Next-Generation Testing for Cancer Risk: Perceptions, Experiences, and Needs Among Early Adopters in Community Healthcare Settings.
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ABSTRACT:
SUBMITTER: Blazer KR
PROVIDER: S-EPMC4677543 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Publications
Next-Generation Testing for Cancer Risk: Perceptions, Experiences, and Needs Among Early Adopters in Community Healthcare Settings.
Blazer Kathleen R KR Nehoray Bita B Solomon Ilana I Niell-Swiller Mariana M Culver Julie O JO Uman Gwen C GC Weitzel Jeffrey N JN
Genetic testing and molecular biomarkers 20151105 12
<h4>Background</h4>Advances in next-generation sequencing (NGS) technologies are driving a shift from single-gene to multigene panel testing for clinical genetic cancer risk assessment (GCRA). This study explored perceptions, experiences, and challenges with NGS testing for GCRA among U.S. community-based clinicians.<h4>Methods</h4>Surveys delivered at initial and 8-month time points, and 12-month tracking of cases presented in a multidisciplinary web-based case conference series, were conducted ...[more]
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Project description:India's elderly population is rising at an unprecedented rate, with a majority living in rural areas. Health challenges associated with ageing, changing social networks and limited public health infrastructure are issues faced by the elderly and caregivers. We examined perceptions of health needs of the elderly across local stakeholders in an urbanizing rural area.The qualitative study was conducted among participants in the Andhra Pradesh Children and Parents Study (APCAPS) site in Rangareddy district, Telangana. We collected data using focus group discussions and interviews among communities (n = 6), health providers (n = 9) and administrators (n = 6). We assessed stakeholders' views on the influence of urbanization on health issues faced and interventions for alleviating these challenges. We used a conceptual-analytical model to derive themes and used an inductive approach to organizing emerging codes as per a priori themes. These were organized as per thematic groups and ranked by different authors in order of importance. Bronfebrenner's theory was used to understand stakeholder perspectives and suggest interventions within four identified spheres of influence - individual, household, community and services.Stakeholders reported frailty, lack of transport and dependence on others as factors impacting health access of the elderly. Existing public health systems were perceived as overburdened and insensitive towards the elderly. Urbanization was viewed positively, but road accidents, crime and loneliness were significant concerns. Interventions suggested by stakeholders included health service outreach, lifestyle counseling, community monitoring of healthcare and engagement activities.We recommend integrating outreach services and lifestyle counseling within programs for care of the elderly. Community institutions can play an important role in the delivery and monitoring of health and social services for the elderly.
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Project description:Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, with 52 causative genes known to date. Here, we developed a comprehensive next-generation sequencing (NGS) approach for the clinical molecular diagnostics of RP. All known inherited retinal disease genes (n = 111) were captured and simultaneously analyzed using NGS in 100 RP patients without a molecular diagnosis. A systematic data analysis pipeline was developed and validated to prioritize and predict the pathogenicity of all genetic variants identified in each patient, which enabled us to reduce the number of potential pathogenic variants from approximately 1,200 to zero to nine per patient. Subsequent segregation analysis and in silico predictions of pathogenicity resulted in a molecular diagnosis in 36 RP patients, comprising 27 recessive, six dominant, and three X-linked cases. Intriguingly, De novo mutations were present in at least three out of 28 isolated cases with causative mutations. This study demonstrates the enormous potential and clinical utility of NGS in molecular diagnosis of genetically heterogeneous diseases such as RP. De novo dominant mutations appear to play a significant role in patients with isolated RP, having major implications for genetic counselling.
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Project description:Microsatellite instability (MSI) is a useful marker for risk assessment, prediction of chemotherapy responsiveness and prognosis in patients with colorectal cancer. Here, we describe a next generation sequencing approach for MSI testing using the MiSeq platform. Different from other MSI capturing strategies that are based on targeted gene capture, we utilize "deep resequencing", where we focus the sequencing on only the microsatellite regions of interest. We sequenced a series of 44 colorectal tumours with normal controls for five MSI loci (BAT25, BAT26, BAT34c4, D18S55, D5S346) and a second series of six colorectal tumours (no control) with two mononucleotide loci (BAT25, BAT26). In the first series, we were able to determine 17 MSI-High, 1 MSI-Low and 26 microsatellite stable (MSS) tumours. In the second series, there were three MSI-High and three MSS tumours. Although there was some variation within individual markers, this NGS method produced the same overall MSI status for each tumour, as obtained with the traditional multiplex PCR-based method.
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Project description:BACKGROUND:Healthcare services are facing extensive challenges due to the increased proportion of elderly persons and persons with chronic disease. Technology enabled care (TEC) is a collective term for telecare, telehealth, telemedicine, mobile (m)-, digital- and electronic (e) health services. TEC is increasingly seen as a solution to many of the challenges facing the health sector. Patient perspectives may provide a useful evaluation tool for new healthcare technologies that have limited clinical data to support their effectiveness. More studies need to be done to better understand the acceptance of technology in healthcare. This review aim to summarize empirical studies exploring patient experiences with TEC. Findings in this study can be used to better understand what is needed to develop, implement and improve such services. METHODS:Systematic searches were conducted in the Pubmed, Psycinfo, Cinahl, Embase, Cochrane systematic reviews and Cochrane clinical trials databases. These studies were systematically reviewed using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, subjected to quality appraisals using the Critical Appraisal Skills Program (CASP), and synthesized via integrative analysis. RESULTS:After removal of duplicates, languages other than English, and non-scientific records, 4087 titles and abstracts were screened. After assessment against inclusion and exclusion criteria, 69 records were screened in full-text, and underwent quality appraisal. 21 records were included in the integrative analysis. Patients' experiences with TEC related to 1) technological features, namely functionality and appearance, and 2) evolving independence, namely empowerment, autonomy and security. Technological challenges lead to frustrations and negative experiences, while a stigmatizing appearance lead to patients not using the solution. Through the use of TECs, patients felt more empowered, learning about their condition, increasing awareness to their symptoms and treatment, and feeling more safe and self-efficient. Patient participation was seen as a central aspect of the development of the TECT, as well as when using it. CONCLUSION:This review deepens the understanding of patients' experiences with technology enabled care solutions. Patients' experiences not only relate to the practical/technical element of the device or solution, but to how this impact on their everyday life. Patient participation in development and planned use of such solutions should be considered an integral part in healthcare quality initiatives.
| S-EPMC7446109 | biostudies-literature