scholarly journals Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract

2020 ◽  
Vol 16 (1) ◽  
pp. 128-137 ◽  
Author(s):  
Rik Westland ◽  
Kirsten Y. Renkema ◽  
Nine V.A.M. Knoers
Keyword(s):  
Urinary Tract ◽  
Congenital Anomalies ◽  
Large Scale ◽  
Clinical Decision Making ◽  
Clinical Medicine ◽  
Clinical Care ◽  
Clinical Decision ◽  
Environment Interaction ◽  
Clinical Integration ◽  
Urinary Tract Malformations

Revolutions in genetics, epigenetics, and bioinformatics are currently changing the outline of diagnostics and clinical medicine. From a nephrologist’s perspective, individuals with congenital anomalies of the kidney and urinary tract (CAKUT) are an important patient category: not only is CAKUT the predominant cause of kidney failure in children and young adults, but the strong phenotypic and genotypic heterogeneity of kidney and urinary tract malformations has hampered standardization of clinical decision making until now. However, patients with CAKUT may benefit from precision medicine, including an integrated diagnostics trajectory, genetic counseling, and personalized management to improve clinical outcomes of developmental kidney and urinary tract defects. In this review, we discuss the present understanding of the molecular etiology of CAKUT and the currently available genome diagnostic modalities in the clinical care of patients with CAKUT. Finally, we discuss how clinical integration of findings from large-scale genetic, epigenetic, and gene-environment interaction studies may improve the prognosis of all individuals with CAKUT.

Whole-genome sequencing to improve sarcoma diagnosis and patient care.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 11540-11540
Author(s):  
Luuk J. Schipper ◽  
Kim Monkhorst ◽  
Kris Samsom ◽  
Petur Snaebjornsson ◽  
Hester Van Boven ◽  
...  
Keyword(s):  
Decision Making ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Large Scale ◽  
Clinical Decision Making ◽  
Therapeutic Potential ◽  
Clinical Care ◽  
Unmet Need ◽  
Clinical Decision ◽  
Whole Genome

11540 Background: With more than 70 different histological subtypes, accurate classification sarcomas is challenging. Although pathognomonic genetic events aid accurate classification, large-scale molecular profiling is generally not incorporated in regular diagnostic workflows for sarcoma patients. We hypothesized that whole genome sequencing (WGS) optimizes clinical care of sarcoma patients by detection of pathognomonic and actionable variants, and of underlying hereditary conditions. Methods: WGS of tumor and germline DNA was incorporated in the diagnostic work-up of 83 patients with a (presumed) sarcoma as part of the WIDE (Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient) study in a tertiary referral center. WGS results were reported back to the pathologist and treating clinician. Clinical follow-up data were collected prospectively to assess impact of WGS on clinical decision making. Results: WGS analysis had impact on multiple levels. First, in 14% of cases (12/83 patients), the genomic profile led to a revision of the diagnosis (table). All patients had undergone multiple diagnostic procedures (mean number: 4) and pathologist assessments (mean: 6) before WGS analysis was performed. Secondly, actionable biomarkers with therapeutic potential were detected for 36/83 patients and finally, 8 pathogenic germline variants were present. Taken together, WGS had implications for clinical decision making in 52% of patients with (presumed) sarcomas. Conclusions: WGS is an important extension of the diagnostic arsenal of pathologists and has contributed to change of care in 52% of patients with sarcomas. Given the diagnostic complexity and high unmet need for new treatment opportunities in sarcomas we advocate the use of WGS for sarcoma patients early in the disease course. Clinical trial information: NL68609.031.18. [Table: see text]

scholarly journals Clinician checklist for assessing suitability of machine learning applications in healthcare

2021 ◽  
Vol 28 (1) ◽  
pp. e100251
Author(s):  
Ian Scott ◽  
Stacey Carter ◽  
Enrico Coiera
Keyword(s):  
Machine Learning ◽  
Large Scale ◽  
Clinical Decision Making ◽  
Improve Patient Care ◽  
Clinical Decision ◽  
Routine Care ◽  
Machine Learning Algorithms ◽  
Clinical Settings ◽  
Machine Learning Applications ◽  
Key Issues

