The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group

Teutsch, Steven M.; Bradley, Linda; Palomaki, Glenn E.; Haddow, James E.; Piper, Margaret; Calonge, Ned; Dotson, W. David; Douglas, Michael P.; Berg, Alfred O.

doi:10.1097/gim.0b013e318184137c

Cited by 566 publications

(381 citation statements)

References 36 publications

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“…For example, will a genetic risk assessment that is believed to motivate a change in patient behavior, rather than changes in physician testing or prescribing regimens, be considered medically actionable and thus worthy of a claim on health care dollars? The threshold defined by clinicians in practice may or may not conform to the rigorous standards proposed by groups such as EGAPP [72] – and patients may view the threshold differently than clinicians.…”

Section: Benefits Of Defining the Issuesmentioning

confidence: 99%

Debating Clinical Utility

Burke

Laberge

Press

2010

Public Health Genomics

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The clinical utility of genetic tests is determined by the outcomes following test use. Like other measures of value, it is often contested. Stakeholders may have different views about benefits and risks and about the importance of social versus health outcomes. They also commonly disagree about the evidence needed to determine whether a test is effective in achieving a specific outcome. Questions may be presented as factual disagreements, when they are actually debates about what information matters or how facts should be interpreted and used in clinical decision-making. Defining the different issues at stake is therefore an important element of policy-making. Key issues include evidence standards for test use, and in particular, the circumstances under which prospective controlled data should be required, as well as evidence on feasibility, cost and equitable delivery of testing; the goals of population-based screening programs, and in particular, the role of social outcomes in evaluating test value; and the appropriate uses and funding of tests that inform non-medical actions. Addressing each of these issues requires attention to stakeholder values and methods for effective deliberation that incorporate consumer as well as health professional perspectives.

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Section: Benefits Of Defining the Issuesmentioning

confidence: 99%

Debating Clinical Utility

Burke

Laberge

Press

2010

Public Health Genomics

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“…When developing any genetic screening program, there are clear guidelines to assist in the assessment of the acceptability and feasibility of a screening program (Teutsch et al 2009). Many of the criteria outlined in screening guidelines were raised by health professionals in this study, particularly those with a medical background, perhaps reflecting content included in medical training.…”

Section: Discussionmentioning

confidence: 99%

“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

et al. 2016

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This study aims to explore stakeholder views about offering population-based genetic carrier screening for fragile X syndrome. A qualitative study using interviews and focus groups with stakeholders was undertaken to allow for an indepth exploration of views and perceptions about practicalities of, and strategies for, offering carrier screening for fragile X syndrome to the general population in healthcare settings. A total of 188 stakeholders took part including healthcare providers (n = 81), relatives of people with fragile X syndrome (n = 29), and members of the general community (n = 78). The importance of raising community awareness about screening and providing appropriate support for carriers was emphasized. There was a preference for preconception carrier screening and for providing people with the opportunity to make an informed decision about screening. Primary care was highlighted as a setting which would ensure screening is accessible; however, challenges of offering screening in primary care were identified including time to discuss screening, knowledge about the test and possible outcomes, and the health professionals' approach to offering screening. With the increasing availability of genetic carrier tests, it is essential that research now focuses on evaluating approaches for the delivery of carrier screening programs. Primary healthcare is perceived as an appropriate setting through which to access the target population, and raising awareness is essential to making genetic screening more accessible to the general community.

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“…Quality assessment of all studies using the Teutsch et al checklist 65 had been planned but, because of a lack of information in the included studies, it was not possible to use this checklist. 65 Instead, the EAG used a modified version of this checklist to assess the quality of the studies.…”

Section: Search Resultsmentioning

confidence: 99%

“…Data extraction included details of source population, number of samples, specific methods/platforms evaluated, number of positive samples and negative controls tested, as well as reported results. Quality assessment was informed by the checklist proposed by Teutsch et al 65 and included the following: l quality of description of test undertaken l range of sample/study population tested representative of routine use l definition of correct answer l reporting of test failures.…”

