Dr Jennifer Harris
Director of Research Policy, ABPI
Many rare diseases have a genetic origin, so genomics — the study of a person’s genetic sequence — has the potential to reduce this timeline through quicker diagnosis and greater access to testing.
Patients with rare diseases often face an unpredictable journey known as the ‘diagnostic odyssey.’ When considering that the average process towards a diagnosis lasts eight years, this compares just two years short of Odysseus’s journey — and can be just as fraught.
Studies and findings in rare disease genomics
The 100,000 Genomes Project is an initiative to sequence and study the role our genes play in health and disease. It led to ‘actionable findings’ for 25% of rare disease participants to date.1
Whether it is conducting genetic tests to enhance diagnosis or researching new treatments using genetic data, harnessing the power of genomics has the potential to transform the lives of all patients, particularly those with rare diseases.
Upskilling the current healthcare workforce in genomics is also a priority to ensure they can interpret the results from genomic tests and help patients understand their diagnosis and prognosis.
Using genomics in clinical research
Genomic testing can be used to improve diagnosis and patient care and for developing new treatments. The results of genomic tests can identify potential participants for clinical trials. Genomic data can provide biological insights that help understand rare diseases better and discover new drug targets.
The UK needs to collaborate globally on research, as rare disease patient populations are geographically dispersed. The sharing of data, knowledge and expertise through international research collaborations is equally as critical.
Growing the genomics workforce
We also need people in the UK’s genomics workforce with the right skills. Training in fields such as computational sciences, bioinformatics and data science is essential to understanding and interpreting genomic data. Upskilling the current healthcare workforce in genomics is also a priority to ensure they can interpret the results from genomic tests and help patients understand their diagnosis and prognosis.
The way forward in rare disease genomics
The Genome UK and Rare Disease Framework implementation plans for England include actions to make these happen. These plans are a big step forward in delivering on the Government and industry’s shared commitment to fully harness the power of genetic medicine to transform care for patients. It builds on the recommendations of our report on genomics last year.2
The industry will continue to work with government and system partners to deliver on these commitments and help people with rare diseases feel the full benefits of the UK’s leadership in genomics.
Find out more about ABPI’s recommendations on genomics in our report ‘Harnessing the UK’s genomics expertise to improve patient outcomes.’
[1] https://www.genomicsengland.co.uk/initiatives/100000-genomes-project/rare-disease
[2] https://www.abpi.org.uk/r-d-manufacturing/genomics-in-healthcare-and-research/harnessing-the-uk-s-genomics-expertise-to-improve-patient-outcomes/
