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Start Over Topic genetic testing Publication Year Range Last 10 years
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1. Unmet information needs of men with breast cancer and health professionals

Author

Pernilla C. Scheelings, Petra Duijveman, Arjen J. Witkamp, Anouk Pijpe, Eveline M. A. Bleiker, and Tom I. Bootsma

Subjects
Paper, Adult, Male, Coping (psychology), medicine.medical_specialty, information needs, mixed‐methods, Health Personnel, Information Seeking Behavior, Experimental and Cognitive Psychology, Information needs, Disease, Computer-assisted web interviewing, male breast cancer, Breast Neoplasms, Male, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Patient Education as Topic, health professionals, Surveys and Questionnaires, Adaptation, Psychological, medicine, cancer, Humans, 030212 general & internal medicine, skin and connective tissue diseases, Genetic testing, Health Services Needs and Demand, medicine.diagnostic_test, business.industry, Focus Groups, Middle Aged, medicine.disease, Focus group, Psychiatry and Mental health, 030220 oncology & carcinogenesis, Family medicine, Papers, oncology, Quality of Life, website, business, Psychosocial
Abstract

Objective Male breast cancer (MBC) is rare. Information about breast cancer is usually designed for female patients. However, in males this disease and some side effects differ from its female counterpart. Therefore, there is a need for male‐specific information. The aim was to assess unmet information needs of (a) MBC patients and (b) health professionals. Methods Dutch MBC patients (diagnosed between 2011 and 2016 in 21 hospitals), patient advocates and partners were invited to participate in focus groups and/or complete a paper‐based questionnaire on information needs. In addition, an online questionnaire on information needs was sent to health professionals involved in MBC patient care. Results In three focus groups with MBC patients (N = 12) and partners (N = 2) the following unmet information themes were identified: patients' experiences/photographs, symptoms, (delay of) diagnosis, treatments, side effects, follow‐up, psychological impact/coping, genetics and family, research and raising awareness. 77 of 107 MBC patients (72%) completed the questionnaire: most patients lacked information about acute (65%) or late (56%) side effects, particularly sexual side effects. Among health professionals, 110 of 139 (79%) had searched for MBC‐related information, specifically: patient information, anti‐hormonal therapy, genetic testing, research, and psychosocial issues. Conclusions Unmet information needs in MBC patients and health professionals were identified. Specific information on MBC should be developed to improve timely diagnosis, quality of life, treatment, and survival. A targeted website is an ideal tool to meet these needs. Therefore, we integrated these results into a user‐centered design to develop an informative website, www.mannenmetborstkanker.nl.

Published
2020

2. Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Author

Judith S. Verhoeven, In Y. Tan, Joost Nicolai, Rolph Pfundt, Han G. Brunner, Erik-Jan Kamsteeg, Marjolein H. Willemsen, Mariel W. A. Teunissen, Helenius J. Schelhaas, Jeroen Schoots, Alexander P.A. Stegmann, Eric Smeets, Jans S. van Ool, Petra van Mierlo, Rob P.W. Rouhl, Helger G. Yntema, Francesca M. Snoeijen-Schouwenaars, Hilde M. H. Braakman, MUMC+: MA Med Staf Spec Neurologie (9), MUMC+: DA KG Polikliniek (9), Klinische Neurowetenschappen, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: MA AIOS Neurologie (9), MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), and MUMC+: DA Pat Cytologie (9)

Subjects
Male, 0301 basic medicine, Pediatrics, CHILDREN, Current Literature in Clinical Science, GRIN2A, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Epilepsy, 0302 clinical medicine, Epidemiology, Intellectual disability, EPIDEMIOLOGY, Exome, Child, health care economics and organizations, Exome sequencing, seizures, next generation sequencing, education.field_of_study, learning disability, ENCEPHALOPATHY, Middle Aged, Neurology, Child, Preschool, Medical genetics, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Adolescent, GENETICS, Population, Young Adult, 03 medical and health sciences, genetic diagnosis, All institutes and research themes of the Radboud University Medical Center, PEOPLE, Intellectual Disability, Exome Sequencing, medicine, Humans, Genetic Testing, education, Aged, Retrospective Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, medicine.disease, 030104 developmental biology, DE-NOVO MUTATIONS, LAMOTRIGINE, Etiology, PAPER, Neurology (clinical), business, GENOMICS, 030217 neurology & neurosurgery
Abstract

