Diagnostic Genetic Testing

David Bourn, Ph.D., FRCPath, is a UK-based state registered clinical scientist and the head of an NHS Regional Genetics laboratory, who has worked in the NHS for more than 25 years. Prior to his involvement in diagnostic genetics, he spent some years in research, with his Ph.D. and the bulk of his postdoctoral work in the field of human molecular genetics. His links with Human Genetics Departments go back to the 1980s and in addition to his familiarity with the evolution of genetic testing over the past three decades, he has an enduring interest in the wider implications of this testing.

• Genetic Testing, Some Themes and Some Basics.- Autosomal Dominant Inheriance and Huntington Disease.- Autosomal Recessive Inheritance and Cystic Fibrosis.- X-linked Inheritance: a Question of Gender.- Genetics Testing in Cancer.- DNA Testing, Genes and Identity.- Out of Sequence: Genome-Scale Testing .- DNA Testing: Pulling the Strands Together.