Kristin A. Maloney

Oct 4, 2023 | nature.com | Rinki Murphy |Sarah Flanagan |Pål R. Njølstad |Kristin A. Maloney

AbstractMonogenic 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.