Twist Bioscience and MedGenome partner to launch HOPE for Rare Diseases Program

New Delhi: Twist Bioscience, a U.S.-based synthetic biology and genomics company, has partnered with MedGenome to address the rare disease burden in India. The collaboration has led to the establishment of the HOPE for Rare Diseases Program, aimed at providing affordable and discounted access to whole exome sequencing for underprivileged patients in India.

Twist Bioscience will contribute to this mission by deploying its Twist Exome 2.0 technology. The technology focuses on detecting rare and inherited diseases, as well as germline cancers. By collaborating with MedGenome, Twist aims to bring this technology to underserved populations, helping clinicians obtain the genetic data they need to diagnose and treat rare diseases. 

Although genomic sequencing technology has been available for over a decade, it has struggled to gain widespread adoption in India due to its high costs, lack of awareness, and absence of insurance coverage. Healthcare in India is predominantly an out-of-pocket expense, placing advanced diagnostics like whole exome sequencing out of reach for many. The HOPE for Rare Diseases program, launched in August 2024, aims to change that by making these advanced diagnostic tools accessible to those who need them most.

The need for such a program is critical in a country like India, where at least 70 million people are affected by rare genetic diseases, many of them children. Globally, there are over 7,000 rare diseases, each affecting fewer than 200,000 people, but collectively impacting millions. In the United States alone, an estimated 25 million people suffer from rare diseases, with an even greater number in India. 

For many patients, the journey to a rare disease diagnosis can be long and filled with uncertainty. Symptoms may be apparent, but the specific disease, its causes, and potential treatments remain elusive. Whole exome sequencing, which focuses on protein-coding genes (the exome), has become a vital tool in helping clinicians identify genetic variants that could be responsible for a patient’s condition. This genetic information is critical for understanding potential treatment and management options, shortening the diagnostic journey, and improving patient outcomes.

MedGenome, which is commemorating a decade of genomics advancements in India, reaffirms its commitment to democratizing access to genetic testing through this partnership. By joining forces with Twist Bioscience, MedGenome is advancing its mission to make quality genetic solutions accessible to all sections of society.