Can genomic screening end the diagnostic odyssey for patients with rare blood disorders?

For many patients with rare blood disorders, reaching a diagnosis can become a long and exhausting journey marked by repeated hospital visits, multiple investigations and years of uncertainty. Conditions causing unexplained anaemia, abnormal blood counts, recurrent infections, bleeding problems or bone marrow failure often remain undiagnosed because their symptoms overlap with several other diseases.

A child repeatedly hospitalised for severe anaemia, a young adult experiencing unexplained bleeding episodes, or a family moving from one specialist to another in search of answers — these are not uncommon experiences in the world of rare blood disorders, said Dr. Shrinidhi Nathany, Consultant Molecular Hematology & Oncology, FMRI Gurgaon.

More from Health

According to Dr. Nathany, for many patients, the biggest challenge is not treatment but getting the right diagnosis in the first place. The prolonged search for answers, involving multiple investigations and consultations, is often referred to as a “diagnostic odyssey”.

Rare blood disorders frequently present with vague and overlapping symptoms such as fatigue, recurrent infections, low blood counts, excessive bruising or unexplained bleeding. In many cases, patients continue to undergo investigations for years before the underlying cause is identified, leading to emotional and financial stress for families.

Experts say genomic screening is emerging as a powerful tool that could help address this challenge by identifying disease-causing genetic changes and providing a clearer understanding of the condition.

Unlike conventional tests that focus mainly on symptoms and visible abnormalities, genomic screening analyses a person’s genetic information to detect inherited mutations linked to rare blood disorders. Since a significant proportion of these conditions have a genetic basis, identifying the specific mutation can help doctors reach a diagnosis earlier and more accurately.

Early diagnosis can transform treatment and counselling

The importance of an early diagnosis cannot be overstated. A confirmed genetic diagnosis can help doctors tailor treatment strategies, monitor patients more effectively and identify appropriate options, including potentially curative approaches such as stem cell transplantation in eligible patients.

Dr. Nathany said genomic screening is helping clinicians move beyond symptom-based treatment by identifying the root cause of disease.

“By pinpointing the exact mutation or genetic abnormality, clinicians can often reach a diagnosis much earlier than was previously possible,” she said.

A genetic diagnosis also has implications beyond the individual patient. It can help families understand inherited risks, allow screening of relatives where appropriate, support reproductive counselling and enable informed decision-making for future generations.

Dr. Sufi Roomi, Medical Spokesperson at Jolly Healthcare, said rare blood disorders often leave patients and families facing years of uncertainty due to delayed diagnosis.

“Many children and adults experience continuous episodes of anaemia, low blood counts, bleeding, infections or bone marrow-related problems, yet the exact cause may remain unclear for years,” she said.

According to Dr. Roomi, genomic screening can help identify inherited mutations and disease-causing genetic changes responsible for these conditions, allowing doctors to provide more targeted care.

Genomics moves blood disorder treatment towards personalised care

Dr. Vishnu Hari, Associate Director and Head of Medical Oncology, Haematology and Bone Marrow Transplant at Sarvodaya Hospital (Faridabad) said patients with rare blood disorders often undergo years of investigations before receiving a definitive diagnosis.

“Genomic screening has emerged as a strong instrument that can shorten this diagnostic journey, especially when disease-causing genetic variations are detected early,” he said.

According to Dr. Hari, genomic testing does more than confirm a diagnosis. It can influence treatment decisions, help doctors predict disease progression and support family screening and genetic counselling.

In inherited blood disorders, identifying the exact genetic abnormality can guide doctors in selecting the most appropriate management approach, including advanced treatments such as bone marrow transplantation for eligible patients.

India’s growing genomic medicine landscape

India is at an important stage in the adoption of genomic medicine. Advances in sequencing technology have made genetic testing faster and more accessible, but experts say awareness, affordability and availability remain key challenges.

Dr. Nathany said the goal of genomic screening is not only to identify diseases but also to provide patients with answers and enable more precise care.

“As clinicians, our goal is not merely to treat disease but to provide answers. Genomic screening is helping us do exactly that. While it may not eliminate every diagnostic challenge, it is significantly shortening the path to diagnosis and enabling more precise, personalised care,” she said.

As genomic technologies continue to evolve, experts believe they could play a crucial role in reducing diagnostic delays, improving treatment planning and transforming outcomes for patients living with rare blood disorders.