Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life

Stephanie R. Johnson, Hannah E. Carter, Paul Leo, Samantha A. Hollingworth, Elizabeth A. Davis, Timothy W. Jones, Louise S. Conwell, Mark Harris, Matthew A. Brown, Nicholas Graves, Emma L. Duncan

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

OBJECTIVE

Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of diabetes, with multiple causative genes. Some MODY subtypes can be treated with sulfonylureas instead of insulin, improving glycemic control, complication rates, quality of life (QoL), and costs. Using massively parallel sequencing (MPS), we recently determined the prevalence of pathogenic/ likely pathogenic MODY variants in an Australian pediatric diabetes cohort. Here, these data are used to estimate cost-effectiveness of using MPS for MODY in all pediatric diabetes cases compared with standard practice (sequencing limited to individuals with specific clinical features).

RESEARCH DESIGN AND METHODS

A Markov decision model was developed to estimate incremental costs and quality adjusted life-years (QALYs) of MPS screening, modeled over 30 years. We used our observed prevalence of 2.14% compared with 0.7% for standard practice, based on published data. The probabilities and utility weightings of long-term diabetes complications were based on HbA1c and estimated from published data. A series of one-way sensitivity analyses were performed using the net monetary benefit framework.

RESULTS

Routine MPS screening for MODY was more effective and less costly than standard care screening, with 26 QALYs gained and 1,016,000 AUD (782,000 USD) saved per 1,000 patients. Cost of screening was fully offset within 10 years. Routine MPS screening remained dominant until MODY prevalence fell to

CONCLUSIONS

Routine MPS screening for MODY in the pediatric population with diabetes could reduce health system costs and improve patient QoL. Our results make a compelling argument for routine genetic screening in all children with presumed type 1 diabetes mellitus.

Original languageEnglish
Pages (from-to)69-76
Number of pages8
JournalDiabetes Care
Volume42
Issue number1
DOIs
Publication statusPublished - 1 Jan 2019

Cite this

Johnson, Stephanie R. ; Carter, Hannah E. ; Leo, Paul ; Hollingworth, Samantha A. ; Davis, Elizabeth A. ; Jones, Timothy W. ; Conwell, Louise S. ; Harris, Mark ; Brown, Matthew A. ; Graves, Nicholas ; Duncan, Emma L. / Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort : Reduced Health System Costs and Improved Patient Quality of Life. In: Diabetes Care. 2019 ; Vol. 42, No. 1. pp. 69-76.
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title = "Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life",
abstract = "OBJECTIVEMaturity-onset diabetes of the young (MODY) is an autosomal dominant form of diabetes, with multiple causative genes. Some MODY subtypes can be treated with sulfonylureas instead of insulin, improving glycemic control, complication rates, quality of life (QoL), and costs. Using massively parallel sequencing (MPS), we recently determined the prevalence of pathogenic/ likely pathogenic MODY variants in an Australian pediatric diabetes cohort. Here, these data are used to estimate cost-effectiveness of using MPS for MODY in all pediatric diabetes cases compared with standard practice (sequencing limited to individuals with specific clinical features).RESEARCH DESIGN AND METHODSA Markov decision model was developed to estimate incremental costs and quality adjusted life-years (QALYs) of MPS screening, modeled over 30 years. We used our observed prevalence of 2.14{\%} compared with 0.7{\%} for standard practice, based on published data. The probabilities and utility weightings of long-term diabetes complications were based on HbA1c and estimated from published data. A series of one-way sensitivity analyses were performed using the net monetary benefit framework.RESULTSRoutine MPS screening for MODY was more effective and less costly than standard care screening, with 26 QALYs gained and 1,016,000 AUD (782,000 USD) saved per 1,000 patients. Cost of screening was fully offset within 10 years. Routine MPS screening remained dominant until MODY prevalence fell toCONCLUSIONSRoutine MPS screening for MODY in the pediatric population with diabetes could reduce health system costs and improve patient QoL. Our results make a compelling argument for routine genetic screening in all children with presumed type 1 diabetes mellitus.",
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Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort : Reduced Health System Costs and Improved Patient Quality of Life. / Johnson, Stephanie R.; Carter, Hannah E.; Leo, Paul; Hollingworth, Samantha A.; Davis, Elizabeth A.; Jones, Timothy W.; Conwell, Louise S.; Harris, Mark; Brown, Matthew A.; Graves, Nicholas; Duncan, Emma L.

