The introduction of clinical genome-wide sequencing raises complex issues regarding the management of incidental findings. However, there is a lack of empirical studies assessing views of providers involved in potential disclosure of such findings. In an anonymous survey of 279 clinical genetics professionals, we found that the vast majority of participants agreed that they were interested in k...

BACKGROUND Keloids are proliferative fibrous growths that result from an excessive tissue response to skin trauma. Most keloids occur sporadically, but some cases are familial. However, the genetics of keloid formation have only rarely been documented, and the mode of inheritance is not known. OBJECTIVE To elucidate the clinical genetic characteristics of keloid wound-healing disorder. OBSE...

This paper discusses the results of a survey of medical and paramedical opinion relating to various difficult ethical issues in clinical genetics. These include the confidentiality of the doctor-patient relationship, prenatal diagnosis and termination, and Huntington's chorea. It is suggested that this method provides a useful means of assessing what is ethically acceptable in contemporary soci...

By 2005, or sooner, the three billion code let1:ers of a repr«~sentative human genome will be known, along with thE! locations of all of its genes. Even today, however, the work is greatly acctelerating identification of disease..related genes. One outcome will be tlests for genetic components of risk in the majority of common illnesses. In the longer run, genetic discoveri«~s will surely lead ...

Genetic, and indeed genomic, imprinting does occur in humans. This is manifest at the level of the genome, the individual chromosome, subchromosomal region or fragile site, or the single locus. The best evidence at the single gene level comes from a consideration of familial tumour syndromes. Chromosomal imprinting effects are revealed when uniparental disomy occurs, as in the Prader-Willi synd...

New CliNiCal GeNetiCs – 2 Nd editioN. The second edition of this book within four years of the first edition, shows how fast moving the specialty of genetics is – the up to date changes from the recent first edition means that the book justifies its title. The primary readership here is for medical students, but the clinical information would be of interest to all branches of medicine, and thos...

Alzheimer's disease (AD) is the most common progressive neurodegenerative disease and the most common form of dementia in the elderly. It is a complex disorder with environmental and genetic components. There are two major types of AD, early onset and the more common late onset. The genetics of early-onset AD are largely understood with mutations in three different genes leading to the disease....

OBJECTIVES Epilepsy genetics has undergone a revolution in the past 19 years since the discovery of the first gene for epilepsy. The story of our increasing knowledge and how it impacts on patient care is presented with reference to recent discoveries. Understanding the significance of a genetic variant is challenging both in terms of molecular pathogenicity and in how this finding fits into th...

Cancer family history has been known to be one of the main risk factors. Members of high – risk families should be given recommendations, which may improve prophylaxis, early diagnosis and treatment. At present time is possible to identify several genes involved in the hereditary forms of some types of cancers including colorectal and breast/ovarian. Hereditary forms of breast cancer are mostly...