نتایج جستجو برای: genetics counseling
تعداد نتایج: 106945 فیلتر نتایج به سال:
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 ...
A family study is presented in which the father of a girl with severe cystic fibrosis (CF) was also found to have CF but was mildly affected. He was diagnosed with three positive sweat tests including one after suppression with fludrocortisone. Genetic analysis showed that he is a compound heterozygote with the delta F508 CF mutation associated with haplotype B and a second CF mutation associat...
In inherited forms of breast cancer, attention in clinical genetics services has focused on women because they are most at risk of developing cancer. Men at risk of transmitting a predisposing gene mutation are less likely to have a genetic test than the women in these families. This preliminary study investigates the perspective of the brothers of women with familial breast cancer and is based...
In a pilot neonatal screening programme for Duchenne muscular dystrophy (DMD) conducted in the Canadian province of Manitoba, a cohort of eight affected males was identified between 1 January 1986 and 31 December 1989. Demographic information, knowledge of DMD, reproductive outcome, and attitudes to prenatal diagnosis and neonatal screening for DMD were obtained through questionnaires distribut...
PURPOSE AND SCOPE The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been developed to facilitate the clinical translation and development of best pra...
Genetic services were set up in Johannesburg, South Africa, in the late 1960s, but only became widespread and formalised after the first Professor of Human Genetics, Trefor Jenkins, was installed at the University of the Witwatersrand in 1974. The first services involved chromosome studies, and these developed into genetic counselling services. Prenatal diagnosis began to be offered, particular...
BACKGROUND Genetic testing for BRCA mutations has been available in the Western Cape of South Africa since 2005, but practical implementation of genetic counselling and testing has been challenging. OBJECTIVE To describe an approach to breast cancer genetic counselling and testing developed in a resource-constrained environment at Tygerberg Hospital in Cape Town, Western Cape. METHODS Genet...
BACKGROUND It is increasingly important that physicians have a thorough understanding of the basic science of human genetics and the ethical, legal and social implications (ELSI) associated with genetic testing and counseling. METHODS The authors developed a series of web-based courses for medical students on these topics. The course modules are interactive, emphasize clinical case studies, a...
BACKGROUND In 1996, the National Cancer Institute hosted an international workshop to develop criteria to identify patients with colorectal cancer who should be offered microsatellite instability (MSI) testing due to an increased risk for Hereditary Nonpolyposis Colorectal Cancer (HNPCC). These criteria were further modified in 2004 and became known as the revised Bethesda Guidelines. Our study...
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