Genomics England Project Reaches Major Milestone That Could Revolutionize Genetic Rare Disease Treatment

According to a story from, the Genomics England company, which was founded as a subsidiary of the UK’s Department of Health and Social Care in 2013, announced recently that it has sequenced 50,000 genomes. This is the half-way point for the project, which plans to ultimately sequence 100,000 genomes using material from a staggering 70,000 people. The sequencing will strongly prioritize people with cancer and rare disease.

By compiling the data from 100,000 genomes, the company hopes to encourage study and research in order to substantially improve the quality of patient care and firmly entrench the UK as a global leader in genomics research. The current effort would not have been possible without the contributions of tens of thousands of people, and medical personnel across that nation have worked tirelessly new procedures, technologies, and processes to further integrate genomic medicine into standard medical care.

For more than any other group, the company’s efforts will have a major impact on the historically underserved rare disease community. Many rare diseases can be traced to genetic causes, and the availability of new tests have allowed many patients with rare diseases to receive an accurate diagnosis for the very first time, often coming after years of suffering, inaccurate diagnoses, and mystery. The project also hopes to help bring down costs.

Throughout the years of work that Genomics England has carried out so far, the company has also become steadily more efficient in its collection practices over time, and has developed more effective methods for extracting the quality genetic material that is essential for genomic sequencing. With this in mind, completing the latter half of the 100,000 genome goal should take less time than the first.

Ultimately, the collection process would not have been possible without the UK’s National Health Service, which has been instrumental in serving as a logistical basis for the genome collection process. Sir John Chisholm, the Executive Chair of Genomics England, is confident that the remainder of the collection process will be completed by the end of the year. With the vast trove of patient data, the potential for developing new treatment solutions for countless rare diseases may be on the horizon.

Share this post

Follow us