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Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program
Haichen Zhang1,2, Jeffrey W Kleinberger2, Kristin A Maloney2
1Department of Endocrinology, Peking Union Medical College Hospital, Beijing, China.
Diabetes Care
|June 28, 2022
Summary
A new screening model effectively identified monogenic diabetes in patients. Self-referral proved most efficient, highlighting the potential of public education alongside clinical screening for personalized diabetes care.
Area of Science:
- Endocrinology
- Genetics
- Personalized Medicine
Background:
- Monogenic diabetes, caused by single-gene mutations, is often misdiagnosed as type 2 diabetes.
- Accurate diagnosis is crucial for effective, individualized therapy and management.
Purpose of the Study:
- To implement and evaluate a sustainable method for identifying and diagnosing monogenic diabetes.
- To promote individualized therapy for patients with monogenic diabetes.
Main Methods:
- Patients were screened using questionnaires, electronic health records, physician referrals, and self-referrals.
- Suspected cases underwent next-generation sequencing for 40 genes associated with monogenic diabetes.
Main Results:
- Out of 313 probands, 38 (12.1%) were diagnosed with monogenic diabetes via molecular testing.
- Self-referral showed the highest positivity rate (32.4%) for identifying cases.
- GCK and HNF1A were the most common genes with identified variants.
Conclusions:
- A multi-strategy screening model successfully integrated monogenic diabetes diagnosis into clinical settings.
- Public and clinician education, particularly promoting self-referral, can enhance diagnostic rates.
- This model supports personalized medicine by ensuring access to tailored treatments for monogenic diabetes.
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