Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Dusatkova, Petra, Pavlikova, Marketa, Elblova, Lenka, Larionov, Vladyslav, Vesela, Klara, Kolarova, Katerina, Sumnik, Zdenek, Lebl, Jan, Pruhova, Stepanka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Milan 2022
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
_version_ 1784732105115172864
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
work_keys_str_mv AT dusatkovapetra searchforatimeandcostsavinggenetictestingstrategyformaturityonsetdiabetesoftheyoung
AT pavlikovamarketa searchforatimeandcostsavinggenetictestingstrategyformaturityonsetdiabetesoftheyoung
AT elblovalenka searchforatimeandcostsavinggenetictestingstrategyformaturityonsetdiabetesoftheyoung
AT larionovvladyslav searchforatimeandcostsavinggenetictestingstrategyformaturityonsetdiabetesoftheyoung
AT veselaklara searchforatimeandcostsavinggenetictestingstrategyformaturityonsetdiabetesoftheyoung
AT kolarovakaterina searchforatimeandcostsavinggenetictestingstrategyformaturityonsetdiabetesoftheyoung
AT sumnikzdenek searchforatimeandcostsavinggenetictestingstrategyformaturityonsetdiabetesoftheyoung
AT lebljan searchforatimeandcostsavinggenetictestingstrategyformaturityonsetdiabetesoftheyoung
AT pruhovastepanka searchforatimeandcostsavinggenetictestingstrategyformaturityonsetdiabetesoftheyoung