Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States

Guzauskas, Gregory F.; Jiang, Shangqing; Garbett, Shawn; Zhou, Zilu; Spencer, Scott J.; Snyder, Susan; Graves, John A.; Williams, Marc S.; Hao, Jing; Peterson, Josh F.; Veenstra, David L.

doi:10.1016/j.gim.2022.01.017

Cited by 19 publications

(19 citation statements)

References 42 publications

(49 reference statements)

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“…Modeling studies demonstrate that population-based DNA screening for HBOC in unselected women at age 30 is likely to be cost-effective (incremental cost-effectiveness ratio was $87,700/quality-adjusted life year) ( Guzauskas et al, 2020 ), and cascade testing of first-degree relatives modestly improves clinical and economic value. In contrast, population-based DNA screening for LS may be cost-effective in younger patient populations, but the plausible range of cost-effectiveness was higher than that for HBOC, and depended to some degree on lower test and intervention costs ( Guzauskas GF et al, 2022 ).…”

Section: Resultsmentioning

confidence: 99%

A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System

et al. 2022

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Introduction: DNA-based population screening has been proposed as a public health solution to identify individuals at risk for serious health conditions who otherwise may not present for medical care. The clinical utility and public health impact of DNA-based population screening is a subject of active investigation. Geisinger, an integrated healthcare delivery system, was one of the first healthcare systems to implement DNA screening programs (MyCode Community Health Initiative (MyCode) and clinical DNA screening pilot) that leverage exome data to identify individuals at risk for developing conditions with potential clinical actionability. Here, we demonstrate the use of an implementation science framework, RE-AIM (Reach, Effectiveness, Adoption, Implementation and Maintenance), to conduct a post-hoc evaluation and report outcomes from these two programs to inform the potential impact of DNA-based population screening.Methods: Reach and Effectiveness outcomes were determined from the MyCode research program, while Adoption and Implementation outcomes were measured using the clinical DNA screening pilot. Reach was defined as the number of patients who were offered and consented to participate in MyCode. Effectiveness of DNA screening was measured by reviewing MyCode program publications and synthesizing findings from themes. Adoption was measured by the total number of DNA screening tests ordered by clinicians at the clinical pilot sites. Implementation was assessed by interviewing a subset of clinical pilot clinicians about the deployment of and recommended adaptations to the pilot that could inform future program dissemination.Results:Reach: As of August 2020, 68% (215,078/316,612) of individuals approached to participate in the MyCode program consented. Effectiveness: Published evidence reported from MyCode demonstrates that DNA screening identifies at-risk individuals more comprehensively than clinical ascertainment based on phenotypes or personal/family history. Adoption: From July 2018 to June 2021, a total of 1,026 clinical DNA screening tests were ordered by 60 clinicians across the three pilot clinic sites. Implementation: Interviews with 14 clinicians practicing at the pilot clinic sites revealed motivation to provide patients with DNA screening results and yielded future implementation strategies.Conclusion: The RE-AIM framework offers a pragmatic solution to organize, analyze, and report outcomes across differently resourced and designed precision health programs that include genomic sequencing and return of clinically actionable genomic information.

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Section: Resultsmentioning

confidence: 99%

A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System

et al. 2022

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“…Around 36.8% of colorectal cancer studies reported testing costs over US$ 2000, a stark contrast to 18.2% studies with similar pricing in HBOC. A few recent studies 17,20,21,25,45,46 saw a reduction in price of testing, yet for the most part costs remained highly variable across settings. 27,47 Assumptions on uptake of prophylactic risk reduction surgeries also influenced results and was the most predominant factor affecting cost-effectiveness in HBOC studies.…”

Section: Discussionmentioning

confidence: 99%

“…However, unlike the previous work by Koldekoff et al 14 where studies on population-wide genetic testing for HBOC were excluded we made no such omission. Our decision to include these studies holds merit as recent studies 17,20,45,46 suggest that population-wide testing could be cost-effective in HBOC as well as colorectal cancer. These findings could be explained by reduction in germline testing costs and the choice A c c e p t e d M a n u s c r i p t of WTP limits.…”

Section: Discussionmentioning

confidence: 99%

“…There have been several additional studies on the cost-effectiveness of germline testing since the previous reviews. [16][17][18][19][20][21][22][23][24][25][26] Some of them assessed population-wide testing, 17,20 while others, evaluated the cost-utility of A c c e p t e d M a n u s c r i p t germline testing guided treatments in cancer patients with mutations. 26 Next-generation sequencing (NGS) has also become affordable.…”

Section: Introductionmentioning

confidence: 99%

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A review of the cost-effectiveness of genetic testing for germline variants in familial cancer

Teppala

Hodgkinson

Hayes

et al. 2022

Journal of Medical Economics

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Author contributionsST performed the literature search, data abstraction and synthesis, quality assessment and prepared the first draft of the manuscript. HT, PS and SH contributed to the conceptual design of the study and towards revisions to the manuscript. BH reviewed the literature search, methodology, quality assessment and provided feedback for revisions. All the authors read and agreed to the final version of the article.

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“…For LS, economic evidence on population genomic screening among unaffected individuals is limited. A recent U.S.-based economic evaluation suggests that adult population genomic screening among unselected 30-years-old individuals for LS variants would likely be cost-effective at a $150,000 willingness-to-pay threshold ( Guzauskas et al, 2022 ). In contrast, another study found that population genomic screening for LS in unaffected individuals at age 20, followed by cascade testing of first-degree relatives, would not be cost-effective compared to current practices ( Dinh et al, 2011 ).…”

Section: Is the Cost Of Case-finding Economically Balanced In Relatio...mentioning

confidence: 99%

From the patient to the population: Use of genomics for population screening

et al. 2022

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Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention at the population level given the ongoing under-ascertainment of high-risk and actionable genetic conditions using current strategies, particularly hereditary breast and ovarian cancer (HBOC), Lynch Syndrome (LS) and familial hypercholesterolemia (FH). The availability of large-scale next-generation sequencing strategies and preventive options for these conditions makes it increasingly feasible to screen pre-symptomatic individuals through public health-based approaches, rather than restricting testing to high-risk groups. This raises anew, and with urgency, questions about the limits of screening as well as the moral authority and capacity to screen for genetic conditions at a population level. We aimed to answer some of these critical questions by using the WHO Wilson and Jungner criteria to guide a synthesis of current evidence on population genomic screening for HBOC, LS, and FH.

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Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States

Cited by 19 publications

References 42 publications

A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System

A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System

A review of the cost-effectiveness of genetic testing for germline variants in familial cancer

From the patient to the population: Use of genomics for population screening

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