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921.
Gemma R Brett Ella J Wilkins Emma T Creed Kirsty West Anna Jarmolowicz Giulia M Valente Yael Prawer Elly Lynch Ivan Macciocca 《Journal of genetic counseling》2018,27(5):1010-1021
As genomic sequencing becomes more widely available in clinical settings for diagnostic purposes, a number of genetic counseling issues are gaining precedence. The ability to manage these issues will be paramount as genetic and non-genetic healthcare professionals navigate the complexities of using genomic technologies to facilitate diagnosis and inform patient management. Counseling issues arising when counseling for diagnostic genomic sequencing were identified by four genetic counselors with 10 years of collective experience providing genetic counseling in this setting. These issues were discussed and refined at a meeting of genetic counselors working in clinical genomics settings in Melbourne, Australia. Emerging counseling issues, or variations of established counseling issues, were identified from the issues raised. Illustrative cases were selected where pre- and post-test genetic counseling was provided in clinical settings to individuals who received singleton or trio WES with targeted analysis. Counseling issues discussed in this paper include a reappraisal of how genetic counselors manage hope in the genomic era, informed consent for secondary use of genomic data, clinical reanalysis of genomic data, unexpected or unsolicited secondary findings, and trio sequencing. The authors seek to contribute to the evolving understanding of genetic counseling for diagnostic genomic sequencing through considering the applicability of existing genetic counseling competencies to managing emerging counseling issues and discussing genetic counseling practice implications. 相似文献
922.
Patients and health care consumers can obtain access to their “raw,” or uninterpreted, genetic data from direct-to-consumer genetic testing companies, researchers, or providers and pursue self-directed analysis via third-party interpretation tools. Yet relatively little is known about the nature of currently available interpretation tools or the motivations of tool developers. We conducted a structured content analysis of 23 third-party interpretation tool websites and supporting information, tracking features such as types of information returned, modes of generating and presenting that information, and privacy and security measures. We additionally conducted qualitative interviews with a subset of 10 tool developers. A majority of tools (16 of 23, or 70%) offer some type of health or wellness-related information, often extracted from publicly available variant annotation databases. Half of those interviewed characterized their activities as “bridging” users to the scientific literature rather than interpretation, for which they gave a variety of scientific, ethical, and regulatory justifications. The scale, heterogeneity, and complexity of information available from third-party interpretation are unprecedented. While developers aim to enlighten and empower tool users, interpretation-free “bridging” to rapidly evolving databases may instead impose burdens on genetic counselors and other health care providers asked to provide further contextualization and explanation. 相似文献
923.
Rebecca R. Moultrie Megan A. Lewis Ryan S. Paquin Ann Lucas Jill Jarecki Holly L. Peay 《Journal of genetic counseling》2018,27(2):416-425
Duchenne/Becker muscular dystrophy (DBMD) and spinal muscular atrophy (SMA) are rare neuromuscular disorders that present challenges to therapeutic and clinical trial decision making. We developed an interactive, evidence-based online tool designed to encourage thoughtful deliberation of the pros and cons of trial participation and to inform meaningful discussions with healthcare providers. Prior research demonstrates the importance of tool availability at the time each family is considering trial participation, which may be prior to the informed consent process. The tool is intended to be easily modified to other pediatric disease communities. Tool development was informed by prior qualitative research, literature reviews, and stakeholder input. Specific items were derived based on an online exploratory questionnaire of parents whose children participated in a trial for DBMD or SMA to understand motivations for participation. Parent participants in the exploratory survey reported strong impact of altruistic and individual benefit motivations and placed much greater emphasis on anticipated trial benefits than on harms when making participation decisions. We used this data to develop the evidence-based deliberation tool using a community-engaged approach. We initially targeted the tool for DBMD while using SMA survey data to evaluate ease of transition to that population. We conducted two iterative sets of activities to inform development and refinement of the tool: (1) community engagement of key stakeholders and (2) user experience testing. These activities suggest that the tool may increase deliberation and the weighing of benefits and harms. Ongoing evaluation will determine the acceptability and efficacy of this online intervention. 相似文献
924.
