Elettra Ronchi “Background and Concepts of the OECD guidelines on Quality Assurance of Genetic Testing: What is required to the international community.”

OECD GUIDELINES ON QUALITY ASSURANCE INMOLECULAR GENETIC TESTING:

Background and Overview

Elettra [email protected]

www.oecd.org

March 16, 2008

Outline of Talk

About OECD Background Objectives , Process and Structure Outcomes of Public Consultation The Implementation Process

What is the OECD?

An Organisation of 30 member countriescommitted to democracy and the marketeconomy.

A provider of comparative data, analysisand forecasts.

so that governments can:compare policy experiencesseek answers to common problemsidentify good practiceco-ordinate and agree policiesadopt „soft law“

OECD Member Countries

An organisation with global reach

Working with countries around the world

Economies with which the OECD has workingrelationships

GUIDELINES FOR QUALITY ASSURANCE INMOLECULAR GENETIC TESTING

Background

2000-OECD Vienna WorkshopPolicy Challenges from the New Genetics

Public – and more particularly,patient trust- in the quality ofpractices for the collection,handling, storage of geneticsamples and related informationremains an essential element of theenabling environment forgenetics/genomics and forinternational cooperation in thisfield.

QA Project Milestones

Analysis

Discussion

DraftGuidelines

Decisions

Data Collection Survey -2002-2003

Peer reviews, Publicconsultation, multilateralnegotiation

Guidelines 2007

OECD QA SURVEY: INFORMATIONCOLLECTED

Laboratory Setting andPersonnel Qualifications

Information About Specimens

-Referral of Specimens AcrossNational Boundaries

Informed consent andconfidentiality policies

Types of Analyses Methods Used Standard Operating Procedures Reporting Practices Licensing, Accreditation and

Proficiency Testing Patents

Australia (Dr.Bob Williamson)VICE-CHAIR

Austria (Dr. Gerald Hoefler) Belgium (Dr. Elisabeth Dequecker) Canada (Dr. Nancy Carson/Dr.

Martin Somerville) Czech Republic (Dr. Radim Bridcka) Finland (Dr. Mauri Keinanen) France (Dr. Segolene Ayme) Germany (Dr. Clemens Muller-

Reible) Ireland (Dr. David Barton) Italy (Dr. Domenica Taruscio) Japan (Dr. Hiroshi Yoshikura)

Norway (Dr. Vibeke Dalen) Portugal (Dr. Jorge

Sequeiros) Spain (Dr. Armando Albert

Martinez) Sweden (Dr. Ulf

Kristoffersson) Switzerland (Dr. Isabella

Beretta/Dr. HansjakobMueller)

Turkey (Dr. Meral Ozguk) United Kingdom (Dr. Rob

Elles) CHAIR United States (Dr. Margaret

McGovern, Dr. Ira Lubin, Dr.Joe Boone)

An International Effort

OECD QA Survey Main Conclusions

International exchange is a widespread feature of genetictesting service provision, particularly for rare diseasetesting.

MGT is provided under widely varying conditions andregulatory frameworks across the 18 participatingcountries.

The issue of greatest concern is the lack of internationallyagreed good practices for quality assurance

Survey main References:

Quality Assurance and Proficiency Testingfor Molecular Genetic Testing : Survey of 18OECD Member countries. Paris: OECD,2005.

Report of an International Survey ofMolecular Genetic Testing Laboratories-McGovern M, et al. Community Genetics2007;10(3):123-31.

Genetic Testing: A clinical practice surveyand recommendations for improving qualitystandards. Paris: OECD, 2007.

GUIDELINES FOR QUALITY ASSURANCEIN MOLECULAR GENETIC TESTING

-OBJECTIVES-

The Objectives

The guidelines are intended to : Assist both OECD and non-OECD governments in

the development and introduction of appropriatequality assurance procedures.

Ensure high and reproducible internationalstandards for quality assurance of moleculargenetic testing.

Facilitate mutual recognition of national orregional quality assurance frameworks.

