A year ago, Soheila Jalali ordered a home DNA test to establish her genetic predisposition to more than 100 medical conditions, including cancers of different organs, diabetes, heart attack and stroke. About three weeks after couriering her mouth swab sample to a genetic testing laboratory in Hyderabad, the 25-year-old biotechnologist received a “long report” in her inbox.

This was one email Jalali was terrified to open.

The report had red flags against the names of several diseases. “The red flags meant that I had a higher risk of developing those conditions in my lifetime,” said Jalali. One of the conditions was eye cancer. “I can’t do anything now to prevent it but I can take regular eye check-ups to pick the cancer early,” she said.

The risks flagged off in Jalali’s report are what are called “relative risks”. Based on her genetic make up Jalali has a higher chance of developing eye cancer but this is in no way a prediction that she will actually get eye cancer.

Doctors say that apart from taking preventive health check ups and making healthy lifestyle choices, there is very little a person can do to reduce risks of developing a condition to which they are genetically predisposed.

Jalali had decided to assess her rsk of developing several medical conditions even though she did not know of any family member with a genetically-linked medical condition that she was afraid to inherit. “I can prepare myself,” she said but admitted that the information made her panic at several times.

Like Jalali, many people have become curious about their medical predispositions because of increased access to personal genomics. Doctors feel that while some clients may be able to process the information well, others might panic without undrstanding what risk of “a potential fatal disease” means.

The Angeline Jolie effect

Predictive genetic testing or pre-symptomatic genetic testing became extremely popular after Hollywood actor Angelina Jolie underwent a double mastectomy following a genetic test which showed that she had mutation in a gene known as BRCA1 that increased her risk of breast and ovarian cancer. Jolie’s mother had died of cancer and Jolie underwent the procedure to reduce her chances of developing the condition.

Jolie’s decision stirred an ethical debate on the need for screening to look for genetic mutations which are associated with an increased risk of developing both chronic and life threatening medical conditions.

Doctors could recommend to a patient like Jolie, who has a strong history of cancer running in the family to take the test, but they are divided if people like Jalali with no history of genetically linked diseases need it. Many doctors feel that not everything a genetic test reveals about a person’s risk of developing a disease is “useful information.”

A genetic test is prognostic and not diagnostic in nature, said doctors. A diagnostic test will tell you whether the person taking the test has the disease that the doctor suspects on the basis of the symptoms the patient complains of. For instance, a diagnostic test will tell if the patient has high blood glucose level but a genetic test will look for the mutation in the gene responsible for increasing the person’s risk of developing diabetes.

Consumer direct testing companies mushrooming in India offer several predictive genetic tests that clients, not patients, can buy online. The company sends a testing kit to the client who couriers the DNA samples back. The client may prick his finger and send a dry blood sample or a cheek swab to the laboratory. “We extract the DNA from the sample and amplify it to look for mutations in the gene and biological markers to check the person’s risk of developing certain diseases,” said Anu Acharya, chief executive officer of Mapmygenome, a genetic testing laboratory.

Home DNA test kit. (Photo: Mapmygenome)

It is well established that a mutation in BRCA1 gene increases risk of breast and ovarian cancer, but as medical genetics is evolving with doctors still identifying new genes and mutations which can be associated with the increase risk of developing breast and ovarian cancer and other diseases.

“You should know what you are looking for,” said Dr Jaya Vyas, consultant for genetic and molecular biology at Kokilaben Dhirubhai Ambani Hospital in Mumbai. “You can’t really know all the genes under the sun.”

Vyas and her team do not offer predictive testing at the moment. “It (predictive testing) is not very clear at this stage,” she said.

Lack of Indian data

Another problem with predicting disease risk using genetic information in India is the lack of data. Acharya admitted that there is not enough data to predict several diseases. “Right now we have good Indian data for predicting diabetes and heart conditions,” she said.

Apart from looking for specific mutation in genes, doctors also look for structural changes in the gene, which Acharya explained are biological markers. “Indians with diabetes have some specific biological markers. So when we test a client who shows the presence of the same biological marker, we can conclude that he is at the risk of having diabetes at a later stage.”

In the absence of such data on genetic mutations and biological markers specific to the Indian population, laboratories rely on data generated by gene tests run among Caucasian population for instance, which many not be relevant or reliable. There are normal variations across ethnicity which will have to be taken into account, said Dr Girisha KM, professor and head of department of medical genetics at Kasturba Medical College, Manipal University.

The biggest concern for Joshua M Sharfstein, associate dean of public health practice and training at the Johns Hopkins Bloomberg School of Public Health in the US, is whether the data is accurate. “There are many unvalidated tests being offered to consumers,” he told Scroll.in in an email. “Tests that are invalid do not provide useful information.”

For Jalali that hardly matters. “Just because some doctors don’t understand how to interpret the data my test reveals, I cannot stop myself from getting the test,” she said. Jalali thinks that with each passing year, the science will progress in India and her report will help her to get the right treatment. “It might help my doctor to diagnose my condition faster because he knows that I am genetically prone to it.”

