scholarly journals Physician-Reported Benefits and Barriers to Clinical Implementation of Genomic Medicine: A Multi-Site IGNITE-Network Survey

2018 ◽  
Vol 8 (3) ◽  
pp. 24 ◽  
Author(s):  
Aniwaa Owusu Obeng ◽  
Kezhen Fei ◽  
Kenneth Levy ◽  
Amanda Elsey ◽  
Toni Pollin ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Utility ◽  
Genomic Medicine ◽  
Clinical Implementation ◽  
Provider Attitudes ◽  
Potential Barriers ◽  
Risk Patients ◽  
Clinical Tools ◽  
Genetic Medicine ◽  
And Training

Genetic medicine is one of the key components of personalized medicine, but adoption in clinical practice is still limited. To understand potential barriers and provider attitudes, we surveyed 285 physicians from five Implementing GeNomics In pracTicE (IGNITE) sites about their perceptions as to the clinical utility of genetic data as well as their preparedness to integrate it into practice. These responses were also analyzed in comparison to the type of study occurring at the physicians’ institution (pharmacogenetics versus disease genetics). The majority believed that genetic testing is clinically useful; however, only a third believed that they had obtained adequate training to care for genetically “high-risk” patients. Physicians involved in pharmacogenetics initiatives were more favorable towards genetic testing applications; they found it to be clinically useful and felt more prepared and confident in their abilities to adopt it into their practice in comparison to those participating in disease genetics initiatives. These results suggest that investigators should explore which attributes of clinical pharmacogenetics (such as the use of simplified genetics-guided recommendations) can be implemented to improve attitudes and preparedness to implement disease genetics in care. Most physicians felt unprepared to use genetic information in their practice; accordingly, major steps should be taken to develop effective clinical tools and training strategies for physicians.

scholarly journals The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

2020 ◽  
Author(s):  
Jacqueline A. Odgis ◽  
Katie M. Gallagher ◽  
Sabrina A. Suckiel ◽  
Katherine E. Donohue ◽  
Michelle A. Ramos ◽  
...  
Keyword(s):  
Randomized Controlled Trial ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Diagnostic Yield ◽  
Controlled Trial ◽  
Genomic Medicine ◽  
Whole Genome ◽  
Diverse Populations ◽  
Randomized Controlled ◽  
Genomic Results

Background: Increasingly, genomics is informing clinical practice, but challenges remain for medical professionals lacking genetics expertise, and in access to and clinical utility of genomic testing for minority and underrepresented populations. The latter is a particularly pernicious problem due to the historical lack of inclusion of racially and ethnically diverse populations in genomic research and genomic medicine. A further challenge is the rapidly changing landscape of genetic tests, and considerations of cost, interpretation and diagnostic yield for emerging modalities like whole genome sequencing. Methods: The NYCKidSeq project is a randomized controlled trial recruiting 1,130 children and young adults predominantly from Harlem and the Bronx with suspected genetic disorders in three disease categories: neurologic, cardiovascular, and immunologic. Two clinical genetic tests will be performed for each participant, either proband, duo or trio whole-genome sequencing (depending on sample availability) and proband targeted gene panels. Clinical utility, cost and diagnostic yield of both testing modalities will be assessed. This study will evaluate the use of a novel, digital platform (GUÍA) to digitize the return of genomic results experience and improve participant understanding for English- and Spanish-speaking families. Surveys will collect data at three study visits; baseline (0 months), results disclosure visit (ROR1, +3 months), and follow up visit (ROR2, +9 months). Outcomes will assess parental understanding of and attitudes towards receiving genomic results for their child and behavioral, psychological and social impact of results. We will also conduct a pilot study to assess a digital tool called GenomeDiver designed to enhance communication between clinicians and genetic testing labs. We will evaluate GenomeDiver's ability to increase the diagnostic yield compared to standard practices, to improve clinician's ability to perform targeted reverse phenotyping, and to increase the efficiency of genetic testing lab personnel. Discussion: The NYCKidSeq project will contribute to the innovations and best practices in communicating genomic test results to diverse populations. This work will inform strategies for implementing genomic medicine in health systems serving diverse populations using methods that are clinically useful, technologically savvy, culturally sensitive, and ethically sound.

