Twist Teams Up with MedGenome in India to Diagnose Rare Diseases

Rare genetic diseases are far from rare. By definition, each individual disease affects fewer than 200,000 people¹; however, there are more than 7,000² of these often debilitating conditions. In the U.S., around 25 million¹ people are affected. In India, that number is even higher, at least 70 million³, many of them children.

To help ease the rare disease burden in India, Twist is partnering with MedGenome, a global genomic-driven diagnostics and research services company, to establish the HOPE for Rare Diseases Program, which provides discounted whole exome sequencing for economically disadvantaged families with necessary documentation for a limited time. This collaboration coincides with MedGenome’s celebration of a decade of pioneering genomic services in India.

People contending with rare diseases often face lengthy odysseys as they 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 end the diagnostic odyssey for many families. Whole exome sequencing can survey the entire genome, or focus 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.

But while the technology has been around for more than a decade, patient access remains a significant problem. This is particularly true in India, where high poverty and an underdeveloped diagnostic infrastructure makes it difficult for patients and families to get the testing they so desperately need.

HOPE for Rare Diseases was created to help alleviate this problem. Established in July 2024, the program provides whole exome sequencing for impoverished rare disease patients.

Twist is deploying the Twist Exome 2.0 to support this mission⁴. Designed to enable the detection of rare and inherited diseases, the panel delivers high accuracy and efficiency, giving researchers and clinicians the support to collect quality data with less sequencing.

The partnership between Twist and MedGenome is committed to bringing this essential technology to some of the most economically disadvantaged people in the world, providing the information they need to end their diagnostic odysseys and, hopefully, pursue treatments.

References

1. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/rare-disease. (2011, February 2). Www.cancer.gov; National Cancer Institute. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/rare-disease
2. The landscape for rare diseases in 2024. (2024). The Lancet Global Health, 12(3). https://doi.org/10.1016/S2214-109X(24)00056-1
3. Chakraborty, M., Choudhury, M. C., Chakraborty, I., & Saberwal, G. (2022). Rare disease patients in India are rarely involved in international orphan drug trials. PLOS Global Public Health, 2(8), e0000890. https://doi.org/10.1371/journal.pgph.0000890
4. Twist Exome 2.0 is for Research Use Only. For additional information, please visit www.twistbioscience.com