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Approved research

Assessing the prevalence, penetrance and pathogenicity of rare genomic variants.

Principal Investigator: Leigh Jackson
Approved Research ID: 49847
Approval date: April 6th 2020

Lay summary

Our project aims to use the data from UK Biobank to maximise NHS patient benefit. The majority of research projects that combine DNA and health records are restricted to certain diseases. This project allows us to make new discoveries and test how existing tests and screening approaches would work in a wider UK population. Private companies are selling DNA tests to the public and if this information is not correct, it could cause undue distress, further testing, and potentially lead to unnecessary treatment. We hope to reduce the impact of this by giving more accurate genetic variant interpretation and helping to educate doctors. We will examine the accuracy of the DNA chip data (similar to those used by these companies) and compare to the higher quality data which examines all of the DNA. By starting with genes which can cause breast and colorectal cancer, we can estimate how many people may be at risk of needless mastectomies, colonoscopies and other interventions if these chips are not very accurate. We also aim to help patients suffering from rare disease by using the generously donated data from this and other projects to look for new genes or DNA changes which cause disease. We can look across the hospital and GP data for symptoms and diseases and see if groups of people share changes in their DNA which may cause thse. This may lead to new and/or better treatments and more accurate information to help people make decisions about their lives and future children. Finally, we hope to generate better estimates of lifetime risk and the impact of family history for serious diseases which have a huge impact on people's lives. We will take everyone with known disease-causing genetic changes in their DNA and see how many end up with that disease and what other factors affect this. Again, this will allow patients to make more informed choices about their care and families. Most current estimates come only from groups who have a family history of disease, we will examine the risk in those who don't as we suspect the risk to be much lower, potentially saving years of worry for such people who have discovered their DNA results without having a condition first.