Veterinarians’ Competence in Applying Basic Genetic Principles and Daily Implementation of Clinical Genetics: A Study in a University Environment

2021 ◽  
pp. e20210029
Author(s):  
Evelien Bogaerts ◽  
Else den Boer ◽  
Luc Peelman ◽  
Filip Van Nieuwerburgh ◽  
Hille Fieten ◽  
...  
Keyword(s):  
Genetic Test ◽  
Diagnostic Testing ◽  
Autosomal Recessive Inheritance ◽  
Clinical Genetics ◽  
Genetic Tests ◽  
University Environment ◽  
Daily Work ◽  
Electronic Survey ◽  
Apply Genetic ◽  
Future Education

Veterinarian competency in genetics is vital for a meaningful application of the rapidly growing number of genetic tests available for animals. We evaluated the use of genetic tests in the daily veterinary practice and the competency of university-employed veterinarians in applying basic principles of genetics in a clinical setting through an electronic survey with 14 cases and 7 statements on genetics. Ninety-one non-geneticist veterinarians from two veterinary faculties in two different countries responded. Almost half of the participants apply genetic tests during their daily work, with frequencies varying between weekly and once a year. The most common indication to request a genetic test was diagnostic testing of clinically ill patients. Although 80% of the veterinarians communicated the result of a genetic test themselves, only 56% of them found it “very to rather easy” to find the correct test, and only 32% of them always felt competent to interpret the result of the test. The number of correctly answered questions varied widely, with median scores of 9/14 (range 0–14) and 5/7 (range 0–7) for the cases and statements, respectively. Most difficulties were seen with recognition of pedigree inheritance patterns, while veterinarians scored better in breeding advice and probability of disease estimations. Veterinarians scored best on questions related to autosomal recessive inheritance, followed by complex, autosomal dominant, X-linked recessive, and X-linked dominant inheritance. This study exposed pain points in veterinarians’ knowledge and has led to the formulation of recommendations for future education and communication between laboratories, geneticists, and veterinarians.

Cancer specialists in the VA as early adopters of clinical genetic services.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 11029-11029
Author(s):  
Maren Theresa Scheuner ◽  
Paloma Sales ◽  
Mary Whooley ◽  
Katherine Hoggatt ◽  
Michael Kelley
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Genetic Test ◽  
Primary Care Providers ◽  
Precision Oncology ◽  
Genetic Tests ◽  
The Past ◽  
Cancer Specialists ◽  
Genetics Referral ◽  
Test Ordering

11029 Background: Genetic testing has become essential to delivery of cancer treatment, risk assessment, surveillance, and prevention. We sought to understand the use of genetic tests by clinicians in the Department of Veterans Affairs (VA). Methods: We administered a web-based survey to clinicians at 20 VA facilities with precision oncology programs. We excluded respondents if they were: not at one of the 20 VA facilities; not seeing patients in VA; not a physician, nurse practitioner (NP), physician assistant (PA), or pharmacist; a medical geneticist or specialty was not reported; or if the survey was incomplete. Using multiple logistic regression, we assessed the association between genetic test ordering, genetics referral, and clinician characteristics. Results: There were 909 (909/11,442, 8%) eligible respondents with 61% women and 64% under age 55. There were 571 physicians (63%), 200 NPs (22%), 93 pharmacists (10%), and 45 PAs 5(%). There were 361 (40%) primary care providers (PCPs), 90 (10%) cancer specialists, and 458 (50%) non-cancer specialists. Only 21% of clinicians reported feeling prepared to use genetic tests in their practice. In the past year, only 8% had ordered at least one multi-gene cancer test (germline, tumor or both), 12% a pharmacogenetic test, and 0.2%, an exome. Compared to physicians, NPs were 60% less likely (OR = 0.42, 0.23-0.77, p = 0.005), pharmacists, 80% less likely (OR = 0.22, 0.08-0.62, p = 0.005), and PAs, 90% less likely (OR = 0.08, 0.01-0.58, p = 0.01) to have ordered a genetic test. Compared to PCPs, cancer specialists were almost 5 times more likely to order a genetic test (OR = 4.74, 2.57-8.73, p < 0.0001); there was no difference in genetic test ordering between PCPs and non-cancer specialists. Among clinicians (n = 72) who had ordered cancer genetic tests, only about two-thirds were confident in knowing the indications for testing; discussing the potential benefits, harms and limitations of testing; understanding the test report; and knowing implications of results on disease management and prevention. Clinicians (n = 106) who had ordered pharmacogenetic tests had lower frequencies of confidence in these tasks. About half (52%) of the cancer specialists had referred patients to genetics in the past year; they were 1.8 times more likely than PCPs to refer (OR = 1.82, 1.10-3.03, p = 0.02), and non-cancer specialists were about 50% less likely than PCPs to refer (OR = 0.46, 0.33-0.64, p < 0.0001). Conclusions: In the VA, cancer specialists are integrating genetic testing and genetics referral into their practice more than PCPs and other specialists. However, genetic testing is underutilized, and many clinicians remain unprepared to use genetic tests in their practice. These results will inform workforce planning, clinician education, and development of clinical decision support to facilitate genetic risk assessment, informed consent, and ordering of genetic tests.

