Genetic testing : policy Issues for the new millennium.

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.