Hope versus hype

A genetic test, like the ones Mapmygenome offers, costs between Rs 4,000 for a single gene test and Rs 1.2 lakh for a more comprehensive genetic analysis comprising more than 100 gigabytes of genetic data. “There is too much information available,” warned Vyas. “You have to be cautious and sensitive and ready to accept it. I personally feel it is dangerous.”

However, the number of people taking these tests is only rising. “We are doing 15 times more tests that what we performed in 2014 when we started,” said Samarth Jain, chief executive officer of Positive Bioscience, a genetic testing laboratory in Mumbai.

Some families are ordering tests for minor children too. Chennai resident Vedant Raj Lohia, 19, and nine members from his family took the predictive genetic test. Lohia was worried about male pattern baldness, a pattern of receding hairline and a thinning crown that is caused by hormonal effects and might be genetically triggered.

“I know it is petty but I wanted to know,” said Lohia. “Fortunately, I don’t have it.” Even if Lohia had the possibility of developing baldness, there is very little he could do to prevent it.

“I just wanted to know. It is a relief,” he asserted.

Vedanta Raj Lohia, 19, who underwent genetic testing with nine other family members.

Pranav Aman, a geneticist from New Castle University in the United Kingdom who runs a genetic testing laboratory called GeneBox, recalled 19 members of a family in Bangalore who took the test. “The youngest was a three-year-old,” he said. Apart from predicting the risk of diseases, Aman’s laboratory offers information “on the kind of exercise, sport a person can play depending on the genes they have.” Reports generated by Aman’s laboratory tells clients the kind of workout which will help them to “lose wight”.

“Some people can’t lose weight despite all the exercising because their genes are now allowing them,” he said. “People need to eat and exercise according to their genes.”

Apart from disease risk prediction, some DNA home tests provide information on the body’s responses to commonly used drugs. Vyas’s team runs test genetic test for cancer patients to find out what drug will work best for them depending on their genetic makeup. “This is helping cancer patients,” said Vyas. “If we know that the patient’s genes won’t allow the drug to work, we can put them on an alternate drug instead of wasting precious time.”

The tests Vyas’ lab runs are meant only for patients and are not sold to people who have not been been diagnised with disease. “They are only performed if the treating doctor prescribes it,” said Vyas.

But even Jalali’s home DNA test told her about her body’s response to 11 commonly used drugs to manage symptoms arising out of diabetes and cardiac conditions.

Understanding the data

As customers buy the tests online, they also receive the test result over email as Jalali did. There is an option where they can “discuss their report with a genetic counselor from the laboratory”. These reports could have life-altering consequences, said Vyas who believes that anyone taking a test should be given both pre and post-test counseling.

A study published in international medical journal PLOS said that doctors “did not observe short-term changes in behavior associated with the communication of an estimate of genetic or phenotypic risk of type 2 diabetes.”

“You may not be able to cope with what the test tells you,” said Girisha, who says personal genomics testing is often miss-selling of modern scientific advances.

Like Girisha, many doctors feel genetic tests should be performed only if a doctor prescribes them and for “medically actionable diseases”, which means the person can do something actively to reduce his risk of developing them. If a person finds out that he has an “elevated risk” of developing cardiovascular disease, he can adopt to healthy eating and exercising to reduce the risk. However, when Girisha counsels patients who look at genetic testing as “scientific astrology” he encourages them to have a healthy lifestyle irrespective of their gene tests. “You don’t need to get a gene test to start exercising,” he said.

Risk of genetic discrimination

Acknowledging the possibility of discrimination, the United States passed the Genetic Information Nondiscrimination Act in 2008 to protect Americans against any discrimination based on their genetic information when it comes to health insurance and employment.

Genetic testing laboratories in India are not governed by any specific legislation. They require the same set of permissions that a diagnostic laboratory performing blood glucose tests does.

Doctors in India are worried about the “social implications” for those who have high risk of developing life-threatening conditions. A doctor working as a general practitioner in Mumbai who did not want to be identified said that there was always the chance of such genetic tests being used against a person by his employer and insurer. “The business is too unregulated at the moment,” he said.

The Indian Council of Medical Research, apex body for regulating clinical research in India has not developed any guidelines to regulate genetic testing laboratories. “Personal genomics is at a very underdeveloped stage and companies are exploiting people by offering it,” said Dr Soumya Swaminathan, director general of Indian Council of Medical Research.

Barring certain conditions, Swaminathan said that there is no “real prediction these genetic tests can do”. She said that most diseases are multifactorial and multi-genetic in nature. “There are several genes responsible for developing Schizophrenia (a mental disorder),” she said.

Currently very few institutes in India have a courses on medical genetics. Most geneticists operating in India have foreign degrees. The Indian government has no system to recognise these foreign degrees.

It is not just regulation but the quality of results and interpretation that has also got doctors worried. As Girisha argues in favor of a qualified person to be performing and interpreting the test results in well informed individuals”.He explained with an analogy, “A four wheel vehicle can be a car or a tempo and that is why you need a qualified person to be performing and interpreting the test results”.