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Abstract
Purpose
Maturity-onset diabetes of the young (MODY) represents a heterogenous group of monogenic
diabetes. Despite its autosomal dominant inheritance, many MODY participants in the
University of Chicago Monogenic Diabetes Registry have no family members enrolled.
We aimed to gather data on Registry participants’ experiences in 1) receipt of an
accurate diagnosis; 2) decisions regarding disclosure of their MODY genetic test results
with biological relatives; and 3) recommendations toward our Registry’s processes
and outreach.
Methods
We conducted 20 one-on-one semi-structured interviews with adult Registry participants.
Results
All participants found navigating the healthcare system challenging due to providers’
unfamiliarity with MODY and dismissal of its importance post-diagnosis. All had shared
their results with at least one relative, but many found relatives resistant to engaging
with their providers. Participants wanted to receive targeted information on their
condition and connect with other participants who have faced similar diagnostic and
treatment challenges.
Conclusion
Our results demonstrate that our probands faced resistance to reclassification of
their diabetes from both health care providers and relatives. In an effort to improve
cascade testing, the Registry is designing a portal to facilitate participant-research
team communication, and to provide additional supports for participants to involve
family members in testing.
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Article info
Publication history
Accepted:
January 12,
2023
Received in revised form:
January 11,
2023
Received:
August 18,
2022
Publication stage
In Press Accepted ManuscriptFootnotes
Preferred communication style : Email
Disclosure: The authors declare no conflict of interest.
Identification
Copyright
© 2023 Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.
