ISO/TS TECHNICAL SPECIFICATION 20428 First edition 2017-05 Health informatics Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records Informatique de santé - Elements de données et leurs métadonnees pour décrire I'information structurée de la séquence génomique clinique dans les dossiers de santé électroniques Reference number ISO/TS20428:2017(E) International Organization for Standardization @ IS0 2017 ed without license from IHS IS0/TS 20428:2017(E) COPYRIGHT PROTECTED DOCUMENT IS0 2017,Published in Switzerland All rights reserved. Unless otherwise specified, no part of this publication may be reproduced or utilized otherwise in any form written permission. Permission can be requested from either ISO at the address below or ISO's member body in the country of the requester. ISO copyright office Ch. de Blandonnet 8 . CP 401 CH-1214 Vernier, Geneva, Switzerland Tel. +41 22 749 01 11 Fax +4122 749 09 47 [email protected] www.iso.org ensee-ZHEJIANG INSTOF STANDARDIzARoISQa7 - All rights reserved Not for Resale, 2017/8/21 02:18:37 IS0/TS 20428:2017(E) Contents Page Foreword ..V Introduction. ...vi 1 Scope. 2 Normative references 3 Terms and definitions 4 Abbreviated terms. 5 Use case scenario ..6 6 Composition of a clinical sequencing report 6.1 General 6.2 Overall interpretation in summary 6.3 Detailed contents .8 7 Fields and their nomenclature of required data .9 7.1 General. .9 7.2 Clinical sequencing orders. .10 7.2.1 General. ..10 7.2.2 Clinical sequencing order code ..10 7.2.3 Date and time.. ..10 7.2.4 Specimen information .11 7.3 Information on subject of care .11 7.3.1 General. ..11 7.3.2 Subject of care identifiers. .11 7.3.3 Subject of care name.. .11 7.3.4 Subject of care birth date .11 7.3.5 Subject of care sex.. .11 7.3.6 Subject of care ethnicity .11 7.4 Information on legally authorized person ordering clinical sequencing ..1 7.4.1 General .11 7.5 Performing laboratory .12 7.5.1 General. .12 7.5.2 Basic information on performing laboratory. .12 7.5.3 Information on report generator .12 7.5.4 Information of legally confirmed person on sequencing report .12 7.6 Associated diseases and phenotypes.. 12 7.7 Biomaterial information. .12 7.7.1 General 12 7.7.2 Types of sample .12 7.7.3 Genomic source class in biomaterial .12 7.7.4 Conditions of specimen that may limit adequacy of testing .12 7.8 Genetic variations. 13 7.8.1 General. ..13 7.8.2 Gene symbols and names .13 7.8.3 Sequence variation information .13 7.9 Classification of variants. .14 7.9.1 General. ..14 7.9.2 Classification of variants based on the pathogeny ..14 7.9.3 Classification of variants based on clinical relevance ..15 7.10 Recommended treatment .15 7.10.1 General .15 7.10.2 Classification of variants based on clinical relevance ..15 7.10.3 Clinical trial information .15 7.10.4 Known protocols related to a variant ..16 7.10.5 Other recommendation .16 ntemaionalganzation@S7-All rights reserved iii ISee=ZHEJIANG INST OF STANDARDIZATION C1 5956617 ovided by IHS under license with ISO ed without license from IHS Not for Resale, 2017/8/21 02:18:37