Southampton researchers have developed a new scoring system that could help give more patients with rare diseases a diagnosis.
The 100,000 Genomes Project was an NHS England initiative to sequence and study the role our genes play in health and disease, particularly rare disease and cancer.
While the project diagnosed a quarter of affected participants, the rest did not receive a diagnosis.
In a new study, led by Prof Sarah Ennis, researchers have analysed genetic data from the project using a new technique. They show this could give more of these patients a diagnosis.
Results have been published in Genetics in Medicine.
Scoring genes
In this paper, the method - known as GenePy – was used to create a score for each disease-associated gene for each person. The researchers used it to calculate scores for 2,862 genes in over 78,000 participants in the project.
They then looked at people with the highest scores for each gene, to see if their symptoms matched those of the disease that gene was associated with.
Finding ‘missed’ diagnoses
Using this approach, the researchers identified potential diagnoses for 14% of undiagnosed participants in the project.
They therefore showed it could help diagnose more people with a rare diseases.
Prof Ennis is a Professor of Genomics at the University of Southampton. She is part of the Data, Health and Society theme in the NIHR Southampton Biomedical Research Centre.
“A constant driver for us in research, as we develop new tools, is to see the value of genomic data being translated into patient benefit,” she said.
“We are really pleased to now be building on these results to make these digital tools more sensitive, and so more clinically valuable.”
The research team are continuing to advance the GenePy software through a new funding award from the Engineering and Physical Sciences Research Council (EPSRC).