Empowering patients by increasing accessibility to clinical terminology
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Flash talk at Medical Library Association Pacific Northwest Chapter meeting in Portland, OR on October 18, 2016. http://pnc-mla.cloverpad.org/annual2016 Authors: Erin Foster, Mark Engelstad, Chris Mungall, Peter Robinson, Sebastian Kohler, Melissa Haendel and Nicole Vasilevsky
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Empowering patients by increasing accessibility to clinical terminology
- 1. Empowering patients by increasing accessibility to clinical terminology Erin D. Foster, Mark E. Engelstad, Chris Mungall, Peter Robinson, Sebastian Kohler, Melissa Haendel, Nicole A. Vasilevsky MLA/PNC October 18, 2016 vasilevs@ohsu.edu @n_vasilevsky @MonarchInit @hp_ontology
- 2. 10% of the US population has a rare disease
- 3. 80% of rare disease cases are genetic and present with distinct phenotypes
- 4. Human Phenotype Ontology Standardized vocabulary of phenotypic abnormalities encountered in human disease HPO currently contains approximately 12,000 terms (still growing)
- 5. How do we make HPO accessible so patients can phenotype themselves? HP:0000252 Pref Label: Microcephaly Synonyms: Decreased Head Circumference; Reduced Head Circumference; Small head circumference Suggested Synonyms : Small head; Abnormally small head; Small skull; Small cranium… Small headMicrocephaly https://commons.wikimedia.org/wiki/File:Microcephaly.png#/media/File:Microcephaly.png
- 6. Human Phenotype Ontology, now with 6,200 plain language synonyms for patients, families, and non-experts www.human-phenotype-ontology.org Apert’s Syndrome
- 7. Community Contributions Welcome HPO can be integrated into patient registries Promote accessibility of HPO to patients and interoperability and clinicians and researchers Enhance rare disease diagnosis www.human-phenotype-ontology.org
- 8. Any questions ? You can find me at: @n_vasilevsky vasilevs@ohsu.edu Thanks!
Editor's Notes
- 10% of the US population have a rare disease
- 80% of rare diseases have a underlying genetic cause. For rare and undiagnosed diseases, it is common that the phenotype profile does not match any known diseases, and the best candidate variants may be in genes about which we know very little. Rationale for HPO: We can use descriptions of their phenotypes to help inform these kinds of diagnoses, if we had a structured semantic way of representing phenotypes.
- The Human Phenotype Ontology fills this need.
- The HPO is a clinical terminology, but often times patients can be the best and most effective source of phenotyping information on their condition. However, not all patients are medical experts or have the time to commit to researching the medical literature. This project aims to make the clinical vocabulary more accessible to patients by adding layperson synonyms to the medical terminology in the HPO. This will also enhance the interoperability for clinicians, as they can search for more colloquial terms that patients may be using. -- Increase accessibility for patients Enhance interoperability for clinicians Enable crowdsourcing by citizen scientists
- 44% of the HPO is layperson
- There are a number of orgs, We are working with inspire and clingen to design layperson HPO validation exps Librarians can promote the HPO out to patients and clinicians alike.