Polygenic Assessment and Autoimmunity Testing for Health-System Screening of Type 1 Diabetes
This study uses a polygenic score to identify adults at increased genetic risk for type 1 diabetes and invites eligible participants for islet autoantibody screening, supporting earlier detection of presymptomatic autoimmune diabetes.
Aims & What Participation Involves
Aims
- Identify adults at increased genetic risk for type 1 diabetes using genetic data in the MGB Biobank.
- Evaluate how clinical factors relate to islet autoantibody positivity within this genetically enriched group.
What Participation Involves
- Review of existing biobank and health record data; no action needed unless contacted.
- For eligible participants: islet autoantibody testing, using an archived sample where available or a new blood draw.
- Participants with positive antibody results and no prior diabetes diagnosis may be invited for an oral glucose tolerance test visit.
The genetics behind who PATHS-T1D recruits.
Objective: Polygenic scores strongly predict type 1 diabetes risk, but most were developed in European-ancestry populations. This study developed a multi-ancestry polygenic score (T1D MAPS) to predict type 1 diabetes risk across diverse populations.
Methods: The score was trained in the Mass General Brigham Biobank and tested in the All of Us program, and compared against two published single-ancestry scores.
Results: Among individuals of non-European ancestry, T1D MAPS had significantly higher predictive accuracy than existing single-ancestry scores, while maintaining high performance in European ancestry.
Conclusions: The novel score improves type 1 diabetes risk prediction in non-European ancestry while maintaining predictive power in European ancestry — the same multi-ancestry score PATHS-T1D uses to identify participants for screening.