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

Rinki Murphy; Kevin Colclough; Toni I. Pollin; Jennifer M. Ikle; Pernille Svalastoga; Kristin A. Maloney; Cécile Saint-Martin; Janne Molnes; Paul W. Franks; Stephen S. Rich; Robert Wagner; Tina Vilsbøll; Kimberly K. Vesco; Miriam S. Udler; Tiinamaija Tuomi; Arianne Sweeting; Emily K. Sims; Jennifer L. Sherr; Robert K. Semple; Rebecca M. Reynolds; Maria J. Redondo; Leanne M. Redman; Richard E. Pratley; Rodica Pop-Busui; Wei Perng; Ewan R. Pearson; Susan E. Ozanne; Katharine R. Owen; Richard Oram; Rinki Murphy; Viswanathan Mohan; Shivani Misra; James B. Meigs; Nestoras Mathioudakis; Chantal Mathieu; Ronald C.W. Ma; Ruth J.F. Loos; Siew S. Lim; Lori M. Laffel; Soo Heon Kwak; Jami L. Josefson; John J. Nolan; Mariam Nakabuye; Mathias Ried-Larsen; Torben Hansen; Marta Guasch-Ferré; Christoffer Clemmensen; Mette K. Andersen; Anne Cathrine B. Thuesen; Jordi Merino; ADA/EASD PMDI

doi:10.1038/s43856-023-00369-8

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

Rinki Murphy, Kevin Colclough, Toni I. Pollin, Jennifer M. Ikle, Pernille Svalastoga, Kristin A. Maloney, Cécile Saint-Martin, Janne Molnes, Paul W. Franks, Stephen S. Rich, Robert Wagner, Tina Vilsbøll, Kimberly K. Vesco, Miriam S. Udler, Tiinamaija Tuomi, Arianne Sweeting, Emily K. Sims, Jennifer L. Sherr, Robert K. Semple, Rebecca M. ReynoldsMaria J. Redondo, Leanne M. Redman, Richard E. Pratley, Rodica Pop-Busui, Wei Perng, Ewan R. Pearson, Susan E. Ozanne, Katharine R. Owen, Richard Oram, Rinki Murphy, Viswanathan Mohan, Shivani Misra, James B. Meigs, Nestoras Mathioudakis, Chantal Mathieu, Ronald C.W. Ma, Ruth J.F. Loos, Siew S. Lim, Lori M. Laffel, Soo Heon Kwak, Jami L. Josefson, John J. Nolan, Mariam Nakabuye, Mathias Ried-Larsen, Torben Hansen, Marta Guasch-Ferré, Christoffer Clemmensen, Mette K. Andersen, Anne Cathrine B. Thuesen, Jordi Merino, ADA/EASD PMDI

Research output: Contribution to journal › Journal article › Research › peer-review

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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.

Original language	English
Article number	136
Journal	Communications Medicine
Volume	3
Issue number	1
Number of pages	24
ISSN	2730-664X
DOIs	https://doi.org/10.1038/s43856-023-00369-8
Publication status	Published - 2023

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Publisher Copyright:
© The Author(s) 2023.

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Murphy, R., Colclough, K., Pollin, T. I., Ikle, J. M., Svalastoga, P., Maloney, K. A., Saint-Martin, C., Molnes, J., Franks, P. W., Rich, S. S., Wagner, R., Vilsbøll, T., Vesco, K. K., Udler, M. S., Tuomi, T., Sweeting, A., Sims, E. K., Sherr, J. L., Semple, R. K., ... ADA/EASD PMDI (2023). The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion. Communications Medicine, 3(1), [136]. https://doi.org/10.1038/s43856-023-00369-8

