Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F22%3A10444732" target="_blank" >RIV/00216208:11130/22:10444732 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064203:_____/22:10444732 RIV/00216208:11320/22:10444732

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Jg59343_z3" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Jg59343_z3</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s00592-022-01915-x" target="_blank" >10.1007/s00592-022-01915-x</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young

Popis výsledku v původním jazyce

AIMS: Correct genetic diagnosis of maturity-onset diabetes of the young (MODY) is beneficial for person&apos;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 &lt; 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.

Název v anglickém jazyce

Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young

Popis výsledku anglicky

AIMS: Correct genetic diagnosis of maturity-onset diabetes of the young (MODY) is beneficial for person&apos;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 &lt; 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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30209 - Paediatrics

Projekt

<a href="/cs/project/NV18-01-00078" target="_blank" >NV18-01-00078: Geny ovlivňující funkci beta buňky pankreatu a jejich význam v patogenezi a léčbě monogenních forem diabetu</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2022

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Acta Diabetologica

ISSN

0940-5429

e-ISSN

1432-5233

Svazek periodika

59

Číslo periodika v rámci svazku

9

Stát vydavatele periodika

DE - Spolková republika Německo

Počet stran výsledku

10

Strana od-do

1169-1178

Kód UT WoS článku

000814937500001

EID výsledku v databázi Scopus

2-s2.0-85132772158