We report a family with a novel CSF1R mutation causing hereditary diffuse leucoencephalopathy with axonal spheroids. Family members presented with neuropsychiatric and behavioural symptoms, with subsequent development of motor symptoms and gait disturbance. MRI brain showed extensive white matter change with a frontal predominance and associated atrophy in two members of the family. Genetic tes...

Genetic testing for risk of depression requires a reconsideration of ethical issues in genetics and how they manifest in psychiatric practice. A precautionary approach is advocated in that there should be limits on the use of the 5-HTT genetic test until its clinical utility and broader social impact are better understood.

In considering the appropriate use of new genetic tests, clinicians and health care policymakers must consider the accuracy with which a test identifies a patient's clinical status (clinical validity) and the risks and benefits resulting from test use (clinical utility). Genetic tests in current use vary in accuracy and potential to improve health outcomes, and these test properties may be infl...

In my choice of launching the column with an article on predictive genetic testing, I was inspired by my work in the fi eld of Huntington’s disease. It often led me to think of how I would behave and what decisions I would choose if I were at risk of this fatal disease. The topic also seemed appropriate because of the debate on preimplantation genetic diagnosis at the German Parliament (Bundest...

We describe a simple genetic test for assessing the competency of Gal4-based baits prior to a yeast two-hybrid screen, which allows determination of whether a bait protein is expressed appropriately for an interaction to be detected. The novel test, based on interaction with the protein RanBPM, is easier and more predictive than other methods such as Western blotting, allowing identification of...

Genetic testing is a growing discipline in clinical practice, and it is being used to make treatment decisions and to counsel patients. Before genetic testing can be done, reliable information needs to be available on which genes are involved in a disease. Research into genetic determinants of disease often is based on articles reporting the magnitude of the heritability of disease. Here, we ad...

What role should surgeons play in the rapidly evolving field of genetic testing for cancer? Medical and legal experts told participants in the American College of Surgeons' spring meeting in Baltimore that surgeons should have an active, inquisitive role that focuses on the patient's family history. In addition to identifying a possible hereditary component to cancer in a patient and his or her...

This review surveys the developing market for direct-to-consumer (DTC) genetic tests and examines the range of companies and tests available, the regulatory landscape, the concerns raised about DTC testing, and the calls for enhanced oversight. We provide a comparative overview of the situation, particularly in the United States and Europe, by exploring the regulatory frameworks for medical dev...