Refining Information Technology Support for Genetics in Medicine

NCT01225978 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 40

Last updated 2014-01-24

No results posted yet for this study

Summary

The clinical use of genetic testing is expanding and, as a result, the number of variants identified in patients is growing. Knowledge of the clinical impact of these variants improves over time. However, the combination of more testing and the rapid evolution of genetic knowledge make it impossible for clinicians to fully account for the latest implications of their patients' genetic profiles as patient care decisions are made. This proposed study plans to enhance and evaluate IT infrastructure developed to provide timely genetic variant updates and patient search functionality to clinicians to assist in optimizing patient care.

Conditions

Interventions

DEVICE

GeneInsight Clinic (GIC)

GeneInsight Clinic (GIC) is a clinical interface tool that provides genetics IT support infrastructure designed to address key genetic data and knowledge management issues. The GIC enables the delivery of patient specific alerts when new information is learned about a variant after it has been reported to a treating clinician. The prototype for this study shows multiple tests, Hypertrophic Cardiomyopathy test updates, hearing loss test updates and broad spectrum genotyping test updates. Our intention is to build this functionality in a scalable manner that will ultimately accommodate whole genome sequencing.

Sponsors & Collaborators

  • National Institutes of Health (NIH)

    collaborator NIH
  • National Library of Medicine (NLM)

    collaborator NIH
  • Brigham and Women's Hospital

    lead OTHER

Principal Investigators

  • David W Bates, MD, MSc · Brigham and Women's Hospital, Harvard Medical School, Partners HealthCare, Inc.

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2009-09-30
Primary Completion
2012-12-31
Completion
2014-12-31

Countries

  • United States
  • Canada

Study Locations

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Entities

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01225978 on ClinicalTrials.gov