• diagnostic research

In his paper about possible ways to improve research on diagnostic testing,¹ Dr Feinstein observed that “the methodological problems are particularly noteworthy in the new era of molecular biology and genetic testing.” Methodological issues surrounding research on genetic testing have been addressed in several recent articles and reports from expert advisory panels.^2–5 Although some of these reports have focused on technological and quality assurance challenges in large scale genetic testing and screening, many of their recommendations and conclusions are applicable to genetic testing conducted in a clinical setting or as part of research.

The National Institutes of Health-Department of Energy Working Group on Ethical, Legal, and Social Implications of Human Genome Research, Task Force on Genetic Testing, noted that the clinical use of a genetic test must be based on evidence that the gene being examined is associated with the disease in question, that the test results will be useful to the people being tested, and that the test itself has analytical and clinical validity.⁴ Whereas clinical validity refers to the accuracy with which a test predicts the presence or absence of a clinical condition or predisposition, analytical validity is an indicator of how well a test performs in the laboratory.⁵ …