Genetic Testing Cost for Huntington Disease Nonstandard Across Centers of Excellence


A study from the International Parkinson and Movement Disorder Society Virtual Congress suggest that despite protocol adherence, average costs are moderately high and vary significantly.

Victor Sung, MD, director, University of Alabama at Birmingham (UAB) Huntington's Disease Clinic, codirector, UAB School of Medicine Neuroscience Module, and director, Birmingham VAMC Deep Brain Stimulation Program

Victor Sung, MD

Data from a study of Huntington Disease (HD) Centers of Excellence (COE) suggest that there is a pronounced variation in the cost of predictive genetic testing for HD despite the use of a standardized protocol among the centers.1

The average cost of undergoing the HD testing process was found to be $1157.12, ranging from as low as $275.00 to as high as $3640.00. The authors, including Victor Sung, MD, director, University of Alabama at Birmingham (UAB) Huntington's Disease Clinic, codirector, UAB School of Medicine Neuroscience Module, and director, Birmingham VAMC Deep Brain Stimulation Program, noted that although these average costs are only moderately high, “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.”

The data were presented at the International Parkinson and Movement Disorder Society (MDS) Virtual Congress 2021, September 17-22, by study author Michelle Massey, BS, PGY-4, UAB School of Medicine. Data included information from 47 Huntington’s Disease Society of America (HDSA) COEs, with 777 total tests administered in 2018.

“Despite the availability of predictive genetic testing for the diagnosis of Huntington disease, most at-risk individuals choose not to undergo testing,” Massey said in the presentation. “Cost of the predictive testing process may play a role in this, but there is limited data on such costs. Huntington’s Disease Society of America certifies Centers of Excellence in the US, and many patients pursuing predictive testing for HD seek to do so at these Centers of Excellence. Therefore, we sought to characterize such costs at Centers of Excellent in order to understand potential barriers in obtaining predictive genetic testing for the diagnosis of Huntington Disease.”

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The genetic testing itself reported an average cost of $352.80, but the total costs measures include a number of factors. Overall, these testing costs consisted of a number of components, including genetic counselling (average cost, $199.80 [95% CI, 137-262]), psychology assessment (average cost, $278.40 [95% CI, 209.20-347.50]), neuropsychology assessment (average cost, $666.33 [95% CI, 381.60-951.10]), neurology assessment (average cost, $317.50 [95% CI, 250.60-370.78]), social work visits (average cost, $52.83 [95% CI, 14.29-91.37]), and miscellaneous fees (average cost, $210.80 [95% CI 10.75-410.90]). Additionally, 46 COEs required a blood test, which cost an average of $352.80 (95% CI 305.70-400.00).

"Though I don't have all the data on this, my impression is that increasing number of high impact clinical trials is causing a slight increase in demand for predictive HD testing, and thus far COEs have mostly been able to meet that demand," Sung told NeurologyLive. "What is hard to capture is the volume of patients currently bypassing recommended testing protocols by testing with their primary care providers, but I think the threat of this always in the background is further incentive within the HD community to assure that we are decreasing barriers to access for this testing such as decreasing cost if and where possible."

In total, 46 COEs utilized genetic counseling, 24 required psychologists, 11 required neuropsychologists, 44 required neurologists, 30 required social workers, and 7 had miscellaneous fees. COE grant funds were able to cover the costs of some of these components at 59.6% of the COEs evaluated, with 57.5% offering other financial assistance to offset the process costs.1

Data have suggested that consultation with a neurologist before DNA analysis might be beneficial for all at-risk individuals, making these other facets of the process important steps alongside the testing itself.2 Additionally, although the HDSA recommends all at risk individuals who are considering undergoing genetic testing do so at a center that follows the HDSA guidelines, it is typically prohibited before the age of 18, though it can be done after a thorough neurological exam to confirm a diagnosis of juvenile-onset HD.3

The study included all of the HDSA-certified COEs in existence as of 2019, all of which agreed to perform HD predictive genetic testing adhering to the 2015 HDSA Genetic Testing Protocol.4 These COEs submit annual progress reports to the HDSA that include information about their processes, including costs of each component of the process at their site. Data from progress reports submitted in 2018 and 2019 were deidentified and summarized.

For more coverage of MDS 2021, click here.

1. Massey M, Orem T, Sung V. Cost of Predictive Genetic Testing for Huntington’s Disease at Centers of Excellence in the US. Presented at: MDS Congress 2021; September 17-22; Virtual. Poster 240.
2. Oosterloo M, Nijlsma EK, Verschuuren-Bemelmans CC, Schouten MI, de Die-Smulders C, Roos RAC. Predictive genetic testing in Huntington's disease: should a neurologist be involved? Eur J Hum Genet. 2020;28(9):1205-1209. doi:10.1038/s41431-020-0633-9
3. Genetic Testing & Family Planning. HDSA website. Udated 2021. Accessed September 20, 2021.
4. Genetic Testing Protocol for Huntington’s Disease. Huntington’s Disease Society of America. Published 2016. Accessed September 20, 2021.
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