Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report.
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ABSTRACT:
SUBMITTER: Lubin IM
PROVIDER: S-EPMC2665866 | biostudies-other | 2009 Mar
REPOSITORIES: biostudies-other
Publications
Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report.
Lubin Ira M IM McGovern Margaret M MM Gibson Zoe Z Gross Susan J SJ Lyon Elaine E Pagon Roberta A RA Pratt Victoria M VM Rashid Jamila J Shaw Colleen C Stoddard Lander L Trotter Tracy L TL Williams Marc S MS Amos Wilson Jean J Pass Kenneth K
The Journal of molecular diagnostics : JMD 20090205 2
The use of molecular genetic tests for heritable conditions is expected to increase in medical settings, where genetic knowledge is often limited. As part of a project to improve the clarity of genetic test result reports to minimize misunderstandings that could compromise patient care, we sought input about format and content from practicing primary care clinicians. In facilitated workgroup discussions, clinicians from pediatric, obstetrics-gynecology, and family practice provided their perspec ...[more]
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Project description:BackgroundWe have shown previously that current recommendations in UK guidelines for monitoring long-term conditions are largely based on expert opinion. Due to a lack of robust evidence on optimal monitoring strategies and testing intervals, the guidelines are unclear and incomplete. This uncertainty may underly variation in testing that has been observed across the UK between GP practices and regions.MethodsOur objective was to audit current testing practices of GPs in the UK; in particular, perspectives on laboratory tests for monitoring long-term conditions, the workload, and how confident GPs are in ordering and interpreting these tests. We designed an online survey consisting of multiple-choice and open-ended questions that was promoted on social media and in newsletters targeting GPs practicing in UK. The survey was live between October-November 2019. The results were analysed using a mixed-methods approach.ResultsThe survey was completed by 550 GPs, of whom 69% had more than 10 years of experience. The majority spent more than 30 min per day on testing (78%), but only half of the respondents felt confident in dealing with abnormal results (53%). There was a high level of disagreement for whether liver function tests and full blood counts should be done 'routinely', 'sometimes', or 'never' in patients with a certain long-term condition. The free text comments revealed three common themes: (1) pressures that promote over-testing, i.e. guidelines or protocols, workload from secondary care, fear of missing something, patient expectations; (2) negative consequences of over-testing, i.e. increased workload and patient harm; and (3) uncertainties due to lack of evidence and unclear guidelines.ConclusionThese results confirm the variation that has been observed in test ordering data. The results also show that most GPs spent a significant part of their day ordering and interpreting monitoring tests. The lack of confidence in knowing how to act on abnormal test results underlines the urgent need for robust evidence on optimal testing and the development of clear and unambiguous testing recommendations. Uncertainties surrounding optimal testing has resulted in an over-use of tests, which leads to a waste of resources, increased GP workload and potential patient harm.
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Project description:PURPOSE:Clinical utility describes a genetic test's value to patients, families, health-care providers, systems, or society. This study aims to define clinical utility from the perspective of clinicians and develop a novel outcome measure that operationalizes this concept. METHODS:Item selection for the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) was informed by a scoping review of the literature. Item reduction was guided by qualitative and quantitative feedback from semistructured interviews and a cross-sectional survey of genetics and nongenetics specialists. Final item selection, index scoring, and structure were guided by feedback from an expert panel of genetics professionals. RESULTS:A review of 194 publications informed the selection of a preliminary set of 25 items. Feedback from 35 semistructured interviews, 113 surveys, and 11 expert panelists informed the content and wording of C-GUIDE's final set of 18 items that reflect on the utility of testing related to diagnosis, management, and familial/psychosocial impact. C-GUIDE achieves content and face validity for use in a range of diagnostic genetic testing settings. CONCLUSION:Work to establish reliability and construct validity is underway. C-GUIDE will be useful in comparative studies to generate policy-relevant evidence pertaining to the clinical utility of genetic testing across a range of settings.
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Project description:Medical laboratories, and specifically genetic testing laboratories, provide vital medical services to different clients: clinicians requesting a test, patients from whom the sample was collected, public health and medical-legal instances, referral laboratories and authoritative bodies. All expect results that are accurate and obtained in an efficient and effective manner, within a suitable time frame and at acceptable cost. There are different ways of achieving the end results, but compliance with International Organization for Standardization (ISO) 15189, the international standard for the accreditation of medical laboratories, is becoming progressively accepted as the optimal approach to assuring quality in medical testing. We present recommendations and strategies designed to aid genetic testing laboratories with the implementation of a quality management system, including key aspects such as document control, external quality assessment, internal quality control, internal audit, management review, validation, as well as managing the human side of change. The focus is on pragmatic approaches to attain the levels of quality management and quality assurance required for accreditation according to ISO 15189, within the context of genetic testing. Attention is also given to implementing efficient and effective quality improvement.
