scholarly journals The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

2022 ◽  
Author(s):  
Marina T DiStefano ◽  
Scott Goehringer ◽  
Lawrence Babb ◽  
Fowzan S Alkuraya ◽  
Joanna Amberger ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Genomic Medicine ◽  
Evidence Base ◽  
Delphi Survey ◽  
Variant Interpretation ◽  
Modified Delphi ◽  
Survey Responses ◽  
Unique Genes

PURPOSE: Several groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence base for the role of a gene in disease, and a single harmonized resource were lacking. To tackle this issue, the Gene Curation Coalition (GenCC) was formed. METHODS: The GenCC drafted harmonized definitions for differing levels of gene-disease validity based on existing resources, and performed a modified Delphi survey with three rounds to narrow the list of terms. The GenCC also developed a unified database to display curated gene-disease validity assertions from its members. RESULTS: Based on 241 survey responses from the genetics community, a consensus term set was chosen for grading gene-disease validity and database submissions. As of December 2021, the database contains 15,241 gene-disease assertions on 4,569 unique genes from 12 submitters. When comparing submissions to the database from distinct sources, conflicts in assertions of gene-disease validity ranged from 5.3% to 13.4%. CONCLUSION: Terminology standardization, sharing of gene-disease validity classifications, and resolution of curation conflicts will facilitate collaborations across international curation efforts and in turn, improve consistency in genetic testing and variant interpretation.

scholarly journals Areas of agreement in the management of childhood non-infectious chronic anterior uveitis in the UK

2019 ◽  
Vol 104 (1) ◽  
pp. 11-16 ◽  
Author(s):  
Ameenat Lola Solebo ◽  
Jugnoo S Rahi ◽  
Andrew D Dick ◽  
Athimalaipet V Ramanan ◽  
Jane Ashworth ◽  
...  
Keyword(s):  
Anterior Uveitis ◽  
Severe Disease ◽  
Evidence Base ◽  
Future Research ◽  
Multiple Sources ◽  
Delphi Consensus ◽  
Modified Delphi ◽  
The Uk ◽  
High Level

Background/aimsThere is a paucity of high-level evidence to support the management of childhood uveitis, particularly for those children without juvenile idiopathic arthritis uveitis (JIA). We undertook a modified Delphi consensus exercise to identify agreement in the management of chronic anterior uveitis (CAU), the most common manifestation of childhood disease.MethodsA four-round, two-panel process was undertaken between June and December 2017. Paediatric uveitis specialists identified through multiple sources, including a multicentre network (the Paediatric Ocular Inflammation Group), were invited to participate. They were asked whether they agreed with items derived from existing guidelines on the management of JIA-U when extrapolated to the population of all children with CAU. Consensus was defined as agreement greater than or equal to 75% of respondents.Results26 of the 38 (68%) invited specialists participated with the exercise, and response rates were 100% for rounds one to three, and 92% for round four. Consensus was reached on 23 of the 44 items. Items for which consensus was not reached included management at presentation, use of systemic and periocular steroids for children with severe disease and the role of conventional steroid sparing immunosuppressants beyond methotrexate.ConclusionThe areas of management uncertainty at the level of the group, as indicated by absence of consensus, reflect the areas where the evidence base is particularly poor. Our findings identify the key areas for the future research needed to ensure better outcomes for this blinding childhood ocular inflammatory disorders.

Evaluating the survivor or the relatives of those who do not survive: the role of genetic testing

2017 ◽  
Vol 27 (S1) ◽  
pp. S19-S24 ◽  
Author(s):  
David J. Tester ◽  
Michael J. Ackerman
Keyword(s):  
Genetic Testing ◽  
Genetic Basis ◽  
Genetic Disorders ◽  
Genomic Medicine ◽  
Mendelian Inheritance ◽  
Societal Implications ◽  
Clinical Genetic ◽  
Clinical Genetic Testing ◽  
Specific Impact