Machine learning algorithms are being used to screen and diagnose disease, prognosticate and predict therapeutic responses. Hundreds of new algorithms are being developed, but whether they improve clinical decision making and patient outcomes remains uncertain. If clinicians are to use algorithms, they need to be reassured that key issues relating to their validity, utility, feasibility, safety and ethical use have been addressed. We propose a checklist of 10 questions that clinicians can ask of those advocating for the use of a particular algorithm, but which do not expect clinicians, as non-experts, to demonstrate mastery over what can be highly complex statistical and computational concepts. The questions are: (1) What is the purpose and context of the algorithm? (2) How good were the data used to train the algorithm? (3) Were there sufficient data to train the algorithm? (4) How well does the algorithm perform? (5) Is the algorithm transferable to new clinical settings? (6) Are the outputs of the algorithm clinically intelligible? (7) How will this algorithm fit into and complement current workflows? (8) Has use of the algorithm been shown to improve patient care and outcomes? (9) Could the algorithm cause patient harm? and (10) Does use of the algorithm raise ethical, legal or social concerns? We provide examples where an algorithm may raise concerns and apply the checklist to a recent review of diagnostic imaging applications. This checklist aims to assist clinicians in assessing algorithm readiness for routine care and identify situations where further refinement and evaluation is required prior to large-scale use.

scholarly journals Integrating Patient-Generated Health Data Into Clinical Care Settings or Clinical Decision-Making: Lessons Learned From Project HealthDesign

2016 ◽  
Vol 3 (2) ◽  
pp. e26 ◽  
Author(s):  
Deborah J Cohen ◽  
Sara R Keller ◽  
Gillian R Hayes ◽  
David A Dorr ◽  
Joan S Ash ◽  
...  
Keyword(s):  
Decision Making ◽  
Clinical Decision Making ◽  
Clinical Care ◽  
Clinical Decision ◽  
Health Data ◽  
Lessons Learned

scholarly journals ACADEMIA’S ROLE TO DRIVE CHANGE IN THE ORTHOTICS AND PROSTHETICS PROFESSION

2021 ◽  
Vol 4 (2) ◽  
Author(s):  
Géza Kogler ◽  
Christopher Hovorka
Keyword(s):  
Technology Use ◽  
Clinical Training ◽  
Clinical Decision Making ◽  
New Technologies ◽  
Clinical Care ◽  
Clinical Decision ◽  
The United States ◽  
Academic Program ◽  
Number Of Patients ◽  
Curricular Emphasis

This position paper outlines the important role of academia in shaping the orthotics and prosthetics (O&P) profession and preparing for its future. In the United States, most healthcare professions including O&P are under intense pressure to provide cost effective treatments and quantifiable health outcomes. Pivotal changes are needed in the way O&P services are provided to remain competitive. This will require the integration of new technologies and data driven processes that have the potential to streamline workflows, reduce errors and inform new methods of clinical care and device manufacturing. Academia can lead this change, starting with a restructuring in academic program curricula that will enable the next generation of professionals to cope with multiple demands such as the provision of services for an increasing number of patients by a relatively small workforce of certified practitioners delivering these services at a reduced cost, with the expectation of significant, meaningful, and measurable value. Key curricular changes will require replacing traditional labor-intensive and inefficient fabrication methods with the integration of newer technologies (i.e., digital shape capture, digital modeling/rectification and additive manufacturing). Improving manufacturing efficiencies will allow greater curricular emphasis on clinical training and education – an area that has traditionally been underemphasized. Providing more curricular emphasis on holistic patient care approaches that utilize systematic and evidence-based methods in patient assessment, treatment planning, dosage of O&P technology use, and measurement of patient outcomes is imminent. Strengthening O&P professionals’ clinical decision-making skills and decreasing labor-intensive technical fabrication aspects of the curriculum will be critical in moving toward a digital and technology-centric practice model that will enable future practitioners to adapt and survive. Article PDF Link: https://jps.library.utoronto.ca/index.php/cpoj/article/view/36673/28349 How To Cite: Kogler GF, Hovorka CF. Academia’s role to drive change in the orthotics and prosthetics profession. Canadian Prosthetics & Orthotics Journal. 2021; Volume 4, Issue 2, No.21. https://doi.org/10.33137/cpoj.v4i2.36673 Corresponding Author: Géza F. KoglerOrthotics and Prosthetics Unit, Kennesaw State University.E-Mail: [email protected] ID: https://orcid.org/0000-0003-0212-5520

