Victor Sung, MD, on the Cost of Genetic Testing for Huntington Disease

The director of the UAB Huntington's Disease Clinic offered his insight on a recent assessment of HD genetic testing at HDSA Centers of Excellence, and the associated costs for patients.

Recently, 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, University of Alabama at Birmingham (UAB) School of Medicine, suggesting that the costs associated with Huntington disease (HD) genetic testing vary greatly from center to center.

The data included information from 47 Huntington’s Disease Society of America (HDSA) Centers of Excellence (COEs), with 777 total tests administered in 2018. The findings showed that 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 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).

To find out more about these data and the state of genetic testing in HD, NeurologyLive briefly inquired with senior study author Victor Sung, MD, director, UAB Huntington's Disease Clinic, codirector, UAB School of Medicine Neuroscience Module, and director, Birmingham VAMC Deep Brain Stimulation Program.

NeurologyLive: Were any of your findings surprising or unexpected to you in any way?

Victor Sung, MD: I was surprised by the large variation in cost from center to center considering that all state that they adhere to suggested testing guidelines.

How would you describe the current state of testing in HD regarding access and demand?

Although I don't have all the data on this, my impression is that an 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. 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 a 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.

Is it a cause of concern that many at-risk patients forgo testing?

Not necessarily—we mostly feel that the driving force for at-risk patients to forego testing is the lack of disease-modifying therapies in HD—which contributes to the perception of lack of "something that can be done" for HD. We also have deep respect for the personal nature of the decision to test or not to test. However, if someone goes through the emotional decision process and does opt for predictive testing, I feel strongly that we then need to support the patient in any way we can by reducing/eliminating barriers to access to predictive testing.

Transcript edited for clarity. For more coverage of MDS 2021, click here.

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.