The use of precision diagnostics for monogenic diabetes : a systematic review and expert opinion. / Murphy, Rinki; Colclough, Kevin; Pollin, Toni I.; Ikle, Jennifer M.; Svalastoga, Pernille; Maloney, Kristin A.; Saint-Martin, Cécile; Molnes, Janne; Franks, Paul W.; Rich, Stephen S.; Wagner, Robert; Vilsbøll, Tina; Vesco, Kimberly K.; Udler, Miriam S.; Tuomi, Tiinamaija; Sweeting, Arianne; Sims, Emily K.; Sherr, Jennifer L.; Semple, Robert K.; Reynolds, Rebecca M.; Redondo, Maria J.; Redman, Leanne M.; Pratley, Richard E.; Pop-Busui, Rodica; Perng, Wei; Pearson, Ewan R.; Ozanne, Susan E.; Owen, Katharine R.; Oram, Richard; Murphy, Rinki; Mohan, Viswanathan; Misra, Shivani; Meigs, James B.; Mathioudakis, Nestoras; Mathieu, Chantal; Ma, Ronald C.W.; Loos, Ruth J.F.; Lim, Siew S.; Laffel, Lori M.; Kwak, Soo Heon; Josefson, Jami L.; Nolan, John J.; Nakabuye, Mariam; Ried-Larsen, Mathias; Hansen, Torben ; Guasch-Ferré, Marta ; Clemmensen, Christoffer ; Andersen, Mette K.; Thuesen, Anne Cathrine B.; Merino, Jordi; ADA/EASD PMDI.

In: Communications Medicine, Vol. 3, No. 1, 136, 2023.

Research output: Contribution to journal › Journal article › Research › peer-review

Murphy, R, Colclough, K, Pollin, TI, Ikle, JM, Svalastoga, P, Maloney, KA, Saint-Martin, C, Molnes, J, Franks, PW, Rich, SS, Wagner, R, Vilsbøll, T, Vesco, KK, Udler, MS, Tuomi, T, Sweeting, A, Sims, EK, Sherr, JL, Semple, RK, Reynolds, RM, Redondo, MJ, Redman, LM, Pratley, RE, Pop-Busui, R, Perng, W, Pearson, ER, Ozanne, SE, Owen, KR, Oram, R, Murphy, R, Mohan, V, Misra, S, Meigs, JB, Mathioudakis, N, Mathieu, C, Ma, RCW, Loos, RJF, Lim, SS, Laffel, LM, Kwak, SH, Josefson, JL, Nolan, JJ, Nakabuye, M, Ried-Larsen, M, Hansen, T , Guasch-Ferré, M , Clemmensen, C , Andersen, MK , Thuesen, ACB , Merino, J & ADA/EASD PMDI 2023, 'The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion', Communications Medicine, vol. 3, no. 1, 136. https://doi.org/10.1038/s43856-023-00369-8

Murphy, Rinki ; Colclough, Kevin ; Pollin, Toni I. ; Ikle, Jennifer M. ; Svalastoga, Pernille ; Maloney, Kristin A. ; Saint-Martin, Cécile ; Molnes, Janne ; Franks, Paul W. ; Rich, Stephen S. ; Wagner, Robert ; Vilsbøll, Tina ; Vesco, Kimberly K. ; Udler, Miriam S. ; Tuomi, Tiinamaija ; Sweeting, Arianne ; Sims, Emily K. ; Sherr, Jennifer L. ; Semple, Robert K. ; Reynolds, Rebecca M. ; Redondo, Maria J. ; Redman, Leanne M. ; Pratley, Richard E. ; Pop-Busui, Rodica ; Perng, Wei ; Pearson, Ewan R. ; Ozanne, Susan E. ; Owen, Katharine R. ; Oram, Richard ; Murphy, Rinki ; Mohan, Viswanathan ; Misra, Shivani ; Meigs, James B. ; Mathioudakis, Nestoras ; Mathieu, Chantal ; Ma, Ronald C.W. ; Loos, Ruth J.F. ; Lim, Siew S. ; Laffel, Lori M. ; Kwak, Soo Heon ; Josefson, Jami L. ; Nolan, John J. ; Nakabuye, Mariam ; Ried-Larsen, Mathias ; Hansen, Torben ; Guasch-Ferré, Marta ; Clemmensen, Christoffer ; Andersen, Mette K. ; Thuesen, Anne Cathrine B. ; Merino, Jordi ; ADA/EASD PMDI. / The use of precision diagnostics for monogenic diabetes : a systematic review and expert opinion. In: Communications Medicine. 2023 ; Vol. 3, No. 1.