Samuel O. Ngene Babatunde Adedokun Prisca Adejumo Olufunmilayo Olopade 《Journal of genetic counseling》2018,27(4):863-873
Genetic testing services for breast cancer are well established in developed countries compared to African populations that bear a disproportionate burden of breast cancer (BC). The objective of this study is to examine the knowledge of professional Nigerian women about BC genetics and their intentions to utilize genetic testing services when it is made available in Nigeria. In this study, 165 lecturers and 189 bankers were recruited and studied using a validated self-administered questionnaire. The respondents’ mean age was 34.9 years (SD?=?10.9), 6.5% had family history of BC, and 84.7% had limited knowledge of breast cancer genetics. The proportion of women with genetic testing intentions for breast cancer was 87.3%. Health care access (OR?=?2.35, 95% CI, 1.07–5.13), religion (OR?=?3.51, 95% CI, 1.03–11.92), and perceived personal risk if a close relative had breast cancer (OR?=?2.31, 95% CI, 1.05–5.08) independently predicted testing intentions. The genetic testing intentions for BC were high despite limited knowledge about breast cancer genetics. Promotion of BC genetics education as well as efforts to make BC genetic testing services available in Nigeria at reduced cost remains essential. 相似文献
925.
Andrew Joseph McCarty Jeffrey M. Miller Heather Fecteau Jeffrey W Pennington Lisa Kessler 《Journal of genetic counseling》2018,27(2):406-415
Many medical institutions have converted to a digital model for record keeping due to the Health Information Technology for Economic and Clinical Health Act. This Act provides incentives to health care systems to accelerate and encourage the adoption of electronic health record (EHR) systems. The pedigree as a tool in medicine provides an efficient method to assess and represent an individual’s health and family health risks that may otherwise not be apparent in the medical record in a clearly identifiable way (Schuette, J. L., & Bennett 2009). Many clinicians continue to construct pedigrees using pen and paper method despite findings of improved identification of at risk patients with similar electronic intake tools (Arar et al. in Personalized Medicine 2011 8:523–32). The goal of this study was to explore the patient and practitioner experience with electronic pedigree programs using Proband, an application developed at The Children’s Hospital of Philadelphia for genetic counselors to construct pedigrees during genetic counseling sessions directly on iPads. The first part of this study looked at the patient experience and assessed time to take the pedigree and the impact of using an electronic pedigree tool on the relationship between participant and genetic counselor. This involved 50 participants and was compared with the traditional paper method of taking a pedigree. There was no statistical significance found between the two different mediums in accuracy, speed, and rapport with provider. The second part of the study assessed the usability of Proband by ten genetic counselors. Overall, the application received a system usability score of 90/100 with a majority (7/10) of counselors agreeing that they would use this application in their clinic. The positive outcome of this study encourages future work to assess the impact and usability of programs on a larger scale as they continue to integrate into current electronic health records. 相似文献
926.
Sarah Wright Mary Porteous Diane Stirling Julia Lawton Oliver Young Charlie Gourley Nina Hallowell 《Journal of genetic counseling》2018,27(6):1459-1472
This paper explores patients’ views and experiences of undergoing treatment-focused BRCA1 and BRCA2 genetic testing (TFGT), either offered following triaging to clinical genetics (breast cancer) or as part of a mainstreamed care pathway in oncology (ovarian cancer). Drawing on 26 in-depth interviews with patients with breast or ovarian cancer who had undergone TFGT, this retrospective study examines patients’ views of genetic testing at this point in their care pathway, focusing on issues, such as initial response to the offer of testing, motivations for undergoing testing, and views on care pathways. Patients were amenable to the incorporation of TFGT at an early stage in their cancer care irrespective of (any) prior anticipation of having a genetic test or family history. While patients were glad to have been offered TFGT as part of their care, some questioned the logic of the test’s timing in relation to their cancer treatment. Crucially, patients appeared unable to disentangle the treatment role of TFGT from its preventative function for self and other family members, suggesting that some may undergo TFGT to obtain information for others rather than for self. 相似文献
927.
