The science of medical genetics is progressing rapidly. The practical importance of this pro­gress should be considered by medical doctors. Both genetic and environmental factors are involved in the abnormail phenotypes considered diseases. The relative significance of the two factors varies from disease to disease. All di­seases can be viewed as falling on a spectrum in this regard. Hereditary...

Genetic testing uses advanced laboratory techniques to identify protein alterations, certain metabolites, chromosomes, or nucleic acids by which a genotype is determined or inferred. These tests provide insights into the molecular basis and physiopathology of genetic diseases, information which is critical for prevention, treatment and genetic counseling. Initiated in 1982, Cuba's National Prog...

The Cochran-Armitage trend test is a standard procedure in genetic association studies. It is a directed test with high power to detect genetic effects that follow the gene-dosage model. In this paper, the author proposes optimal trend tests for genetic association studies of heterogeneous diseases. Monte-Carlo simulations show that the power gain of the optimal trend tests over the conventiona...

Whilst the NHS provides genetic tests to detect rare monogenic disorders, such tests are strictly regulated and genetic counselling is provided to help people decide whether to take the tests and to help them interpret the results. The conditions that are screened for must fit a number of criteria including that the condition must be serious, and effective treatment or intervention must be avai...

Marketers of genetic tests often openly or implicitly misrepresent the utility of genetic information. Scientists who are well aware of the current limitations to the utility of such tests are best placed to publicly counter misrepresentations of the science.