About Genetic Counseling

WHAT IS GENETIC COUNSELING?

Genetic counseling 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:

• Diagnostics
• Risk calculation and estimation
• Management and preventive measures.
• 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 an immense emotional impact on families. The education and counseling accompanying genetic testing is provided by genetic counselors in all developed countries as this is essential for the decision-making process regarding testing and dealing with test outcomes.

WHO REQUIRES GENETIC COUNSELING?

The traditional emphasis on providing information coupled with supportive counseling 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.
• Parents having one genetically abnormal child, or frequent abortions, generally want to know if the new pregnancy will give them a healthy child.
• Members of families where there have been more than one incidence of cancer will be curious in knowing their "status" with respect to the disease and learn of prophylactic measures.

THE CONTEMPORARY AREAS WHERE GENETIC ANALYSIS IS USEFUL ARE:

The traditional emphasis on providing information coupled with supportive counseling is primarily for -

1. Any Familial Disorder
2. Cancer genetics
3. Infertility, Artificial Reproduction Techniques and pre-implantation genetics
4. Neurogenetics and psychiatric genetics
5. Common adult disorders (e.g., cardiac diseases, diabetes, BP, asthma, etc)
6. Genetics in the primary care setting – birth defects and mental retardation
7. Research in infectious diseases – TB, HPV, etc
8. Industry, including commercial laboratories and pharmaceutical companies.

ROLE OF A GENETIC COUNSELOR

A genetic counselor must not only convey to individuals and their families information about diseases or problems they harbor but also the consequences of testing and the potential for therapeutic intervention.

He/She must enumerate the risks to other family members both in present and future generations.This is filled with uncertainty and raises difficult ethical, legal and social issues.

Genetic counselors play a key role in educating healthcare providers and assist in establishing standards of practice.

Trained genetic counselors liaise with healthcare professionals, diagnostic labs and patients.

They also communicate with policy makers, media and the public about new and emerging medical-genetic technologies and services.