Genetic counselling is the process by which patients, families and clinicians are informed about the inheritance pattern, genetic and genomic basis of traits and clinical disorders.
It covers four main aspects:
1. Diagnostics
2. Risk calculation and estimation
3. Management and preventive measures.
4. Support
WHY IS IT ESSENTIAL?
The advent of genetic tests has had a tremendous effect on clinical diagnosis. Diseases, which were difficult to diagnose earlier, are now aided by genetic screening tests. These tests are new and not very well known among clinicians. More importantly, the implications of the results must be explained to the patient and relatives in a professional manner, since most of the times, the results have tremendous emotional impact on families and also have important implications for subsequent generations. The education and counselling accompanying genetic testing is provided by genetic counsellors in all developed countries, as this is essential for the decision-making process regarding testing and dealing with test outcomes.
WHO REQUIRES GENETIC COUNSELLING?
The traditional emphasis on providing information coupled with supportive counselling is primarily for people wanting to know whether the disease is hereditary, whether other family members are susceptible and also to know if a therapeutic treatment option is right for them.
For example:
- Parents having one genetically abnormal child, or frequent abortions, generally want to know if their subsequent pregnancies will give them a healthy child.
- Members of families where there have been more than one incidence of cancer will be curious to know their “status” with respect to the disease and learn about prophylactic measures.
- Individuals on long term therapy for epilepsy, organ transplantation, diabetes and hypertension would like to know if the medicines they are using are suitable for them.
Apart from the above mentioned, genetic counsellors also play an important role in:
- Any Familial Disorder
- Cancer genetics – diagnosis, prognosis and management
- Infertility, Artificial Reproduction Techniques and pre-implantation genetics
- Neurogenetics and psychiatry
- Musculo-skeletal disorders
- Common adult disorders (e.g., cardiac diseases, diabetes, BP, asthma, etc)
- Genetics in the primary care setting – birth defects and mental retardation
- Infectious diseases – TB, HPV, etc
- Advocacy groups
- Public health policies