The use of whole genome sequencing in clinical practice : challenges and organisational considerations for Belgium [printed text] / Germaine Hanquet, Author ; Imgard Vinck  , Author ; Nancy Thiry, Author . - Brussels (Doorbuilding (10th), Bld Jardin Botanique, 55, 1000, Belgium) : KCE = Federaal Kenniscentrum voor de Gezondheidszorg = Centre Fédéral d'Expertise des Soins de Santé = Belgian Health Care Knowledge Centre, 2018 . - 81 p. : ill., ; A4. - ( KCE Reports. Health Services Research (HSR); 300) . ISSN : D/2018/10.273/25 : € 0,00 Study 2016-05 Languages : English ( eng) | Descriptors: |
Indexation
2016-05 ; Belgium ; Genetic Counseling ; Genetic Services ; Genetic Techniques ; Genetic testing ; Genomics ; Health Care Economics and Organizations ; R300
Classification
QU 460 - Genomics
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| Contents note: |
SCIENTIFIC REPORT 9 -- 1 BACKGROUND AND SCOPE 9 -- 1.1 GENETIC DISEASES 9 -- 1.2 PROGRESSES IN DNA SEQUENCING 9 -- 1.3 RESEARCH QUESTIONS AND METHODOLOGY 10 -- 2 BACKGROUND ON WHOLE GENOME SEQUENCING 12 -- 2.1 ADVANTAGES OF WHOLE GENOME SEQUENCING 12 -- 2.2 DISADVANTAGES OF WHOLE GENOME SEQUENCING 12 -- 2.3 POTENTIAL USE OF WHOLE GENOME SEQUENCING IN CLINICAL PRACTICE 13 -- 2.4 ECONOMIC ASPECTS OF WHOLE GENOME SEQUENCING 14 -- 2.4.1 Costs of Whole Genome Sequencing 14 -- 2.4.2 Pharmaco-economic evaluations of WGS 17 -- 3 PLACE OF WGS IN CLINICAL PRACTICE 18 -- 3.1 IN COUNTRIES IMPLEMENTING WGS (OR WES) IN CLINICAL CARE 18 -- 3.1.1 The Dutch experience 18 -- 3.1.2 The English experience 19 -- 3.2 POTENTIAL USE OF WGS IN BELGIUM 20 -- 3.2.1 Possible indications for WGS in Belgium 20 -- 4 ORGANISATION OF GENETIC TESTING IN BELGIUM 21 -- 4.1 CENTRES FOR HUMAN GENETICS 21 -- 4.2 GENETIC TESTING AND ANALYSIS 22 -- 4.3 GENETIC COUNSELLING 23 -- 4.4 FINANCING AND REIMBURSEMENT 23 -- 4.4.1 Article 33 of the nomenclature and convention article 22 23 -- 4.4.2 Article 33bis and article 33ter of the nomenclature 25 -- 4.4.3 Regions and Communities 25 -- 4.5 GENETIC PROFESSIONS 26 -- 4.5.1 Medical or Clinical Geneticist 26 -- 4.5.2 Clinical Laboratory Geneticist 26 -- 4.5.3 Medical Laboratory Technician 27 -- 4.5.4 Bio-informatician in genetics 27 -- 4.5.5 Genetic counsellors 27 -- 4.6 PROFESSIONAL ORGANISATIONS AND INTERACTIONS WITH OTHER GROUPS 28 -- 5 MAIN CHALLENGES AND LESSONS LEARNED IN WGS IMPLEMENTION 29 -- 5.1 INFRASTRUCTURE MODELS FOR SEQUENCING 29 -- 5.1.1 Centralised or decentralised sequencing? 29 -- 5.1.2 Sequencing outsourced? 30 -- 5.1.3 Should WGS be restricted to genetic centres? 30 -- 5.2 DECISIONS ON MEDICAL INDICATIONS FOR WGS 30 -- 5.3 DATA ANALYSIS AND INTERPRETATION OF WGS RESULTS 31 -- 5.3.1 Genetic bioinformatics 31 -- 5.3.2 Medical interpretation and reporting 32 -- 5.3.3 Variant of uncertain significance 32 -- 5.3.4 Data storage, protection and sharing 33 -- 5.4 MANAGEMENT OF INCIDENTAL AND SECONDARY FINDINGS 34 -- 5.5 GENETIC COUNSELLING 35 -- 5.6 WGS QUALITY 35 -- 5.7 HUMAN RESOURCES 36 -- 5.7.1 Clinical geneticist 36 -- 5.7.2 Clinical laboratory geneticist (CLG) 36 -- 5.7.3 Bio-informaticians in genetics 37 -- 5.7.4 Genetic counsellors 37 -- 5.8 COST AND FINANCING 37 -- 5.9 THE ORGANISATION OF MEDICAL GENETICS IN BELGIUM 39 -- 6 ORGANISATIONAL PROPOSALS TO ADRESS THESE CHALLENGES 40 -- 6.1 ORGANISATION OF WGS IN THE SHORT TERM 40 -- 6.2 INFRASTRUCTURE FOR WGS 40 -- 6.2.1 Options for sequencing infrastructure 40 -- 6.2.2 Should WGS be restricted to CHG? 41 -- 6.2.3 Centralisation and harmonisation 42 -- 6.3 BIO-INFORMATICS AND MEDICAL INTERPRETATION 44 -- 6.4 DATA STORAGE 44 -- 6.5 A COMMON DATABASE OF VARIANTS 44 -- 6.6 WGS INDICATIONS AND PRESCRIPTION 45 -- 6.7 INCIDENTAL FINDINGS AND GENETIC COUNSELLING 45 -- 6.8 FINANCING OPTIONS 45 -- 6.9 PLAN FOR HUMAN RESOURCES 48 -- 6.10 ORGANISATION OF GENETICS IN BELGIUM 49 |
| Link for e-copy: |
https://kce.fgov.be/sites/default/files/atoms/files/KCE_300_Whole_genome_Sequenc [...] |
| Format of e-copy: |
PDF (990 Kb) |
| Record link: |
http://kce.docressources.info/index.php?lvl=notice_display&id=4369 |
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