ISO/TS 20428 defines the composition and required data fields for structured clinical genomic sequencing reports. It covers variations identified from whole genome, exome, and targeted gene panel sequencing from human samples. The standard defines the composition of a report to include a summary, detailed pages with required and optional fields, and an overall interpretation. It requires fields for patient information, sample and variant details, and recommended treatments, and defines allowable values for the overall interpretation.

1. ISO/TS 20428
구조화된 임상유전체분석보고서
Soo-Yong Shin, PhD
Department of Computer Engineering
Kyung Hee University
2017. 06. 23
@2017년 춘계 의료정보학회

2. 유전체정보 표준화 노력들..

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유전자 패널검사 보험 수가 인정
http://www.epeople.go.kr/jsp/user/po/filterOff/puhe/UPoPuheView.jsp?app_no_c=1AC-1701-018512

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Samples

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ISO/NP 20391-1Biotechnology -- Cell Counting 2015-03-13
ISO/NP 20391-2Biotechnology -- Cell Counting 2015-06-15
ISO/NP 20786 Terminology for Biotechnology 2015-06-10
ISO/PWI 20386
Inventory development of existing standards, guidelines and other relevant documents as well as ter
minology related to ISO/TC 276 2015-03-09
ISO/PWI 20387 Biobanks, biological resource centres and specimen repositories 2015-02-19
ISO/PWI 20388 Collection, processing, storage and transportation technology criteria for animal germplasm 2015-02-19
ISO/PWI 20389 Collection, processing, conserving and transportation criteria for human genetic resources 2015-02-19
ISO/PWI 20390 Technical specifications for human biobanks and human bioresources in research and development 2015-02-19
ISO/PWI 20395 Quality considerations for targeted nucleic acid quantification methods 2015-02-19
ISO/PWI 20396 Methods to determine the concentration of total nucleic acids 2015-02-19
ISO/PWI 20397 Methods to evaluate the quality of the massive sequencing data 2015-02-19
ISO/PWI 20398 Methods to control bioreactor processes for cell culturing 2015-02-19
ISO/PWI 20399 Raw materials control for bioprocessing 2015-02-19
ISO/PWI 20404 Best practice in raw materials selection in the design of human cell therapy 1. manufacturing processes 2015-02-19
ISO/PWI 20688
Biotechnology -- Oligonucleotide synthesis -- General definitions and requirements for the quality of synt
hesized oligonucleotides 2015-03-27
ISO/PWI 20691 Downstream data processing and integration workflows 2015-04-21
ISO/TC 276 Ongoing Projects
Much more..

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Close meeting: contact Kim, Sookrae & KATS (cssd@kats.go.kr)

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Samples

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http://www.mfds.go.kr/index.do?mid=1161&seq=11001&cmd=v

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Samples

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Genome in a Bottle Consortium

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GIAB Reference Material
https://www-s.nist.gov/srmors/view_detail.cfm?srm=8398

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PrecisionFDA
https://precision.fda.gov/

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PrecisionFDA

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Samples

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Samples

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HL7 Clinical Genomics
http://www.hl7.org/Special/committees/clingenomics/

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Samples
HL7 Clinical Genomics WG
IT가 관여하는 모든 영역
표준화 노력 중
- CLIA workflow support
- Lab result interface
- …
- Structured document
- Pedigree

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Product of HL7 CG WG

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HL7 DAM: Clinical Sequencing

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HL7 FHIR Profile for Genetics
http://www.hl7.org/FHIR/observation-genetics-cg-prf-1a.html

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HL7 FHIR Genomics
Implementation Guideline
http://hl7.org/fhir/2017Jan/genomics.html
Other helpful site - http://projects.iq.harvard.edu/fhirgenomics

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Slide from Tutorial on “Precision Medicine via FHIR” (2017 HL7 WG meeting)

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Other Relevant Organizations
http://genomicsandhealth.org
Actionable Genome Consortium
http://www.iom.edu/~/media/Files/Activity%20Files/Disease/NCPF/2014-NOV-10/Solit.pdf
DIGITizE: Displaying and Integrating Genetic Information Through the EHR
http://www.nationalacademies.org/hmd/Activities/Research/GenomicBasedResearch/Innovation-
Collaboratives/EHR.aspx

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GA4GH
• VMC (Variant Modelling Consortium)
– https://github.com/ga4gh/vmc
– Collaborators
• HL7, Ensembl
• NIH (ClinGen, ClinVar)
• HPO (Human Phenotype Ontology)
• …

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Related Standards
• CDISC SDTM PGx
– Effective since December
2016 in US & Japan
– https://www.cdisc.org/sta
ndards/foundational/pharm
acogenomicsgenetics-
pgx/sdtmig-pgx-v10

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Related Standards
ISO/NP 21393 OWL
- Omics Markup Language
ISO/NP 25270 WGSML
- Whole Genome Sequence Markup Language
Early stages

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ISO 20428

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ISO/TS 20428
• Metadata for describing structured clinical genomic sequence
information in electronic health records
– defines the composition of structured clinical sequencing report (see Clause 5),
– defines the required data fields and their metadata for structured clinical sequencing
report (see Clause 6),
– defines the optional data (see Clause 7),
– covers the DNA-level variation form human samples using whole genome sequencing,
whole exome sequencing, and targeted sequencing (disease-targeted gene panels) by
next generation sequencing technologies. Though whole transcriptome sequencing and
other technologies are important to provide better of patients care and enable precision
medicine, this document only deals with DNA-level changes,
– covers mainly clinical applications and clinical research such as clinical trials and
translational research which uses clinical data. The basic research and other scientific
areas are outside the scope of this document.
– does not cover the other biological species, i.e., genomes of viruses and microbes,
– does not cover the Sanger sequencing methods.

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Composition of Report
Summary
- Subset of required fields
Ex)
- Patient information
- Type of samples
- Variants information
- Recommended treatments
- Overall interpretation
- Identified, Not identified,
inconclusive, carrier
Detailed pages
-Required fields
-Optional fields
Detailed pages
-Required fields
-Optional fields
Detailed pages
-Required fields
-Optional fields
Detailed contents
-Required fields
-Optional fields

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Overall Interpretation
Interpretation Remarks
Identified detection of a variant that explains a patient’s condition
Not identified no variants identified of likely relevance to the diagnostic indication
Inconclusive a clear explanation of the patient’s condition was not found
Carrier identification of variants of recessive carrier screening tests

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Required
fields

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Optional
fields

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Example

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Example

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HELP!

44. sooyong.shin@khu.ac.kr
@likesky3