Enhancing genomic laboratory reports from the patients' view: A qualitative analysis.
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ABSTRACT:
SUBMITTER: Stuckey H
PROVIDER: S-EPMC4744953 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:This study reports on the responses of physicians who reviewed provider and patient versions of a genomic laboratory report designed to communicate results of whole genome sequencing. Semi-structured interviews addressed concept communication, elements, and format of example genome reports. Analysis of the coded transcripts resulted in recognition of three constructs around communication of genome sequencing results: (1) Providers agreed that whole genomic sequencing results are complex and they welcomed a report that provided supportive interpretation information to accompany sequencing results; (2) Providers strongly endorsed a report that included active clinical guidance, such as reference to practice guidelines, if available; and (3) Providers valued the genomic report as a resource that would serve as the basis to facilitate communication of genome sequencing results with their patients and families. Providers valued both versions of the report, though they affirmed the need for a provider-oriented report. Critical elements of the report included clear language to explain the result, as well as consolidated yet comprehensive prognostic information with clear guidance over time for the clinical care of the patient. Most importantly, it appears a report with this design has the potential not only to return results but also serves as a communication tool to help providers and patients discuss and coordinate care over time.
| S-EPMC5067598 | biostudies-literature
Project description:PurposeTo assess clinical chromosomal microarray (CMA) genomic testing reports for the following: (a) usage of reporting elements consistent with 2011 ACMG guidelines and other elements identified in the primary literature, (b) information quality, and (c) readability.MethodsWe retrospectively analyzed genomic testing reports from 2011 to 2016 provided to, or by our laboratory to aid in clinical detection and interpretation of copy number variants. Analysis was restricted to the following sections: interpretation, recommendations, limitations, and citations. Analysis included descriptive characteristics, reporting elements, reading difficulty using the Simple Measure of Gobbledygook (SMOG), and quality ratings using a subset of questions adapted from the DISCERN-Genetics questionnaire.ResultsThe analysis included 44 unique reports from 26 laboratories comprising four groups: specialty laboratories (SL; N = 9), reference laboratories (RL; N = 12), hospital laboratories (HL; N = 10), and university-based laboratories (UL; N = 13). There were 23 abnormal/pathogenic reports and 21 of uncertain/unknown significance. Nine laboratories did not include one or more pieces of information based on ACMG guidelines; only one of ten laboratories reported condition-specific management/treatment information when available and relevant. Average quality ratings and readability scores were not significantly different between laboratory types or result classification.ConclusionsReporting practices for most report elements varied widely; however, readability and quality did not differ significantly between laboratory types. Management and treatment information, even for well-known conditions, are rarely included. Effectively communicating test results may be improved if certain reporting elements are incorporated. Recommendations to improve laboratory reports are provided.
| S-EPMC6625363 | biostudies-literature
Project description:Background: Registered Reports (RRs) could be a way to increase the quality of scientific research and literature, such as by reducing publication bias and increasing the rigour of study designs. These potential benefits have led to Registered Report funding partnerships (RRFPs or partnerships for short) between research funders and academic journals who collaborate to encourage researchers to publish RRs. In this study we investigated the research question: "What are the experiences of the stakeholders (authors, reviewers, journal editors, funders) in the various partnership models?". Our companion paper addresses a related, but separate, research question. Methods: We conducted a thematic analysis of 32 semi-structured interviews with stakeholders (funders, editors, authors, reviewers, matchmakers) from six partnerships. Results: Interviewees had highly variable perceptions and experiences, reflecting the complex and nuanced impacts of partnerships. We identified 6 themes: "Importance of communication with authors and reviewers", "Influence on study design", "Appropriateness of partners", "Potential to reduce publication bias", "Impact on reviewer workload", and "Insufficient evidence". Conclusions: This was the first investigation into these novel initiatives. We hope that our findings can benefit and shape current and future partnerships.
