Rare disease genetic diagnosis with the Genomic England 100,000 Genomes Project (GEL) UK

Genome sequencing is the process of determining the complete DNA sequence of an organism’s genome. This includes all of the organism’s genes, as well as any non-coding DNA. Although the predicted number of human genes before 2003 was around 300,000, with the completion of the human genome sequencing projects, it was discovered we only have around 21,000 genes ¹. With further developments in sequencing approaches, new high throughput methods, and reduction in resources required, the average cost of sequencing the human genome of an individual has been reduced from $2 billion to approximately £700 ².

Genome sequencing has revolutionized our understanding of biology and has had a major impact on many areas of science and medicine. For example, it has led to the development of new cancer therapies and has helped us to better understand the evolution of viruses.

In partnership with the NHS, Genomics England intially was setup to provide 100,000 whole genomes set out by the UK government in 2015. This was achieved in 2018, when over 100,000 genomes of families with rare diseases or cancer had been generated, to provide sequence based diagnostics to these families ³.

Academics, clinicians, and students worldwide can join the research community at GEL, the Genomics England Clinical Interpretations Partnership (GECIP, for short). Being part of several GECIPs (Hearing and Sight, Neuroscience, Quantitative methods, machine learning and functional genomics;) has enabled me to query both the whole genome as well as the human phenotype data to establish novel causes of known eye conditions, and novel variants of known genes using the Research Embassy secureenvironment. Whilst all patient data remains on the GEL Research Embassy, bioinformatic scripts I have generated can be readily found on my GitHub repo .