In:
eGEMs (Generating Evidence & Methods to improve patient outcomes), Ubiquity Press, Ltd., Vol. 4, No. 1 ( 2016-04-19), p. 6-
Abstract:
Introduction: In genomics and other fields, it is now possible to capture and
store large amounts of data in electronic medical records (EMRs). However, it is not clear if the routine accumulation of massive amounts of (largely uninterpretable) data
will yield any health benefits to patients. Nevertheless, the use of large-scale medical data is likely to grow. To meet emerging challenges and facilitate optimal use of
genomic data, our institution initiated a comprehensive planning process that addresses the needs of all stakeholders (e.g., patients, families, healthcare providers,
researchers, technical staff, administrators). Our experience with this process and a key genomics research project contributed to the proposed framework.Framework: We
propose a two-pronged Genomic Clinical Decision Support System (CDSS) that encompasses the concept of the “Clinical Mendeliome” as a patient-centric list of genomic variants
that are clinically actionable and introduces the concept of the “Archival Value Criterion” as a decision-making formalism that approximates the cost-effectiveness of
capturing, storing, and curating genome-scale sequencing data. We describe a prototype Genomic CDSS that we developed as a first step toward implementation of the
framework.Conclusion: The proposed framework and prototype solution are designed to address the perspectives of stakeholders, stimulate effective clinical use of genomic
data, drive genomic research, and meet current and future needs. The framework also can be broadly applied to additional fields, including other ‘-omics’ fields. We advocate
for the creation of a Task Force on the Clinical Mendeliome, charged with defining Clinical Mendeliomes and drafting clinical guidelines for their use.
Type of Medium:
Online Resource
ISSN:
2327-9214
DOI:
10.13063/2327-9214.1198
Language:
Unknown
Publisher:
Ubiquity Press, Ltd.
Publication Date:
2016
detail.hit.zdb_id:
2734659-6
