ISO/TR 25313:2025

Technical
Report
ISO/TR 25313
First edition
Genomics informatics —
2025-11
Challenges and standardization
needs for secondary use of clinical
genomics data
Reference number
© ISO 2025
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ii
Contents Page
Foreword .iv
Introduction .v
1 Scope . 1
2 Normative references . 1
3 Terms, definitions, and symbols . 1
4 Secondary use of clinical genomics data . 1
4.1 Background and objectives of the survey .1
4.2 Relevant issues and challenges .2
5 Methodology . 3
5.1 Survey design . . .3
5.2 Data collection .3
6 Results . . 3
6.1 Participant profile .3
6.2 Status of secondary use of clinical genomics data .4
6.3 Standardization needs for secondary use of clinical genomics data.8
7 Discussion and conclusion .11
Bibliography .13

iii
Foreword
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This document was prepared by Technical Committee ISO/TC 215, Health informatics, Subcommittee SC 1,
Genomics informatics.
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iv
Introduction
Clinical genomics data can have primary and secondary use based on the goals for which they are collected.
In general, primary utilization is the use of genomics data that is directly applicable to individual patients,
whereas secondary use is the use of large-scale data to understand disease and develop treatments.
The secondary use of clinical genomics data involves the use of genomics information obtained from
patients during clinical care for purposes extending beyond the individual patient care. These purposes can
encompass research endeavors, quality enhancement initiatives, public health surveillance, and population
[3]
health studies. However, there is currently a lack of standardization around utilization criteria and
[4-9]
related policies for these secondary uses of clinical genomics data. The first step would be to survey
the international status, challenges, issues, and need for standardization in the secondary use of clinical
genomics data.
This document contains the results of a survey, provides an overview of the current international
perspectives on the secondary use of clinical genomics data based on responses from a limited group of
participants, and highlights the need for international standardization efforts. This document can serve
as a valuable resource for advancing the application of clinical genomics technologies and promoting
the development of essential standards by providing insights into the current state and complexities of
secondary use of clinical genomics data.

v
Technical Report ISO/TR 25313:2025(en)
Genomics informatics — Challenges and standardization
needs for secondary use of clinical genomics data
1 Scope
This document provides the findings of a global, country-based survey on the current state, challenges and
need for standardization in secondary use of clinical genomics data in medicine.
This document excludes the primary use of clinical genomics data as well as specific data, metadata, or
policies regarding the secondary use of clinical genomics data.
2 Normative references
There are no normative references in this document.
3 Terms, definitions, and symbols
For the purposes of this document, the following terms and definitions apply.
ISO and IEC maintain terminology databases for use in standardization at the following addresses:
— ISO Online browsing platform: available at https:// www .iso .org/ obp
— IEC Electropedia: available at https:// www .electropedia .org/
3.1
de-identification
process of removing the association between a set of identifying data and the data subject
[SOURCE: ISO 25237:2017, 3.20]
3.2
encryption
cryptographic transformation of data to produce ciphertext
[SOURCE: ISO 7498-2:1989, 3.3.28, modified — Note was removed.]
3.3
secondary use
non-direct care use of personal health information including but not limited to analysis, research, quality
and safety measurement, public health, payment, provider certification or accreditation, and marketing and
other business including strictly commercial activities
Note 1 to entry: Adapted from Reference [10].
4 Secondary use of clinical genomics data
4.1 Background and objectives of the survey
Clinical genomics data refers to data used in medical and clinical research based on an individual’s genomics
information. This data informs the understanding of an individual’s genetic or genomics characteristics and
provides insights into disease development, response to treatment, and prevention. Clinical genomics data

often plays a key role in uncovering the causes of disease or developing treatments for specific diseases. It
can also be used to develop personalized treatment and prevention strategies.
Primary utilization of clinical genomics data is focused on the diagnosis, prevention, and treatment of
individual patients. It involves understanding the genetic basis of a disease, often through genomics
analysis, and informs the creation of a personalized treatment plan for each patient. It focuses primarily
on the treatment of genetic diseases or genetically influenced conditions and aims to analyze a patient’s
individual genomics information to determine how to treat them using that information.
Secondary use of clinical genomics data refers to the broader use of large-scale genomics data collected for
medical outcomes or research. Rather than focusing on the treatment of individual patients, secondary use
supports the analysis of genetic variation in large datasets to deepen the understanding of the occurrence
and development of disease, as well as to develop new therapies. It focuses on understanding the genetic
causes of disease through the bulk analysis of genomics data, with the goal of improving disease prediction,
diagnosis, and treatment methods.
Due to these characteristics, secondary use of clinical genomics data demands a more nuanced consideration
compared to primary utilization. For instance, during the data collection phase, it raises questions regarding
the adequacy of initial informed consent for subsequent secondary uses. Similarly, in the data processing
phase, ensuring adequate normalization of heterogeneous data originating from diverse institutions poses a
significant challenge. Complicating matters further, these criteria exhibit notable variability across different
jurisdictions.
The objective of the survey discussed in this document is to ascertain the existing state and challenges
governing the secondary use of clinical genomics data on a country-specific basis while identifying areas
within the clinical genomics domain that necessitate standardization.
4.2 Relevant issues and challenges
A review of literature revealed that secondary use of clinical genomics data faces many more issues and
challenges than primary use, namely the following:
a) Data privacy and security: Managing sensitive genomics data presents significant privacy and security
[4,9,11]
challenges. Ensuring compliance with regulations such as General Data Protection Regulation
(GDPR) and Health Insurance Portability and Accountability Act (HIPAA) while enabling data sharing
for research purposes is a delicate balance.
b) Interoperability: Integrating data from diverse sources and platforms poses challenges due to variations
in data formats, standards, and vocabularies. Ensuring interoperability is important for effective data
exchange and analysis.
c) Informed consent: Obtaining informed consent for secondary use of genomics data raises ethical and
[12]
legal considerations. Facilitating individuals’ understanding of the potential risks and benefits of
data sharing for research purposes is key.
d) Data quality and standardization: Variability in data quality and standards across different institutions
[13]
and countries hampers data integration and analysis. Promoting consistency in data collection,
processing, and reporting improves data quality and comparability.
e) Ethical and social implications: The secondary use of genomics data raises complex ethical and social
[5,6]
issues, including concerns about data ownership, consent, discrimination, and equity. Addressing
these concerns requires careful consideration and stakeholder engagement.
f) Regulatory and policy frameworks: Developing regulatory and policy frameworks to govern the
secondary use of clinical genomics data is challenging due to rapid technological advancemen
...