GENETIC COUNSELLING
Genetic counselling is the process of providing information about the medical and family implications of a specific disease in a clear and non-directive manner. Such counselling aims to help individuals make informed decisions about planning a family, taking part in screening programmes and accepting prophylactic therapies. Genetic counselling may be provided by a medical geneticist, a specialist nurse, or a clinician with particular skills in this area, such as an obstetrician or paediatrician. Perception of genetic risks clearly depends on perceived hazard. For example, a 5% (or 1:20) risk of genetic disease may be perceived as low if the disease is treatable, but unacceptably high if not.
Clinical genetics services
| Component | Role |
| Medical geneticist | Diagnosis and management of genetic disease, assessment of genetic risk, managing screening programmes, interpretation of genetic test results. Subspecialties include prenatal genetics, dysmorphology (syndrome identification), cancer genetics |
| Genetic counsellor | Assessing genetic risk, provision of genetic counselling (providing accurate risk information in a comprehensible format), predictive testing for genetic disease and provision of information and support |
| DNA diagnostic laboratory | Identifying and reporting disease-causing mutations in validated disease genes. Some laboratories also provide linkage analysis to track diseases in families. Laboratories often work in a consortium, as so many different disease genes have now been identified |
| Cytogenetics laboratory | Identifying pathogenic numerical and structural chromosome anomalies in prenatal, postnatal and oncology samples |
| Biochemical genetics laboratory | Metabolite and enzymatic-based diagnosis of IEM. Metabolite-based monitoring of treatment of IEM |
| Newborn screening laboratory | Provision of population-based newborn screening, e.g. PKU, cystic fibrosis, etc. |
(IEM = inborn errors of metabolism; PKU = phenylketonuria)
source=http://akramania.byethost11.com/Davidson/hc003072.htm