scholarly journals Hypertrophic Cardiomyopathy: An Overview of Genetics and Management

Biomolecules ◽  
2019 ◽  
Vol 9 (12) ◽  
pp. 878 ◽  
Author(s):  
Polakit Teekakirikul ◽  
Wenjuan Zhu ◽  
Helen C. Huang ◽  
Erik Fung
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Current Knowledge ◽  
Diagnostic Testing ◽  
Left Ventricular ◽  
Clinical Genetics ◽  
Incomplete Penetrance ◽  
Cardiac Symptoms ◽  
Genetic Landscape ◽  
Dominant Disease ◽  
Muscle Disorder

Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous cardiac muscle disorder with a diverse natural history, characterized by unexplained left ventricular hypertrophy (LVH), with histopathological hallmarks including myocyte enlargement, myocyte disarray and myocardial fibrosis. Although these features can cause significant cardiac symptoms, many young individuals with HCM are asymptomatic or mildly symptomatic. Sudden cardiac death (SCD) may occur as the initial clinical manifestation. Over the past few decades, HCM has been considered a disease of sarcomere, and typically as an autosomal dominant disease with variable expressivity and incomplete penetrance. Important insights into the genetic landscape of HCM have enhanced our understanding of the molecular pathogenesis, empowered gene-based diagnostic testing to identify at-risk individuals, and offered potential targets for the development of therapeutic agents. This article reviews the current knowledge on the clinical genetics and management of HCM.

scholarly journals Healthcare provider diagnostic testing practices for identification of Clostridioides (Clostridium) difficile in children: an Emerging Infections Network survey

2019 ◽  
Vol 40 (3) ◽  
pp. 276-280 ◽  
Author(s):  
Larry K. Kociolek ◽  
Preeta K. Kutty ◽  
Philip M. Polgreen ◽  
Susan E. Beekmann
Keyword(s):  
Clostridium Difficile ◽  
Infectious Diseases ◽  
Healthcare Provider ◽  
Neonatal Intensive Care ◽  
Diagnostic Testing ◽  
Emerging Infections ◽  
Electronic Survey ◽  
Testing Practices ◽  
E Mail ◽  
Infants And Young Children

AbstractObjective:To characterize healthcare provider diagnostic testing practices for identifying Clostridioides (Clostridium) difficile infection (CDI) and asymptomatic carriage in children.Design:Electronic survey.Methods:An 11-question survey was sent by e-mail or facsimile to all pediatric infectious diseases (PID) members of the Infectious Diseases Society of America’s Emerging Infections Network (EIN).Results:Among 345 eligible respondents who had ever responded to an EIN survey, 196 (57%) responded; 162 of these (83%) were aware of their institutional policies for CDI testing and management. Also, 159 (98%) respondents knew their institution’s C. difficile testing method: 99 (62%) utilize NAAT without toxin testing and 60 (38%) utilize toxin testing, either as a single test or a multistep algorithm. Of 153 respondents, 10 (7%) reported that formed stools were tested for C. difficile at their institution, and 76 of 151 (50%) reported that their institution does not restrict C. difficile testing in infants and young children. The frequency of symptom- and age-based testing restrictions did not vary between institutions utilizing NAAT alone compared to those utilizing toxin testing for C. difficile diagnosis. Of 143 respondents, 26 (16%) permit testing of neonatal intensive care unit patients and 12 of 26 (46%) treat CDI with antibiotics in this patient population.Conclusions:These data suggest that there are opportunities to improve CDI diagnostic stewardship practices in children, including among hospitals using NAATs alone for CDI diagnosis in children.

