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Approved research

Boosting disease detection rate by characterizing the genetically informed normal range of biomarkers and imaging measures.

Principal Investigator: Dr Nathan White
Approved Research ID: 42124
Approval date: November 21st 2018

Lay summary

We aim to study the feasibility of generating personalized norms for biomedical tests given the genetic information. Many biomedical assessments, such as memory test, blood counts, and imaging measures, have substantial variations attributable to individuals' genetic background independent of disease process. However, current clinical practice is still accustomed to use one single reference norm for a given test, ignoring the potential background differences. To address this issue, we intend to study the applicability of personalized norms by using data from UK Biobank. We will examine how much information we can extract from the relationships between genotypes and values from biomedical assessments, including physical measures, cognitive functions, blood counts, urine assays, and imaging measures. We then determine whether the genetically corrected tests can help the early detection of illness. The disease status is determined through the registered record of health-related-outcomes in UK Biobank. We expect to conduct the project through 36 months to critically examine each of the biomedical tests available in UK Biobank. We envision that the results will facilitate the public health in the general population. The biomedical assessments can be further enriched by genetic information, enhancing the net benefit of biomedical tests.