Who need Genetic Counselling?



Genetic counselling is the procedure in which the client at risk of an inherited disorder are advised of the concerns and nature of the disorder, the likelihood of developing or transferring it, and the options open to them in management and family planning.



In genetic counselling, counsellor evaluates family history & medical records, ordering genetic tests, assess the results of investigation and helping parents to understand and reach decisions about future actions. Genetic test are done by analysing small samples of blood or body tissues. They determine whether person or partner carry genes for certain inherited disorders.

Genetic counselling helps people to comprehend the nature of genes, birth defects and medical conditions that run in families and how they affect family’s health. Genetic counselling provides rich information and support to affected persons who may be at risk for genetic disorders.

There are major grounds for getting genetic counselling. People may go to counsellor when they

-       Have a personal or family history of a genetic condition or birth defect.
-       Are pregnant or planning to be pregnant after age 35.
-       Already have a child with a genetic disorder or birth defect.
-       Have had two or more pregnancy losses or a baby who died.
-       Have had ultrasound or screening tests that suggest a possible problem.


People who have following disorder may seek genetic counselling:

-       People are grip in genetic disorders e.g. Cystic Fibrosis, Hemophilia, Down’s syndrome.
-       They have Birth defects such as Spina Bifida, Cleft Lip and Palate, Congenital heart disease, club foot.
-       People with Inherited Cancers such as Breast and Bowel Cancers may visit genetic counsellor.
-       People who have intellectual disability, hearing or visual disability, infertility or multiple miscarriages or infant deaths may contact genetic counsellor.
-       Genetic defects occurring frequently in special ethnic and rational groups e.g. Tay-Sac disease, Sickle cell Anemia,Thalassemia.

Key steps of genetic counselling:

For precise diagnosis of disorder, counsellor initially review the detail history of client.

Next step is to prepare pedigree chart. Pedigree must be developed through proper interrogation.  Pedigree is helpful in making a diagnosis of genetic disease. It also determine a person’s risk of developing a genetic disease. Pedigree include important medical information such as birth date, age of death, and cause of death, health problems and results of genetics test. It is also used to estimate the risk of relative face to develop a genetic disease or have a child with a genetic disease.

Estimation of risk is one of the significant aspect of genetic counselling. For estimation, counsellor needs to consider mode of inheritance, analysis of pedigree and results of various tests.

After completing all above information and analysis, further step is to communicate to consultant.

People need to seek genetic counselling before or during pregnancy. People who are at risk of genetic disorder must choose genetic counsellor cautiously. They must always go to trained counsellor who is a certified genetic counsellor. 
Professional counsellors are postgraduates health professionals with a graduate diploma or Master’s in genetic counselling. They have an experience in the field of medical genetics and counselling. They recognize family at risk, examines the problems present in the family, interpret information about the disorder, analyse inheritance patterns and, risk of re-occurrence & review available option with the family. Genetic counsellors also serves as educators and resource people for other health care professionals and for general public.

In final words, genetic counsellors deal with clients concern about the risk of an inherited disease or condition. These Counsellors are caretakers between genetic information and technology. The counsellor must be adroit in the principals and practice of psychosocial evaluation and intervention within which Genetic Counselling functions. Effective counselling enables the couples to take wise decision about future pregnancy. Counselling also aid affected individuals to gain knowledge about the disorder and cope up with medical condition.

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