Diagnostic Exome Sequencing in 100 Consecutive Patients With Both Epilepsy and Intellectual Disability Snoeijen-Schouwenaars FM, van Ool JS, Verhoeven JS, et al. Epilepsia. 2019;60(1):155-164. doi:10.1111/epi.14618. Epub December 7, 2018. PMID: 30525188.Objective:Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure control is often difficult. Identification of the underlying etiology in this patient group is important for daily clinical care. We assessed the diagnostic yield of whole-exome sequencing (WES). In addition, we evaluated which clinical characteristics influence the likelihood of identifying a genetic cause and we assessed the potential impact of the genetic diagnosis on (antiepileptic) treatment strategy.Methods:One hundred patients with both unexplained epilepsy and (borderline) ID (intelligence quotient ≤85) were included. All patients were evaluated by a clinical geneticist, a (pediatric) neurologist, and/or a specialist ID physician. Whole-exome sequencing analysis was performed in 2 steps. In step 1, analysis was restricted to the latest versions of ID and/or epilepsy gene panels. In step 2, exome analysis was extended to all genes (so-called full exome analysis). The results were classified according to the American College of Medical Genetics and Genomics guidelines. Results: In 58 patients, the diagnostic WES analysis reported one or more variant(s). In 25 of the 100 patients, these were classified as (likely) pathogenic, in 24 patients as variants of uncertain significance, and in the remaining patients the variant was most likely not related to the phenotype. In 10 (40%) of 25 patients with a (likely) pathogenic variant, the genetic diagnosis might have an impact on the treatment strategy in the future.Significance:This study illustrates the clinical diagnostic relevance of WES for patients with both epilepsy and ID. It also demonstrates that implementing WES diagnostics might have impact on the (antiepileptic) treatment strategy in this population. Confirmation of variants of uncertain significance in (candidate) genes may further increase the yield. Diagnostic Yield of Genetic Tests in Epilepsy: A Meta-Analysis and Cost-Effectiveness Study Sánchez Fernández I, Loddenkemper T, Gaínza-Lein M, Sheidley BR, Poduri A. Neurology. 2019. Epub ahead of print. pii: 10.1212/WNL.0000000000006850. doi:10.1212/WNL.0000000000006850. PMID: 30610098 Objective:To compare the cost-effectiveness of genetic testing strategies in patients with epilepsy of unknown etiology.Methods:This meta-analysis and cost-effectiveness study compared strategies involving 3 genetic tests: chromosomal microarray (CMA), epilepsy panel (EP) with deletion/duplication testing, and whole-exome sequencing (WES) in a cost-effectiveness model, using “no genetic testing”“ as a point of comparison.Results:Twenty studies provided information on the diagnostic yield of CMA (8 studies), EP (9 studies), and WES (6 studies). The diagnostic yield was highest for WES: 0.45 (95% confidence interval [CI]: 0.33-0.57; 0.32 [95% CI: 0.22-0.44] adjusting for potential publication bias), followed by EP: 0.23 (95% CI: 0.18-0.29) and CMA: 0.08 (95% CI: 0.06-0.12). The most cost-effective test was WES with an incremental cost-effectiveness ratio (ICER) of US$15 000/diagnosis. However, after adjusting for potential publication bias, the most cost-effective test was EP (ICER: US$15 848/diagnosis) followed by WES (ICER: US$34 500/diagnosis). Among combination strategies, the most cost-effective strategy was WES, then if nondiagnostic, EP, then if nondiagnostic, CMA (ICER: US$15 336/diagnosis); although adjusting for potential publication bias, the most cost-effective strategy was EP ± CMA ± WES (ICER: US$18 385/diagnosis). Although the cost-effectiveness of individual tests and testing strategies overlapped, CMA was consistently less cost-effective than WES and EP.Conclusion:Whole-exome sequencing and EP are the most cost-effective genetic tests for epilepsy. Our analyses support for a broad population of patients with unexplained epilepsy, starting with these tests. Although less expensive, CMA has lower yield, and its use as the first-tier test is thus not supported from a cost-effectiveness perspective.

Published
2019

3. Patient preference: a comparison of electronic patient-completed questionnaires with paper among cancer patients

Author

M.C. Brown, Petra Martin, Christine Lam, Chongya Niu, Wei Xu, Mary Mahler, M. Otsuka, Dan Pringle, H. Hon, Sinead Cuffe, Jodie Villeneuve, Rebecca Charow, Osvaldo Espin-Garcia, Geoffrey Liu, Shabbir M.H. Alibhai, Jodie Jenkinson, and Ravi M. Shani

Subjects
Adult, Male, Paper, medicine.medical_specialty, Multivariate analysis, 020205 medical informatics, education, Alternative medicine, 02 engineering and technology, Affect (psychology), Young Adult, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, Surveys and Questionnaires, 0202 electrical engineering, electronic engineering, information engineering, medicine, Humans, Aged, Genetic testing, Aged, 80 and over, Internet, medicine.diagnostic_test, Computers, business.industry, Significant difference, Age Factors, Cancer, Patient Preference, Middle Aged, medicine.disease, Patient preference, Preference, Oncology, Computers, Handheld, 030220 oncology & carcinogenesis, Family medicine, Multivariate Analysis, Female, Comprehension, business
Abstract

In this study, we compared cancer patients preference for computerised (tablet/web-based) surveys versus paper. We also assessed whether the understanding of a cancer-related topic, pharmacogenomics is affected by the survey format, and examined differences in demographic and medical characteristics which may affect patient preference and understanding. Three hundred and four cancer patients completed a tablet-administered survey and another 153 patients completed a paper-based survey. Patients who participated in the tablet survey were questioned regarding their preference for survey format administration (paper, tablet and web-based). Understanding was assessed with a ‘direct’ method, by asking patients to assess their understanding of genetic testing, and with a ‘composite’ score. Patients preferred administration with tablet (71%) compared with web-based (12%) and paper (17%). Patients

Published
2015