What Is Genetic Counselling - And Why India Needs Far More of It

The Scale of India's Genetic Disease Burden

The common perception is that genetic disorders are rare and isolated cases; however, genetics influences a much broader spectrum of health and disease than most people recognise. The Indian data tells a very different story. India carries one of the highest genetic disease burdens in the world. Our population of 1.4 billion is stratified into over 4,600 distinct population groups, thousands of which are endogamous — communities where marriage within the group is the norm across generations. This creates a pattern of concentrated, inherited mutations that recur silently across families, often undetected until a child is born severely affected.

The numbers are sobering. Approximately 21,400 children are born with Down syndrome every year in India. Around 12,000–15,000 births result in beta-thalassemia major annually — roughly 10% of the global total — with an estimated 45 million carriers across the country. Over 100,000 patients live with beta-thalassemia syndrome and another 150,000 with sickle cell disease, most of them inadequately managed.

But the burden does not stop at the conditions most people know by name. India is estimated to have approximately 70 million people affected by rare genetic diseases — a figure from the Foundation for Research on Rare Diseases and Disorders that puts the scale into perspective. There are roughly 7,500 known rare disorders globally. A 2024 study in the Orphanet Journal of Rare Diseases, drawing on 22 years of data from a tertiary genetics centre in India, identified 305 distinct rare diseases in a single cohort. The most common categories were neuromuscular and neurodevelopmental disorders — including Duchenne muscular dystrophy, spinal muscular atrophy, and trinucleotide repeat expansion diseases — followed by inborn errors of metabolism such as Gaucher disease, lysosomal storage disorders, and amino acid metabolism conditions.

As per the statement of the Indian Society of Human Genetics, for 95% of rare genetic diseases in India, no approved treatment exists. Which means that for the vast majority of these 70 million people, the intervention that matters most is not a drug — it is knowledge, timely diagnosis, an understanding of recurrence risk, guidance on reproductive choices, disease management, and what to watch for in other family members.

What is Genetic Counselling?

Over the years, as a practicing genetic counsellor I have sat with families who waited years, sometimes a decade for a diagnosis. Families who visited specialist after specialist, watched their child's condition progress, and were handed report after report that no one helped them read. What was missing was rarely the test. It was the conversation around it. This is the gap which is well bridged through Genetic Counselling.

Genetic counselling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. It sits at the intersection of medical science and human communication — a discipline that requires not just deep knowledge of genomics, but the skills to translate that knowledge into decisions that families can actually make and live with.

This process integrates the following:

• Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
• Education about inheritance, testing, management, prevention, resources and research
• Counseling to promote informed choices and adaptation to the risk or condition

The Growing Scope

The scope of the discipline is wide and growing. It includes prenatal genetics (chromosomal anomalies, structural defects, carrier screening), paediatric and rare disease genetics, hereditary cancer syndromes, cardiovascular and neurological genetics, and pharmacogenomics — the use of a patient's genetic profile to personalise drug therapy. As genomic medicine moves from the research lab into routine clinical practice, genetic counselling touches nearly every specialty in medicine.

India's genomics infrastructure is growing. Next-generation sequencing is increasingly affordable. Genetic panels are being ordered across oncology, neurology, paediatrics, and maternal-foetal medicine. The tests exist. The results are coming back. What is critically missing is the workforce to interpret them.

The Workforce Crisis

The Board of Genetic Counseling India (BGC-I) is the national body that oversees the education, training, and certification of genetic counselors. In 2024, the Healthcare Sector Skill Council under the National Skill Development Corporation (NSDC) formally recognised genetic counselling as a profession in India under the National Skills Qualification Framework — a milestone that reflects the profession's growing legitimacy.

Yet the workforce numbers remain stark. The total number of BGC-I certified genetic counsellors in India sits in the low hundreds. Fewer than 100 new counsellors complete certification each year through the existing pipeline. A 2018 global survey found that across all of Asia, there were just 350 certified genetic counsellors. A 2024 paper in Nature Medicine estimated that the world needs approximately 400,000 genetic counsellors to adequately manage rare diseases alone.

The gap between what exists and what is needed is not incremental. It is generational in scale.

The consequence is visible every day in clinical practice: genomic test results that go uninterpreted for months. Rare disease diagnoses that arrive after years of unnecessary investigations — a journey sometimes called the "diagnostic odyssey".

The Education Gap Is Just as Critical

Addressing India's genetic counselling deficit requires two things working in parallel: more trained genetic counsellors, and a broader workforce of clinicians who understand genetics well enough to know when to refer, what to order, and how to communicate findings.

Medicine is moving towards genomic precision. Oncologists are reading tumour mutational burden reports. Cardiologists are encountering hereditary arrhythmia syndromes. Neonatologists are ordering whole exome sequencing in the NICU. Psychiatrists are beginning to use pharmacogenomic data to guide prescribing. In every one of these specialties, the clinician's ability to act on genetic information is now part of their clinical competency — yet genetics education in most Indian medical curricula remains superficial.

Building India's genomic medicine capacity, therefore, is not only about producing more genetic counsellors. It is about ensuring that physicians across departments — and the allied health professionals who work alongside them — have a functional, working knowledge of genetics. Not enough to replace a specialist, but enough to recognise a hereditary pattern, communicate findings responsibly, and collaborate effectively with genetics teams. This is not a distant vision, it is where global healthcare is already headed, and India needs to move with it.

Why We Built Allelic

Allelic was founded on a straightforward premise: India has a massive, measurable need for genetic expertise — in clinical practice and in the workforce that delivers it — and the current infrastructure is not built to meet it. We work across two interconnected areas:

Genetic Counselling Services

Expert, ethical, and patient-centred guidance for individuals and families navigating genetic diagnoses, carrier status, reproductive decisions, hereditary cancer risk, and rare disease journeys. Our practice is grounded in evidence and led by professionals who understand that behind every result is a person making one of the most consequential decisions of their life.

Genetics Education for Healthcare Professionals

Structured, rigorous learning programmes designed not just for aspiring genetic counselors, but for clinicians across specialties who need to build meaningful genetics competency. Oncologists. Obstetricians. Paediatricians. Neurologists. Internists. The genomic precision medicine era demands that every specialty has a working relationship with genetics, and we are here to build that capability into India's clinical workforce.

India's genomics moment is here. Sequencing is affordable, testing is widespread, and the policy environment is finally catching up. What stands between that infrastructure and meaningful patient outcomes is a trained, distributed, skilled human workforce.

That is the gap Allelic was built to fill — and we are just getting started.