Genetic discrimination is detrimental to public health programs, as well as to society generally. Advances in genetic testing and screening, accelerated and prompted by the Human Genome Initiative, increase society's ability to detect and monitor chromosomal differences. These technologies and their resulting genomic data will enhance medical science, but may also encourage discrimination. Alth...

New genetic technologies open up the possibility of predictive screening, both for individual genetic risk factors for susceptibility to workplace hazards and for late onset (both single gene and multifactorial) hereditary disease. Although the initiative for testing may lie with employers and employees there are many potential stakeholders--from family members and workplace colleagues to insur...

The Expert Group, invited by European Commission’s Research Directorate-General, prepared 25 recommendations related to the use of genetic testing in health care systems and genetic testing as a method of research. This paper presents in detail the recommendations crucial for laboratory diagnostics and research. Genetic testing and genetic data, are a part of the spectrum of all health-care inf...

BACKGROUND Intimate partner violence (IPV) is a serious social issue in Japan. In order to start effective interventions for abused women, the appropriate method of screening for IPV in healthcare settings needs clarifying. The objective of this study was to compare the effectiveness of a face-to-face interview with a self-administered questionnaire. We used the Violence Against Women Screen (V...

Preimplantation genetic testing (PGT) involves analysis of biopsied cells as part of an assisted reproductive procedure. It is generally considered to be divided into 2 categories. Preimplantation genetic diagnosis (PGD) is used to detect a specific inherited disorder and aims to prevent the birth of affected children in couples at high risk of transmitting a disorder. Preimplantation genetic s...

BACKGROUND The goal of newborn screening is early identification of babies with a high risk for disorders that may not be clinically evident at birth, but have severe consequences if untreated. New insight into inherited diseases and the ability to test for numerous diseases using new technique such as tandem mass spectrometry have made it practical to greatly expand the number of conditions te...

Newborn screening is the largest genetic testing effort in the United States and is considered one of the ten great public health achievements during the first 10 years of the 21st century. For over 35 years, the Newborn Screening Quality Assurance Program (NSQAP) at the US Centers for Disease Control and Prevention has helped NBS laboratories ensure that their testing does not delay diagnosis,...

An opportunistic rubella screening programme in a general practice is described. Self-adhesive stickers placed on the medical records envelope were used to alert staff and to record information on rubella status. Out of the total target population of women aged between 10 and 40 years, three sample cohorts were audited: the 15, 20 and 30 years age groups. Between the first and second audits a p...

Early diagnosis of Duchenne muscular dystrophy (DMD) is widely advocated to initiate proactive interventions and genetic counselling. Genetic testing now allows the diagnosis of DMD even prior to the onset of symptoms. However, little is known about care practices and their impact on young DMD boys and families after receiving an early diagnosis. We analysed 64 young boys (Japan, 19; the United...

Knowledge of the opinions of physicians with regard to preconceptional cystic fibrosis (CF) carrier screening and the possible factors that are associated with their opinions is important for the implementation of such a screening program. Data were obtained from a study in which genetic knowledge, opinions with regard to genetic testing and related skills were investigated. A questionnaire, de...