Erica M. Bednar Michael T. WalshJr. Ellen Baker Kimberly I. Muse Holly D. Oakley Rebekah C. Krukenberg Cara S. Dresbold Sandra B. Jenkinson Amanda L. Eppolito Kelly B. Teed Molly H. Klein Nichole A. Morman Elizabeth C. Bowdish Pauline Russ Emaline E. Wise Julia N. Cooper Michael W. Method John W. Henson Andrew V. Grainger Banu K. Arun Karen H. Lu 《Journal of genetic counseling》2018,27(6):1482-1496
An environmental scan (ES) is an efficient mixed-methods approach to collect and interpret relevant data for strategic planning and project design. To date, the ES has not been used nor evaluated in the clinical cancer genetics setting. We created and implemented an ES to inform the design of a quality improvement (QI) project to increase the rates of adherence to national guidelines for cancer genetic counseling and genetic testing at three unique oncology care settings (OCS). The ES collected qualitative and quantitative data from reviews of internal processes, past QI efforts, the literature, and each OCS. The ES used a data collection form and semi-structured interviews to aid in data collection. The ES was completed within 6 months, and sufficient data were captured to identify opportunities and threats to the QI project’s success, as well as potential barriers to, and facilitators of guideline-based cancer genetics services at each OCS. Previously unreported barriers were identified, including inefficient genetic counseling appointment scheduling processes and the inability to track referrals, genetics appointments, and genetic test results within electronic medical record systems. The ES was a valuable process for QI project planning at three OCS and may be used to evaluate genetics services in other settings. 相似文献
928.
Tonya N. Davis Regan Weston Abby Hodges Lauren Uptegrove Kristen Williams Kelly M. Schieltz 《Journal of Behavioral Education》2018,27(3):343-357
Demand fading, a schedule thinning procedure for escape-maintained behaviors, typically includes an escape extinction component. The purpose of this study was to examine the effectiveness of demand fading with alternative reinforcement utilizing concurrent reinforcement schedules without extinction. During demand fading, aggression and requests emitted prior to meeting the task completion criterion were reinforced with short, low-quality breaks, but requests emitted following the task completion criterion were reinforced with long, high-quality breaks. Results suggest that concurrent schedules of reinforcement may be an effective alternative to extinction as a component of demand fading. 相似文献
929.
The current study employed a randomized controlled trial to evaluate the use of peer tutoring and fluency-based instruction to increase mathematics fluency with addition and subtraction computation skills. Forty-one elementary school students between the ages of eight and 12 years participated in the 8-week study using cross-age peer tutoring, Say All Fast Minute Every Day Shuffled, frequency building, and the morningside math facts curriculum (Johnson in Morningside mathematics fluency: math facts (vol 1–6; curriculum program), Morningside Press, Seattle, 2008). Pre- and post-test measures of mathematics fluency and calculation were conducted with all participants. A measure of social skills and competing problem behaviors was also conducted at pre- and post-testing to evaluate any additional effects of the peer tutoring model. The results demonstrated a statistically significant difference between groups on measures of mathematics fluency, with the experimental group demonstrating significantly higher scores than the control group at post-testing. There were no significant differences between groups on measures of social skills and competing problem behaviors or calculation. The findings indicate that cross-age peer tutoring and fluency-based instruction resulted in positive outcomes for tutees in the mathematics domain, specifically mathematics fluency. 相似文献
930.
Menas E. Zannikos Elizabeth McCallum Ara J. Schmitt Kristen E. Pearson 《Journal of Behavioral Education》2018,27(3):301-323
This study evaluated the effectiveness and compared the efficiency of two interventions on the spelling performance of four fifth-grade students with learning disabilities in reading and writing. The first intervention, Cover, Copy, and Compare (CCC), is an established, evidence-based procedure, while the second, the Taped Spelling Intervention (TSI), is a new procedure with only one published article establishing its effectiveness at the time of this study. Although both interventions resulted in spelling performance gains, learning speed was higher in the CCC condition and students overwhelmingly reported preferences for CCC over TSI. Spelling gains were maintained on assessments administered approximately two weeks following the final intervention sessions for both interventions. Discussion focuses on the importance of easily implemented, socially acceptable, time- and resource-efficient interventions for increasing the academic performance of students, and the value of comparative analyses for choosing appropriate interventions. 相似文献