Purpose: The limited evidence available on the cost-effectiveness (CE) of expanded carrier screening (ECS) prevents its widespread use in most countries, including Italy. Herein, we aimed to estimate the CE of three ECS panels (i.e., American College of Medical Genetics and Genomics (ACMG) Tier 1 screening; "Focused Screening", testing 15 severe highly penetrant conditions, and ACMG Tier 3 screening) compared to no screening, the health care model currently adopted in Italy. Methods: The reference population consisted of Italian couples seeking pregnancy with no increased personal/familial genetic risk. The CE model was developed from the perspective of the Italian universal health-care system and based on the following assumptions: 100% sensitivity of investigated screening strategies; 77% intervention rate of at-risk couples (ARCs); no risk to conceive an affected child by risk-averse couples opting for medical interventions. Results: The incremental CE ratios (ICER) generated by comparing each genetic screening panel with no screening were: -14,875±1,208€/life years gained (LYG) for ACMG1S, -106,863±2,379€/LYG for Focused Screening and -47,277±1,430€/LYG for ACMG3S. ACMG1S and Focused Screening were dominated by ACMG3S. The parameter uncertainty did not significantly affect the outcome of the analyses. Conclusion: From a universal health care system perspective, all the three ECS panels considered in the study would be more cost-effective than no screening.

Implementing preconception expanded carrier screening in a universal healthcare system: a model-based cost-effectiveness analysis

Ciani, Oriana;Tarricone, Rosanna;
2023

Abstract

Purpose: The limited evidence available on the cost-effectiveness (CE) of expanded carrier screening (ECS) prevents its widespread use in most countries, including Italy. Herein, we aimed to estimate the CE of three ECS panels (i.e., American College of Medical Genetics and Genomics (ACMG) Tier 1 screening; "Focused Screening", testing 15 severe highly penetrant conditions, and ACMG Tier 3 screening) compared to no screening, the health care model currently adopted in Italy. Methods: The reference population consisted of Italian couples seeking pregnancy with no increased personal/familial genetic risk. The CE model was developed from the perspective of the Italian universal health-care system and based on the following assumptions: 100% sensitivity of investigated screening strategies; 77% intervention rate of at-risk couples (ARCs); no risk to conceive an affected child by risk-averse couples opting for medical interventions. Results: The incremental CE ratios (ICER) generated by comparing each genetic screening panel with no screening were: -14,875±1,208€/life years gained (LYG) for ACMG1S, -106,863±2,379€/LYG for Focused Screening and -47,277±1,430€/LYG for ACMG3S. ACMG1S and Focused Screening were dominated by ACMG3S. The parameter uncertainty did not significantly affect the outcome of the analyses. Conclusion: From a universal health care system perspective, all the three ECS panels considered in the study would be more cost-effective than no screening.
2023
2023
Busnelli, Andrea; Ciani, Oriana; Caroselli, Silvia; Figliuzzi, Matteo; Poli, Maurizio; Levi-Setti, Paolo Emanuele; Tarricone, Rosanna; Capalbo, Antonio
File in questo prodotto:
File Dimensione Formato  
Busnelli et al_Text_revision_highlighted OC.docx

non disponibili

Descrizione: article
Tipologia: Documento in Pre-print (Pre-print document)
Licenza: NON PUBBLICO - Accesso privato/ristretto
Dimensione 69.33 kB
Formato Microsoft Word XML
69.33 kB Microsoft Word XML   Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11565/4058256
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
social impact