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Project description:ImportanceParents of children with cancer value strong therapeutic relationships with oncology clinicians, but not every relationship is positive.ObjectiveTo identify the prevalence of challenging parent-clinician relationships in pediatric oncology and factors associated with these challenges from parent and clinician perspectives.Design, setting, and participantsThis survey was conducted among parents and oncology clinicians of children with cancer within 3 months of diagnosis from November 2015 to July 2019 at Dana-Farber Cancer Institute/Boston Children's Hospital and Texas Children's Hospital. Participants were 400 parents of children with cancer and 80 clinicians (ie, oncology physicians and nurse practitioners). Parents completed surveys about relationships with 1 to 2 primary oncology clinicians; clinicians completed surveys about relationships with parents. Data were analyzed from July 2020 to August 2021.ExposuresAt least 3 previous clinical visits between parent and clinician.Main outcomes and measuresThe Relationship Challenges Scale Parent Version and Clinician Version were developed and used to measure threats to the therapeutic alliance. For the Relationship Challenges Scale-Parent version, relationships were considered challenging if a parent responded to any single question in the 2 lowest of 4 possible categories. For the Relationship Challenges Scale-Clinician version, challenges were considered to be present if a clinician reported responses in the 3 lowest of 6 possible response categories to any question.ResultsAmong 400 parents, there were 298 [74.5%] women, 25 Asian individuals (6.3%), 28 Black individuals (7.0%), 97 Hispanic individuals (24.3%), 223 White individuals (55.8%), and 10 individuals (2.4%) with other race or ethnicity; race and ethnicity data were missing for 17 (4.3%) individuals. Among 80 clinicians, there were 57 (71.3%) women, 38 attending physicians (47.5%), 32 fellows (40.0%), and 10 nurse practitioners (12.5%). Parents identified 676 unique relationships with clinicians, and clinician reports were available for 338 relationships. Among 338 relationships with paired parent and clinician surveys, 81 relationships (24.0%) were considered challenging by parents, 127 relationships (37.6%) were considered challenging by clinicians, and 33 relationships (9.8%) were considered challenging by parent and clinician. Parents with Asian or other race or ethnicity (odds ratio [OR] vs White parents, 3.62; 95% CI, 1.59-8.26) or who had lower educational attainment (OR for ≤high school vs >high school, 3.03; 95% CI, 1.56-5.90) were more likely to experience relationships as challenging. Clinicians used a variety of strategies more frequently in 127 relationships in which they perceived challenges vs 211 relationships in which they did not perceive challenges, such as holding regular family meetings (22 relationships [17.3%] vs 13 relationships [6.2%]; P = .009) and offering extra time and attention (66 relationships [52%] vs 60 relationships [28.4%]; P < .001). However, these strategies were not used with increased frequency when parents experienced relationships as challenging vs when parents did not experience this.Conclusions and relevanceThis survey study found that nearly one-quarter of parents of children with cancer reported challenges in the therapeutic relationship with their oncologist and that clinicians used strategies to improve relationships more frequently when they experienced the relationship as challenging. These findings suggest that new strategies are needed to improve experiences for parents and to help clinicians recognize and attend to parents whose experiences are suboptimal.
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Project description:IntelliCage for mice is a rodent home-cage equipped with four corner structures harboring symmetrical double panels for operant conditioning at each of the two sides, either by reward (access to water) or by aversion (non-painful stimuli: air-puffs, LED lights). Corner visits, nose-pokes and actual licks at bottle-nipples are recorded individually using subcutaneously implanted transponders for RFID identification of up to 16 adult mice housed in the same home-cage. This allows for recording individual in-cage activity of mice and applying reward/punishment operant conditioning schemes in corners using workflows designed on a versatile graphic user interface. IntelliCage development had four roots: (i) dissatisfaction with standard approaches for analyzing mouse behavior, including standardization and reproducibility issues, (ii) response to handling and housing animal welfare issues, (iii) the increasing number of mouse models had produced a high work burden on classic manual behavioral phenotyping of single mice. and (iv), studies of transponder-chipped mice in outdoor settings revealed clear genetic behavioral differences in mouse models corresponding to those observed by classic testing in the laboratory. The latter observations were important for the development of home-cage testing in social groups, because they contradicted the traditional belief that animals must be tested under social isolation to prevent disturbance by other group members. The use of IntelliCages reduced indeed the amount of classic testing remarkably, while its flexibility was proved in a wide range of applications worldwide including transcontinental parallel testing. Essentially, two lines of testing emerged: sophisticated analysis of spontaneous behavior in the IntelliCage for screening of new genetic models, and hypothesis testing in many fields of behavioral neuroscience. Upcoming developments of the IntelliCage aim at improved stimulus presentation in the learning corners and videotracking of social interactions within the IntelliCage. Its main advantages are (i) that mice live in social context and are not stressfully handled for experiments, (ii) that studies are not restricted in time and can run in absence of humans, (iii) that it increases reproducibility of behavioral phenotyping worldwide, and (iv) that the industrial standardization of the cage permits retrospective data analysis with new statistical tools even after many years.