scholarly journals Genetic testing for Hennekam syndrome

2018 ◽  
Vol 2 (s1) ◽  
pp. 16-18
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Matteo Bertelli
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Autosomal Recessive ◽  
Genetic Test ◽  
Autosomal Recessive Inheritance ◽  
Lymphatic Malformation ◽  
Recessive Inheritance ◽  
Test Protocol ◽  
Research Findings ◽  
Hennekam Syndrome

Abstract Hennekam Syndrome (HS) is a combination of congenital lymphatic malformation, lymphangiectasia and other disorders. It is a very rare disorder with autosomal recessive inheritance. We developed the test protocol “Hennekam Syndrome” on the basis of the latest research findings and diagnostic protocols on lymphatic malformation in HS. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

“What About Your Genes?” Ethical, Legal, and Policy Dimensions of Genetics in the Workplace

1997 ◽  
Vol 16 (1) ◽  
pp. 57-75 ◽  
Author(s):  
Trudo Lemmens
Keyword(s):  
Genetic Testing ◽  
Bargaining Power ◽  
Ethical Issues ◽  
Genetic Test ◽  
Genetic Data ◽  
Scientific Validity ◽  
Genetic Tests ◽  
Antidiscrimination Law ◽  
Harm To Others

Although few companies are currently applying genetic tests or using genetic data, further developments in genetics will likely increase the role of genetics in the workplace. This article discusses the complex ethical issues raised by the variety of genetic tests that could become available and proposes guidelines for dealing with genetics in the workplace. It discusses how the results of genetic testing could be used for employment purposes, and argues that the existence of unequal bargaining power in the workplace limits the validity of consent as a basis for policymaking. Instead, two specific justifications for genetic testing in the workplace are proposed: the protection of health and the avoidance of harm to others. The author suggests that genetic testing should be permitted only in exceptional circumstances and that every genetic test should be evaluated on its scientific validity and submitted to rigorous review. Existing antidiscrimination law proves to be a useful model for examining the rationality and proportionality of genetic testing in the workplace.

scholarly journals Genetic Tests and Inter-Temporal Screening in Competitive Insurance Markets

2009 ◽  
Vol 9 (1) ◽  
Author(s):  
Winand Emons
Keyword(s):  
Finite Number ◽  
Genetic Test ◽  
Insurance Markets ◽  
Genetic Tests ◽  
Gene Carriers ◽  
Genetic Status ◽  
Successive Generations

Abstract We consider successive generations of non-altruistic individuals carrying either a good or bad gene. Daughters are more likely to inherit their mother's gene. Competitive insurers can perform a genetic test revealing an agent's gene. They can condition their quotes on the agent's or on her ancestors' genetic status. In equilibrium, generation one is bribed to take the test with an unconditional premium. The insurer uses this information to profitably screen a finite number of generations of their offspring. The offspring of good-gene carriers subsidize the tested generation.

Impact of genetic tests on survivors of paediatric sudden cardiac arrest

2021 ◽  
pp. archdischild-2020-321532
Author(s):  
Shuenn-Nan Chiu ◽  
Jyh-Ming Jimmy Juang ◽  
Wei-Chieh Tseng ◽  
Wen-Pin Chen ◽  
Ni-Chung Lee ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Genetic Test ◽  
Age At Onset ◽  
Disease Onset ◽  
Sudden Cardiac Arrest ◽  
Shock Rate ◽  
Composite Panel ◽  
Long Qt ◽  
Genetic Tests ◽  
Pathogenic Variants