| S-EPMC8672223 | biostudies-literature
Project description:IntroductionSeveral new treatment modalities are being developed for lysosomal storage disorders (LSDs), including gene therapy. As the currently available treatment options and their influence on disease progression differ greatly within the spectrum of LSDs, willingness to undergo gene therapy might vary among patients with LSDs and/or their representatives. The width of the LSD spectrum is illustrated by the differences between type 1 Gaucher disease, Fabry disease and Mucopolysaccharidosis type III (MPS III). For type 1 Gaucher and Fabry disease several therapies are available, resulting in a near normal or improved, but individually varying, prognosis. No treatment options are available for MPS III.AimTo identify factors influencing patients' and/or their representatives' decisions regarding undergoing gene therapy.MethodsFocus group discussions and semi-structured interviews were conducted with patients with type 1 Gaucher disease, Fabry disease and MPS III. Parents of MPS III patients were included as patients' representatives.ResultsNine Gaucher patients, 23 Fabry patients, two adult MPS III patients and five parents of MPS III patients participated in the study. The five main themes that arose were: outcome of gene therapy, risks and side effects, burden of gene therapy treatment, current situation and ethical aspects. Participants' views ranged from hesitance to eagerness to undergo gene therapy, which seemed to be mostly related to disease severity and currently available treatment options. Severe disease, limited treatment options and limited effectiveness of current treatment augmented the willingness to choose gene therapy. Gaucher and Fabry patients deemed the burden of treatment important. Fabry and MPS III patients and parents considered outcome important, suggesting hope for improvement. When asked to rank the factors discussed in the focus group discussions, Gaucher patients ranked outcome low, which could indicate a more cautious attitude towards gene therapy.ConclusionThis study underlines the importance of exploring patients' needs and expectations before using limited resources in the development of therapies for patient groups of which a significant subset may not be willing to undergo that specific therapy.
| S-EPMC9587648 | biostudies-literature
Project description:BackgroundIntimate partner violence (IPV) is a prevalent public health problem that affects millions of families. Much of what is known about IPV comes from quantitative studies that often "count" acts of IPV without exploring in depth the circumstances surrounding the violence, thereby leaving critical questions unanswered; existing qualitative studies tend to focus solely on women's perspectives. There is a dearth of dyadic qualitative research exploring the context of IPV in families with children, thus hindering the development of effective interventions for families experiencing IPV.MethodsSeven heterosexual couples were recruited from a University-based family therapy clinic to participate in qualitative interviews. Couples were eligible if they had experienced severe verbal or any physical aggression during the past 4 months; had ? one child living in the household; were English-speaking; and were ? 18. Each individual was interviewed separately. Key topics explored included specific types of violence used by men and women; primary triggers and the context surrounding aggressive disagreements; degree to which the child(ren) were exposed; and perceived consequences for adults and children.ResultsAll couples listed household responsibilities and parenting as key IPV triggers. Couples with infants reported that parenting disagreements were particularly heated, with women using aggression due to frustration about their partners' lack of support. Couples also described substance use, wanting to be heard, and prior violence histories as triggers or as the background context for IPV episodes. Children were present during IPV and often intervened in conflicts involving severe violence. Parents' perceptions of the effects of IPV on their children ranged from minimal to major emotional distress, with men describing more significant impact than women.ConclusionsWhen describing acute triggers, parents most commonly mentioned that arguments were instigated by concerns about the division of household labor and parenting, a finding that may have significant implications for intervention development; this was particularly notable for parents of infants. Our findings emphasize the need for innovative programs that help parents cope with the stresses of raising a family as well as programs that directly address the consequences of IPV for children.
| S-EPMC4506431 | biostudies-literature
Project description:BackgroundExpert committees of the German medical associations provide a free and out-of-court evaluation of putative cases of medical malpractice. They prepare reports that contain valuable information on process steps that precede the actual treatment error. The aim of the present study was to identify and systematically categorize individual process steps in the expert reports and thus to lay the foundations for the understanding of malpractice evaluation processes.MethodsIn this study, ten randomly selected and anonymized expert reports of the Expert Committee for Questions of Medical Liability of the District Medical Association of South Württemberg with identified GP treatment errors were evaluated, using the method of qualitative content analysis. In an iterative process, central elements of expert reports were classified into a deductively and inductively built category system.ResultsSix main categories with associated subcategories were identified: 1) structural aspects of the report, 2) doctor-patient communication, 3) medical course, 4) patient's experience, 5) action by the GP team, and 6) coordinative role in the health care system. The category system showed sufficient reliability with repeated use.ConclusionThis study offers an opportunity to learn from errors. The proposed system allows to structure the complexity of expert reports on GP malpractice and may thus serve as a tool in various contexts. In particular, it facilitates the preparation and comparative analysis of reports in a structured way. It could also be used in health care research as well as in education and training.
