. Genetic counselling, therefore, is not just giving recurrence risks!
c)
Support
Specialist genetic counsellors assist in the care of the families, as
well as providing ongoing
support whilst the families are receiving genetic counselling. Some districts have employed a genetic
counsellor to provide local support.
d) Region
Wide
Clinics We offer outpatient
medical consultations in genetic clinics in hospitals throughout the region.
e)
Liaison
The service has excellent links with the prenatal diagnosis services and
department of fetal
medicine at the Birmingham Women's Hospital, and all the other regional genetic laboratory services.
Research
The Regional Clinical
Service works closely with the University Department of Clinical Genetics and the genetic laboratories
in the Regional Genetic Services. One of its special interests is the mapping of disease genes (being
involved in the mapping of the genes for Marfan syndrome and nevoid basal cell carcinoma syndrome).
Teaching
All members of the
Unit are actively involved in the teaching of professional staff and students. Our Centre
for Education in Medical Genetics develops and runs courses for different groups of health
care
professionals and conducts research into genetics education and training.
Our
Staff
Our staff (of over 40) includes consultants and medical practitioners
specially trained in genetics, specialist registrars, genetic counsellors, an education team and supporting
administrative and clerical staff to provide a complete diagnostic service.
In order to provide a district based service, staff are responsible for different segments of the region. The consultant responsible for each district is shown in the table in the "How to Refer" section.
The Quality of
our Service
We
hold regular audit meetings to monitor the quality of our service. We regularly assess the accuracy
of diagnoses and information given to families, the length of time from receiving the referral to first
contact with the family, the quality of letters written to families and colleagues, and other measures.
This page was last modified on Fri Feb 12 2010