Introduction

2020 ◽  
pp. 1-14
Author(s):  
Pat Croskerry
Keyword(s):  
Decision Making ◽  
Clinical Decision Making ◽  
Clinical Medicine ◽  
Medical Training ◽  
Clinical Decision ◽  
Current Medical ◽  
Dual Process ◽  
Cognitive Sciences ◽  
Clinical Detail ◽  
The Rich

Medical error is one of the leading causes of death, and most of these errors appear to occur in the ways that practitioners’ thoughts and feelings impact their decision making. Major gains have been made in the cognitive sciences in the past few decades that have provided a model for understanding how decisions are made—dual process theory. It is an excellent platform on which to examine the different ways decisions are made. Importantly, it allows for the examination of the pervasive influence of cognitive and affective biases on clinical decision making. Current medical training appears to fall short of what is needed to produce rational decision makers, due to what has been referred to as a mindware gap. Practitioners need to move from routine expertise to a higher level of expertise that will close this gap. A clear difficulty lies in finding ways of understanding and teaching the clinical decision-making process that do not violate the ecological characteristics of real-time clinical practice. By preserving as much as possible the rich clinical detail that makes up clinical medicine, this book attempts to offer important insights into the process.

Pathogenesis of Peritoneal Sclerosis

2005 ◽  
Vol 28 (2) ◽  
pp. 90-96 ◽  
Author(s):  
C. Pollock
Keyword(s):  
Peritoneal Dialysis ◽  
Large Scale ◽  
Clinical Decision Making ◽  
Inflammatory Cells ◽  
Clinical Decision ◽  
Cumulative Exposure ◽  
Peritoneal Membrane ◽  
Peritoneal Fibrosis ◽  
Histological Data ◽  
The Individual

Peritoneal sclerosis is an almost invariable consequence of peritoneal dialysis. In most circumstances it is “simple” sclerosis, manifesting clinically with an increasing peritoneal transport rate and loss of ultrafiltration capacity. In contrast, encapsulating peritoneal sclerosis is a life threatening and usually irreversible condition, associated with bowel obstruction, malnutrition and death. It is unknown whether common etiological factors underlie the development of these 2 clinically and pathologically distinct forms of peritoneal sclerosis. The majority of studies to date have investigated factors that contribute to “simple” sclerosis, although it remains possible that similar mechanisms are amplified in patients who develop encapsulated peritoneal sclerosis. The cellular elements that promote peritoneal sclerosis include the mesothelial cells, peritoneal fibroblasts and inflammatory cells. Factors that stimulate these cells to promote peritoneal fibrosis and neoangiogenesis, both inherent in the development of peritoneal sclerosis, include cytokines that are induced by exposure of the peritoneal membrane to high concentrations of glucose, advanced glycation of the peritoneal membrane and oxidative stress. The cumulative exposure to bioincompatible dialysate is likely to have an etiological role as the duration of dialysis correlates with the likelihood of developing peritoneal sclerosis. Indeed peritoneal dialysis using more biocompatible fluids has been shown to reduce the development of peritoneal sclerosis. The individual contribution of the factors implicated in the development of peritoneal sclerosis will only be determined by large scale peritoneal biopsy registries, which will be able to prospectively incorporate clinical and histological data and support clinical decision making.

