Twist, MedGenome partner in India to diagnose rare diseases

To address the rare disease burden in India, MedGenome, a genomics-driven diagnostics and research services company is partnering with Twist Bioscience, a synthetic biology and genomics company based in the US, to establish the HOPE for Rare Diseases Program in India. Within the program, discounted whole exome sequencing is provided to patients from economically disadvantaged families (with necessary documentation) and is a time-limited program. The partnership between MedGenome and Twist Bioscience aims to provide the genetic information they need to end their diagnostic odysseys and help clinicians pursue the management and treatment of the disease.

Each rare genetic disease affects fewer than 200,000 people; however, there are more than 7,000 of these often debilitating conditions. In the US, around 25 million people are affected. In India, this number is even higher, at least 70 million, many of them children.

People contending with rare diseases often face lengthy procedures as clinicians try to find a diagnosis. While the symptoms are often obvious, clinicians may not have the precise tools to identify the exact disease, its underlying causes or potential treatments. Genomic sequencing has helped address this challenge for clinicians. Whole exome sequencing focuses on protein-coding genes (the exome), to find the genetic variants that may be causing each patient’s specific condition, information that could suggest potential management and treatment options. 

Although this technology has been available for over a decade, it has not gained significant traction due to its cost, limited awareness, and the lack of insurance coverage, as healthcare in India remains an out-of-pocket expense. The HOPE for Rare Diseases program, established in August 2024 aims to address this issue and provide whole exome sequencing for impoverished rare disease patients.