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Project description:Microbially influenced corrosion (MIC) is an aggressive type of corrosion that occurs in aquatic environments and is sparked by the development of a complex biological matrix over a metal surface. In marine environments, MIC is exacerbated by the frequent variability in environmental conditions and the typically high diversity of microbial communities; hence, local and in situ studies are crucial to improve our understanding of biofilm composition, biological interactions among its members, MIC characteristics, and corrosivity. Typically, material performance and anticorrosion strategies are evaluated under controlled laboratory conditions, where natural fluctuations and gradients (e.g., light, temperature, and microbial composition) are not effectively replicated. To determine whether MIC development and material deterioration observed in the laboratory are comparable to those that occur under service conditions (i.e., field conditions), we used two testing setups, in the lab and in the field. Stainless steel (SS) AISI 316L coupons were exposed to southeastern Pacific seawater for 70 days using (i) acrylic tanks in a running seawater laboratory and (ii) an offshore mooring system with experimental frames immersed at two depths (5 and 15 m). Results of electrochemical evaluation, together with those of microbial community analyses and micrographs of formed biofilms, demonstrated that the laboratory setup provides critical information on the early biofilm development process (days), but the information gathered does not predict deterioration or biofouling of SS surfaces exposed to natural conditions in the field. Our results highlight the need to conduct further research efforts to understand how laboratory experiments may better reproduce field conditions where applications are to be deployed, as well as to improve our understanding of the role of eukaryotes and the flux of nutrients and oxygen in marine MIC events.
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Project description:ImportanceRobust laboratory use data are lacking to support the general assumption that teaching hospitals with trainees routinely order more laboratory tests for inpatients than do nonteaching hospitals.ObjectiveTo quantify differences in the use of laboratory tests between teaching and nonteaching hospitals.Design, setting, and participantsA cross-sectional study was performed using a statewide database to identify hospitalizations with a primary diagnosis of bacterial pneumonia or cellulitis from January 1, 2014, to June 30, 2015, at teaching and nonteaching hospitals with 100 or more hospitalizations of each condition. Patients included were adult inpatients with a primary diagnosis of bacterial pneumonia (n = 24 118) or cellulitis (n = 19 211); patients excluded were those with an intensive care unit stay, transfer from another hospital, or a length of stay that was 2 SDs or more of the condition's mean length of stay.Main outcomes and measuresMean laboratory tests per day stratified by illness severity, as well as factors associated with laboratory use rates.ResultsA total of 43 329 hospitalized patients (20493 women and 22836 men) had a principal diagnosis of bacterial pneumonia or cellulitis across 11 major teaching hospitals, 12 minor teaching hospitals, and 73 nonteaching hospitals in Texas. Mean number of laboratory tests per day varied significantly by hospital type and was highest for major teaching hospitals for both conditions (bacterial pneumonia: major teaching hospitals, 13.21; 95% CI, 12.91-13.51; nonteaching hospitals, 8.92; 95% CI, 8.84-9.00; P < .001; cellulitis: major teaching hospitals, 10.43; 95% CI, 10.16-10.70; nonteaching hospitals, 7.29; 95% CI, 7.22-7.36; P < .001). This association held for all levels of illness severity for both conditions, except for patients with cellulitis with the highest illness severity level. In generalized mixed linear regression models, controlling for additional patient and encounter covariates, there was a significant difference in the marginal effect of hospital teaching status on mean number of laboratory tests per day between major teaching and nonteaching hospitals (difference in marginal mean laboratory tests per day for bacterial pneumonia, 3.58; 95% CI, 2.61-4.55; P < .001; for cellulitis, 2.61; 95% CI, 1.76-3.47; P < .001).Conclusions and relevanceCompared with nonteaching hospitals, patients in Texas admitted to major teaching hospitals with bacterial pneumonia or cellulitis received significantly more laboratory tests after controlling for illness severity, length of stay, and patient demographics. These results support the need to examine how the culture of training environments may contribute to increased use of laboratory tests.
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Project description:Pediatric inherited cardiomyopathies (CMPs) and channelopathies (CNPs) remain important causes of death in this population, therefore, there is a need for prompt diagnosis and tailored treatment. Conventional evaluation fails to establish the diagnosis of pediatric CMPs and CNPs in a significant proportion, prompting further, more complex testing to make a diagnosis that could influence the implementation of lifesaving strategies. Genetic testing in CMPs and CNPs may help unveil the underlying cause, but needs to be carried out with caution given the lack of uniform recommendations in guidelines about the precise time to start the genetic evaluation or the type of targeted testing or whole-genome sequencing. A very diverse etiology and the scarce number of randomized studies of pediatric CMPs and CNPs make genetic testing of these maladies far more particular than their adult counterpart. The genetic diagnosis is even more puzzling if the psychological impact point of view is taken into account. This review aims to put together different perspectives, state-of-the art recommendations-synthetizing the major indications from European and American guidelines-and psychosocial outlooks to construct a comprehensive genetic assessment of pediatric CMPs and CNPs.
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