Genetic testing : policy Issues for the new millennium.

Description

Genetic tests are being developed at an impressive rate and a significant number has already reached the market. Substantial involvement of the private sector has led to unprecedented growth in commercial genetic testing services and in trade of such services. This trend is expected to increase as knowledge gained from the mapping of the human genome and of single nucleotide polymorphisms (SNPs) is applied to the identification of disease-causing genes and of inherited differences in drug response. The potential socio-economic and ethical impacts are staggering. This report provides a state-of-the art review of advances in genetic testing and of main international policy concerns drawing from the OECD workshop on "Genetic Testing: Policy Issues for the New Millennium", held in Vienna on 23-25 February 2000.  Read more... Foreword -- Summary -- Introduction -- Study population -- Growth, configuration and organisation of genetic testing services -- Close collaboration between clinical and laboratory services -- Technology-Referral systems and gatekeeping arrangements -- Funding and uptake of genetic tests -- Geographical disparity in the range of genetic tests available -- The growth of genetic testing networks-Handling of samples and data -- Risk management-Determinants of laboratory personnel competence -- References -- Chapter 1. Quality Assurance in Molecular Genetic Testing: Results of a Survey of 18 Countries -- Introduction -- Methods -- Steering committee -- Study population -- Survey development -- Validation of the survey instrument -- Contact of potential laboratory directors -- Prevention of duplicate entries -- Calculation of result reporting and QA best practice indices -- Statistical analysis-Results--Study population -- Laboratory setting--Personnel qualifications -- Specimens--Types of testing being offered -- Number of specimens accessioned -- Methods used--Reporting practices -- Informed consent and confidentiality -- Licensing and proficiency testing participation -- Patented tests -- Quality assurance practices of the laboratories -- Chapter 2. Transborder Flow and Rare Diseases -- -Introduction -- Background information -- Summary of survey results -- Dimension of transborder flow -- Countries receiving samples -- Current practice -- Bivariate analysis of the transborder flow -- Multivariate analysis of the transborder flow -- Discussion -- Dimension of transborder flow -- Regulatory environment -- Current practice -- Conclusions -- Improving availability of rare-disease testing -- Promoting quality testing -- Improving access to rare-disease testing -- Chapter 3. Report Writing -- -Introduction -- The reporting quality score -- Survey results: analysis and discussion. -- Respondents not issuing reports -- Range of scores -- Factors influencing reporting quality score -- Conclusions -- References -- Chapter 4. Consent, Storage and Confidentiality -- Introduction: critical issues -- Storage -- Confidentiality -- Informed consent -- Survey results, analysis and discussion -- Laboratory setting -- Confidentiality -- Conclusions -- References -- Chapter 5. Licensing, Accreditation, Certification and Proficiency Testing/External Quality Assessment -- Introduction -- The licensing and accreditation section of the survey -- Definitions-Survey results, analysis and discussion -- Licensing. -- Accreditation -- Proficiency testing/external quality assessment programmes -- Barriers to participation in PT schemes -- Barriers to certification/accreditation. -- Conclusions and recommendations for international action -- Chapter 6. Education and Training -- Introduction -Summary of survey results -- Education and training of director -- Academic degree -- Certification, training and experience -- Supervision -Education and training of laboratory technical personnel -- Employment -- Education--Training.-Genetic counselling: affiliation, education and training -- Affiliation -- Provision of counselling -- Cross-analyses of survey results -- Comparison of recommendations and requirements for competence of laboratory staff. -- Analysis -- Multivariate analysis -- Conclusions -- Chapter 7. Conclusions and Recommendations -- Key conclusions from the study -- Annex A. Licensing and Accreditation in 18 OECD countries -- Annex B. National Guidelines on Informed Consent, Confidentiality and Storage of Samples -- Annex C. Members of the Expert Steering Group and National Contact Points.