Efficient Replication of over 180 Genetic Associations with Self-Reported Medical Data

Tung, Joyce Y.; Chuong, B.; Hinds, David A.; Kiefer, Amy K.; Macpherson, J. Michael; Chowdry, Arnab B.; Francke, Uta; Naughton, Brian; Mountain, Joanna L.; Wojcicki, Anne; Eriksson, Nicholas

doi:10.1371/journal.pone.0023473

Cited by 123 publications

(109 citation statements)

References 42 publications

(35 reference statements)

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“…Longitudinal survey data suggest that awareness and understanding may be increasing (Miller, 2004;Singer et al, 2008). The increased participation of the public in personal genomics activities, including research and direct-toconsumer genomic services (Eriksson et al, 2010;Do et al, 2011;Tung et al, 2011) may be due, in part, to the public's increased awareness and understanding of genetics.…”

Section: Introductionmentioning

confidence: 99%

Public Knowledge of and Attitudes Toward Genetics and Genetic Testing

Haga

Barry²,

Mills³

et al. 2013

Genetic Testing and Molecular Biomarkers

210

230

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Background: Variable health literacy and genetic knowledge may pose significant challenges to engaging the general public in personal genomics, specifically with respect to promoting risk comprehension and healthy behaviors. Methods: We are conducting a multistage study of individual responses to genomic risk information for Type 2 diabetes mellitus. A total of 300 individuals were recruited from the general public in Durham, North Carolina: 60% self-identified as White; 70% female; and 65% have a college degree. As part of the baseline survey, we assessed genetic knowledge and attitudes toward genetic testing. Results: Scores of factual knowledge of genetics ranged from 50% to 100% (average = 84%), with significant differences in relation to racial groups, the education level, and age. Scores were significantly higher on questions pertaining to the inheritance and causes of disease (mean score 90%) compared to scientific questions (mean score 77.4%). Scores on the knowledge survey were significantly higher than scores from European populations. Participants' perceived knowledge of the social consequences of genetic testing was significantly lower than their perceived knowledge of the medical uses of testing. More than half agreed with the statement that testing may affect a person's ability to obtain health insurance (51.3%) and 16% were worried about the consequences of testing for chances of finding a job. Conclusions: Despite the relatively high educational status and genetic knowledge of the study population, we find an imbalance of knowledge between scientific and medical concepts related to genetics as well as between the medical applications and societal consequences of testing, suggesting that more effort is needed to present the benefits, risks, and limitations of genetic testing, particularly, at the social and personal levels, to ensure informed decision making.

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Section: Introductionmentioning

confidence: 99%

Public Knowledge of and Attitudes Toward Genetics and Genetic Testing

Haga

Barry²,

Mills³

et al. 2013

Genetic Testing and Molecular Biomarkers

210

230

View full text Add to dashboard Cite

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“…However, if the expense of meticulous phenotyping is too great, greater power can be achieved by accepting a small error rate in much larger samples obtained with cheaper, minimal phenotyping. For example, using online questionnaires, a recent genetic study replicated hundreds of previously reported GWAS loci that were originally identified by studies using stricter measures (Tung et al, 2011). Thus, answers to 'Have you ever been diagnosed by a doctor with high cholesterol (over 200 mg/dl) or hypercholesterolemia?'…”

Section: Large-scale Clinical and Genetic Studiesmentioning

confidence: 82%

Dichoptic Viewing Methods for Binocular Rivalry Research: Prospects for Large-Scale Clinical and Genetic Studies

et al. 2013

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Binocular rivalry (BR) is an intriguing phenomenon that occurs when two different images are presented, one to each eye, resulting in alternation or rivalry between the percepts. The phenomenon has been studied for nearly 200 years, with renewed and intensive investigation over recent decades. The rate of perceptual switching has long been known to vary widely between individuals but to be relatively stable within individuals. A recent twin study demonstrated that individual variation in BR rate is under substantial genetic control, a finding that also represented the first report, using a large study, of genetic contribution for any post-retinal visual processing phenomenon. The twin study had been prompted by earlier work showing BR rate was slow in the heritable psychiatric condition, bipolar disorder (BD). Together, these studies suggested that slow BR may represent an endophenotype for BD, and heralded the advent of modern clinical and genetic studies of rivalry. This new focus has coincided with rapid advances in 3D display technology, but despite such progress, specific development of technology for rivalry research has been lacking. This review therefore compares different display methods for BR research across several factors, including viewing parameters, image quality, equipment cost, compatibility with other investigative methods, subject group, and sample size, with a focus on requirements specific to large-scale clinical and genetic studies. It is intended to be a resource for investigators new to BR research, such as clinicians and geneticists, and to stimulate the development of 3D display technology for advancing interdisciplinary studies of rivalry.

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“…Data being gathered by 23andMe shows a tremendous concordance between self-reported and clinically reported health information. 95 …”

Section: Validation Of Participant Populationmentioning

confidence: 99%