PURPOSE This study examined the referral process for genetic counseling at a cancer genetics clinic in patients with colorectal cancer and to search for determinants of variation in this referral process. METHODS Patients who were recently diagnosed with colorectal cancer at a young age or multiple cancers associated with Lynch syndrome, hereditary nonpolyposis colorectal cancer, (N = 119) we...

This volume is the eighth edition of a book which first appeared in 1940. The science of genetics has changed much since then, and so has the book. For the second time it has Dr. Marcus Pembrey as joint author. Developed to fill a void in the field of medical genetics, the book continues to meet a need in the education of physicians. It aims to show how the science of human genetics plays an im...

This volume is the eighth edition of a book which first appeared in 1940. The science of genetics has changed much since then, and so has the book. For the second time it has Dr. Marcus Pembrey as joint author. Developed to fill a void in the field of medical genetics, the book continues to meet a need in the education of physicians. It aims to show how the science of human genetics plays an im...

BACKGROUND With advances in genetic and genomic medicine, the optimal integration of genetic services into the health care system remains of major concern in many countries. OBJECTIVES To review the current organisation of genetic services, mostly in Europe, North America and Australia, explore emerging service delivery models, and probe challenges inherent in the transition process. METHOD...

A great deal of progress has recently been made in the discovery and understanding of the genetics of familial dilated cardiomyopathy (FDC). A consensus has emerged that with a new diagnosis of idiopathic dilated cardiomyopathy (IDC), the clinical screening of first-degree family members will reveal FDC in at least 20% to 35% of those family members. Point mutations in 31 autosomal and 2 X-link...

Mitochondrial cytopathies are caused by genetic alterations of nuclear- or mitochondrial-encoded genes involved in the synthesis of subunits of the electron transport chain. Mutations of mitochondrial DNA are associated with a wide range of clinical presentations [1-4]. The ubiquitous nature of mitochondria and the role of the mitochondria in cellular metabolism result in the potential for any ...

In the Arabian Peninsula, high percentages of consanguineous marriages and the tribal nature of marriages have resulted in high incidence of genetically based disorders. The successful management of these disorders incurs a high financial cost, which is a great burden on the health care system. The practical solution to this problem is through prevention. Prevention of genetic disorders should ...

ter, it is not uncommon for anesthesiologists to counsel and anesthetize such patients. Often, patients are advised of their possible genetic disposition and a trigger-free general or regional anesthetic technique is used, with safe results. Anesthesiologists are often in the difficult position of meeting a patient for the first time minutes before the start of a procedure and do not have all o...