Objective: To characterize the cost of Huntington’s disease predictive genetic testing at Centers of Excellence in the US.

Background: Despite the availability of predictive genetic testing for the diagnosis of Huntington’s disease (HD), most at-risk individuals choose not to undergo testing. Cost of the predictive testing process may play a role in this, but data on this cost are limited. Huntington’s Disease Society of America (HDSA) certifies Centers of Excellence (COE’s) in the US, and many patients pursuing predictive testing for HD seek to do so at these COE’s. Here we describe the costs of this predictive testing process at COE’s in the US.

Method: All HDSA-certified COE’s agree to perform HD predictive genetic testing adhering to the 2015 HDSA Genetic Testing Protocol¹. Existing COE’s submit annual progress reports to HDSA containing detailed information about their genetic testing process, including costs of each component of the process at their site. Data from progress reports submitted in 2018 and 2019 were de-identified and summarized.

Results: As of 2019 there were 47 HDSA COE’s in the US, and in the preceding year, they performed HD predictive genetic testing on a total of 777 individuals. The average cost of these tests was $1,157.12, with a range of $275-3,640 (Figure 1). The average cost for the various components of the predictive testing process included: $199.80 for genetic counselling, $278.40 for psychology, $666.33 for neuropsychology, $317.50 for neurology, $52.83 for social work, $352.80 for gene testing, and $210.80 for miscellaneous fees (Figure 2). 59.6% of COE’s covered the cost of some component of the testing process out of COE grant funds, and 57.5% offered other financial assistance to offset the cost of the testing process.

Conclusion: This study describes the cost of predictive genetic testing at HD COE’s in the US, a first step in understanding potential financial barriers to predictive genetic testing in HD. While results suggest that average costs are only moderately high, there is significant variation in cost amongst the COE’s despite all reporting adherence to the same genetic testing protocol. Future studies should endeavor to better understand factors contributing to this cost variation between sites and explore other cost-related barriers in order to improve access to predictive genetic testing in HD.

References: 1. http://hdsa.org/wp-content/uploads/2015/02/HDSA-Gen-Testing-Protocol-for-HD.pdf

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cost-of-predictive-genetic-testing-for-huntingtons-disease-at-centers-of-excellence-in-the-us/