PD ISO/TS 22693:2021 - Genomics Informatics: Structured Clinical Gene Fusion Report in Electronic Health Records

Standard Number: PD ISO/TS 22693:2021

Pages: 30

Release Date: June 15, 2021

ISBN: 978 0 539 00195 2

Status: Standard

Overview

In the rapidly evolving field of genomics, the need for standardized reporting of clinical gene fusion data is more critical than ever. The PD ISO/TS 22693:2021 standard provides a comprehensive framework for the structured reporting of gene fusion information within electronic health records (EHRs). This standard is essential for healthcare providers, researchers, and informatics professionals who are involved in the integration of genomic data into clinical practice.

Why Choose PD ISO/TS 22693:2021?

The integration of genomics into healthcare is transforming the way diseases are diagnosed and treated. Gene fusions, which occur when two previously separate genes become joined, can play a significant role in the development of various cancers and other genetic disorders. Accurate and consistent reporting of these gene fusions is crucial for effective patient management and treatment planning.

The PD ISO/TS 22693:2021 standard addresses this need by providing a structured format for reporting gene fusion data. This ensures that the information is easily accessible and interpretable by healthcare professionals, leading to improved patient outcomes. By adopting this standard, healthcare organizations can enhance their genomic data management capabilities and support personalized medicine initiatives.

Key Features

• Comprehensive Framework: The standard offers a detailed framework for the structured reporting of gene fusion data, ensuring consistency and accuracy across different healthcare settings.
• Interoperability: By standardizing the format of gene fusion reports, PD ISO/TS 22693:2021 facilitates interoperability between different EHR systems, enabling seamless data exchange and integration.
• Enhanced Data Quality: The structured format helps to improve the quality and reliability of genomic data, supporting better clinical decision-making and research outcomes.
• Support for Personalized Medicine: With the ability to accurately report and interpret gene fusion data, healthcare providers can offer more personalized treatment options tailored to individual patient needs.

Who Can Benefit from This Standard?

The PD ISO/TS 22693:2021 standard is designed for a wide range of stakeholders in the healthcare and genomics sectors, including:

• Healthcare Providers: Physicians, oncologists, and other healthcare professionals can use the standard to access and interpret gene fusion data, aiding in diagnosis and treatment planning.
• Clinical Laboratories: Laboratories involved in genomic testing can adopt the standard to ensure consistent and accurate reporting of gene fusion results.
• Health IT Professionals: Informatics specialists and EHR vendors can implement the standard to enhance data integration and interoperability within healthcare systems.
• Researchers: Genomics researchers can utilize the structured data format to support studies on gene fusions and their implications in various diseases.

Implementation and Adoption

Implementing the PD ISO/TS 22693:2021 standard requires collaboration between healthcare providers, laboratories, and IT professionals. By working together, these stakeholders can ensure that gene fusion data is accurately captured, reported, and utilized to its full potential. The adoption of this standard can lead to significant improvements in patient care, research, and the overall integration of genomics into healthcare.

Conclusion

The PD ISO/TS 22693:2021 standard represents a significant advancement in the field of genomics informatics. By providing a structured approach to reporting clinical gene fusion data, it supports the integration of genomic information into electronic health records, enhancing the quality and accessibility of this critical data. Whether you are a healthcare provider, researcher, or IT professional, adopting this standard can help you stay at the forefront of genomic medicine and improve patient outcomes.

PD ISO/TS 22693:2021

This standard PD ISO/TS 22693:2021 Genomics informatics. Structured clinical gene fusion report in electronic health records is classified in these ICS categories:

• 35.240.80 IT applications in health care technology

The document defines the data elements and their necessary metadata to implement a structured clinical gene fusion report whose data are generated by next generation sequencing technologies.

This document

1. describes the reporting guideline for RNA sequencing approaches focusing on detecting novel and known fusion partners,

2. defines the required data fields and their metadata for a structured clinical gene fusion report,

3. defines the optional data fields and their metadata,

4. covers the fusion gene from human specimen using whole transcriptome sequencing by next generation sequencing technologies for clinical practice and translational research,

5. does not cover the fusion gene detection using DNA sequencing methods,

6. does not cover the basic research and other scientific areas,

7. does not cover the other biological species,

— does not cover the Sanger sequencing methods, and

1. does not cover the other structural variations.

This document only defines the data elements and their metadata for the structured clinical sequencing report in electronic health records. Therefore, its layout can be designed based on the institutional decision if all elements are included as in this document.