AbstractThe molecular millennium has bestowed clinicians and researchers with the essential tools to identify the underlying genetic substrates for thousands of genetic disorders, most of which are rare and follow Mendelian inheritance patterns. The genetic basis of potentially lethal and heritable cardiomyopathies and cardiac channelopathies has been identified and are now better understood. Genetic testing for several of these heritable conditions has made its transition from discovery through translation and have been commercially available clinical tests for over a decade. Now that clinical genetic testing is available more readily and delivers a disease-specific impact across the triad of medicine – diagnostic, prognostic, and therapeutic – it is important for the community of cardiologists to not only be familiar with the language of genomic medicine but to also be wiser users and even wiser interpreters of genetic testing so that wise decisions can be rendered for those patients and their families being evaluated with respect to the presence or absence of one of these potentially lethal yet highly treatable genetic disorders. The purpose of this review is to provide the reader with a foundational understanding of genetic testing in clinical cardiology. Here, we will present some benefits of genetic testing: indications for either post-mortem genetic testing for the major cardiomyopathies and channelopathies or pre-mortem genetic testing among the decedent’s surviving relatives; the need for careful interpretation of genetic testing results; the importance of genetic counselling; and some points on the ethical and societal implications of genetic testing.

scholarly journals ТHE ROLE OF GENETIC TESTING FOR OPTIMAL ANTIPLATELET THERAPY SELECTION IN THE TREATMENT OF CORONARY ARTERY DISEASE PATIENTS

2014 ◽  
Vol 13 (2) ◽  
pp. 71-75
Author(s):  
S. T. Matskeplishvili ◽  
Y. E. Arutyunova
Keyword(s):  
Coronary Artery Disease ◽  
Genetic Testing ◽  
Coronary Artery ◽  
Antiplatelet Therapy ◽  
Life Quality ◽  
Evidence Base ◽  
Artery Disease ◽  
Improved Methods ◽  
Selection Of

The studies of coronary heart disease as a cause of reduced life quality and disability in population led to improved methods of diagnosis and treatment of this disease. To date, accumulated large evidence base supports the use of DAT (dual antiplatelet therapy) in patients with coronary artery disease after PCI. According to the same data some patients still develop severe complications, i. e. stent thrombosis. In this regard, recent years there is increasing importance of the genetic testing for selection of the optimal antiplatelet therapy in patients with coronary artery disease.

scholarly journals Primary Care Physicians’ Knowledge, Attitudes, and Experience with Personal Genetic Testing

2019 ◽  
Vol 9 (2) ◽  
pp. 29 ◽  
Author(s):  
Susanne B. Haga ◽  
Esther Kim ◽  
Rachel A. Myers ◽  
Geoffrey S. Ginsburg
Keyword(s):  
Primary Care ◽  
Genetic Testing ◽  
Primary Care Physicians ◽  
Health Knowledge ◽  
Genomic Medicine ◽  
Primary Care Providers ◽  
Test Results ◽  
Care Providers ◽  
Direct To Consumer

Primary care providers (PCPs) will play an important role in precision medicine. However, their lack of training and knowledge about genetics and genomics may limit their ability to advise patients or interpret or utilize test results. We evaluated PCPs’ awareness of the role of genetics/genomics in health, knowledge about key concepts in genomic medicine, perception/attitudes towards direct-to-consumer (DTC) genetic testing, and their level of confidence/comfort in discussing testing with patients prior to and after undergoing DTC testing through the 23andMe Health + Ancestry Service. A total of 130 PCPs completed the study. Sixty-three percent were board-certified in family practice, 32% graduated between 1991 and 2000, and 88% had heard of 23andMe prior to the study. Seventy-two percent decided to participate in the study to gain a better understanding about testing. At baseline, 23% of respondents indicated comfort discussing genetics as a risk factor for common diseases, increasing to 59% after undergoing personal genetic testing (PGT) (p < 0.01). In summary, we find that undergoing PGT augments physicians’ confidence, comfort, and interest in DTC testing.

