SETTING NORMATIVE FUNCTION: IDENTIFICATION OF AREAS      WHERE STANDARDS AND GUIDELINES ARE REQUIREDStandards:systems, pro...
DATABASE QUALITY AND DATA QUALITY/RELIABILITYHow to ensure data accuracy?How to avoid data redundancy?How to ensure nomenc...
PATHOGENICITY ASSESSMENT (PA) and REPORTINGFamilial segregation of variants and associated phenotype?Annotation (functiona...
ETHICAL AND LEGAL ISSUESCountry-specific framework approval?Signed Consent Forms (autonomy protection) (PROSPECTIVE)?Capac...
CORE DESCRIPTION (HVP recommendations already published)Database name                                               Patien...
CORE DESCRIPTION :additional HVP recommendations to be formulated ?Scope: purposes of the DB and data types capturedQMS (q...
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Setting Normative Function: Identification of areas where Standards and Guidelines are required

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The "Setting Normative Function: Identification of areas where Standards and Guidelines are required" session at the 4th Biennial Meeting of the Human Variome Project Consortium fell within the context of a larger discussion of gene/disease specific databases. The session aimed to stimulate discussion amongst the Consortium about what specific standards and guidelines are required for gene/disease specific databases.

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Setting Normative Function: Identification of areas where Standards and Guidelines are required

  1. 1. SETTING NORMATIVE FUNCTION: IDENTIFICATION OF AREAS WHERE STANDARDS AND GUIDELINES ARE REQUIREDStandards:systems, procedures, technologies that HVP determined shall be usedGuidelines:systems, procedures, technologies that HVP determined to be beneficial to adopt Raymond Arleen Finlay Mauno Mireille DALGLEISH AUERBACH MACRAY VIHINEN CLAUSTRES
  2. 2. DATABASE QUALITY AND DATA QUALITY/RELIABILITYHow to ensure data accuracy?How to avoid data redundancy?How to ensure nomenclature checking?How to ensure quality assurance (to organize EQC?)What is the role of the HVP in database quality?What is the role of biomedical journals in ensuring variant reporting standards?SYSTEMATICS of DATABASESLogical database checks (e.g. dates)Ontologies, nomenclatures, vocabularies...The role of the CURATOR: towards a new concept of a profession with a career structure (ex. a core health service?)
  3. 3. PATHOGENICITY ASSESSMENT (PA) and REPORTINGFamilial segregation of variants and associated phenotype?Annotation (functional significance: in vitro, in vivo and in silico analyses?)How much phenotype must be attached to data? define a clinical form?How to accommodate incomplete or variable penetrance in PA?How to assess polyvariant mutants (modifiers of mutations)?How to establish the frequency of variants in patients and controls? (ex. 2 patients in a family: how many times the allele is reported?)Integration of sometimes discrepant information?Updating pathogenicity (may change with time)/state of knowledge of VUS
  4. 4. ETHICAL AND LEGAL ISSUESCountry-specific framework approval?Signed Consent Forms (autonomy protection) (PROSPECTIVE)?Capacity of an individual to consent for submission of the family pedigree data?Anonymisation (privacy protection) vs. medical and scientific interest?ETHNIC QUALIFICATIONSShould they be population definitions or geographical locations?Founder effects?INTELLECTUAL PROPERTY RIGHTSHow to protect curators and submitters against misuse?Need to define clarity of data use policy with respect to diagnostic vs. research?LINKS WITH INDUSTRY AND PRIVATE LABSConditions of access and commercialisation
  5. 5. CORE DESCRIPTION (HVP recommendations already published)Database name Patient/family ID (anonymous/encrypted)URL resource SexContact information (e-mail) Ethnicity/geographic locationDate resource established Gene/variant/proteinConditions of use (free or type of license) Clinical PhenotypeCuration policy and curator’s identity Case-control (number of affected/unaffectedStandards used (gene/symbol/chr. location/ carriers and controls link to RefSeq, ontologies, vocabularies) Frequency of the variant in the population(s)Data formats Co-segregation with diseaseData accessibility/output options Allelic status (homozygous, heterozygous, hemizygous)Data release policy and frequency Co-occurring variantsData submission policy Detection technique and year of testingDocumentation available Testing coverage (which genes/exons were tested)Relevant publications NomenclatureTools availableDisclaimer
  6. 6. CORE DESCRIPTION :additional HVP recommendations to be formulated ?Scope: purposes of the DB and data types capturedQMS (quality management system?)Country-specific framework approval obtainedNature and source of financing or fundingGOVERNANCE and MANAGEMENTOversight roles and responsibilitiesCharter to regulate relationship with third parties?Medical/legal responsibilities?Dispute resolution?Sustainability and fundingSTANDARDS COMPLIANCE and DATA EXCHANGEInteraction between Country Nodes and gene/disease-specific databases (LSDBs)

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