OECD Guidelines for Quality Assurance in Molecular Genetic Testing

What is theOrganization for Economic Cooperation and Development?(OECD)• Governmental Organization - established in 1961• Origin traced to post-WWII Marshal Plan• 30 member countries + cooperative arrangements with 70+ others• Focus is to promote economic growth and financial stability• Biotechnology and health care viewed as key sectors• Molecular genetic testing viewed as important and evolving• Lack of an international frameworkhttp://www.oecd.org

The Journey to Guideline DevelopmentFocus: Molecular genetic testing for medical (disease-related) conditionsOECD GUIDELINEFOR QUALITY ASSURANCEiN MOLECULAR GENETICTESTING200020052007

Quality Assurance and Proficiency Testingfor Molecular Genetic Testing(Evidence for Policy Development)Total:US:827 Responses226 Responses2005http://www.oecd.org/dataoecd/25/12/34779945.pdf

Laboratory Practice Settings(from the survey)12%20%8%4%4%16%20%22%38%56%IndependentPrivate HospitalPublic Hospialublic Non-HospitalsResearch60%50%40%30%20%10%0%AllLaboratoriesUSLaboratoriesSetting% Labsin one or more settings

SpecimensProcessedSpecimens Processed for Testing(from the survey)1,600,0001,400,0001,200,0001,000,000800,000600,000400,000200,000874,6081,112,9881,401,536167,649205,860279,744AllLaboratoriesUSLaboratories02000 2001 2002Year

Cross-Border Flow of Samples(from the survey)In 2002Number of samples sent out of countryTotal: 18,000US: 5030Percentage of laboratories sending samplesout of countryAll Countries: 67% (554 out of 827)US: 28% (63 out of 226)

Quality Assurance IndexInformation elementStandard operatingProcedures developedStandard operatingprocedures reviewed bydirectorLaboratory report isissuedReport is reviewed bydirectorTurnaround time data iscollected% Total complying(n=827)9482958481% US complying(n=226)8898969483

General elementsReporting Quality Index% Total complying % US complyingBasic ElementsTwo unique identifiers 100100Result 95 92Added SpecificityDate of Birth 88 100Reason for testing 89 94Statement of limitations 78 79Director’s s signature 84 94Implications for other familymembersAlso Useful61 64Date of report 99 100Sample collection date 86 98Suggestion for further testing 82 79

Variables associated with higher quality indices• Standard Operating Procedures exist• Standard operating procedures are reviewed by director• Laboratory test result report is issued (written or electronic)• Laboratory test result report is reviewed by director• Offering of prenatal / pre-implantation testing• Affiliation with a genetics unit• Licensing and accreditation• Participation in proficiency testing• Not primarily in a research setting• Maintaining data on turnaround time• Lab director has an MD or PhD• Lab director is certified• Lab director has formal training• Lab technicians have a university degree• lab technicians have relevant training

Official Recognition of LaboratoriesAll countriesUSLicensed / Certified 49% 98%Accredited 54% 84%Barriers to Accreditation(one or more reasons given)All countriesn=362USn=23In process 8% 14%Cost too high 64% 54%Not required 46% 45%Other 28% 14%

Guideline for Quality Assurancein Molecular Genetic Testing"Prior to form acceptance by theUS and other countries of the OECD.there was a significant commentperiod and formal discussion"http://www.oecd.org/dataoecd/43/6/38839788.pdf

OECD Guidelines for Quality Assurancein Molecular Genetic Testing• Promote minimum standards• Facilitate mutual recognition of quality assurance frameworks• Strengthen international co-operation to facilitate cross-borderflow of patient specimens for medically necessary testing• Increase public confidence in the governance of moleculargenetic testing

OECD Guidelines for Quality Assurancein Molecular Genetic TestingComponents1. General principles and best practices2. Quality assurance systems3. Proficiency testing4. Quality of result reporting5. Education and training standards6. AnnotationsOrganization:Principles (1,2,3...): Primarily directed to governmentsBest Practices (i, ii, iii): Primarily directed to laboratories and other entities

General principles and best practicesA.2 - Molecular genetic testing should be delivered within the framework ofhealthcare.A.i - Regulatory/professional bodies should, as appropriate, review whetherinstruments available to manage a quality assurance frameworkrequire adaptation for molecular genetic testingA.3 - All molecular genetic testing services should be provided andpractices under a quality assurance frameworkA.iii - Molecular genetic test results should be reported back to thereferring health care professional to enable counseling andhealthcare decision making

Quality Assurance Systemsin Molecular Genetic TestingB.1 - Governments and regulatory bodies should recognize thataccreditation of medical laboratories is an effective procedurefor assuring quality.B.i. - All laboratories reporting molecular genetic testing results forclinical care purposes should be accredited or hold anequivalent recognition. (additional clarification for roleof research laboratories)B.9 - Governments should encourage international collaboration forthe development and validation of molecular genetic tests.B.viii - Laboratories should cooperative (internationally) to collect,develop, verify and make available reference materials.

Proficiency Testing:Monitoring the Quality of Laboratory PerformanceC.1 - The performance of laboratories offering clinical molecular genetictests should be measured.C.iii - Proficiency testing schemes should be structured to assess allphases of the laboratory process, including result reporting.C.4 - Accreditation or equivalent recognition should be the basis for theinternational recognition of proficiency testing scheme andproviders.C.v - Laboratories should participate in a proficiency testing scheme forevery test offered, when such schemes exist. When not available,they should participate in alternate methods.

Quality of Result ReportingD.1 - All laboratories should issue molecular genetic testing resultsin the form of a written and/or electronic report to thereferring health professionalD.i - Reports should communicate information effectively taking intoaccount that the recipient may not be a specialist.D.2 - Where reports are issued directly to patients, it should beencouraged that laboratories recommend consultationwith an appropriate health care professional.D.4 - The interpretation of the result should be appropriate to theindividual and clinical situation and based on objectiveevidence.

Education and TrainingStandards for Laboratory PersonnelE.2 - Standards for laboratory accreditation or other equivalentrecognition should require that all molecular geneticspersonnel have a combination of education, training, skills,and experience that ensures their competence.E.4 - Development of educational and training programmes should beencouraged where they do not exist.E.vi. Comparison of education and training systems between jurisdictionsshould be facilitated as a means to establish equivalence.E.5 - Relevant government or professional authorities shouldrecognize medical genetics as a discipline comprising both aclinical and a laboratory specialty.

Next Step: ImplementationOECD Perspective Each country charged to implement Follow up meeting in two yearsUS Perspective Needs: Access to quality testing, validation,and reference materials.Eurogentests Road show: OECD GuidelinesInternational Organization for Standardization (ISO) Workgroup 1 (Quality and Competency of MedicalLaboratories), Technical Committee 212 exploringrelevance

Promoting Availability, Access, and QualityPotential Benefits to the US?1. Encouraging development of a framework for mutual recognition Quality assurance and professional competence2. Promote options for proficiency testing or alternate assessment3. Promote collaboration relevant to availability and accessto reference materials4. Enhance opportunities for collaboration for the developmentand validation of tests, particularly those for rare diseases5. Promote importance and role of research laboratories inworking with the clinical sector

Questions?Thank You