Publications by authors named "M Z Rhendra Hardy"

1,343 Publications

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Analysis of the reported use of practice-based competencies by North American genetic counselors during the COVID-19 pandemic.

J Genet Couns 2021 Sep 14. Epub 2021 Sep 14.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

Genetic counseling services changed due to the COVID-19 pandemic. Many genetic counselors (GCs) moved from in-person to telehealth services. Others were redeployed by choice or necessity, using their expertise to provide COVID-19 care and education. For some, their employment status changed due to budgetary constraints or decreasing referrals. This study surveyed North American GCs to assess the relative use of genetic counseling Practice-Based Competencies (PBCs) as a proxy for the skills used during the first wave of the pandemic, whether GCs were in their current role or in new or adjusted roles. A secondary aim was to determine whether GCs believe their training should be refocused in view of the workforce shifts posed by the pandemic. The survey comprised closed- and open-ended questions and was completed in full by 97 respondents. The study population was representative of the general genetic counseling workforce in terms of gender, race/ethnicity, age, and practice area when compared to the National Society of Genetic Counselors 2020 Professional Status Survey. Most participants (97.9%) indicated that the COVID-19 pandemic resulted in a change to their work, and 89.7% used at least one PBC at a different frequency than before the pandemic. The most significant change was the adaptation of genetic counseling skills for varied service delivery models: 83.5% of respondents indicated that their roles and responsibilities moved to a remote setting and/or utilized telehealth. The majority of participants felt competent using the PBCs during the pandemic. Major themes that emerged from the qualitative data were as follows: (a) adaptation of service delivery, (b) translation of genetic counseling skills, and (c) provision of psychosocial support. This study highlights practice changes for GCs due to the COVID-19 pandemic as well as the increased use of, and need for focused training in, varied service delivery models.
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http://dx.doi.org/10.1002/jgc4.1504DOI Listing
September 2021

A Family of Heterobimetallic Cubes Shows Spin-Crossover Behaviour Near Room Temperature.

Angew Chem Int Ed Engl 2021 Aug 12. Epub 2021 Aug 12.

Rheinische Friedrich-Wilhelms-Universität Bonn, Kekulé-Institut für Organische Chemie und Biochemie, Gerhard-Domagk-Str. 1, 53121, Bonn, Germany.

Using 4-(4'-pyridyl)aniline as a simple organic building block in combination with three different aldehyde components together with metal(II) salts gave three different Fe Pt -cubes and their corresponding Zn Pt analogues by employing the subcomponent self-assembly approach. Whereas the use of zinc(II) salts gave rise to diamagnetic cages, iron(II) salts yielded metallosupramolecular cages that show spin-crossover behaviour in solution. The spin-transition temperature T depends on the incorporated aldehyde component, giving a construction kit for the deliberate synthesis of spin-crossover compounds with tailored transition properties. Incorporation of 4-thiazolecarbaldehyde or N-methyl-2-imidazole-carbaldehyde yielded cages that undergo spin-crossover around room temperature whereas the cage obtained using 1H-4-imidazolecarbaldehyde shows a spin-transition at low temperatures. Three new structures were characterized by synchrotron X-ray diffraction and all structures were characterized by mass spectrometry, NMR and UV/Vis spectroscopy.
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http://dx.doi.org/10.1002/anie.202108792DOI Listing
August 2021

Artificial intelligence in radiography: Where are we now and what does the future hold?

Radiography (Lond) 2021 Aug 8. Epub 2021 Aug 8.

University of Bradford, Bradford, UK.

Objectives: This paper will outline the status and basic principles of artificial intelligence (AI) in radiography along with some thoughts and suggestions on what the future might hold. While the authors are not always able to separate the current status from future developments in this field, given the speed of innovation in AI, every effort has been made to give a view to the present with projections to the future.

Key Findings: AI is increasingly being integrated within radiography and radiographers will increasingly be working with AI based tools in the future. As new AI tools are developed it is essential that robust validation is undertaken in unseen data, supported by more prospective interdisciplinary research. A framework of stronger, more comprehensive approvals are recommended and the involvement of service users, including practitioners, patients and their carers in the design and implementation of AI tools is essential. Clearer accountability and medicolegal frameworks are required in cases of erroneous results from the use of AI-powered software and hardware. Clearer career pathways and role extension provision for healthcare practitioners, including radiographers, are required along with education in this field where AI will be central.

