NIMS Medical Genetics Department: A beacon of hope for rare disease patients

View of the Nizam’s Institute of Medical Sciences in Hyderabad
| Photo Credit: Nagara Gopal

The Department of Medical Genetics at the Nizam’s Institute of Medical Sciences (NIMS), Hyderabadhas emerged as a beacon of hope for patients suffering from rare genetic disorders. Established in collaboration with the Centre for DNA Fingerprinting and Diagnostics (CDFD), the department has been providing state-of-the-art diagnostic and therapeutic services for over a decade.

The department treats a spectrum of rare conditions, including Gaucher Disease, Homocystinuria, Growth Hormone Deficiency, Methylmalonic Acidemia, Wilson Disease, Phenylketonuria, and Pompe Disease, among others.

The NIMS Medical Genetics department was founded in 2008 as the second such department in a government institution in India. In recognition of its outstanding contributions, it was designated as a Centre of Excellence (CoE) in 2021 under the National Policy for Rare Diseases by the Ministry of Health and Family Welfare. This designation underscores the department’s commitment to genetic diagnosis, counseling, and management of rare diseases, said Shagun Agarwal, additional professor, Department of Medical Genetics, NIMS Hyderabad.

The department provides a range of clinical services, including daily outpatient consultations, prenatal diagnostic services, genetic fetal sonography, fetal autopsy evaluation, and enzyme replacement therapy. The statistics reveal a significant increase in patient visits, with outpatient consultations rising from 2,453 in 2014 to over 12,000 in 2024. The number of prenatal ultrasounds, fetal autopsies, and invasive procedures, such as amniocentesis and chorionic villus sampling, has also seen a steady rise over the years.

NIMS director Bheerappa Nagari said that the department is actively involved in academic training, offering a three-year DrNB super-specialty residency program in Medical Genetics since 2015 and a two-year MSc Genetic Counseling course from 2019. It is also recognised as a DBT-NIDAN Kendra under the Department of Biotechnology’s UMMID initiative and serves as a training centre for clinical genetics.

Since its designation as a CoE, the department has been instrumental in implementing NPRD initiatives, providing financial aid for the treatment of rare diseases. So far, 434 patients have been enrolled for treatment support under NPRD, with 201 receiving approval and 121 currently undergoing therapy, added Dr Agarwal.