Product information and disease description Place of product in therapy Disease description Burden of Huntington's disease

Economic impact of diagnostic testing

8 evidence topics · 10 sources

Cost of predictive genetic testing at HDSA Centers of Excellence in the United States

“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.” (opens the source at this quote in a new tab)
“The average cost of these tests was $1,157.12, with a range of $275-3,640 (Figure 1).” (opens the source at this quote in a new tab)
“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).” (opens the source at this quote in a new tab)
“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.” (opens the source at this quote in a new tab)

Predictive testing uptake among at-risk individuals

“9407 predictive tests were performed across 23 UK centres.” (opens the source at this quote in a new tab)
“Using a prevalence figure of 12.3 × 10−5, the cumulative uptake of predictive testing in the 50% at-risk UK population from 1994 to 2014 was estimated at 17.4% (95% CI: 16.9–18.0%).” (opens the source at this quote in a new tab)
“Future therapies in HD will likely target presymptomatic individuals; therefore, identifying the at-risk population whose gene status is unknown is of significant public health value.” (opens the source at this quote in a new tab)

“The uptake of predictive testing in the entire HD 50% at-risk population in 2001 was calculated by three methods giving a range of 12.3-14.6%. Uptake after 20 years was estimated to be 14.7%.” (opens the source at this quote in a new tab)

Fear of health insurance loss and out-of-pocket payment for testing: North America

“After enrollment, 83 individuals [8.3%] pursued genetic testing. Their greatest concern was losing health insurance, and 41.6% of them [vs. 6.7% of those who did not pursue testing; P < 0.001] reported paying out of pocket for testing or other medical services to conceal their genetic risk from their insurer/employer.” (opens the source at this quote in a new tab)
“Among individuals who were tested, more United States residents [46.1%] than Canadian residents [0.0%; P = 0.02] paid out of pocket for health services or genetic testing.” (opens the source at this quote in a new tab)

Insurance protections for genetic information in the United States

“GINA prohibits group health plans, individual and group health insurance companies, and Medicare issuers from:” (opens the source at this quote in a new tab)
“GINA only provides for protection under health insurance and Medicare. Issuers of other types of insurance, such as long term care insurance, disability insurance, and life insurance may still request genetic information to determine eligibility and other coverage terms.” (opens the source at this quote in a new tab)
“Under GINA, an individual’s genetic test result is protected; however, health plans are permitted to use information about an individual’s disease when the disease has manifested.” (opens the source at this quote in a new tab)

Access costs: travel, time away from work, and counseling

“Distance is a structural barrier, and relates to the time and travel required to access PT, the financial and other opportunity costs associated with taking time away from work and family to attend appointments and the stress of navigating urban centers.” (opens the source at this quote in a new tab)

“Genetic counseling is necessary for presymptomatic or symptomatic HD genetic testing, but the lack of access to counseling because of geography or expense is a critical gap for many patients.” (opens the source at this quote in a new tab)
“The main advantage of tele-GC was reduction in travel time for both in-person GC first (n = 16) and tele-GC first (n = 11) participants.” (opens the source at this quote in a new tab)

Testing decisions when genetic services are fully funded: Israel

“This pattern persists even when economic barriers are removed, demonstrating that psychological factors remain primary determinants of testing uptake.” (opens the source at this quote in a new tab)

Demand for predictive testing after therapeutic trial news

“the demand for predictive testing in at risk individuals significantly increased following the press release reporting the successful completion of the Ionis-HTTRx (RG 6042) trial.” (opens the source at this quote in a new tab)

Reproductive genetic testing: cost-effectiveness of preimplantation genetic testing

“Cost-effectiveness analysis in a theoretical cohort of 3,851 couples, where one individual is heterozygous for Huntington disease.” (opens the source at this quote in a new tab)
“In vitro fertilization preimplantation genetic testing was associated with 77 more QALYs and a cost savings of $46,394,268.” (opens the source at this quote in a new tab)
“Most notably, in our theoretical cohort of couples, IVF preimplantation genetic testing resulted in 1,079 fewer Huntington disease-affected offspring.” (opens the source at this quote in a new tab)