A decade ago, the idea that genetic diseases existed was still a novel concept in Nepal’s medical community. Public awareness was nearly nonexistent, and even basic medical supplies like oral rehydration salts were hard to come by. “People used to mock my specialisation, even my friends,” recalls Dr Neelam Thakur. “They would say, ‘You talk about genetics in a country where even paracetamol is scarce.’”
Over the past ten years, Dr Thakur has faced numerous challenges in introducing genetic disease diagnostics in Nepal. Initially, simply explaining what genetic testing was proved difficult. But her dedication led to the establishment of high-profile genetic testing in the country.
In 2019, after years of advocacy, the government officially included blood-related genetic disorders in its healthcare responsibility. Additionally, Nepal legalised abortion in cases where prenatal genetic disorders were detected.
A decade ago, reaching Dr Thakur for consultation was nearly impossible. Today, however, hundreds of patients receive treatment at Bir Hospital annually. “Even if there are only a few hundred cases, the impact of genetic diseases should be assessed not by numbers but by their long-term consequences on society,” she explains.
The rise of genetic disorders in Nepal
Genetic conditions such as blood disorders, infertility, childhood developmental disorders, and hereditary cancers like breast and stomach cancer are on the rise in Nepal. While these diseases cannot be cured, they can be managed and prevented.
“Many families used to spend years—sometimes even a decade—visiting different hospitals, spending millions without a proper diagnosis,” Dr Thakur says. “Now, with Bir Hospital serving as Nepal’s national referral center for genetic diseases, doctors across the country can refer patients more easily.”
However, the challenges persist. Sickle cell anemia is increasingly affecting the Tharu community, and conditions like Down syndrome are becoming more prevalent in newborns. Dr Thakur emphasises that prevention is key, as genetic disorders have no cure.
Breaking barriers in genetic medicine
Dr Thakur’s journey into this field was not an easy one. She completed her MBBS at Kathmandu Medical College in 2009 and, in 2010, secured the NOMA Grant to study genetic disorders at the University of Oslo, Norway. At the time, clinical genetics was not a priority in Nepal, making it easier for her to obtain a scholarship.
“I always wanted to be a genetic engineer,” she says. “When that dream didn’t materialise, I shifted to clinical genetics.”
Returning to Nepal in 2012 after completing her MSc in Clinical Genetics, she encountered a discouraging environment at Bir Hospital. Many in the medical field ridiculed her specialisation, dismissing its relevance. Even senior doctors were skeptical about the significance of genetic medicine in Nepal.
Despite her expertise, she struggled for eight months to secure work at Bir Hospital. Many dismissed her efforts, questioning why she kept returning despite having no assigned role.
Unwilling to give up, she petitioned the Nepal Medical Council for a licensing exam, which took five years to materialise. Frustrated by the lack of opportunities at Bir Hospital, she decided to break her five-year contractual obligation and established a genetics clinic at a government hospital. This move finally prompted the National Academy of Medical Sciences (NAMS) to allocate her a small workspace at Bir.
Dr Thakur was well aware that genetic research and treatment in Nepal were still in their infancy. Even when she finally secured a position, the infrastructure was inadequate, and essential equipment was lacking. Diagnosing and treating patients remained a major challenge.
Yet, she persisted. After nearly a decade of relentless effort, she successfully established a genetic laboratory at Bir Hospital. However, the facility is still unable to conduct all necessary tests.
Her ultimate goal is to integrate genetic studies into Nepal’s medical education system. “If we make genetics a mandatory subject in medical curricula, it will help doctors identify and manage genetic diseases more effectively,” she argues.
Recognising her contributions, the government created Nepal’s first and only position for a genetic disease specialist at the ninth level. Although the single post is insufficient, it signals that the state is beginning to acknowledge the field’s importance.
Understanding genetic disorders
The human body contains millions of cells controlled by DNA (deoxyribonucleic acid). Half of our DNA comes from the mother and half from the father, carrying hereditary codes that determine everything from eye colour to heart function. When genetic mutations occur, they can cause lifelong medical conditions.
There are over 30,000 genes in the human body, and any disruption can result in genetic disorders. Conditions such as thalassemia, hemophilia, infertility, intellectual disabilities, and various cancers can all have genetic origins. Some disorders, like muscular dystrophy, cause muscle deterioration over time, significantly impacting quality of life.
Globally, over 8,000 rare diseases have been identified, with around 250 new disorders discovered each year. Nearly 85% of these are genetic. “Each genetic disorder requires specific diagnostic tests,” Dr Thakur explains.
In the Tharu community, the prevalence of sickle cell disease has risen from 4–5% to 13–14% in recent years. A 2017 study found that around 200,000 Tharu individuals are affected by the disease. If both parents carry the sickle cell trait, their child is highly likely to inherit the condition.
Similarly, 80% of recurrent miscarriages are linked to genetic factors. “Even women with normal physical health can experience repeated miscarriages due to genetic abnormalities,” Dr Thakur notes. Identifying these issues through advanced testing can help families plan for healthier pregnancies.
Genetic screening is also critical for families with a history of breast cancer, as early testing can help detect predispositions. Thalassemia, another hereditary disorder, affects red blood cell production. The lifetime cost of treating a child with thalassemia can exceed $1.1 million. “Even if only 100 children are born with thalassemia annually, the financial burden on the country is immense,” she warns.
Thanks to advancements in genetic testing, conditions such as Down syndrome and muscular dystrophy can now be detected as early as 12–13 weeks into pregnancy through non-invasive prenatal testing. “A decade ago, people laughed at the idea of prenatal genetic testing in Nepal,” Dr Thakur recalls. “Today, we conduct hundreds of such tests nationwide.”
The long road ahead
Despite her achievements, Dr Thakur continues to push for more progress. She has trained at Johns Hopkins University and is now a member of the World Health Organization’s expert group on genetic disorders.
“Most children born with genetic disorders have severe disabilities,” she says. “Some are born without eyes, others are unable to move their limbs, and many suffer from cognitive impairments. These children often have short lifespans and place an immense burden on families.”
In extreme cases, overwhelmed families have even considered euthanasia. “Genetic disorders don’t just affect the individual—they impact entire families,” Dr Thakur explains. Parents often have to leave their jobs, face social isolation, and even relocate due to societal stigma.
She frequently meets patients who have exhausted their financial resources before even receiving a diagnosis. “Some women spend $20,000–$25,000 on IVF treatments, only to later discover that they are genetically incapable of conceiving,” she shares.
A future rooted in research
In the next five years, Dr Thakur aims to strengthen genetic disease identification, promote bone marrow transplants, and advance gene therapy research in Nepal. She emphasises the need for long-term government policies, as the impact of genetic disorders may only become apparent after several generations.
With Bir Hospital now serving as the national referral center for genetic diseases, medical professionals across the country can refer patients more efficiently. Prenatal testing has also enabled early interventions.
However, Nepal still lacks comprehensive data and research on genetic diseases. Dr Thakur advocates for at least one clinical genetics consultant in each of the country’s seven provinces. “If we can conduct a nationwide genetic disease survey, it will be a major milestone,” she concludes.
