The new pre-marriage health check? Experts decode why more couples are opting for genetic compatibility testing

A young couple from Bengaluru, *Priyanka, 31, and *Karthik, 33, (names changed on request), were healthy, happy, and excited to begin a family. With no symptoms or known family history of any serious illness, they assumed there was little to worry about.

But during pre-conception testing at Nova IVF Fertility, doctors discovered that both partners were carriers of beta thalassemia, a genetic blood disorder that affects the body’s ability to produce haemoglobin. Carriers usually live completely normal lives and may never realise they carry the mutation. However, when both partners carry the same recessive gene mutation, there is a 25% chance that their child may inherit thalassemia major, the most severe form of the disease.

The couple conceived naturally, but prenatal diagnosis during the second trimester confirmed their worst fear: the foetus had thalassemia major, a condition that requires lifelong blood transfusions and careful medical management. After detailed medical consultations, the couple made the difficult decision to terminate the pregnancy - an experience that was physically and emotionally devastating for them.

Only afterwards did they choose assisted reproductive treatment combined with preimplantation genetic testing (PGT-M), a procedure that helps identify embryos carrying specific genetic disorders before implantation in the womb. Eventually, the couple welcomed healthy twins free from the condition.

This case reflects a growing shift in how couples are approaching reproductive health. Genetic compatibility testing, once considered relevant mainly for high-risk families, is increasingly becoming part of conversations around marriage, pregnancy planning, and fertility care.

To understand why more couples are opting for genetic compatibility testing today, what the process involves, and the concerns surrounding it, we spoke to Dr Keerthi Goverdhanam, Fertility Specialist at Nova IVF Fertility, AS Rao Nagar, Hyderabad.

What is genetic compatibility testing?

Genetic compatibility testing, also known as carrier screening or premarital genetic screening, is a medical test that checks whether two individuals carry inherited gene mutations that could be passed on to their children.

Dr Keerthi Goverdhanam explained that the test has nothing to do with emotional or personal compatibility between partners. Instead, it focuses entirely on reproductive health risks.

“Genetic compatibility testing basically looks at whether two people carry inherited gene changes that may increase the risk of certain genetic disorders in their offspring. Many people misunderstand the word ‘compatibility’ here. It is not assessing relationships or personalities. It is assessing the probability of a child inheriting a serious genetic condition,” she said.

Many inherited disorders are autosomal recessive conditions. This means that both parents may appear completely healthy but still carry one copy of a faulty gene. If both partners carry the same mutation, their child has a 25% chance of inheriting the disorder, a 50% chance of becoming a carrier, and a 25% chance of inheriting no mutation at all.

Conditions commonly screened during such tests include thalassemia, cystic fibrosis, spinal muscular atrophy, sickle cell anaemia, and several rare metabolic or neurological disorders.

The idea of premarital and pre-conception screening has gained attention globally over the last decade, particularly among couples planning pregnancies or undergoing IVF. In India too, awareness is gradually increasing, with fertility centres and genetic laboratories offering screening panels to couples before conception.

According to Dr Goverdhanam, the shift is being driven partly by increasing awareness and partly by changing attitudes towards preventive healthcare.

“Earlier, couples mostly approached doctors after repeated pregnancy losses or after a child was diagnosed with a disorder. Now, many are coming earlier because they want clarity before starting a family,” she noted.

Why more couples are choosing it

One of the biggest reasons couples are opting for genetic compatibility testing is to understand reproductive risks before pregnancy rather than during or after it.

Testing is especially recommended when there is a family history of inherited disorders, repeated miscarriages, unexplained infertility, or when couples belong to communities where certain genetic conditions are more common. It is also increasingly advised for couples undergoing IVF or assisted reproductive procedures.

Another major factor is the prevalence of consanguineous marriages - marriages between relatives such as cousins - in some communities. Such marriages increase the probability that both partners may carry the same recessive gene mutation inherited from common ancestors.

