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Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young
AIMS: Correct genetic diagnosis of maturity-onset diabetes of the young (MODY) is beneficial for person’s diabetes management compared to no genetic testing. Aim of the present study was a search for optimal time- and cost-saving strategies by comparing two approaches of genetic testing of participa...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Milan
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9219402/ https://www.ncbi.nlm.nih.gov/pubmed/35737141 http://dx.doi.org/10.1007/s00592-022-01915-x |
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author | Dusatkova, Petra Pavlikova, Marketa Elblova, Lenka Larionov, Vladyslav Vesela, Klara Kolarova, Katerina Sumnik, Zdenek Lebl, Jan Pruhova, Stepanka |
author_facet | Dusatkova, Petra Pavlikova, Marketa Elblova, Lenka Larionov, Vladyslav Vesela, Klara Kolarova, Katerina Sumnik, Zdenek Lebl, Jan Pruhova, Stepanka |
author_sort | Dusatkova, Petra |
collection | PubMed |
description | AIMS: Correct genetic diagnosis of maturity-onset diabetes of the young (MODY) is beneficial for person’s diabetes management compared to no genetic testing. Aim of the present study was a search for optimal time- and cost-saving strategies by comparing two approaches of genetic testing of participants with clinical suspicion of MODY. METHODS: A total of 121 consecutive probands referred for suspicion of MODY (Group A) were screened using targeted NGS (tNGS), while the other 112 consecutive probands (Group B) underwent a single gene test based on phenotype, and in cases of negative findings, tNGS was conducted. The study was performed in two subsequent years. The genetic results, time until reporting of the final results and financial expenses were compared between the groups. RESULTS: MODY was confirmed in 30.6% and 40.2% probands from Groups A and B, respectively; GCK-MODY was predominant (72.2% in Group A and 77.8% in Group B). The median number of days until results reporting was 184 days (IQR 122–258) in Group A and 91 days (44–174) in Group B (p < 0.00001). Mean costs per person were higher for Group A (639 ± 30 USD) than for Group B (584 ± 296 USD; p = 0.044). CONCLUSIONS: The two-step approach represented a better strategy for genetic investigation of MODY concerning time and costs compared to direct tNGS. Although a single-gene investigation clarified the diabetes aetiology in the majority of cases, tNGS could reveal rare causes of MODY and expose possible limitations of both standard genetic techniques and clinical evaluation. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00592-022-01915-x. |
format | Online Article Text |
id | pubmed-9219402 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Springer Milan |
record_format | MEDLINE/PubMed |
spelling | pubmed-92194022022-06-23 Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young Dusatkova, Petra Pavlikova, Marketa Elblova, Lenka Larionov, Vladyslav Vesela, Klara Kolarova, Katerina Sumnik, Zdenek Lebl, Jan Pruhova, Stepanka Acta Diabetol Original Article AIMS: Correct genetic diagnosis of maturity-onset diabetes of the young (MODY) is beneficial for person’s diabetes management compared to no genetic testing. Aim of the present study was a search for optimal time- and cost-saving strategies by comparing two approaches of genetic testing of participants with clinical suspicion of MODY. METHODS: A total of 121 consecutive probands referred for suspicion of MODY (Group A) were screened using targeted NGS (tNGS), while the other 112 consecutive probands (Group B) underwent a single gene test based on phenotype, and in cases of negative findings, tNGS was conducted. The study was performed in two subsequent years. The genetic results, time until reporting of the final results and financial expenses were compared between the groups. RESULTS: MODY was confirmed in 30.6% and 40.2% probands from Groups A and B, respectively; GCK-MODY was predominant (72.2% in Group A and 77.8% in Group B). The median number of days until results reporting was 184 days (IQR 122–258) in Group A and 91 days (44–174) in Group B (p < 0.00001). Mean costs per person were higher for Group A (639 ± 30 USD) than for Group B (584 ± 296 USD; p = 0.044). CONCLUSIONS: The two-step approach represented a better strategy for genetic investigation of MODY concerning time and costs compared to direct tNGS. Although a single-gene investigation clarified the diabetes aetiology in the majority of cases, tNGS could reveal rare causes of MODY and expose possible limitations of both standard genetic techniques and clinical evaluation. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00592-022-01915-x. Springer Milan 2022-06-23 2022 /pmc/articles/PMC9219402/ /pubmed/35737141 http://dx.doi.org/10.1007/s00592-022-01915-x Text en © Springer-Verlag Italia S.r.l., part of Springer Nature 2022 This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic. |
spellingShingle | Original Article Dusatkova, Petra Pavlikova, Marketa Elblova, Lenka Larionov, Vladyslav Vesela, Klara Kolarova, Katerina Sumnik, Zdenek Lebl, Jan Pruhova, Stepanka Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young |
title | Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young |
title_full | Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young |
title_fullStr | Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young |
title_full_unstemmed | Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young |
title_short | Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young |
title_sort | search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9219402/ https://www.ncbi.nlm.nih.gov/pubmed/35737141 http://dx.doi.org/10.1007/s00592-022-01915-x |
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