Genetics in medicine : official journal of the American College of Medical Genetics · 2026
A budget impact analysis for the addition of rare disease genes to secondary findings screening during genome-wide sequencing.
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Kopac Nicola, Dragojlovic Nick, Llorian Elisabet Rodriguez, Lehman Anna, Lynd Larry D
Аннотация
PURPOSE: To estimate the potential budget impact to payers of returning secondary findings (SFs) for rare diseases identified through genome-wide sequencing (GWS) in the United States (US) and Canada.
METHODS: A population-based model was used to estimate the number of patients that would be identified in a given jurisdiction in Canada or the US for the 11 diseases on the ACMG-SFv3.2 list classified as "inborn errors of metabolism" or "miscellaneous phenotypes", as well as the budget impact of treating those patients over 5 years. Uncertainty was assessed using one-way sensitivity and scenario analyses.
RESULTS: Based on current trends in GWS utilization, 489 affected patients would be identified in the US and 35 in Canada in the first year of implementation, translating into potential budget impacts of US$66.8 million and US$2.5 million, respectively, in the two countries. By year 5, the estimated annual budget impact would grow to US$828.8 million in the US and US$18.6 million in Canada. Notably, amyloidosis therapies account for 94% of the total projected budget impact.
CONCLUSION: The addition of new rare diseases treatable with targeted drug therapies to the ACMG SF list may result in a significant number of cases diagnosed each year, and the budget impact of these findings should be considered when considering expanding access to GWS.
METHODS: A population-based model was used to estimate the number of patients that would be identified in a given jurisdiction in Canada or the US for the 11 diseases on the ACMG-SFv3.2 list classified as "inborn errors of metabolism" or "miscellaneous phenotypes", as well as the budget impact of treating those patients over 5 years. Uncertainty was assessed using one-way sensitivity and scenario analyses.
RESULTS: Based on current trends in GWS utilization, 489 affected patients would be identified in the US and 35 in Canada in the first year of implementation, translating into potential budget impacts of US$66.8 million and US$2.5 million, respectively, in the two countries. By year 5, the estimated annual budget impact would grow to US$828.8 million in the US and US$18.6 million in Canada. Notably, amyloidosis therapies account for 94% of the total projected budget impact.
CONCLUSION: The addition of new rare diseases treatable with targeted drug therapies to the ACMG SF list may result in a significant number of cases diagnosed each year, and the budget impact of these findings should be considered when considering expanding access to GWS.