The evaluation of genetic tests.
Scientific advances in genetics and molecular biology have been very successful in advancing our knowledge of biological mechanisms in health and disease, and in catalysing a variety of technological innovations. The number of genetic tests available has consequently increased exponentially over the last few years. Their development has not been accompanied by processes and systems to evaluate these tests in a proper and formal manner to establish their clinical validity and utility. A framework for the evaluation of genetic tests has been developed. This paper reviews the current practice of genetic test evaluation, highlighting the limitations and future challenges in this area of public health.
Zimmern
Ron L
RL
Public Health Genetics Unit, Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, UK.
Kroese
Mark
M
D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000941:ethics / Q000331:legislation & jurisprudence / Q000592:standards*; D005823:Genetics / Q000639:trends; D006801:Humans; D040541:Marketing; D008967:Molecular Biology / Q000639:trends; D011237:Predictive Value of Tests; D011634:Public Health / Q000639:trends*; D015203:Reproducibility of Results
D005819:Genetic Markers