Twist Teams Up with MedGenome in India to Diagnose Rare Diseases

To address the rare disease burden in India, MedGenome, a leading global genomics-driven diagnostics and research services company is partnering with Twist Bioscience, a leading and rapidly growing synthetic biology and genomics company based in the U.S., to establish the HOPE for Rare Diseases Program in India. Within the program, discounted whole exome sequencing is provided to the patients from economically disadvantaged families (with necessary documentation) and is a time limited program.

This collaboration coincides with MedGenome’s commemoration of a decade of pioneering genomics advancements in India. With this partnership, MedGenome reaffirms its commitment to democratize access to quality and affordable genetic solutions for all sections of society. MedGenome will continue to be guided by its vision to enhance healthcare affordability and accessibility and focus on its mission to leverage genomics to address the huge unmet need across emerging markets.

Twist Bioscience is deploying the Twist Exome 2.0 to support this mission1. Designed to enable researchers to detect rare and inherited diseases, as well as germline cancers, supporting researchers and clinicians in their ability to collect quality data with less sequencing.

The partnership between MedGenome and Twist Bioscience is to bring this technology to economically disadvantaged people in the world, providing the genetic information they need to end their diagnostic odysseys and help clinicians pursue the management and treatment of the disease.

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.

Rare genetic diseases are far from rare. By definition, each individual disease affects fewer than 200,000 people; however, there are more than 7,000 of these often-debilitating conditions. In the U.S., 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 odysseys 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. This uncertainty can go on for months or even years.

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.