Genetic counselling and testing should be given a serious push in the country

12:32 pm Health Care, Heart Care Foundation of India, Medicine

This practice can help save many children from dying and prevent birth defects

New Delhi, 16 July 2018: Hundreds of children are born with birth defects every day in India, which lead to disability and death. Genetic disorders are a very serious health issue in our country. There is an urgent need to work towards making available informed choices to parents to reduce the number of children being born with disability.

In genetic counselling, unlike psychological counselling, parents and their families are informed about inheritance pattern and the risk of their recurrence. It guides the parents through testing and management options. Genetic counsellors not only offer support and guidance to parents but also become a bridge between the patient and the doctor.

Speaking about this, Padma Shri Awardee, Dr K K Aggarwal, President, HCFI, said, “A genetic testing is a must in cases where: either partner has a hereditary disorder, there is a history of genetic disorder in the family, a history of multiple pregnancy losses, or there are congenital anomalies detected in children. Many women are opting for delayed pregnancies and lifestyles, and with the prevalence of consanguinity in certain parts of the country, there is an elevated risk of children being born with genetic disorders in India. India is country where matching horoscopes before marriage is accorded a lot of importance. However, it is time that pre-nuptial genetic screening or testing and counselling is also made mandatory as it will help avert many issues later during pregnancy and childbirth.”

As per data from Unicef-India, every year about 1.34 million children die under five years and, of these, approximately 10% are believed to be due to congenital malformations. Among those born with congenital malformations, more than half are due to defects in single genes while >10% are because of chromosomal abnormalities.

Adding further, Dr Aggarwal, who is also the Group Editor of IJCP, said, “Prenatal Genetic Testing, which is primarily non-invasive, helps in identifying three types of trisomies: Trisomy 21 is the anomaly behind Down’s Syndrome; Trisomy 13, which leads to Patau Syndrome; and Trisomy 18, which causes Edward Syndrome. With the alarming number of children being born with genetic abnormalities, it is about time that India embraces NGS routine genetic testing. It is a comprehensive test and can detect all types of genetic mutations and is accurate, fast and cost-effective at the same time.”

Some tips from HCFI

  • Be aware of the products you use in your home and on your skin.  For example, cleaning products with harsh chemicals.
  • Eat healthy and include lots of fresh fruits and vegetables in your diet. They contain fibre and substances that can help in flushing toxins out of your system.
  • Take steps to combat stress as this lowers your immune system function.  Exercise, sleep well, and meditate. You can also opt for yoga to get rid of stress.
  • Sleep well as it reduces cortisol produced by the body during stress.  It also balances leptin, which determines how much food we eat.  If our leptin is off balance, most likely the body will feel that it never gets enough food, which leads to overeating.
  • Reduce or quit smoking and drinking.

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