The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.

ABSTRACT:

Background

Monogenic diabetes presents opportunities for precision medicine but is underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria and (2) methods for genetic testing for monogenic diabetes, summarized resources for (3) considering a gene or (4) variant as causal for monogenic diabetes, provided expert recommendations for (5) reporting of results; and reviewed (6) next steps after monogenic diabetes diagnosis and (7) challenges in precision medicine field.

Methods

Pubmed and Embase databases were searched (1990-2022) using inclusion/exclusion criteria for studies that sequenced one or more monogenic diabetes genes in at least 100 probands (Question 1), evaluated a non-obsolete genetic testing method to diagnose monogenic diabetes (Q

SUBMITTER: Murphy R 

PROVIDER: S-EPMC10550998 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature