Creating an Ontology‐Based Human Phenotyping System: The Rockefeller University Bleeding History Experience

Mauer, Andreas C.; Barbour, Edward M.; Khazanov, Nickolay A.; Levenkova, Natasha; Mollah, Shamim; Coller, Barry S.

doi:10.1111/j.1752-8062.2009.00147.x

Cited by 10 publications

(11 citation statements)

References 5 publications

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“…In addition to the BATs derived from the Italian group’s work, a number of other tools have been developed and published, including a comprehensive web-based system developed at Rockefeller University,(13;20**) tools designed exclusively for the assessment of menorrhagia, (29–31) and a questionnaire specific for the Quebec Platelet Disorder. (32) In order to consolidate the knowledge learned from these published studies, and to develop a consensus bleeding assessment tool, a Working Party sponsored by the VWF and Perinatal/Pediatric Hemostasis Subcommittees of the International Society on Thrombosis and Haemostasis/Scientific Standardization Committee (ISTH/SSC) was established in 2008.…”

Section: Diagnosis Of An Inherited Bleeding Disorder and The Predictimentioning

confidence: 99%

“…The ISTH-BAT was specifically designed to extend the utility of the earlier BATS, which were focused on mild bleeding disorders, to include severe bleeding disorders by incorporating information on both symptom frequency and severity. The ISTH-BAT has been mapped to a bleeding history ontology (20;33) (see Correlation Among Genotype, Phenotype, and Environment below) and is freely available to all investigators through a web-based system. (34)…”

Section: Diagnosis Of An Inherited Bleeding Disorder and The Predictimentioning

confidence: 99%

“…To address the need for improved standardization, Mauer et al developed a formal bleeding history ontology to comprehensively define all bleeding history symptoms and the relationship among the different signs, symptoms, and treatments. (20;34) They then developed a freely available web-based comprehensive questionnaire to standardize the collection of phenotypic, genotypic, and laboratory data, with the goal of encouraging investigators from all over the world to enter their de-identified patient data into an ever-growing database. They also published the results of their first use of the system in 500 healthy adults across broad racial and ethnic groups.…”

Section: Correlation Among Genotype Phenotype and Environmentmentioning

confidence: 99%

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Phenotyping bleeding

James

Coller

2012

Current Opinion in Hematology

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Purpose of review Although recorded evidence of phenotyping bleeding disorders extends back two millennia, standardization of phenotyping has only begun in the past half century. This was spurred by the need for greater precision in diagnosing disorders in order to select proper laboratory tests and treatment, and the realization that the bleeding history provides prognostic information about the future risk of bleeding with surgery or invasive procedures. Recent findings New bleeding assessment tools (BATs) have been developed to: 1. evaluate the relative bleeding risks associated with new anticoagulants and antiplatelet agents, 2. assess the efficacy of new thrombopoiesis stimulating agents in preventing hemorrhage in patients with immune thrombocytopenia, and 3. assess complex gene-gene and gene-environment interactions. New web-based systems allow many researchers to collaborate by sharing the same electronic phenotyping infrastructure. Major issues of validation remain, but at present, the data indicate that the new BATs have relatively high negative predictive value for excluding a significant bleeding disorder, but disappointingly low positive predictive values. Summary New instruments to phenotype bleeding have been developed to address a number of different important clinical and research goals. The improved standardization and opportunities for collaborative studies hold promise for maximizing diagnostic, prognostic, and scientific information.

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Section: Diagnosis Of An Inherited Bleeding Disorder and The Predictimentioning

confidence: 99%

Section: Diagnosis Of An Inherited Bleeding Disorder and The Predictimentioning

confidence: 99%

Section: Correlation Among Genotype Phenotype and Environmentmentioning

confidence: 99%

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Phenotyping bleeding

James

Coller

2012

Current Opinion in Hematology

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“…In addition to the BATs derived from the Italian group’s work, a number of other tools have been developed and published. A comprehensive ontology‐backed system was developed at Rockefeller University (Rockefeller University – Bleeding History Questionnaire [RU‐BHQ]) that facilitates the collection and collation of detailed, standardized bleeding histories [12]. This bleeding questionnaire is web‐based and freely available.…”

Section: Other Batsmentioning

confidence: 99%

The evolution and value of bleeding assessment tools

Rydz

James

2012

Journal of Thrombosis and Haemostasis

121

127

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Summary. A personal history of excessive mucocutaneous bleeding is a key component in the diagnosis of a number of mild bleeding disorders, including von Willebrand disease (VWD), platelet function disorders (PFD), and coagulation factor deficiencies. However, the evaluation of hemorrhagic symptoms is a well‐recognized challenge for both patients and physicians, because the reporting and interpretation of bleeding symptoms is subjective. As a result, bleeding assessment tools (BATs) have been developed and studied in a variety of clinical settings. This work has been pioneered by a group of Italian researchers, and the resultant ‘Vicenza Bleeding Questionnaire’ stands as the original BAT. In this review, we will discuss the modifications of the Vicenza Bleeding Questionnaire that have taken place over the years, as well as the validation studies that have been published. Other BATs that have been developed and published will be reviewed, as will the special situations of assessing pediatric bleeding as well as menorrhagia. Lastly, the clinical utility of BATs will be discussed including remaining challenges and future directions for the field.

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“…Finally, assessment of bleeding not only depends on the definition used, but also on the way in which patients are asked about their signs and symptoms of bleeding. Standardized surveys are used to assess for bleeding complications in patients with hematologic disorders 15 ; because antithrombotic therapy for ACS is an iatrogenic disruption of normal hemostatic mechanisms, such standardized questionnaires would add significant value to cardiovascular trials and clinical care. The study by Ndrepepa is the beginning of an important process whose goal is the complete understanding of the risks and benefits of caring for patients with ischemic heart disease, and ultimately finding the appropriate balance in order to further improve outcomes.…”

Section: Rao and Mehranmentioning

confidence: 99%