Section: Data Extraction and Quality Assessment Strategy: Analyticalmentioning

confidence: 99%

The clinical effectiveness and cost-effectiveness of the PROGENSA® prostate cancer antigen 3 assay and the Prostate Health Index in the diagnosis of prostate cancer: a systematic review and economic evaluation

Nicholson

Mahon

Boland

et al. 2015

Health Technol Assess

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BackgroundThere is no single definitive test to identify prostate cancer in men. Biopsies are commonly used to obtain samples of prostate tissue for histopathological examination. However, this approach frequently misses cases of cancer, meaning that repeat biopsies may be necessary to obtain a diagnosis. The PROGENSA®prostate cancer antigen 3 (PCA3) assay (Hologic Gen-Probe, Marlborough, MA, USA) and the Prostate Health Index (phi; Beckman Coulter Inc., Brea, CA, USA) are two new tests (a urine test and a blood test, respectively) that are designed to be used to help clinicians decide whether or not to recommend a repeat biopsy.ObjectiveTo evaluate the clinical effectiveness and cost-effectiveness of the PCA3 assay and the phi in the diagnosis of prostate cancer.Data sourcesMultiple publication databases and trial registers were searched in May 2014 (from 2000 to May 2014), including MEDLINE, EMBASE, The Cochrane Library, ISI Web of Science, Medion, Aggressive Research Intelligence Facility database, ClinicalTrials.gov, International Standard Randomised Controlled Trial Number Register and World Health Organization International Clinical Trials Registry Platform.Review methodsThe assessment of clinical effectiveness involved three separate systematic reviews, namely reviews of the analytical validity, the clinical validity of these tests and the clinical utility of these tests. The assessment of cost-effectiveness comprised a systematic review of full economic evaluations and the development of a de novo economic model.SettingThe perspective of the evaluation was the NHS in England and Wales.ParticipantsMen suspected of having prostate cancer for whom the results of an initial prostate biopsy were negative or equivocal.InterventionsThe use of the PCA3 score or phi in combination with existing tests (including histopathology results, prostate-specific antigen level and digital rectal examination), multiparametric magnetic resonance imaging and clinical judgement.ResultsIn addition to documents published by the manufacturers, six studies were identified for inclusion in the analytical validity review. The review identified issues concerning the precision of the PCA3 assay measurements. It also highlighted issues relating to the storage requirements and stability of samples intended for analysis using the phi assay. Fifteen studies met the inclusion criteria for the clinical validity review. These studies reported results for 10 different clinical comparisons. There was insufficient evidence to enable the identification of appropriate test threshold values for use in a clinical setting. In addition, the implications of adding either the PCA3 assay or the phi to clinical assessment were not clear. Furthermore, the addition of the PCA3 assay or the phi to clinical assessment plus magnetic resonance imaging was not found to improve discrimination. No published papers met the inclusion criteria for either the clinical utility review or the cost-effectiveness review. The results from the cost-effectiveness analyses indicated that using either the PCA3 assay or the phi in the NHS was not cost-effective.LimitationsThe main limitations of the systematic review of clinical validity are that the review conclusions are over-reliant on findings from one study, the descriptions of clinical assessment vary widely within reviewed studies and many of the reported results for the clinical validity outcomes do not include either standard errors or confidence intervals.ConclusionsThe clinical benefit of using the PCA3 assay or the phi in combination with existing tests, scans and clinical judgement has not yet been confirmed. The results from the cost-effectiveness analyses indicate that the use of these tests in the NHS would not be cost-effective.Study registrationThis study is registered as PROSPERO CRD42014009595.FundingThe National Institute for Health Research Health Technology Assessment programme.

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The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group

Cited by 566 publications

References 36 publications

Debating Clinical Utility

Debating Clinical Utility

“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

The clinical effectiveness and cost-effectiveness of the PROGENSA® prostate cancer antigen 3 assay and the Prostate Health Index in the diagnosis of prostate cancer: a systematic review and economic evaluation

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