Purpose The promise of personalized genomics for common complex diseases depends, in part, on the ability to predict genetic risks on the basis of single nucleotide polymorphisms. We examined and compared the methods of three companies (23andMe, deCODEme, and Navigenics) that have offered direct-to-consumer personal genome testing. Methods We simulated genotype data for 100,000 individuals on the basis of published genotype frequencies and predicted disease risks using the methods of the companies. Predictive ability for six diseases was assessed by the AUC. Results AUC values differed among the diseases and among the companies. The highest values of the AUC were observed for age related macular degeneration, celiac disease, and Crohn disease. The largest difference among the companies was found for celiac disease: the AUC was 0.73 for 23andMe and 0.82 for deCODEme. Predicted risks differed substantially among the companies as a result of differences in the sets of single nucleotide polymorphisms selected and the average population risks selected by the companies, and in the formulas used for the calculation of risks. Conclusion Future efforts to design predictive models for the genomics of common complex diseases may benefit from understanding the strengths and limitations of the predictive algorithms designed by these early companies.
PurposeDevelopment of innovative drugs for melanoma is occurring rapidly. Incremental gains in overall survival amongst innovative products may be difficult to measure in clinical trials, and their use may be associated with increased toxicity profiles. Therefore, HTA agencies increasingly require information on HRQoL for the assessment of such drugs. This study explored the feasibility of social media to assess patient perspectives on HRQoL in melanoma, and whether current cancer- and melanoma-specific HRQoL questionnaires represent these perspectives.MethodsA survey was distributed on the social media channels of Melanoma Patient Network Europe to assess melanoma patients’ perspectives regarding HRQoL. Two researchers independently conducted content analysis to identify key themes, which were subsequently compared to questions from one current cancer-specific and two melanoma-specific HRQoL questionnaires (i.e. EORTC QLQ-C30, EORTC QLQ-MEL38, FACT-M).ResultsIn total, 72 patients and 17 carers completed the survey. Patients indicated that family, having a normal life, and enjoying life were the three most important aspects of HRQoL for them. Carers indicated that being capable, having manageable adverse events, and being pain-free were the three most important aspects of HRQoL for patients. Respondents seem to find some questions from HRQoL questionnaires relevant (e.g. ‘Have you felt able to carry on with things as normal?’) and others less relevant (e.g. ‘Have you had swelling near your melanoma site?’). Additionally, wording may differ between patients and HRQoL questionnaires, whereby patients generally use a more positive tone.ConclusionsSocial media may provide a valuable tool in assessing patient perspectives regarding HRQoL. However, differences seem to emerge between patient and carer perspectives. Additionally, patient perspectives did not seem to fully correlate to questions posed in cancer- (i.e. EORTC QLQ-C30) and melanoma-specific (i.e. EORTC QLQ-MEL38, FACT-M) HRQoL questionnaires examined.Electronic supplementary materialThe online version of this article (10.1186/s12955-018-1047-z) contains supplementary material, which is available to authorized users.
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
BackgroundAn element of health technology assessment constitutes assessing the clinical effectiveness of drugs, generally called relative effectiveness assessment. Little real-world evidence is available directly after market access, therefore randomized controlled trials are used to obtain information for relative effectiveness assessment. However, there is growing interest in using real-world data for relative effectiveness assessment. Social media may provide a source of real-world data.ObjectiveWe assessed the extent to which social media-generated health data has provided insights for relative effectiveness assessment.MethodsAn explorative literature review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines to identify examples in oncology where health data were collected using social media. Scientific and grey literature published between January 2010 and June 2016 was identified by four reviewers, who independently screened studies for eligibility and extracted data. A descriptive qualitative analysis was performed.ResultsOf 1032 articles identified, eight were included: four articles identified adverse events in response to cancer treatment, three articles disseminated quality of life surveys, and one study assessed the occurrence of disease-specific symptoms. Several strengths of social media-generated health data were highlighted in the articles, such as efficient collection of patient experiences and recruiting patients with rare diseases. Conversely, limitations included validation of authenticity and presence of information and selection bias.ConclusionsSocial media may provide a potential source of real-world data for relative effectiveness assessment, particularly on aspects such as adverse events, symptom occurrence, quality of life, and adherence behavior. This potential has not yet been fully realized and the degree of usefulness for relative effectiveness assessment should be further explored.
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