Genetic counselling helps manage lifelong disorders

Four centres in Bengaluru provide information about genetic disorders, and are helping people manage them.

There is no word for ‘gene’ in most Indian languages, explains Dr Meenakshi Bhat, geneticist at the Centre for Human Genetics (CHG), the only one of its kind in Bengaluru.

Located in Electronic City the centre is run by 13 research and teaching faculty and a support staff of over 30 people.

It is primarily a research center that works with universities in the city to provide degrees in genetics.

About 7,000 genetic disorders exist, and the occurrence ranges from one in 1,000 to one in three million.

Twenty-five centres in India do genetic testing and management, and Bengaluru is lucky to have four, says Dr Meenakshi.

“To put it simply, genetic counselling helps bridge this gap in communication and helps individuals and families understand and manage genetic disorders,’’ she explains. 

Krishnendu Menon, a master’s student at the Centre for Human Genetics, says intra-familial and intra-community marriages are common in India, and that makes the chances of a recessive gene exhibiting higher.

Which makes such centres an important part of public health care. 

A majority of genetic disorders can’t be cured and counselling helps individuals and families understand the diagnostics and manage it. This can sometimes be a lifelong process.

Dr Gautham Arunachal, assistant professor in the department of human genetics at Nimhans, says, “Over 150 disorders have some form of treatment which can substantially improve the quality of life. Further the counselling process also helps guiding families on how and where to avail these treatments,” 

Couples who have an affected child and wish to have more pregnancies, genetic testing of the child will help in providing accurate pre-pregnancy counselling and prenatal genetic diagnosis. 

Prenatal genetic diagnosis is a process which looks at whether the unborn fetus is afflicted with a genetic disorder or not.

Counsellors can help such couples plan their future accordingly. This service is also extended to women who are already in early pregnancy, preferably within the first few weeks of gestation,” says Dr Arunachal.

Over the years the identification and management of these disorders has become easier but the cost of treatment remains high.

“A basic genetic test costs around Rs 3,000 and can go up to Rs 30,000,” says Dr Meenakshi.

Genetic counselling can help patients understand the pros and cons of each test and gives them enough insight so they can make informed choices.

“We are able to provide our services at subsidised prices or even free as we have labs and some support from the government, and because of this, almost 80 per cent of our patients are those who can’t afford treatment elsewhere,” says Dr Meenakshi.

Dr Arunachal says that the costs of these tests have gone down in recent years, “Compared to the repeated tests required for other chronic illnesses and the cumulative cost, a one time genetic test isn’t expensive,” he says.

He goes on to say places like Nimhans and Centre for Human Genetics are supported by the government and that allows them to charge nominal fees of Rs 10-20 for counselling.

“At the end of the day, genetic counselling is done keeping in mind psychological principles of counselling. Each family you talk to responds differently and you must be able to deal with it in a tailor-made fashion. The goal is to help them understand and manage a possible or existing genetic disorder effectively, as not every healthcare provider has the information regarding such rare disorders” says Dr Arunachal.

Counselling process

Genetic counselling takes place in three stages. As Dr Arunachal of Nimhans explains: “The process begins with a validation stage where a definitive genetic diagnosis provides validation to the clinical symptoms as real and removes several misconceptions related to the causality. This will also help in understanding the prognosis of the disorder, what to expect in terms of treatment and how the diagnosis would affect their lives. Finally, it helps in guiding accurate recurrence risk estimation of the genetic disorder in subsequent pregnancies in the family and providing prenatal diagnosis.” 

India’s problem

Genetic disorders are high in India because intra-family and intra-community marriages are common.

Who does it help?

Couples who plan children: They can find out if their children are at risk for any genetic disorder.

Pregnant women: Prenatal testing to see if the foetus is affected by a genetic disorder.

Individuals with genetic disorders and their families: they learn about how it will progress, and what they can do.

Patients looking for cures: A small number of disorders are curable. Counselling helps them go to the right doctors.

Where

NIMHANS, Hosur Road, 080 2699 5722
9am to 4:30 pm on Mondays, Tuesdays and Thursdays

Centre for Human Genetics, Electronic City, 080 2852 1832
10 am to 5 pm on Mondays, Tuesdays and Thursdays

10 common genetic disorders

Colour blindness - reduced ability to distinguish between certain colours.

Down Syndrome - causing developmental and intellectual delays.

Gaucher Disease - characterized by a missing protein

Cystic Fibrosis - damages the lungs and digestive system.

Turner Syndrome - the afflicted female is born with only one X chromosome

Neurofibromatosis - causes tumours to form in the brain, spinal cord and nerves.

Noonan Syndrome - prevents normal development in various parts of the body.

Thalassemia - blood disorder involving low amounts of an oxygen-carrying protein

DiGeorge Syndrome - caused by a defect in chromosome 22.

Duchenne Muscular Dystrophy - disorder of progressive muscular weakness