Genetic Testing: Practical, Ethical, and Counseling Considerations

Ensenauer, Regina; Michels, Virginia V.; Reinke, Shanda S.

doi:10.1016/s0025-6196(11)62960-1

Cited by 50 publications

(10 citation statements)

References 55 publications

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“…Such experts assert that current tests being offered have not been validated in diverse populations and that more research is needed before these tests are used by consumers 8, 9. Many researchers have also raised concerns about consumers interpreting complex genetic information without the involvement of a healthcare provider who has specialized knowledge of genetics, given the potential for misinterpretation of disease risks 10, 8, 11, 12…”

Section: Introductionmentioning

confidence: 99%

Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers

Lachance

Erby

Ford

et al. 2010

Genetics in Medicine

101

119

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Purpose-As direct to consumer (DTC) genetic testing becomes more available, a diverse group of consumers, including those with limited health literacy, may consider testing. In light of concerns raised about DTC genetic testing, this study sought to critically examine whether the informational content, literacy demands, and usability of health-related DTC websites met existing recommendations.Methods-A content analysis was performed on 29 health-related DTC websites. Two coders independently evaluated each website for informational content (e.g., benefits, limitations), literacy demands (e.g., reading level), and usability (e.g., ease of navigation).Results-Most sites presented health conditions and some markers for which they tested, benefits of testing, a description of the testing process, and their privacy policy. Fewer cited scientific literature, explained test limitations or provided an opportunity to consult a health professional. Key informational content was difficult to locate on most sites. Few sites gave sample disease risk estimates, or used common language and explained technical terms consistently. Average reading level was grade 15.Conclusion-The quality of informational content, literacy demands, and usability across health-related DTC websites varied widely. Many users would struggle to find and understand the important information. In order for consumers to better understand the content on these sites and evaluate the meaning of the tests for their health, sites should lower the demands placed on users by distilling and prioritizing the key informational content while simultaneously attending to the reading level and usability elements. In the absence of regulation compelling such changes, government agencies or professional organizations may need to increase consumer and provider awareness of these issues.

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Section: Introductionmentioning

confidence: 99%

Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers

Lachance

Erby

Ford

et al. 2010

Genetics in Medicine

101

119

View full text Add to dashboard Cite

show abstract

“…Given the complex etiology of common diseases, critics have expressed concern that the public will not understand genomic information without the assistance of a health care provider and will be unable to make informed decisions about taking genetic susceptibility tests [7,9,10]. Of particular concern is whether individuals can understand the limitations of the information generated by these tests and appreciate what cannot be learned from such tests [7].…”

Section: Introductionmentioning

confidence: 99%

Consumers’ Use of Web-Based Information and Their Decisions About Multiplex Genetic Susceptibility Testing

Kaphingst¹,

McBride²,

Wade³

et al. 2010

J Med Internet Res

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BackgroundFew data exist to inform concerns raised by online direct-to-consumer marketing of genetic susceptibility tests, such as those offered by commercial entities like 23andme, Navigenics, and DNA Direct. The Multiplex Initiative, a population-based study of healthy adults, provides the first opportunity to evaluate how use of a Web-based decision tool that conveyed information about a genetic susceptibility test influenced individuals’ test decisions.ObjectiveTo inform the ongoing debate over whether individuals offered genetic susceptibility testing without the involvement of a health care provider (eg, through direct-to-consumer testing) can make informed decisions about testing when guided by online decision aids.MethodsParticipants were 526 members of a large health maintenance organization aged 25 to 40 years old who visited a study website. Multivariate logistic regression models were tested to examine the association of website usage with downstream test decisions.ResultsParticipants viewed an average of 2.9 of the 4 pages introducing the multiplex test, 2.2 of the 8 pages describing the health conditions, and 3.2 of the 15 pages describing the genes. For each page viewed, participants were more likely to describe their decision-making as easy (odds ratio [OR] 1.04, 95% confidence interval [CI] 1.01-1.07) and to decide to be tested (OR 1.08, 95% CI 1.05-1.11).ConclusionsHealthy adults in this study perceived Web-based genomic information presented using evidence-based communications approaches to be helpful in supporting both decisions to test and not to test. Continued research is needed to ensure that these results generalize to target groups with lower literacy and less Internet savvy.

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“…Medical genetics involves diagnosis, management, and determining risk of hereditary disorders [1], [2]. The genotype:phenotype correlation of gene variants in disease is a major component of medical genetics.…”

Section: Introductionmentioning

confidence: 99%

Predicting Phenotypic Severity of Uncertain Gene Variants in the RET Proto-Oncogene

et al. 2011

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Although reported gene variants in the RET oncogene have been directly associated with multiple endocrine neoplasia type 2 and hereditary medullary thyroid carcinoma, other mutations are classified as variants of uncertain significance (VUS) until the associated clinical phenotype is made clear. Currently, some 46 non-synonymous VUS entries exist in curated archives. In the absence of a gold standard method for predicting phenotype outcomes, this follow up study applies feature selected amino acid physical and chemical properties feeding a Bayes classifier to predict disease association of uncertain gene variants into categories of benign and pathogenic. Algorithm performance and VUS predictions were compared to established phylogenetic based mutation prediction algorithms. Curated outcomes and unpublished RET gene variants with known disease association were used to benchmark predictor performance. Reliable classification of RET uncertain gene variants will augment current clinical information of RET mutations and assist in improving prediction algorithms as knowledge increases.

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Genetic Testing: Practical, Ethical, and Counseling Considerations

Cited by 50 publications

References 55 publications

Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers

Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers

Consumers’ Use of Web-Based Information and Their Decisions About Multiplex Genetic Susceptibility Testing

Predicting Phenotypic Severity of Uncertain Gene Variants in the RET Proto-Oncogene

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