Enhancing Diagnostic Equity of Genetic Testing Using Disease Super Panels

Genomics England Research Registry ID: 1077

Registered: 07/03/2024

Expert summary

This project aims to identify if Genomics England super panels provide better diagnostic power across ethnic groups than individual panels. Previous work in the 100,000 Genomes Project highlighted significant ethnic disparities in the diagnostic yield of genetic tests for ICAs, including Long QT Syndrome and Brugada Syndrome, with findings suggesting that existing Genomic Medicine Service gene panels may underperform for non-white populations, but this is reduced when super panels are used. Our proposed study seeks to replicate this analytical framework across the other fourteen disease super panels, including but not limited to, unexplained death in infancy, renal disorders, rare multisystem ciliopathy, and paediatric disorders. By employing individual and combined disease gene panels, we aim to assess the equity of variant identification and the diagnostic yield across different ethnic groups. This comprehensive approach intends to uncover potential disparities in genetic diagnostics, contributing to the refinement of gene panels to enhance diagnostic accuracy and equity for all ethnicities.

Lay summary

Our project sets out to explore how well genetic testing works for people from different ethnic backgrounds across a range of genetic conditions. Previously, our team looked into two specific heart conditions and found that the tests didn’t perform equally well for everyone, with people from non-white backgrounds being less likely to get accurate diagnoses. However, when a broader set of genes were included, diagnosis in groups became more equal. We plan to take this investigation further by studying a variety of other genetic conditions, such as kidney diseases, rare disorders that affect many parts of the body, and conditions affecting children. By doing so, we hope to find out if these differences in test performance exist across other conditions as well. Our goal is to make genetic testing more accurate and fair for everyone, no matter their background. This work could lead to better healthcare by ensuring that all patients receive the most precise diagnosis possible, enabling tailored treatments and management strategies.