Saturday, July 13, 2024

Economic Impact of Genome-Wide Sequencing in Diagnosing Rare Diseases in Children

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Analyzing the financial ramifications of genome-wide sequencing (GWS) in diagnosing rare diseases is crucial within the healthcare sector. A recent study delved into whether GWS could reduce healthcare costs for children in Canada and England suffering from developmental and seizure disorders. Despite the high hopes for cost reduction, the study’s findings suggest otherwise, raising questions about the broader implementation of GWS in clinical settings.

This cohort study, a quasi-experimental retrospective analysis, examined three groups from English and Canadian cohorts, covering research and clinical settings. The study analyzed data from 2014 to 2019 and aimed to measure changes in healthcare costs before and after GWS. The primary focus was on annual healthcare costs and diagnostic costs per child. Mixed-effects generalized linear regression and difference-in-differences regression were employed to estimate the associations between GWS and healthcare expenditures.

Study Design and Participants

The research included 7775 patients from the 100,000 Genomes Project (100KGP), with 788 children diagnosed with epilepsy and 6987 with intellectual disabilities. Additionally, 77 patients from the Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Clinic and 118 children from publicly reimbursed GWS in British Columbia (BC) were analyzed. The study examined whether a genetic diagnosis from GWS could lead to a reduction in healthcare costs for these children.

Key Findings and Comparisons

The diagnostic yield from GWS varied across the cohorts: 18.1% for epilepsy and 18.9% for intellectual disabilities in the 100KGP, 39.8% in the CAUSES setting, and 54.5% in the BC publicly reimbursed setting. Despite the diagnostic success, receiving a genetic diagnosis did not correlate with reduced healthcare costs. Mean annual per-patient spending ranged from $724 in CAUSES to $5283 for epilepsy patients in the 100KGP cohort.

From a market access perspective, the findings highlight a significant challenge. While GWS can provide rapid and accurate diagnoses, the anticipated cost savings were not realized. This suggests that the value proposition for GWS should perhaps focus more on patient outcomes and cost-effectiveness rather than direct cost savings.

Market Access Insights

– The study indicates that despite the diagnostic accuracy of GWS, healthcare systems may not experience immediate cost savings.
– Policymakers and healthcare providers should consider the broader benefits of GWS, including potential long-term savings and improved patient care.
– The findings underline the importance of assessing the overall value of GWS, which might extend beyond direct financial metrics to include quality of life and long-term health outcomes.

In summary, while genome-wide sequencing has shown promise in providing rapid genetic diagnoses for children with rare diseases, the expected cost savings did not materialize in this study. This indicates that the implementation of GWS should be driven by patient benefits and overall cost-effectiveness rather than immediate economic gains.

Original Article:

JAMA Netw Open. 2024 Jul 1;7(7):e2420842. doi: 10.1001/jamanetworkopen.2024.20842.

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