Authors' objectives: We conducted a health technology assessment to evaluate the safety, effectiveness, and cost-effectiveness of carrier screening programs for cystic fibrosis (CF), fragile X syndrome (FXS), hemoglobinopathies and thalassemia, and spinal muscular atrophy (SMA) in people who are considering a pregnancy or who are pregnant. We also evaluated the budget impact of publicly funding carrier screening programs, and patient preferences and values.

Authors' results and conclusions: Carrier screening for CF, FXS, hemoglobinopathies and thalassemia, and SMA is effective at identifying at-risk couples, and test results may impact preconception and reproductive decision-making. The cost-effectiveness and budget impact of carrier screening programs are uncertain for Ontario. Over the short term, carrier screening programs are associated with higher costs, and also higher chances of detecting at-risk pregnancies compared with no screening. The 5-year budget impact of publicly funding universal carrier screening programs is larger than that of risk-based programs. However, accounting for treatment costs of the screened health conditions results in a decrease in the total additional costs for universal carrier screening programs or in cost savings for risk-based programs. The people we spoke with who had sought out carrier screening valued the potential medical benefits of early detection and treatment, particularly the support and preparation for having a child with a potential genetic condition.

Authors' recommendations: Ontario Health, based on guidance from the Ontario Health Technology Advisory Committee, recommends publicly funding universal (population-wide) carrier screening programs for cystic fibrosis, fragile X syndrome, hemoglobinopathies and thalassemia, and spinal muscular atrophy conditional upon a pilot study to investigate and establish the implementation pathway.

Authors' methods: We performed a systematic literature search of the clinical evidence. We assessed the risk of bias of each included study using the Cochrane Risk of Bias tool and the Risk of Bias Assessment tool for Non-randomized Studies (RoBANS), and the quality of the body of evidence according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) Working Group criteria. We performed a systematic economic literature search and conducted cost-effectiveness analyses comparing preconception or prenatal carrier screening programs to no screening. We considered four carrier screening strategies: 1) universal screening with standard panels; 2) universal screening with a hypothetical expanded panel; 3) risk-based screening with standard panels; and 4) risk-based screening with a hypothetical expanded panel. We also estimated the 5-year budget impact of publicly funding preconception or prenatal carrier screening programs for the given conditions in Ontario. To contextualize the potential value of carrier screening, we spoke with 22 people who had sought out carrier screening.

Project Status: Completed

URL for project: https://www.hqontario.ca/evidence-to-improve-care/health-technology-assessment/reviews-and-recommendations/carrier-screening-programs-for-cystic-fibrosis-fragile-x-syndrome-hemoglobinopathies-and-thalassemia-and-spinal-muscular-atrophy

URL for protocol: https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=255554

Year Published: 2023

URL for published report: https://www.hqontario.ca/evidence-to-improve-care/health-technology-assessment/reviews-and-recommendations/carrier-screening-programs-for-cystic-fibrosis-fragile-x-syndrome-hemoglobinopathies-and-thalassemia-and-spinal-muscular-atrophy

English language abstract: An English language summary is available

Publication Type: Full HTA

Country: Canada

Pubmed ID: 37637488

Organisation Name: Ontario Health

Contact Address: 525 University Ave, Toronto, ON M5G 2L3

Contact Name: Nancy Sikich, Director Health Technology Assessment

Contact Email: oh-hqo_hta@ontariohealth.ca

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