scholarly journals Recent developments in genetic/genomic medicine

2019 ◽  
Vol 133 (5) ◽  
pp. 697-708 ◽  
Author(s):  
Rachel H. Horton ◽  
Anneke M. Lucassen
Keyword(s):  
Genetic Testing ◽  
Treatment Options ◽  
Genomic Medicine ◽  
Healthcare Setting ◽  
Genomic Testing ◽  
Inpatient Setting ◽  
Technological Advances ◽  
Recent Developments ◽  
Unexpected Findings ◽  
Genetic Medicine

AbstractAdvances in genetic technology are having a major impact in the clinic, and mean that many perceptions of the role and scope of genetic testing are having to change. Genomic testing brings with it a greater opportunity for diagnosis, or predictions of future diagnoses, but also an increased chance of uncertain or unexpected findings, many of which may have impacts for multiple members of a person’s family. In the past, genetic testing was rarely able to provide rapid results, but the increasing speed and availability of genomic testing is changing this, meaning that genomic information is increasingly influencing decisions around patient care in the acute inpatient setting. The landscape of treatment options for genetic conditions is shifting, which has evolving implications for clinical discussions around previously untreatable disorders. Furthermore, the point of access to testing is changing with increasing provision direct to the consumer outside the formal healthcare setting. This review outlines the ways in which genetic medicine is developing in light of technological advances.

Behavioral Emergencies and Crises

2010 ◽  
pp. 739-762
Author(s):  
Phillip M. Kleespies ◽  
Justin M. Hill
Keyword(s):  
Mental Health ◽  
Risk Factors ◽  
High Risk ◽  
Work Environment ◽  
Emotional Impact ◽  
High Risk Patients ◽  
Risk Patients ◽  
Life Threatening ◽  
Behavioral Emergencies ◽  
And Training

This chapter illustrates the mental health clinician’s relationship with behavioral emergencies. The chapter begins by distinguishing the terms behavioral emergency and behavioral crisis, and underlying themes among all behavioral emergencies are identified. Given that most clinicians will face a behavioral emergency in their careers, the importance of enhancing the process of educating and training practitioners for such situations far beyond the minimal training that currently exists is highlighted. The chapter continues by exploring various aspects of evaluating and managing high-risk patients (i.e., those who exhibit violent tendencies toward themselves or others, and those at risk for victimization). It includes a discussion of the benefits and limitations to estimating life-threatening risk factors and specific protective factors. The chapter concludes by discussing the emotional impact that working with high-risk patients has on clinicians, and an emphasis is placed on the importance of creating a supportive work environment.

Clinical utility of genetic testing in kidney transplantation

2021 ◽  
Vol 132 ◽  
pp. S134
Author(s):  
Lauren Beretich ◽  
Sarah McCormick ◽  
Trudy McKanna ◽  
Hossein Tabriziani ◽  
Paul Billings ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Genetic Testing ◽  
Clinical Utility

scholarly journals Systematic evaluation of scoring methods for Ki67 as a surrogate for 21-gene recurrence score

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Soonmyung Paik ◽  
Youngmee Kwon ◽  
Moo Hyun Lee ◽  
Ji Ye Kim ◽  
Da Kyung Lee ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Recurrence Score ◽  
Predictive Marker ◽  
Labeling Index ◽  
Systematic Evaluation ◽  
Scoring Methods ◽  
Scoring Method ◽  
Ki67 Labeling Index ◽  
Risk Patients ◽  
Potential Clinical Utility

AbstractAlthough Ki67 labeling index is a potential predictive marker for chemotherapy benefit, its clinical utility has been limited by the lack of a standard scoring method resulting in poor interobserver reproducibility. Especially, there is no consensus on the use of average versus hotspot score for reporting. In order to determine the best method for Ki67 scoring and validate manual scoring method proposed by the International Ki67 Working Group (IKWG), we systematically compared average versus hotspot score in 240 cases with a public domain image analysis program QuPath. We used OncotypeDx Recurrence Score (RS) as a benchmark to compare the potential clinical utility of each scoring methods. Both average and hotspot scores showed statistically significant but only modest correlation with OncotypeDx RS. Only hotspot score could meaningfully distinguish RS low-risk versus high-risk patients. However, hotspot score was less reproducible limiting its clinical utility. In summary, our data demonstrate that utility of the Ki67 labeling index is influenced by the choice of scoring method.