Research over the years has shown that premarital screening programmes can significantly reduce the burden of inherited diseases in communities with high rates of cousin marriages. A 2023 study published in Nature Genetics also reported strong public support for premarital genetic screening, particularly in regions where consanguineous marriages are common, because it helps lower the risk of genetic disorders in children.

Dr Goverdhanam explained that awareness among younger generations is changing rapidly.

“People today are far more aware about genetics, fertility preservation, IVF, and reproductive health than they were even ten years ago. Social media, online health platforms, and increased conversations around preventive medicine have all contributed to this awareness,” she said.

Educational institutions and healthcare campaigns have also played a role. A 2022 cross-sectional study examining attitudes toward premarital screening found that a large majority of respondents were aware of inherited diseases and believed screening could help reduce disease incidence. The study also reported generally positive attitudes towards premarital testing.

How testing helps couples make informed choices

For many couples, the biggest benefit of genetic compatibility testing lies in informed decision-making.

If both partners are identified as carriers of the same genetic disorder, they can explore multiple reproductive options depending on their personal, medical, financial, and ethical considerations.

These options may include IVF with preimplantation genetic testing (PGT-M), prenatal diagnostic testing during pregnancy, use of donor eggs or sperm, or adoption.

“The purpose of testing is not to create fear. It is to provide information early enough so couples have choices,” Dr Goverdhanam said.

She explained that early awareness can reduce emotional trauma later, especially in cases where serious genetic conditions are detected only after pregnancy has progressed.

“When couples discover these risks before conception, they have time to understand the condition properly, seek counselling, and consider the path that feels right for them. It often reduces panic and confusion during pregnancy,” she explained.

Some severe inherited disorders require lifelong medical treatment involving repeated hospital visits, blood transfusions, expensive medications, or intensive caregiving. In such cases, early screening can help families prepare emotionally and financially.

Widespread carrier screening could reduce the long-term healthcare burden associated with severe inherited diseases.

At the same time,  Dr Goverdhanam stressed that genetic counselling is a crucial part of the process. Testing alone cannot guide couples through the emotional and ethical complexities involved in reproductive decisions.

“Genetic counselling is extremely important because results can be emotionally overwhelming for some couples. They need proper explanation about what being a carrier actually means, what the risks are, and what options are available,” she added.

The social stigma and ethical concerns around testing

Despite increasing awareness, genetic compatibility testing remains a socially sensitive subject in India and several other countries.

One of the biggest concerns is stigma. Many people fear that being labelled a “carrier” could negatively affect marriage prospects or create discrimination within families and communities.

Importantly, carriers are not sick. A carrier simply possesses one copy of a gene mutation without showing symptoms of the disease.

“Being a carrier does not mean a person is unhealthy or incapable of having healthy children. Unfortunately, there is still misunderstanding and fear attached to genetic conditions,” Dr Goverdhanam said.

There are also broader ethical concerns regarding privacy, consent, and misuse of genetic information. Critics worry that increasing commercialisation of genetic screening might slowly push societies toward selecting “desirable” traits or encourage forms of modern eugenics through embryo selection technologies.

Globally, debates around so-called “designer babies” have intensified alongside advancements in reproductive genetics.

Dr Goverdhanam noted that the focus must remain on informed healthcare rather than social judgement.

“Testing should empower couples, not pressure them into rejecting relationships or pregnancies. The goal is awareness and preparedness, not discrimination,” she said.

Affordability is another major challenge. “In India, genetic compatibility tests can cost several thousand rupees and are usually not covered under standard insurance policies. Access to trained genetic counsellors also remains largely limited to urban centres and specialised fertility clinics. As a result, awareness and access continue to remain uneven across different socio-economic groups,” Dr Goverdhanam said. 

Prevention over cure

“Ultimately, genetic compatibility testing is not a verdict on relationships,” Dr Goverdhanam explained. “It is simply a way for couples to understand reproductive risks better and make informed decisions about the future they want to build together.”

This story is done in collaboration with First Check, which is the health journalism vertical of DataLEADS