Conclusion: With the current growth rate of AI tools it is expected that many of the applications in medical imaging will continue to develop to more accurate, less expensive and more readily available versions moving from the bench to the bedside. The hope is that, alongside efficiency and increased patient throughput, patient centred care and precision medicine will find their way in, so we will not only deliver a faster, safer, seamless clinical service but also one that will have the patients at its heart.

Impact For Practice: AI is already reaching clinical practice in many forms and its presence will continue to increase over the short and long-term future. Radiographers must learn to work with AI, embracing it and maximising the positive outcomes from this new technology.
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http://dx.doi.org/10.1016/j.radi.2021.07.015DOI Listing
August 2021

Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens.

J Mol Diagn 2021 Aug 4. Epub 2021 Aug 4.

Johns Hopkins Genomics, Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Somatic gene fusions are common in leukemias/lymphomas and solid tumors. The detection of gene fusions is crucial for diagnosis. NanoString fusion technology is a multiplexed hybridization method that interrogates hundreds of gene fusions in a single reaction. This study's objective was to determine the performance characteristics and diagnostic utility of NanoString fusion assay in a clinical diagnostics laboratory. Validation using 100 positive specimens and 15 negative specimens by a combined reference standard of fluorescence in situ hybridization (FISH)/RT-PCR/next-generation sequencing (NGS) assays achieved 100% sensitivity in leukemias/lymphomas and 95.0% sensitivity and 100% specificity in solid tumors. Subsequently, 214 consecutive clinical cases, including 73 leukemia/lymphoma specimens and 141 formalin-fixed, paraffin-embedded solid tumor specimens, were analyzed by gene fusion panels across 638 unique gene fusion transcripts. A variety of comparator tests, including FISH panels, conventional karyotyping, a DNA-based targeted NGS assay, and custom RT-PCR testing, were performed in parallel. The gene fusion assay detected 31 gene fusions, including 16 in leukemia/lymphoma specimens and 15 in solid tumor specimens. The overall sensitivity, specificity, and accuracy of gene fusions detected by the gene fusion panel in all 329 specimens (validation and consecutive clinical specimens) tested in this study were 94.8%, 100%, and 97.9%, respectively, compared with FISH/RT-PCR/NGS assays. The gene fusion panel is a reliable approach that maximizes molecular detection of fusions among both fresh and formalin-fixed, paraffin-embedded cancer specimens.
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http://dx.doi.org/10.1016/j.jmoldx.2021.07.015DOI Listing
August 2021

Telehealth for genetic counseling: A systematic evidence review.

J Genet Couns 2021 Aug 6. Epub 2021 Aug 6.

Write Inscite, South Salem, New York, USA.

Telehealth options, such as telephone counseling or videoconferencing, for service delivery in genetic counseling are becoming more widely accepted. However, until now, there has not been a systematic review of the literature focused specifically on genetic counseling outcomes for telehealth. We performed a systematic evidence review to compare telehealth genetic counseling (THGC), including videoconferencing and telephone counseling, across specialties to in-person genetic counseling (IPGC) for a range of outcomes specific to patient and provider experiences and access to care. Several biomedical databases were queried up to January 11, 2021, to identify original research evaluating THGC. Through this search, 42 articles met the inclusion criteria including 13 randomized controlled trials and 29 non-randomized observational studies encompassing 13,901 patients. Most included studies focused only on cancer genetic counseling; however, adult, pediatric, and prenatal specialties were also represented. The majority of studies evaluated patient and/or access to care outcomes. Though most studies reported high patient satisfaction with THGC, as well as comparable rates of trust and rapport, confidence in privacy, health behavior changes, and psychosocial outcomes, few represented diverse populations. Data of provider experiences were limited and varied with more disadvantages noted compared with patient experiences, particularly in studies involving telephone genetic counseling. Studies consistently reported a decrease in the patients' costs and time required for travel when patients are seen via THGC compared to IPGC with a similar reduction in costs to the health system. Overall, results from our evidence synthesis suggest THGC is non-inferior or comparable to IPGC across many domains, even considering that many of the studies included in this review were conducted with telehealth systems, notably videoconferencing, that were less robust and reliable than what is available today. There are notable limitations within this body of literature, leading to potential uncertainty in the generalizability of our analysis. We outline several recommendations for future studies.
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http://dx.doi.org/10.1002/jgc4.1481DOI Listing
August 2021
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