Direct‐to‐consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services

Nolan, Joshua J; Ormondroyd, Elizabeth

doi:10.1111/cge.14332

Cited by 3 publications

(1 citation statement)

References 62 publications

(530 reference statements)

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“…The potential benefits, pitfalls and ethical concerns of direct-to-public genetic testing such as 23andMe and Ancestry that first emerged about 15 years ago are well rehearsed. [1][2][3] However, the…”

Section: Introductionmentioning

confidence: 99%

Cross-sectional evaluation of online direct-to-public calprotectin testing

Bishara,

Smith,

Roberts

et al. 2024

Frontline Gastroenterol

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Objective  Why about a quarter of patients with inflammatory bowel disease (IBD) suffer symptoms for more than a year before their diagnosis made is unclear. Low public awareness, embarrassment and the apprehension of invasive tests are cited. The anonymity of direct-to-public calprotectin testing may overcome these barriers. We sought to characterise what calprotectin testing is available directly to the public in the UK.Design/method We conducted a cross-sectional evaluation of the calprotectin assays available online in the UK. Collection kits were procured from eligible providers, and surplus stool tested to receive follow-up advice for known positive (>50–100 μg/g) and negative (<50 μg/g) stool samples. Results Half (54.5% (6/11)) of the available tests were home lateral flow tests and the remainder were laboratory-based ELISAs. The lateral flow tests were considerably cheaper than the laboratory-based tests (median (range) cost £14.20 (£7.85–21.00) vs £75.85 (£59–151), p<0.0001). The median turnaround time for the laboratory tests was 14 (range: 1–23) days. All but one provider used a positivity threshold of 50 μg/g. All tests included written and pictorial instructions with the testing kit. Contact with a physician was recommended for similar proportions of positive and negative calprotectin results (54.5% (6/11) vs 54.5% (6/11), p=1).Conclusion In the UK, the public can choose between inexpensive home-based lateral flow tests or send stool samples for gold-standard laboratory testing of calprotectin. The low cost and rapid turnaround times suggest that direct-to-public calprotectin testing could be promoted to try to reduce the time to IBD diagnosis.

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Section: Introductionmentioning

confidence: 99%

Cross-sectional evaluation of online direct-to-public calprotectin testing

Bishara,

Smith,

Roberts

et al. 2024

Frontline Gastroenterol

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Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing

Trottier,

Green,

Ovadia

et al. 2024

Molec Gen & Gen Med

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BackgroundConsumer genomic testing (CGT), including direct‐to‐consumer and consumer‐initiated testing, is increasingly widespread yet has limited regulatory oversight. To assess the current state, we surveyed genetics healthcare providers' experiences with CGT.MethodsA retrospective survey about experiences counseling on CGT results was completed by 139 respondents recruited from the National Society of Genetic Counselors, Clinical Cancer Genomics Community of Practice, and genetics professional societies.ResultsAmong respondents, 41% disagreed with the statement that potential benefits of CGT outweigh harms, 21% agreed, and 38% were undecided. A total of 94% encountered ≥1 challenge counseling CGT patients, including adverse psychosocial events (76%), incorrect variant interpretation (68%), and unconfirmed results (69%); unconfirmed results were more common among oncology providers (p = 0.03). Providers reporting higher total challenge scores (p = 0.004) or more psychosocial or interpretation challenges (p ≤ 0.01) were more likely to indicate CGT harms outweigh benefits. Those with higher CGT clinical volume were more likely to indicate benefits outweigh harms (p = 0.003). Additional CGT challenges included patient understanding and communication of results, false negatives, incorrect testing/care, and financial costs; seven respondents (6%) documented positive outcomes.ConclusionProviders counseling CGT patients encounter psychosocial and medical challenges. Collaborations between regulators, CGT laboratories, providers, and consumers may help mitigate risks.

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Should Commercial Diagnostic Testing Be Stimulated or Discouraged? Analyzing Willingness-to-Pay and Market Externalities of Three Commercial Diagnostic Tests in The Netherlands

Stadhouders,

van Vliet,

Brabers

et al. 2023

Appl Health Econ Health Policy

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Introduction Consumers may purchase commercial diagnostic tests (CDT) without prior doctor consultation. This paper analyzes three CDT markets—commercial cholesterol tests (CCT), direct-to-consumer genetic health tests (DGT) and total body scans (TBS)—in the context of the universal, collectively financed health care system of the Netherlands. Methods An online willingness-to-pay (WTP) questionnaire was sent to a representative sample of 1500 Dutch consumers. Using contingent valuation (CV) methodology, an array of bids for three self-tests were presented to the respondents. The results were extrapolated to the Dutch population and compared to current prices and follow-up medical utilization, allowing analysis from a societal perspective. Results Overall, 880 of 1500 respondents completed the questionnaire (response rate 59%). Of the respondents, 26–44% were willing to pay a positive amount for the CDT. Willingness-to-pay was correlated to age and household income, but not to health status or prior experience with these tests. At mean current prices of €29 for CCT, €229 for DGT and €1,650 for TBS, 3.3%, 2.5%, and 1.1%, were willing to purchase a CCT, DGT, and TBS, respectively. All three CDT resulted in net costs to the health system, estimated at €5, €16, and €44 per test, respectively. Reducing volumes by 90,000 CCTs (19%), 19,000 DGTs (5%) and 4,000 TBSs (2.5%) in 2019 would optimize welfare. Conclusion Most respondents were unwilling to consume CDT at any price or only if the CDT were provided for free. However, for a small group of consumers, societal costs exceed private benefits. Therefore, CDT regulation could provide small welfare gains. Supplementary Information The online version contains supplementary material available at 10.1007/s40258-023-00846-0.

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Direct‐to‐consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services

Cited by 3 publications

References 62 publications

Cross-sectional evaluation of online direct-to-public calprotectin testing

Cross-sectional evaluation of online direct-to-public calprotectin testing

Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing

Should Commercial Diagnostic Testing Be Stimulated or Discouraged? Analyzing Willingness-to-Pay and Market Externalities of Three Commercial Diagnostic Tests in The Netherlands

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