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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.",

author = "Rinki Murphy and Kevin Colclough and Pollin, {Toni I.} and Ikle, {Jennifer M.} and Pernille Svalastoga and Maloney, {Kristin A.} and C{\'e}cile Saint-Martin and Janne Molnes and Franks, {Paul W.} and Rich, {Stephen S.} and Robert Wagner and Tina Vilsb{\o}ll and Vesco, {Kimberly K.} and Udler, {Miriam S.} and Tiinamaija Tuomi and Arianne Sweeting and Sims, {Emily K.} and Sherr, {Jennifer L.} and Semple, {Robert K.} and Reynolds, {Rebecca M.} and Redondo, {Maria J.} and Redman, {Leanne M.} and Pratley, {Richard E.} and Rodica Pop-Busui and Wei Perng and Pearson, {Ewan R.} and Ozanne, {Susan E.} and Owen, {Katharine R.} and Richard Oram and Rinki Murphy and Viswanathan Mohan and Shivani Misra and Meigs, {James B.} and Nestoras Mathioudakis and Chantal Mathieu and Ma, {Ronald C.W.} and Loos, {Ruth J.F.} and Lim, {Siew S.} and Laffel, {Lori M.} and Kwak, {Soo Heon} and Josefson, {Jami L.} and Nolan, {John J.} and Mariam Nakabuye and Mathias Ried-Larsen and Torben Hansen and Marta Guasch-Ferr{\'e} and Christoffer Clemmensen and Andersen, {Mette K.} and Thuesen, {Anne Cathrine B.} and Jordi Merino and {ADA/EASD PMDI}",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2023.",

year = "2023",

doi = "10.1038/s43856-023-00369-8",

language = "English",

volume = "3",

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TY - JOUR

T1 - The use of precision diagnostics for monogenic diabetes

T2 - a systematic review and expert opinion

AU - Murphy, Rinki

AU - Colclough, Kevin

AU - Pollin, Toni I.

AU - Ikle, Jennifer M.

AU - Svalastoga, Pernille

AU - Maloney, Kristin A.

AU - Saint-Martin, Cécile

AU - Molnes, Janne

AU - Franks, Paul W.

AU - Rich, Stephen S.

AU - Wagner, Robert

AU - Vilsbøll, Tina

AU - Vesco, Kimberly K.

AU - Udler, Miriam S.

AU - Tuomi, Tiinamaija

AU - Sweeting, Arianne

AU - Sims, Emily K.

AU - Sherr, Jennifer L.

AU - Semple, Robert K.

AU - Reynolds, Rebecca M.

AU - Redondo, Maria J.

AU - Redman, Leanne M.

AU - Pratley, Richard E.

AU - Pop-Busui, Rodica

AU - Perng, Wei

AU - Pearson, Ewan R.

AU - Ozanne, Susan E.

AU - Owen, Katharine R.

AU - Oram, Richard

AU - Murphy, Rinki

AU - Mohan, Viswanathan

AU - Misra, Shivani

AU - Meigs, James B.

AU - Mathioudakis, Nestoras

AU - Mathieu, Chantal

AU - Ma, Ronald C.W.

AU - Loos, Ruth J.F.

AU - Lim, Siew S.

AU - Laffel, Lori M.

AU - Kwak, Soo Heon

AU - Josefson, Jami L.

AU - Nolan, John J.

AU - Nakabuye, Mariam

AU - Ried-Larsen, Mathias

AU - Hansen, Torben

AU - Guasch-Ferré, Marta

AU - Clemmensen, Christoffer

AU - Andersen, Mette K.

AU - Thuesen, Anne Cathrine B.

AU - Merino, Jordi

AU - ADA/EASD PMDI

PY - 2023

Y1 - 2023

N2 - 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.

AB - 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.

U2 - 10.1038/s43856-023-00369-8

DO - 10.1038/s43856-023-00369-8

M3 - Journal article

C2 - 37794142

AN - SCOPUS:85173521647

VL - 3

JO - Communications Medicine

JF - Communications Medicine

SN - 2730-664X

IS - 1

M1 - 136

ER -