| S-EPMC11003247 | biostudies-literature
Project description:OBJECTIVE:To provide an overview of qualitative methods, particularly for reviewers and authors who may be less familiar with qualitative research. METHODS:A question and answer format is used to address considerations for writing and evaluating qualitative research. RESULTS AND CONCLUSIONS:When producing qualitative research, individuals are encouraged to address the qualitative research considerations raised and to explicitly identify the systematic strategies used to ensure rigor in study design and methods, analysis, and presentation of findings. Increasing capacity for review and publication of qualitative research within pediatric psychology will advance the field's ability to gain a better understanding of the specific needs of pediatric populations, tailor interventions more effectively, and promote optimal health.
| S-EPMC4888120 | biostudies-literature
Project description:Participation in external quality assessment (EQA) is a key element of quality assurance in medical laboratories. In genetics EQA, both genotyping and interpretation are assessed. We aimed to analyse changes in the completeness of interpretation in clinical laboratory reports of the European cystic fibrosis EQA scheme and to investigate the effect of the number of previous participations, laboratory accreditation/certification status, setting and test volume. We distributed similar versions of mock clinical cases to eliminate the influence of the difficulty of the clinical question on interpretation performance: a cystic fibrosis patient (case 1) and a cystic fibrosis carrier (case 2). We then performed a retrospective longitudinal study of reports over a 6-year period from 298 participants for case 1 (2004, 2008, 2009) and from 263 participants for case 2 (2006, 2008, 2009). The number of previous participations had a positive effect on the interpretation score (P<0.0001), whereas the laboratory accreditation/certification status, setting and test volume had no effect. Completeness of interpretation improved over time. The presence of the interpretation element 'requirement for studying the parents to qualify the genotype' increased most (from 49% in 2004 to 93% in 2009). We still observed room for improvement for elements that concerned offering testing for familial mutations in relatives and prenatal/preimplantation diagnosis (16% and 24% omission, respectively, for case 1 in 2009). Overall, regular participation in external quality assessment contributes to improved interpretation in reports, with potential value for quality of care for patients and families by healthcare professionals involved in genetic testing.
| S-EPMC3499747 | biostudies-literature
Project description:Tracking and understanding data quality, analysis and reproducibility are critical concerns in the biological sciences. This is especially true in genomics where next generation sequencing (NGS) based technologies such as ChIP-seq, RNA-seq and ATAC-seq are generating a flood of genome-scale data. However, such data are usually processed with automated tools and pipelines, generating tabular outputs and static visualisations. Interpretation is normally made at a high level without the ability to visualise the underlying data in detail. Conventional genome browsers are limited to browsing single locations and do not allow for interactions with the dataset as a whole. Multi Locus View (MLV), a web-based tool, has been developed to allow users to fluidly interact with genomics datasets at multiple scales. The user is able to browse the raw data, cluster, and combine the data with other analysis and annotate the data. User datasets can then be shared with other users or made public for quick assessment from the academic community. MLV is publically available at https://mlv.molbiol.ox.ac.uk .
| S-EPMC8149710 | biostudies-literature
Project description:BackgroundMultiple high-throughput molecular profiling by omics technologies can be collected for the same individuals. Combining these data, rather than exploiting them separately, can significantly increase the power of clinically relevant patients subclassifications.ResultsWe propose a multi-view approach in which the information from different data layers (views) is integrated at the levels of the results of each single view clustering iterations. It works by factorizing the membership matrices in a late integration manner. We evaluated the effectiveness and the performance of our method on six multi-view cancer datasets. In all the cases, we found patient sub-classes with statistical significance, identifying novel sub-groups previously not emphasized in literature. Our method performed better as compared to other multi-view clustering algorithms and, unlike other existing methods, it is able to quantify the contribution of single views on the final results.ConclusionOur observations suggest that integration of prior information with genomic features in the subtyping analysis is an effective strategy in identifying disease subgroups. The methodology is implemented in R and the source code is available online at http://neuronelab.unisa.it/a-multi-view-genomic-data-integration-methodology/ .
| S-EPMC4539887 | biostudies-literature