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ISO/TS 20428
구조화된 임상유전체분석보고서
Soo-Yong Shin, PhD
Department of Computer Engineering
Kyung Hee University
2017. 06. 23
@2017...
유전체정보 표준화 노력들..
3
유전자 패널검사 보험 수가 인정
http://www.epeople.go.kr/jsp/user/po/filterOff/puhe/UPoPuheView.jsp?app_no_c=1AC-1701-018512
4
Samples
5
6
ISO/NP 20391-1Biotechnology -- Cell Counting 2015-03-13
ISO/NP 20391-2Biotechnology -- Cell Counting 2015-06-15
ISO/NP 2...
7
Close meeting: contact Kim, Sookrae & KATS (cssd@kats.go.kr)
8
Samples
9
http://www.mfds.go.kr/index.do?mid=1161&seq=11001&cmd=v
10
Samples
11
Genome in a Bottle Consortium
12
GIAB Reference Material
https://www-s.nist.gov/srmors/view_detail.cfm?srm=8398
13
PrecisionFDA
https://precision.fda.gov/
14
PrecisionFDA
15
Samples
16
17
Samples
18
HL7 Clinical Genomics
http://www.hl7.org/Special/committees/clingenomics/
19
Samples
HL7 Clinical Genomics WG
IT가 관여하는 모든 영역
표준화 노력 중
- CLIA workflow support
- Lab result interface
- …
- Structure...
20
Product of HL7 CG WG
21
HL7 DAM: Clinical Sequencing
22
HL7 FHIR Profile for Genetics
http://www.hl7.org/FHIR/observation-genetics-cg-prf-1a.html
23
HL7 FHIR Genomics
Implementation Guideline
http://hl7.org/fhir/2017Jan/genomics.html
Other helpful site - http://projec...
24
Slide from Tutorial on “Precision Medicine via FHIR” (2017 HL7 WG meeting)
25
Other Relevant Organizations
http://genomicsandhealth.org
Actionable Genome Consortium
http://www.iom.edu/~/media/Files...
26
GA4GH
• VMC (Variant Modelling Consortium)
– https://github.com/ga4gh/vmc
– Collaborators
• HL7, Ensembl
• NIH (ClinGen...
27
Related Standards
• CDISC SDTM PGx
– Effective since December
2016 in US & Japan
– https://www.cdisc.org/sta
ndards/fou...
28
Related Standards
ISO/NP 21393 OWL
- Omics Markup Language
ISO/NP 25270 WGSML
- Whole Genome Sequence Markup Language
E...
29
ISO 20428
30
31
ISO/TS 20428
• Metadata for describing structured clinical genomic sequence
information in electronic health records
– ...
32
Composition of Report
Summary
- Subset of required fields
Ex)
- Patient information
- Type of samples
- Variants inform...
33
Overall Interpretation
Interpretation Remarks
Identified detection of a variant that explains a patient’s condition
Not...
34
Required
fields
35
Optional
fields
36
Example
37
38
39
Example
40
41
42
43
HELP!
sooyong.shin@khu.ac.kr
@likesky3
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ISO 20428 Intro

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유전체 정보 표준화와 관련된 소개 슬라이들

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ISO 20428 Intro

  1. 1. ISO/TS 20428 구조화된 임상유전체분석보고서 Soo-Yong Shin, PhD Department of Computer Engineering Kyung Hee University 2017. 06. 23 @2017년 춘계 의료정보학회
  2. 2. 유전체정보 표준화 노력들..
  3. 3. 3 유전자 패널검사 보험 수가 인정 http://www.epeople.go.kr/jsp/user/po/filterOff/puhe/UPoPuheView.jsp?app_no_c=1AC-1701-018512
  4. 4. 4 Samples
  5. 5. 5
  6. 6. 6 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..
  7. 7. 7 Close meeting: contact Kim, Sookrae & KATS (cssd@kats.go.kr)
  8. 8. 8 Samples
  9. 9. 9 http://www.mfds.go.kr/index.do?mid=1161&seq=11001&cmd=v
  10. 10. 10 Samples
  11. 11. 11 Genome in a Bottle Consortium
  12. 12. 12 GIAB Reference Material https://www-s.nist.gov/srmors/view_detail.cfm?srm=8398
  13. 13. 13 PrecisionFDA https://precision.fda.gov/
  14. 14. 14 PrecisionFDA
  15. 15. 15 Samples
  16. 16. 16
  17. 17. 17 Samples
  18. 18. 18 HL7 Clinical Genomics http://www.hl7.org/Special/committees/clingenomics/
  19. 19. 19 Samples HL7 Clinical Genomics WG IT가 관여하는 모든 영역 표준화 노력 중 - CLIA workflow support - Lab result interface - … - Structured document - Pedigree
  20. 20. 20 Product of HL7 CG WG
  21. 21. 21 HL7 DAM: Clinical Sequencing
  22. 22. 22 HL7 FHIR Profile for Genetics http://www.hl7.org/FHIR/observation-genetics-cg-prf-1a.html
  23. 23. 23 HL7 FHIR Genomics Implementation Guideline http://hl7.org/fhir/2017Jan/genomics.html Other helpful site - http://projects.iq.harvard.edu/fhirgenomics
  24. 24. 24 Slide from Tutorial on “Precision Medicine via FHIR” (2017 HL7 WG meeting)
  25. 25. 25 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
  26. 26. 26 GA4GH • VMC (Variant Modelling Consortium) – https://github.com/ga4gh/vmc – Collaborators • HL7, Ensembl • NIH (ClinGen, ClinVar) • HPO (Human Phenotype Ontology) • …
  27. 27. 27 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
  28. 28. 28 Related Standards ISO/NP 21393 OWL - Omics Markup Language ISO/NP 25270 WGSML - Whole Genome Sequence Markup Language Early stages
  29. 29. 29 ISO 20428
  30. 30. 30
  31. 31. 31 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.
  32. 32. 32 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
  33. 33. 33 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
  34. 34. 34 Required fields
  35. 35. 35 Optional fields
  36. 36. 36 Example
  37. 37. 37
  38. 38. 38
  39. 39. 39 Example
  40. 40. 40
  41. 41. 41
  42. 42. 42
  43. 43. 43 HELP!
  44. 44. sooyong.shin@khu.ac.kr @likesky3

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