In: Diabetes Care, Vol. 42, No. 1, 01.01.2019, p. 69-76.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort

T2 - Reduced Health System Costs and Improved Patient Quality of Life

AU - Johnson, Stephanie R.

AU - Carter, Hannah E.

AU - Leo, Paul

AU - Hollingworth, Samantha A.

AU - Davis, Elizabeth A.

AU - Jones, Timothy W.

AU - Conwell, Louise S.

AU - Harris, Mark

AU - Brown, Matthew A.

AU - Graves, Nicholas

AU - Duncan, Emma L.

PY - 2019/1/1

Y1 - 2019/1/1

N2 - OBJECTIVEMaturity-onset diabetes of the young (MODY) is an autosomal dominant form of diabetes, with multiple causative genes. Some MODY subtypes can be treated with sulfonylureas instead of insulin, improving glycemic control, complication rates, quality of life (QoL), and costs. Using massively parallel sequencing (MPS), we recently determined the prevalence of pathogenic/ likely pathogenic MODY variants in an Australian pediatric diabetes cohort. Here, these data are used to estimate cost-effectiveness of using MPS for MODY in all pediatric diabetes cases compared with standard practice (sequencing limited to individuals with specific clinical features).RESEARCH DESIGN AND METHODSA Markov decision model was developed to estimate incremental costs and quality adjusted life-years (QALYs) of MPS screening, modeled over 30 years. We used our observed prevalence of 2.14% compared with 0.7% for standard practice, based on published data. The probabilities and utility weightings of long-term diabetes complications were based on HbA1c and estimated from published data. A series of one-way sensitivity analyses were performed using the net monetary benefit framework.RESULTSRoutine MPS screening for MODY was more effective and less costly than standard care screening, with 26 QALYs gained and 1,016,000 AUD (782,000 USD) saved per 1,000 patients. Cost of screening was fully offset within 10 years. Routine MPS screening remained dominant until MODY prevalence fell toCONCLUSIONSRoutine MPS screening for MODY in the pediatric population with diabetes could reduce health system costs and improve patient QoL. Our results make a compelling argument for routine genetic screening in all children with presumed type 1 diabetes mellitus.

AB - OBJECTIVEMaturity-onset diabetes of the young (MODY) is an autosomal dominant form of diabetes, with multiple causative genes. Some MODY subtypes can be treated with sulfonylureas instead of insulin, improving glycemic control, complication rates, quality of life (QoL), and costs. Using massively parallel sequencing (MPS), we recently determined the prevalence of pathogenic/ likely pathogenic MODY variants in an Australian pediatric diabetes cohort. Here, these data are used to estimate cost-effectiveness of using MPS for MODY in all pediatric diabetes cases compared with standard practice (sequencing limited to individuals with specific clinical features).RESEARCH DESIGN AND METHODSA Markov decision model was developed to estimate incremental costs and quality adjusted life-years (QALYs) of MPS screening, modeled over 30 years. We used our observed prevalence of 2.14% compared with 0.7% for standard practice, based on published data. The probabilities and utility weightings of long-term diabetes complications were based on HbA1c and estimated from published data. A series of one-way sensitivity analyses were performed using the net monetary benefit framework.RESULTSRoutine MPS screening for MODY was more effective and less costly than standard care screening, with 26 QALYs gained and 1,016,000 AUD (782,000 USD) saved per 1,000 patients. Cost of screening was fully offset within 10 years. Routine MPS screening remained dominant until MODY prevalence fell toCONCLUSIONSRoutine MPS screening for MODY in the pediatric population with diabetes could reduce health system costs and improve patient QoL. Our results make a compelling argument for routine genetic screening in all children with presumed type 1 diabetes mellitus.

KW - GLYCEMIC CONTROL

KW - CHILDREN

KW - INSULIN

KW - MODY

KW - MUTATIONS

KW - DIAGNOSIS

KW - THERAPY

KW - COMPLICATIONS

KW - ADOLESCENTS

KW - POPULATION

U2 - 10.2337/dc18-0261

DO - 10.2337/dc18-0261

M3 - Article

VL - 42

SP - 69

EP - 76

JO - Diabetes Care

JF - Diabetes Care

SN - 0149-5992

IS - 1

ER -