scholarly journals A164 UPTAKE OF FECAL CALPROTECTIN IN PRACTICE: PATTERNS IN A TERTIARY GI REFERRAL CENTRE

2020 ◽  
Vol 3 (Supplement_1) ◽  
pp. 28-30
Author(s):  
A Kundra ◽  
T Ritchie ◽  
M Ropeleski
Keyword(s):  
Medical Therapy ◽  
Bowel Disease ◽  
Large Scale ◽  
Clinical Decision Making ◽  
Practice Patterns ◽  
Clinical Decision ◽  
Fecal Calprotectin ◽  
Time Interval ◽  
Chart Audit ◽  
Frequency Pattern

Abstract Background Fecal Calprotectin (FC) is helpful in distinguishing functional from organic bowel disease. Also, it has proven useful in monitoring disease activity in inflammatory bowel disease (IBD). The uptake of its use in clinical practice has increased considerably, though access varies significantly. Studies exploring current practice patterns among GI specialists and how to optimize its use are limited. In 2017, Kingston Health Sciences Centre (KHSC) began funding FC testing at no cost to patients. Aims We aimed to better understand practice patterns of gastroenterologists in IBD patients where there is in house access to FC assays, and to generate hypotheses regarding its optimal use in IBD monitoring. We hypothesize that FC is not being used in a regular manner for monitoring of IBD patients. Methods A retrospective chart audit study was done on all KHSC patients who had FC testing completed from 2017–2018. Qualitative data was gathered from dictated reports using rigorous set definitions regarding indication for the test, change in clinical decision making, and frequency patterns of testing. Specifically, change in use for colonoscopy or in medical therapy was coded only if the dictated note was clear that a decision hinged largely on the FC result. Frequency of testing was based on test order date. Reactive testing was coded as tests ordered to confirm a clinical flare. Variable testing was coded where monitoring tests that varied in intervals greater than 3 months and crossed over the other set frequency codes. Quantitative data regarding FC test values, and dates were also collected. This data was then analyzed using descriptive statistics. Results Of the 834 patients in our study, 7 were under 18 years old and excluded. 562(67.34%) of these patients had a pre-existing diagnosis of IBD; 193 (34%) with Ulcerative Colitis (UC), 369 (66%) with Crohn’s Disease (CD). FC testing changed the clinician’s decision for medical therapy in 12.82% of cases and use for colonoscopy 13.06% of the time for all comers. Of the FC tests, 79.8% were sent in a variable frequency pattern and 2.68% with reactive intent. The remaining 17.5% were monitored with a regular pattern, with 8.57% patients having their FC monitored at regular intervals greater than 6 months, 7.68% every 6 months, and 1.25% less than 6 months. The average FC level of patients with UC was 356.2ug/ml and 330.6 ug/ml for CD. The mean time interval from 1st to 2nd test was 189.6 days. Conclusions FC testing changed clinical decisions regarding medical therapy and use for colonoscopy about 13% of the time. FC testing was done variably 79.8% of the time, where as 17.5% of patients had a regular FC monitoring schedule. An optimal monitoring interval for IBD flares using FC for maximal clinical benefit has yet to be determined. Large scale studies will be required to answer this question. Funding Agencies None

scholarly journals Multiparametric MR mapping in clinical decision-making for diffuse liver disease

2020 ◽  
Vol 45 (11) ◽  
pp. 3507-3522 ◽  
Author(s):  
Helena B. Thomaides-Brears ◽  
Rita Lepe ◽  
Rajarshi Banerjee ◽  
Carlos Duncker
Keyword(s):  
Liver Disease ◽  
Liver Diseases ◽  
Clinical Decision Making ◽  
Clinical Care ◽  
Clinical Decision ◽  
Chronic Liver ◽  
Diffuse Liver Disease ◽  
Treatment Pathway ◽  
Recent Developments ◽  
Potential Applications

