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

2023; Nature Portfolio; Volume: 3; Issue: 1 Linguagem: Inglês

10.1038/s43856-023-00369-8

2730-664X

Rinki Murphy, Kevin Colclough, Toni I. Pollin, Jennifer M. Iklé, Pernille Svalastoga, Kristin A. Maloney, Cécile Saint‐Martin, Janne Molnes, Deirdre K. Tobias, Jordi Merino, Abrar Ahmad, Catherine Aiken, Jamie L. Benham, Dhanasekaran Bodhini, Amy L. Clark, Kevin Colclough, Rosa Corcoy, Sara J. Cromer, Daisy Duan, Jamie L. Felton, Ellen C. Francis, Pieter Gillard, Véronique Gingras, Romy Gaillard, Eram Haider, Alice E. Hughes, Jennifer M. Iklé, Laura M. Jacobsen, Anna R. Kahkoska, Jarno L. T. Kettunen, Raymond J. Kreienkamp, Lee‐Ling Lim, Jonna M. E. Männistö, Robert Massey, Niamh‐Maire Mclennan, Rachel G. Miller, Mario Luca Morieri, Jasper Most, Rochelle N. Naylor, Bige Özkan, Kashyap Patel, Scott J. Pilla, Katsiaryna Prystupa, Sridaran Raghaven, Mary R. Rooney, Martin Schön, Zhila Semnani‐Azad, Magdalena Sevilla-González, Wubet Worku Takele, Claudia H.T. Tam, Anne Cathrine B. Thuesen, Mustafa Tosur, Amelia S. Wallace, Caroline C. Wang, Jessie J. Wong, Jennifer M. Yamamoto, Katherine Young, Chloé Amouyal, Mette K. Andersen, Maxine P. Bonham, Mingling Chen, Feifei Cheng, Tinashe Chikowore, Sian C. Chivers, Christoffer Clemmensen, Dana Dabelea, Adem Y. Dawed, Aaron J. Deutsch, Laura T. Dickens, Linda A. DiMeglio, Monika Dudenhöffer‐Pfeifer, Carmella Evans‐Molina, María Mercè Fernández-Balsells, Hugo Fitipaldi, Stephanie L. Fitzpatrick, Stephen E. Gitelman, Mark O. Goodarzi, Jessica A. Grieger, Marta Guasch‐Ferré, Nahal Habibi, Torben Hansen, Chuiguo Huang, Arianna Harris-Kawano, Heba M. Ismail, Benjamin Hoag, Randi K. Johnson, Angus G. Jones, Robert W. Koivula, Aaron Leong, Gloria K. W. Leung, Ingrid Libman, Kai Liu, S. Alice Long, William L. Lowe, Robert W. Morton, Ayesha A. Motala, Suna Önengüt-Gümüşcü, James S. Pankow, Maleesa Pathirana, Sofia Pazmino, Dianna Perez, John R. Petrie, Camille E. Powe, Alejandra Quinteros, Rashmi Jain, Debashree Ray, Mathias Ried‐Larsen, Zeb Saeed, Vanessa Santhakumar, Sarah Kanbour, Sudipa Sarkar, Gabriela S. F. Monaco, Denise Scholtens, Elizabeth Selvin, Wayne Huey‐Herng Sheu, Cate Speake, Maggie A. Stanislawski, Nele Steenackers, Andrea K. Steck, Norbert Stefan, Julie Støy, Rachael W. Taylor, Sok Cin Tye, Gebresilasea Gendisha Ukke, Marzhan Urazbayeva, Bart Van der Schueren, Camille Vatier, John M. Wentworth, Wesley Hannah, Sara L. White, Gechang Yu, Yingchai Zhang, Shao J. Zhou, Jacques Beltrand, Michel Polak, Elisa De Franco, Sarah E. Flanagan, Kristin A. Maloney, Andrew McGovern, Mariam Nakabuye, Pål R. Njølstad, Hugo Pomares‐Millan, Michele Provenzano, Cuilin Zhang, Yeyi Zhu, Sungyoung Auh, Russell J. de Souza, Andrea J. Fawcett, Chandra Gruber, Eskedar Getie Mekonnen, Emily Mixter, Diana Sherifali, Robert H. Eckel, John J. Nolan, Louis H. Philipson, Rebecca J. Brown, Liana K. Billings, Kristen E. Boyle, Tina Costacou, John Dennis, José C. Florez, Anna L. Gloyn, Maria F. Gomez, Peter A. Gottlieb, Siri Atma W. Greeley, Kurt Griffin, Andrew T. Hattersley, Irl B. Hirsch, Marie‐France Hivert, Korey K. Hood, Jami L. Josefson, Soo Heon Kwak, Lori M. Laffel, Siew Lim, Ruth J. F. Loos, Ronald C.W., Chantal Mathieu, Nestoras Mathioudakis, James B. Meigs, Shivani Misra, Viswanathan Mohan, Rinki Murphy, Richard A. Oram, Katharine R. Owen, Susan E. Ozanne, Ewan R. Pearson, Wei Perng, Toni I. Pollin, Rodica Pop‐Busui, Richard E. Pratley, Leanne M. Redman, María J. Redondo, Rebecca M. Reynolds, Robert K. Semple, Jennifer L. Sherr, Emily K. Sims, Arianne Sweeting, Jaakko Tuomilehto, Miriam S. Udler, Kimberly K. Vesco, Tina Vilsbøll, Róbert Wágner, Stephen S. Rich, Paul W. Franks, Shivani Misra, Ingvild Aukrust, Elisa De Franco, Sarah E. Flanagan, Pål R. Njølstad, Liana K. Billings, Katharine R. Owen, Anna L. Gloyn,

Genetics and Neurodevelopmental Disorders

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 (Question 2). The risk of bias was assessed using the revised QUADAS-2 tool. Existing guidelines were summarized for questions 3-5, and review of studies for questions 6-7, supplemented by expert recommendations. Results were summarized in tables and informed recommendations for clinical practice. Results There are 100, 32, 36, and 14 studies included for questions 1, 2, 6, and 7 respectively. On this basis, four recommendations for who to test and five on how to test for monogenic diabetes are provided. Existing guidelines for variant curation and gene-disease validity curation are summarized. Reporting by gene names is recommended as an alternative to the term MODY. Key steps after making a genetic diagnosis and major gaps in our current knowledge are highlighted. Conclusions We provide a synthesis of current evidence and expert opinion on how to use precision diagnostics to identify individuals with monogenic diabetes.