Advances in the genetic basis of kidney disease may mean that genetic testing is increasingly important in reducing disease morbidity and mortality among patients. However, there is little research examining patient responses to genetic information for Mendelian and common kidney diseases. Existing research on kidney and other hereditary cancer syndromes can inform three major issues relevant t...

Genetic counseling is a well-established healthcare discipline that provides individuals and families with health information about disorders that have a genetic component in a supportive counseling encounter. It has recently been applied in the context of psychiatric disorders (like schizophrenia, bipolar disorder, schizoaffective disorder, obsessive compulsive disorder, depression and anxiety...

The approach to a patient with a possible neurogenetic disorder is a complex process that challenges the physician's knowledge, diagnostic acumen and counseling abilities. This article focuses on six aspects of the process: 1. Clues suggesting the presence of a genetic disease, 2. The importance of family history, 3. The interpretation of sporadic cases, 4. Genetic counseling, 5. Genetic testin...

BACKGROUND Recent advances in schizophrenia genetics are shedding new light on etiopathogenesis, but issues germane to translation of findings into clinical practice are relatively understudied. We assessed the need for, and efficacy of, a contemporary genetic counseling protocol for individuals with schizophrenia. METHODS After characterizing rare copy number variation in a cohort of adults ...