Motivation and Description

Genomics Information Exchange


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Clinical Genomic Information Exchange:Taking Stock of Genomic Integration Efforts


Description

The Genomics Information Exchange conference took place September 27th, 2013 at the Harvard Medical School following the HL7 Workgroup Meeting in Cambridge. Sponsored by the Center for Biomedical Informatics, it brought together representatives to inform each other of new and on-going genomic integration efforts (including the SMART Genomics API), as well as use cases of stakeholders. Its purpose was to foster collaboration between the different efforts. Among the attendees were various representatives from the Global Alliance, ClinVar, IBM Research, Partners HealthCare, Epic, Life Technologies, HL7, and more. Emerging technologies such as SMART Genomics API and FHIR were presented as well as existing models and on-going standards development.

Pictures

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Gil Alterovitz, Center for Biomedical Informatics
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Heidi Rehm, Partners HealthCare Center

for Personalized Genetic Medicine

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Kevin Hughes, Avon Foundation
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William Lane, Dana-Faber Cancer Institute
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Grahame Grieve, Health Intersections
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Jeremy Warner, Vanderbilt University
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Amnon Shabo, IBM Research
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Mollie Ullman-Cullere, Partners Healthcare
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Gil Alterovitz, Center for Biomedical Informatics
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Attendees
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Attendees


Slides




Video Recording

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Agenda 9am – 5pm

Welcome
9:00am – Gil Alterovitz, Center for Biomedical Informatics

Introduction
9:30am – Mollie Ullman-Cullere, Partners Healthcare, “HL7 Standards- Clinical/Medical Considerations”
9:45am – Amnon Shabo, IBM Research, “HL7 Standards- Design”

Session One
Topic: Communicating and Reporting Genetic Information
10:00am – Amnon Shabo, IBM Research, “HL7 Genetic Testing Reports”
10:30am – Gil Alterovitz, Center for Biomedical Informatics, “SMART Genomics API and HL7”
11:30am Discussion

Lunch
12:00 pm

Session Two
Topic: Emerging Technologies

12:30pm - Gil Alterovitz, Center for Biomedical Informatics, “SMART Genomics and Medical Applications”
1:00pm- Jeremy Warner, Vanderbilt University, “Interfacing with Cancer genomes”
1:30pm - Grahame Grieve, Health Intersections, “Fast Healthcare Interoperability Resources (FHIR)”
2:00pm – Heidi Rehm, Partners HealthCare Center for Personalized Genetic Medicine, “ClinVar”
2:30pm - Discussion

Session Three
Topic: Genomic information exchange and use-cases
3:00pm – Kevin Hughes, Avon Foundation, “Family History and HL7 Implementations”
3:30pm – William Lane, Dana-Faber Cancer Institute, “Laboratory Medicine”
4:00pm – Mollie Ullman-Cullere, Partners Healthcare, “HL7 Domain Analysis Model”
4:30pm - Discussion

Conclusion
5:00pm – Gil Alterovitz