Genomics England sequenced 100,000 genomes in five years

The UK’s initiative to sequence 100 thousand genomes reached its goal after operating for five years and five months.

Whole-genome sequencing was offered to patients with 100 rare disorders and seven common cancers.

During the project operations, Genomics England and NHS created 13 centers conducting sequencing, which could reach from 3 to 5 million individuals at direct healthcare level.

Apart from research purposes, sequencing data were utilized in diagnosis and treatment procedures to help participants suffering from rare diseases or cancers.

Genomics England published cases of genetic support in the clinical setting, for example, a definition of a rare disease caused by a mutation in SLC2A1 gene (more).

Two months earlier Genomics England already announced aim to sequence one million and then five million genomes in the next five years.