Genetic Counselling

Genetic Counselling is a communicative session between the counsellor and the patient, to discuss the presence and impact of genetic disorders in the patient’s family, based on the results of a few genetic tests. A genetic counsellor guides the patient in interpreting the results of various genetic tests so as to make them be at a better position to take a proper decision pertaining to their future. Genetic counselling helps present the risk of an individual or a family for a genetic disorder, discusses the possible treatments and paints a picture of further future directions.

What are genetic disorders?

Genetic disorders result from mutations in one’s genome. These mutations arise in single genes or chromosomes and can result in serious conditions. Some of the common genetic disorders in the Indian population include Haemophilia, Duchenne Muscular dystrophy etc. However, it is important to note that there are a few disorders whose genetic basis might be difficult to assess as well, such as Autism. Hence it is always recommended to visit a genetic counsellor who can identify and present the risks involved.

When should you consider a genetic counselling session?

Ideally couples should visit a genetic counsellor while planning to have a child or during the 1st trimester of pregnancy. Couples with family history of diseases or psychological disabilities who might want to know their hereditary nature and understand if their child would be at risk can consult. Some of the most common diseases that can be hereditary include diabetes, cancer, hearing/vision loss, Down’s syndrome, skeletal dysplasia, sickle cell disorder etc. Being part of communities with a greater number of individuals affected with genetic disorders can also be a factor of risk. Apart from these if you belong to one or more criteria listed below, you should consider consulting a genetic counsellor:

• Pregnant women who are reaching advanced maternal age (35 years and above)
• Women who have experienced miscarriages
• Couples who have lost their children at an early age due to defects
• Individuals who want premarital counselling
• Individuals who have married their close relatives [ consanguineous marriage]
• Individuals who have an abnormal test report for e.g., an ultrasound or biochemical tests

Contributions of a genetic counsellor:

• Comprehends the facts (validates diagnosis)
• Presents risk involved of a specific disorder and the implications of occurrence in specified relatives
• Proposes options to deal with the risks [ e.g., - abortion, surgery]
• Suggests a possible plan of action (possible treatment)

Factors to consider while choosing a genetic counsellor

While choosing a genetic counsellor it is important to consider two C’s: Communication and confidentiality.

Communication

One should feel comfortable to share and be reassured after a conversation with the counsellor. After the diagnosis is done by the counsellor, he/she will suggest and list possible options to you. The severity of the disease or the disorder will always be conveyed to the family in isolation.

A counsellor will explain to you the results of the diagnosis and the treatment options thereafter.

Confidentiality

Confidentiality is another important factor. Any information being shared by you and any information given by the counsellor is not meant to be disclosed in any circumstances. Information of traumatic nature will not be referred to in isolation in an appropriate manner. Hence it is important for the counsellor to always have you bring your family and closed ones for such kinds of conversations. Any information that can have a chance to cause any distress to you would be discussed confidentially. The different approaches and strategies for your future will be discussed.