BackgroundDirect-to-consumer (DTC) personal genotyping services are beginning to be adopted by educational institutions as pedagogical tools for learning about human genetics. However, there is little known about student reactions to such testing. This study investigated student experiences and attitudes towards DTC personal genome testing.MethodsIndividual interviews were conducted with students who chose to undergo personal genotyping in the context of an elective genetics course. Ten medical and graduate students were interviewed before genotyping occurred, and at 2 weeks and 6 months after receiving their genotype results. Qualitative analysis of interview transcripts assessed the expectations and experiences of students who underwent personal genotyping, how they interpreted and applied their results; how the testing affected the quality of their learning during the course, and what were their perceived needs for support.ResultsStudents stated that personal genotyping enhanced their engagement with the course content. Although students expressed skepticism over the clinical utility of some test results, they expressed significant enthusiasm immediately after receiving their personal genetic analysis, and were particularly interested in results such as drug response and carrier testing. However, few reported making behavioral changes or following up on specific results through a healthcare provider. Students did not report utilizing genetic counseling, despite feeling strongly that the 'general public' would need these services. In follow-up interviews, students exhibited poor recall on details of the consent and biobanking agreements, but expressed little regret over their decision to undergo genotyping. Students reported mining their raw genetic data, and conveyed a need for further consultation support in their exploration of genetic variants.ConclusionsPersonal genotyping may improve students' self-reported motivation and engagement with course material. However, consultative support that is different from traditional genetic counseling will be necessary to support students. Before incorporating personal genotyping into coursework, institutions should lead multi-disciplinary discussion to anticipate issues and incorporate teaching mechanisms that engage the ethical, legal, and social implications of personal genotyping, including addressing those found in this study, to go beyond what is offered by commercial providers.
Crowd-source assessment of resident applicant surgical skills has good inter-rater agreement with expert physician raters but not with a computer-based objective motion metrics software assessment. Overall applicant rank was affected to some degree by the crowd performance rating.
Little is known about how consumers of direct-to-consumer personal genetic services share personal genetic risk information. In an age of ubiquitous online networking and rapid development of social networking tools, understanding how consumers share personal genetic risk assessments is critical in the development of appropriate and effective policies. This exploratory study investigates how consumers share personal genetic information and attitudes towards social networking behaviors. Methods: Adult participants aged 23 to 72 years old who purchased direct-to-consumer genetic testing from a personal genomics company were administered a web-based survey regarding their sharing activities and social networking behaviors related to their personal genetic test results. Results: 80 participants completed the survey; of those, 45% shared results on Facebook and 50.9% reported meeting or reconnecting with more than 10 other individuals through the sharing of their personal genetic information. For help interpreting test results, 70.4% turned to Internet websites and online sources, compared to 22.7% who consulted their healthcare providers. Amongst participants, 51.8% reported that they believe the privacy of their personal genetic information would be breached in the future. Conclusion: Consumers actively utilize online social networking tools to help them share and interpret their personal genetic information. These findings suggest a need for careful consideration of policy recommendations in light of the current ambiguity of regulation and oversight of consumer initiated sharing activities.
ObjectiveTo review the current definitions, terminology, epidemiology and aetiology of detrusor underactivity (DU), with specific attention to the diagnostic criteria in use. In addition, we address the relation and the overlap between DU and bladder outlet obstruction (BOO). In this mini-review, we hope to help identify DU patients and facilitate structured clinical evaluation and research.MethodsWe searched the English literature using ScienceDirect and PubMed for relevant articles. We used the following terms: ‘detrusor underactivity’, ‘underactive bladder’, ‘post voiding residual’, ‘post micturition residual’, ‘acontractile bladder’, ‘detrusor failure’, and ‘detrusor areflexia’.ResultDU is one of the most common conditions causing lower urinary tract symptoms (LUTS). Unfortunately, it is also the most poorly understood bladder dysfunction with scant research. To our knowledge there is no clear definition and no non-invasive method to characterise this important clinical condition. DU may result from the normal ageing process; however, it has multiple aetiologies including neurogenic and myogenic dysfunction. In many cases the symptoms of DU are similar to those of BOO and it usually requires invasive urodynamic study (UDS) for diagnosis to differentiate the two diagnoses. A number of diagnostic tests may be used including: UDS testing, the Schafer pressure/flow nomogram, linear passive urethral resistance relation, Watts factor, and the bladder contractility index. Of these, UDS testing is the most practical as it determines both the maximum urinary flow rate and the pressure exerted by the detrusor muscle relative to the maximal flow of urine, allowing for precise characterisation of detrusor function.ConclusionCurrently, the diagnosis of DU is based on invasive urodynamic parameters as defined by the International Continence Society in 2002. There is no consensus for the definition of DU prior to 2002. As there is significant overlap between the symptoms of DU and BOO, it is difficult to diagnose DU clinically.
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