scholarly journals 466 Resection or Enucleation for Extremely Giant Hepatic Haemangiomata? A Case Report and Review of The Literature

2021 ◽  
Vol 108 (Supplement_2) ◽  
Author(s):  
R E Fraser ◽  
G R Layton ◽  
L L Kuan ◽  
A R Dennison
Keyword(s):  
Expectant Management ◽  
Evidence Base ◽  
Primary Treatment ◽  
Cavernous Haemangioma ◽  
Liver Tumours ◽  
Case Presentation ◽  
Best Management ◽  
Anatomical Liver Resection ◽  
Benign Liver

Abstract Background Cavernous hepatic haemangiomas are benign liver tumours and although common when small, giant haemangiomas (usually accepted as being greater than 10cm) are infrequent. Treatment is indicated in patients who are symptomatic or if diagnosis is unclear, although with giant haemangiomas, many support expectant management of asymptomatic lesions due to the risk of major complications. Traditionally hepatic resection has been the primary treatment option for these lesions, but a variety of other techniques, including enucleation, have been described as safe and effective alternatives. There remains equipoise in respect of the best management of giant haemangiomas above 10cm. Cases of such size are rare and so there is a paucity of data available. Case presentation We present a case of a 65-year-old male who underwent successful anatomical liver resection for a 5kg giant cavernous haemangioma of 26cm diameter following its incidental identification during an ultrasound scan. We also discuss and compare the role of resection and enucleation for the treatment of haemangiomata greater than 20cm in diameter. Conclusions This case demonstrates successful resection of an unusually giant haemangioma which, in contrast to the majority of literature, provides a valuable addition to the limited evidence base for management of this condition by anatomical resection.

scholarly journals Dataset on SARS-CoV-2 non-pharmaceutical interventions in Brazilian municipalities

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Andreza Aruska de Souza Santos ◽  
Darlan da Silva Candido ◽  
William Marciel de Souza ◽  
Lewis Buss ◽  
Sabrina L. Li ◽  
...  
Keyword(s):  
Local Governments ◽  
Federal District ◽  
Social Distancing ◽  
Survey Responses ◽  
Municipal Level ◽  
Pharmaceutical Interventions

AbstractBrazil has one of the fastest-growing COVID-19 epidemics worldwide. Non-pharmaceutical interventions (NPIs) have been adopted at the municipal level with asynchronous actions taken across 5,568 municipalities and the Federal District. This paper systematises the fragmented information on NPIs reporting on a novel dataset with survey responses from 4,027 mayors, covering 72.3% of all municipalities in the country. This dataset responds to the urgency to track and share findings on fragmented policies during the COVID-19 pandemic. Quantifying NPIs can help to assess the role of interventions in reducing transmission. We offer spatial and temporal details for a range of measures aimed at implementing social distancing and the dates when these measures were relaxed by local governments.

The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care

2021 ◽  
Author(s):  
Salma Shickh ◽  
◽  
Sara A. Rafferty ◽  
Marc Clausen ◽  
Rita Kodida ◽  
...  
Keyword(s):  
Genomic Medicine ◽  
Patient Centered Care ◽  
Digital Tools ◽  
Patient Centered ◽  
Centered Care

scholarly journals Gut microbiota influence in type 2 diabetes mellitus (T2DM)

Gut Pathogens ◽  
2021 ◽  
Vol 13 (1) ◽  
Author(s):  
A. L. Cunningham ◽  
J. W. Stephens ◽  
D. A. Harris
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Gut Microbiota ◽  
Potential Role ◽  
Evidence Base ◽  
Human Metabolism ◽  
Altered Glucose

AbstractA strong and expanding evidence base supports the influence of gut microbiota in human metabolism. Altered glucose homeostasis is associated with altered gut microbiota, and is clearly associated with the development of type 2 diabetes mellitus (T2DM) and associated complications. Understanding the causal association between gut microbiota and metabolic risk has the potential role of identifying susceptible individuals to allow early targeted intervention.

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