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APOGEE-Net/CanGèneTest is an international research and knowledge network studying health care and health policy challenges in genetic services, including genetic laboratory services. Its general objective is to streamline the technology transfer of clinically useful and cost/effective genetic innovations towards the health care system and support the development of evidence-informed health policies.Through a multidisciplinary approach, we aim to study the path that links the fundamental research discoveries in genetics to the use of molecular diagnostic tests in the clinical setting. Moreover, with our e-Newsletter and this WEB site, we expect to contribute to disseminate timely and relevant scientific materials to colleagues interested in this broad field of research, downstream of the gene discovery, necessary to translate the clinically valid and useful discoveries into novel health care services. CanGèneTest Newsletter Highlights : |
| jul 5 2010 10th Course in Genetic Counselling in Practice This course will take place September 18 – 22, 2010 in Bologna, Italy. It is designed for professionals working in a genetic counseling setting or considering setting up a new service. It is also appropriate for professionals who need a knowledge of genetic conditions or testing for their work in other specialties, such as midwifery, pediatrics, oncology or neurology. It provides a comprehensive overview of all aspects of genetic counseling for those who are relatively new to the field, but can be as a refresher course for those who are experienced. Clinical genetics, applications and use of genetic testing, counselling skulls and ethical practice are topics covered by the experienced faculty in a friendly learning environment. | |
| jul 5 2010 Direct-to-Consumer Genetic Testing - Report of the Secretary’s Advisory Committee on Genetics, Health, and Society In this report, the U.S. Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) highlights the importance of minimizing the harms and maximizing the benefits of Direct-to-Consumer (DTC) genetic testing. To this end, consumers need complete, accurate, and balanced information describing the benefits, risks, and limitations of such testing, along with appropriate oversight regulations that are effective and that are enforced. | |
| jul 5 2010 Newborn screening programmes including genetic analyses: limits and risks of negative consequences? (restricted access) Newborn screening for inherited disorders enables early identification of affected children and intervention to prevent or mitigate morbidity and mortality associated with these conditions. Since 1962, most areas throughout the world have developed newborn screening (NBS) programmes including for more than 50 serious disorders.1 2 While most diseases are screened by biochemical techniques only, the NBS programme for cystic fibrosis (CF), which is being implemented in an increasing number of countries (USA, UK, Spain, France, Italy, Australia, Czech Republic, Poland …),3 4 relies on determination of immunoreactive trypsinemia (IRT) and subsequent screening for 30 common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene when IRT is above 65 ug/l. Such programmes require careful attention on mutations to be included in the screening panel. | |
| jul 5 2010 Molecular prenatal diagnosis: the impact of modern technologies (restricted access) This paper briefly review the history of molecular prenatal diagnostic testing, using Duchenne muscular dystrophy as an example, and describe how over the last 30 years we have moved from offering testing to a few affected individuals using techniques, such as Southern blotting to identify deletions, to more rapid and accurate PCR-based testing which identifies the precise change in dystrophin for a greater number of families. The authors discuss the potential for safer, earlier prenatal genetic diagnosis using cell free fetal DNA in maternal blood before concluding by speculating on how more recent techniques, such as next generation sequencing, might further impact on the potential for molecular prenatal testing. | |
| jul 5 2010 Center for Genetics and Society The Center for Genetics and Society is a non-profit information and public affairs organization working to encourage responsible uses and effective societal governance of the new human genetic and reproductive technologies. It has a growing network of scientists, health professionals, civil society leaders, and others. The Center supports benign and beneficent medical applications of the new human genetic and reproductive technologies, and opposes those applications that objectify and commodify human life and threaten to divide human society. | |
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