Strengthen international co-operation andfacilitate the cross border flow of samples forclinical and research purposes..

Increase public confidence in the governance ofMGT.

GUIDELINES FOR QUALITY ASSURANCE INMOLECULAR GENETIC TESTING

-PROCESS-

An International Collaborative Effort

A LENGHTY PROCESS OF NEGOTIATION

2005 Steering Meetings: April 18-19, 2005 in Parisand October 19-20, 2005 in Rome

Drafting meetings: 12 July, 2005 (UK) ;August 29,2005 (Paris)

International expert meeting on Result ReportingSeptember 19, 2005 (Washington).

International expert meeting on first completedraft of guidelines in Berlin, January 30-31, 2006.

Declassification by WPB/CSTP : June 2006 Public consultation : July-September 2006 June 27-28, 2006 UK workshop on clinical validity,

utility. September 2006-January 2007 Final Negotiation

Sessions February-March 2007- Submission to WPB/CSTP May 10 2007- Submission to OECD Council

…Including Public Consultation

Overview of Public Consultation

comments were received from:

Contributions included inputs from: Government agencies Patient groups Private sector Accreditation bodies Professional associations Academic institutions Regional networks Independent national and provincial organisations Hospitals and clinical laboratories Members of International Standards organisation European Commission Members of the WHO advisory group on human genetics

Overview of Public Consultation

The comments received were supportiveof the Guidelines and commended theinitiative.

The Guidelines, while not legally binding,were considered capable of promoting auniform and accepted set of QAstandards across both OECD and non-OECD member countries.

The Guidelines were generallyconsidered different from existingdocuments as they offered guidance toboth those involved in the regulation ofgenetic services and providers ofmolecular genetic testing services.

might be considered as a sector specificdocument in combination with existingstandards such as ISO 15189.

In general respondents appreciatedthat the Guidelines:

covered the complete process of genetictesting

provided an appropriate focus on the needfor education and training

took into account the need for genetictesting to be delivered under the governanceframework of health care systems

attached proportionality to the level ofcounseling for different diseases

were consistent with existing nationalpractice and planned or ongoing initiatives.

GUIDELINES FOR QUALITY ASSURANCEIN MOLECULAR GENETIC TESTING

-SCOPE AND STRUCTURE-

GUIDELINES- TARGET AUDIENCE

1-Policymakers in OECD member countriesand those non-member countries that mightseek to adopt the principles and bestpractices laid out in the guidelines.

2-Those responsible for carrying outmolecular genetic testing and transmittingdata - particularly across borders.

GUIDELINES- NATURE

1-The Guidelines set out minimum commonrequirements and recommended bestpractice approaches with respect to qualityassurance in molecular genetic laboratories

2- The Guidelines are intended to beevolutionary in nature and forward looking

3-The diversity of systems between nationaljurisdictions is recognised.

The OECD Guidelines are not intended toreplace any applicable domestic, state,or local laws which provide greaterprotections.

GUIDELINES- Principles and Best Practices

1-Principles are of a general nature andreflect issues of relevance to policymakers and regulators.

2-Best Practices aim to provideoperational guidance in implementingthe Principles. Best Practices willinform professional bodies andproviders of MGT.

-Principles , Best practices andAnnotations are organised according tothe following areas :

A. General principles and best practices formolecular genetic testing

B. Quality Assurance Systems in Molecular GeneticTesting

C. Proficiency Testing: Monitoring the quality oflaboratory performance

D. Quality of Result Reporting

E. Education and Training Standards forlaboratory personnel

THE IMPLEMENTATION PROCESS :A National , Regional and International

Effort

The Guidelines are available in English, French,Spanish and Japanese.Chinese and Italian versions are forthcoming.

Website: http://www.oecd.org/sti/biotechnology

..AT NATIONAL LEVEL

Council of Europe

..AT REGIONAL LEVEL

2007-2008Contributing to Discussions on Policies and Standards

…AT INTERNATIONAL LEVEL

Thank you!

Elettra [email protected]