scholarly journals Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

2021 ◽  
Author(s):  
Michael Abbott ◽  
Lynda McKenzie ◽  
Blanca Viridiana Guizar Moran ◽  
Sebastian Heidenreich ◽  
Rodolfo Hernández ◽  
...  
Keyword(s):  
Economic Evaluation ◽  
Genetic Testing ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Rare Diseases ◽  
Genomic Medicine ◽  
Future Research ◽  
Clinical Genetics ◽  
Whole Genome ◽  
Peace Of Mind

AbstractNovel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standard genetic testing and trio-based whole genome sequencing (WGS), in the context of the Scottish Genomes Partnership (SGP) study. We also explored what users value about genomic sequencing. Insights from the costing and value assessments will inform a subsequent economic evaluation of genomic medicine in Scotland. An average cost of £1,841 per singleton was estimated for the standard genetic testing pathway, with significant variability between phenotypes. WGS cost £6625 per family trio, but this estimate reflects the use of WGS during the SGP project and large cost savings may be realised if sequencing was scaled up. Patients and families valued (i) the chance of receiving a diagnosis (and the peace of mind and closure that brings); (ii) the information provided by WGS (including implications for family planning and secondary findings); and (iii) contributions to future research. Our costings will be updated to address limitations of the current study for incorporation in budget impact modelling and cost-effectiveness analysis (cost per diagnostic yield). Our insights into the benefits of WGS will guide the development of a discrete choice experiment valuation study. This will inform a user-perspective cost–benefit analysis of genome-wide sequencing, accounting for the broader non-health outcomes. Taken together, our research will inform the long-term strategic development of NHS Scotland clinical genetics testing services, and will be of benefit to others seeking to undertake similar evaluations in different contexts.

scholarly journals How do non-geneticist physicians deal with genetic tests? A qualitative analysis

2021 ◽  
Author(s):  
Laurent Pasquier ◽  
Guy Minguet ◽  
Sylvie Moisdon-Chataigner ◽  
Pascal Jarno ◽  
Philippe Denizeau ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Social Issues ◽  
Clinical Skills ◽  
Rapid Development ◽  
Genomic Medicine ◽  
Genetic Tests ◽  
Simple Fact ◽  
Medical Specialties ◽  
Management Procedure ◽  
Testing Practices

AbstractGenetic testing is accepted to be a common practice in many medical specialties. These genetic tests raise issues such as respect for basic rights, how to handle results and uncertainty and how to balance concerns for medical confidentiality with the rights of third parties. Physicians need help to deal with the rapid development of genomic medicine as most of them have received no specific training on the medical, ethical, and social issues involved. Analyzing how these professionals integrate genetic testing into the patient-provider relationship is essential to paving the way for a better use of genomics by all. We conducted a qualitative study comprising a series of focus groups with 21 neurologists and endocrinologists about their genetic testing practices in the western part of France. The interviews were transcribed and analyzed for major themes. We identified an automated care management procedure of genetic testing that affects patient autonomy. The simple fact of having a written consent cannot justify a genetic test given the stakes associated with the results. We also suggest orienting practices toward a systemic approach using a multidisciplinary team or network to provide resources for dealing with uncertainties in interpreting results or situations that require additional technical or clinical skills and, if necessary, to allow for joint consultations with both a geneticist and a non-geneticist medical specialist.

scholarly journals Genetic testing for color vision deficiency

2017 ◽  
Vol 1 (s1) ◽  
pp. 32-34
Author(s):  
Andi Abeshi ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Color Vision ◽  
Clinical Utility ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Color Vision Deficiency ◽  
Dark Adaptometry

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for color vision deficiency (CVD). Deuteranopia affects 1 in 12 males and is inherited in an X-linked recessive manner. It is associated with variations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303900) and OPN1MW (OMIM gene: 300821; OMIM disease: 303800) genes. Tritanopia has a prevalence of 1 in 10 000, is inherited in an autosomal dominant manner, and is related to variations in the OPN1SW (OMIM gene: 613522; OMIM disease: 190900) gene. Blue cone monochromatism has a prevalence of 1 in 100 000, is inherited in an X-linked recessive manner and is related to mutations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303700) and OPN1MW (OMIM gene: 300821; OMIM disease: 303700) genes. Clinical diagnosis is based on clinical findings, ophthalmogical examination, family history, electroretingraphy, color vision testing and dark adaptometry. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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