In a time of increasing competition for clinical services resources, it is imperative that health professionals actively participate in the commissioning process in order to ensure that established clinical standards are not compromised. Introduction of the NHS reforms in the UK in the early 1990s highlighted the difficulties in contracting for a specialised service such as clinical genetics, e...

Throughout the history of medicine, patients and their relatives at risk of a disorder have been sought information and advise on the consequences of a disorder, the probability of developing or transmitting it and of the ways in which this may be prevented or avoided. Genetic risk assessment is the basic essence of clinical genetics. Clinical geneticists focus on probability and risk estimate,...

Amniocentesis, and other prenatal genetic tests, have become a well-established feature of modern prenatal care. But these tests place a considerable decision-making burden on the expectant mothers to whom they are offered: the genetic issues involved are complex and the appropriate course of action sometimes ambiguous. Genetic counseling aims to help pregnant clients make an informed decision ...

OBJECTIVE To describe the population of women in southwestern Ontario who were diagnosed with potentially preventable BRCA mutation-related breast cancer. DESIGN Retrospective chart review. SETTING The Cancer Genetics Clinic of the London Regional Cancer Program in London, Ont. PARTICIPANTS Patients younger than 52 years of age who were referred to the London Regional Cancer Program Cance...

BACKGROUND Haemoglobinopathies are seen mostly in regions where malaria occurs or has occurred, but population migration has resulted in affected individuals being identified in many countries globally. The first molecular genetics services for diagnostic testing and prenatal diagnosis were established, both worldwide and in South Africa (SA), for haemoglobinopathies. OBJECTIVE To analyse the...

Genetic counselling for familial cancer has evolved as a medical speciality relatively recently. Whilst services for families at risk of inherited cancers may be similar to those offered to other families at risk of serious adult-onset conditions, the resource implications are larger due to the number of families potentially affected. Genetic counsellors can make a considerable contribution to ...

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...

About 3% of all conceptions are associated with major congenital malformations, many of them are lethal developmental defect and genetic in origin or teratogenic (adverse effects of the environment during gametogenesis or early embryogenesis). Genetics with or without adverse environment has role in virtually every developmental defect/malformation disorders in causation, predisposition, suscep...

OBJECTIVE In 2001, the province of Ontario expanded cancer genetic testing eligibility to include all women with high-grade serous ovarian carcinoma (HGSC) of the ovary, fallopian tube, and peritoneum. The aim of this study was to determine the proportion of women who attended genetics counseling for consideration of BRCA1/2 gene analysis. We also sought to examine if regional differences in co...

Pneumoviruses are responsible for significant respiratory disease in their hosts and represent a major problemfor human and animal health. Pneumoviruses are members of the family Paramyxoviridae, subfamilyPneumovirinae and the virus particles consist of a negative-sense, nonsegmented RNA genome within a helical nucleocapsid structure enveloped in a lipid membrane derived from the ho...