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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Introduction

With increasing people’s awareness of their right to know their own body and of the need for disease prevention, prediction, participation and personalized treatment, and with the rapid development of sequencing technology, genetic testing has expanded from clinical application to general consumer application. Direct-to-customer (DTC) testing refers to genetic testing that individuals can order without needing a clinician or a health care provider. These tests typically analyze DNA from a sample ‒ often saliva ‒ to provide insights into various genetic traits.

DTC tests cover a wide range of genetic analyses, including ancestry and heritage (understanding ethnic background and lineage), health and disease risk (identifying genetic predispositions to conditions such as cancer or heart disease), traits and lifestyle (examining genetic influences on taste preferences, hair loss, or lactose digestion), pharmacogenomics (assessing how genetic variations affect drug metabolism). DTC testing improves the awareness and attention to certain diseases, and it allows to adjust existing precaution under the guidance of professionals. It provides the necessary basis for the formation of personalized disease prevention programs. As an increasing prevalent commonality that connects clinical care and lifestyle, DTC testing has grown enormously both in practical and expected use, becoming more and more indispensable in the genetic testing ecosystem.

This document is based on current DTC industry data, combined with the needs of upstream and downstream industry users. It puts forward general requirements and suggestions on the data and technical content of genotype imputation technology, analysis and interpretation of results, as well as specific requirements in the development of a supporting evaluation model and database. With this document’s specifications as the basis of data analysis in the development of DTC testing products and services, consumers can have greater confidence in the conclusions drawn from the data, thereby facilitating greater confidence in DTC testing.

1 Scope

This document specifies the requirements for genetic data analysis relating to direct-to-consumer (DTC) testing, including preprocessing, detection site, evaluation models, the use of databases and the elements of assessment reports.

This document applies to the analysis of genetic data from DTC testing without the involvement of a health care provider.

2 Normative references

3 Terms and definitions

4 Data analysis process

4.1

4.2

4.3

5 Quality control of raw data

5.1 DNA chip data preprocessing and quality control requirements

5.2 Whole genome sequencing quality requirements

6 Evaluation model and database

6.1 DNA chip analysis requirements

6.2 WGS analysis requirements

7 Evaluation report

7.1 Interpretation

7.2 Use and disclosure of data

Bibliography