Approved Research

Integration of clinical data and genomic data to construct diagnosis and prognosis system for digestive diseases and related complications

Lay summary

1. Aims: We aims to establish the diagnosis and prognosis system for digestive diseases and related complications using genotype and phenotype data, enhancing the translation from basic research to clinical application.

2. Scientific rationale: Digestive diseases and related complications constitute a large part of human diseases. However, the precise diagnosis and prognosis system for digestive disease are still far from satisfactory.  Accumulating evidence has suggested the integration of genotype and phenotype data could improve the specificity and sensitivity of diagnosis and prognosis of certain diseases.

3. Project duration: Three years will be needed to complete this project.

4.   Public health: An improved guidance on diagnosis and prognosis of digestive diseases and related complications would be provided for the benefits of public health. Besides, a preventive guideline for digestive diseases and related complications would be provided as well.

Scope extension:

Considering the diagnosis and prognosis of digestive diseases and related complications are still far from satisfactory, we wonder whether integration of both genotype and phenotype would help improve them.

In this study, we aim to construct a comprehensive and precise system for diagnosis and prognosis of digestive diseases and related complications derived from international code of illness version 10 (ICD-10) with integration of genotype and phenotype data from UK Biobank. Specifically, several basic purposes should be achieved in this research: (1) potential modifiable risk factors of digestive diseases and related complications would be identified; (2) the association between genotype and circulative biomarkers and the association between circulative biomarker and digestive diseases would be established; (3) two sets of diagnosis and prognosis of digestive diseases and related complications would be built and one with genotype data and the other without genotype data. Ultimately, health guidance for digestive disease will be offered to the public.

This study hopes to extend our scope from digestive diseases to cardiovascular and respiratory diseases: (1) identify shared modifiable risk factors among digestive, cardiovascular and respiratory diseases; (2) discover the genetic mechanisms of the crosstalk among digestive, cardiovascular and respiratory diseases; (3) design possible clinical strategies of managing patients, especially the elderly, with these diseases.