ObjectiveTo retrospectively investigate the clinical spectrum, genetic profiles and outcomes of survivors of paediatric sudden cardiac arrest (SCA).Design and patientsAll 66 patients (aged 1–20 years), with unexpected SCA or syncope related to ventricular tachycardia (VT)/fibrillation and who survived to discharge from a tertiary centre, were enrolled from 1995 to 2018. Of these, 30 with underlying diseases prior to the events were excluded. Whole-exome sequencing targeting 384 channelopathy and cardiomyopathy-related genes (composite panel) was conducted to identify the possible genetic variants/mutations.ResultsA total of 36 patients were enrolled. Male adolescents predominated (66.7%), and the median age at onset was 13.3 years. Events occurred most often during exercise and daily activities. The yield rate of the genetic test was 84.6% (22/26); 14 had pathogenic variants; and 8 had likely pathogenic variants. The most common diagnoses were long QT in nine (25%), catecholaminergic polymorphic VT in six patients (16.7%), but other long QT and cardiomyopathy genes were also detected in eight patients (30.7%). The 10-year transplantation-free survival rate was 87.8% and was better for those who received genetic tests initially at the disease onset. An implantable cardioverter–defibrillator was implanted in 55.6% of the patients, with an appropriate shock rate of 61.1%. The defibrillator shock rate was lower for those who received composite panel initially.ConclusionSurvivors of SCA in the paediatric population had favourable long-term outcomes aided by genetic test. A broad composite genetic panel brings extra diagnostic value in the investigation of ventricular fibrillation/sudden cardiac death.

F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency

2017 ◽  
Vol 117 (08) ◽  
pp. 1455-1464 ◽  
Author(s):  
Gabriele Quintavalle ◽  
Federica Riccardi ◽  
Gianna Rivolta ◽  
Davide Martorana ◽  
Caterina Di Perna ◽  
...  
Keyword(s):  
Diagnostic Testing ◽  
Autosomal Recessive Inheritance ◽  
Large Cohort ◽  
Factor Vii ◽  
Common Mechanism ◽  
Poor Correlation ◽  
Severe Bleeding ◽  
Bleeding Tendency ◽  
Large Deletions ◽  
Fvii Deficiency

SummaryCongenital factor VII (FVII) deficiency is a rare bleeding disorder caused by mutations in F7 gene with autosomal recessive inheritance. A clinical heterogeneity with poor correlation with FVII:C levels has been described. It was the objective of this study to identify genetic defects and to evaluate their relationships with phenotype in a large cohort of patients with FVII:C<50%. One hundred twenty-three probands were genotyped for F7 mutations and three polymorphic variants and classified according to recently published clinical scores. Forty out of 123 patients (33?%) were symptomatic (43 bleedings). A severe bleeding tendency was observed only in patients with FVII:C<0.10%. Epistaxis (11%) and menorrhagia (32% of females in fertile age) were the most frequent bleedings. Molecular analysis detected 48 mutations, 20 not reported in the F7 international databases. Most mutations (62%) were missense, large deletions were 6.2%. Compound heterozygotes/homozygotes for mutations presented lower FVII:C levels compared to the other classes (Chi2=43.709, p<0,001). The polymorphisms distribution was significantly different among the three F7 genotypic groups (Chi2=72.289, p<0,001). The presence of truncating mutations was associated with lowest FVII:C levels (Chi2=21.351, p=0.002). This study confirms the clinical and molecular variability of the disease and the type of symptoms. It shows a good correlation between the type of F7 mutation and/or polymorphisms and FVII:C levels, without a direct link between FVII:C and bleeding tendency. The results suggest that large deletions are underestimated and that they represent a common mechanism of F7 gene inactivation which should always be investigated in the diagnostic testing for FVII deficiency.

scholarly journals Mutational and Susceptibility Genetics Are Different Clinical Paradigms

1997 ◽  
Vol 9 (1) ◽  
pp. 7-10
Author(s):  
Allen D. Roses
Keyword(s):  
Alzheimer’S Disease ◽  
Positive Predictive Value ◽  
Empirical Data ◽  
Predictive Value ◽  
Diagnostic Testing ◽  
Genetic Tests ◽  
The Past ◽  
Consensus Conferences ◽  
High Positive Predictive Value ◽  
Clinical Paradigm

During the past 2 years there have been several consensus conferences on diagnostic testing for Alzheimer's disease (AD), specifically related to the use of new genetic tests (Farrer et al., 1995; Relkin et al., 1996). Unfortunately there is an appearance of controversy between some of the published opinions and the empirical data (Saunders et al., 1996; Slooter et al., 1996). The clinical paradigm for AD has changed from “ruling out” a small list of reversible and treatment causes of dementia to “ruling in” the diagnosis of AD using adjunctive genetic tests with a high positive predictive value for some patients (Roses & Saunders, in press).

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