Abstract Accurate diagnosis, monitoring and treatment decisions in patients with chronic liver disease currently rely on biopsy as the diagnostic gold standard, and this has constrained early detection and management of diseases that are both varied and can be concurrent. Recent developments in multiparametric magnetic resonance imaging (mpMRI) suggest real potential to bridge the diagnostic gap between non-specific blood-based biomarkers and invasive and variable histological diagnosis. This has implications for the clinical care and treatment pathway in a number of chronic liver diseases, such as haemochromatosis, steatohepatitis and autoimmune or viral hepatitis. Here we review the relevant MRI techniques in clinical use and their limitations and describe recent potential applications in various liver diseases. We exemplify case studies that highlight how these techniques can improve clinical practice. These techniques could allow clinicians to increase their arsenals available to utilise on patients and direct appropriate treatments.

scholarly journals Multiple Injuries to the Lower Urinary Tract: Two Cases and Comparison with the EAU Guidelines

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
N. Lumen ◽  
D. Sharma ◽  
Y. Abu-Ghanem ◽  
N. Djakovic ◽  
F. Kuehhas ◽  
...  
Keyword(s):  
Urinary Tract ◽  
Lower Urinary Tract ◽  
Clinical Decision Making ◽  
Case Reports ◽  
Clinical Decision ◽  
Pelvic Fractures ◽  
Urethral Injury ◽  
Concomitant Injuries ◽  
Strict Adherence ◽  
Lower Urinary

Blunt trauma to the lower urinary tract is usually associated with pelvic fractures. The European Association of Urology (EAU) provides guidelines to diagnose and treat these injuries. The guidelines summarise the available evidence and provide recommendations on diagnosis and treatment of these patients. Therefore, these guidelines are important adjuncts to the urologist and emergency physician in the clinical decision-making. However, strict adherence to the guidelines is not always easy or possible because of concomitant injuries obscuring the clinical picture. This is illustrated by two case reports of concomitant injuries of the lower urinary tract (bladder with urethral injury). The clinical decisions will be discussed point by point and should serve as a practical teaching moment for the reader.

scholarly journals Clinical value of measurable residual disease testing for assessing depth, duration, and direction of response in multiple myeloma

2020 ◽  
Vol 4 (14) ◽  
pp. 3295-3301
Author(s):  
Joaquin Martinez-Lopez ◽  
Sandy W. Wong ◽  
Nina Shah ◽  
Natasha Bahri ◽  
Kaili Zhou ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Clinical Decision Making ◽  
Residual Disease ◽  
Clinical Care ◽  
Progression Free Survival ◽  
Clinical Decision ◽  
Routine Practice ◽  
Clinical Value ◽  
The Impact ◽  
Measurable Residual Disease

Abstract Few clinical studies have reported results of measurable residual disease (MRD) assessments performed as part of routine practice. Herein we present our single-institution experience assessing MRD in 234 multiple myeloma (MM) patients (newly diagnosed [NDMM = 159] and relapsed [RRMM = 75]). We describe the impact of depth, duration, and direction of response on prognosis. MRD assessments were performed by next-generation sequencing of immunoglobulin genes with a sensitivity of 10−6. Those achieving MRD negativity at 10−6, as well as 10−5, had superior median progression-free survival (PFS). In the NDMM cohort, 40% of the patients achieved MRD negativity at 10−6 and 59% at 10−5. Median PFS in the NDMM cohort was superior in those achieving MRD at 10−5 vs <10−5 (PFS: 87 months vs 32 months; P < .001). In the RRMM cohort, 36% achieved MRD negativity at 10−6 and 47% at 10−5. Median PFS was superior for the RRMM achieving MRD at 10−5 vs <10−5 (PFS: 42 months vs 17 months; P < .01). Serial MRD monitoring identified 3 categories of NDMM patients: (A) patients with ≥3 MRD 10−6 negative samples, (B) patients with detectable but continuously declining clonal numbers, and (C) patients with stable or increasing clonal number (≥1 log). PFS was superior in groups A and B vs C (median PFS not reached [NR], NR, 55 respectively; P < .001). This retrospective evaluation of MRD used as part of clinical care validates MRD as an important prognostic marker in NDMM and RRMM and supports its use as an endpoint in future clinical trials as well as for clinical decision making.

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