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A presentation on definitions of genetic testing and health technology assessment for an effective translation of genetic knowledge into the clinical practice. Summary: 1)“Genetic information” 2)Definitions of “genetic testing”? 3)HTA and regulatory aspects of genetic testing
A presentation on the European Quality Molecular Genetics Network BP guidelines to improve quality of molecular genetics diagnosis in the spinocerebellar ataxias (SCAs)
Presentation given at the 2010 annual meeting of the European Society of Human Genetics: Technology reaching the clinic: an overview. A (forever) changing landscape. Subjects are: CNV detecting deletions and duplications, population screening, SNP-typing, mutation detection techniques, targeted seq ...
Genetic counselling has been perhaps the most important way of assisting families with a hereditary disease in managing the consequences of the disease, and in helping individuals at-risk to find creative solutions for their problems. The increased awareness of the genetic aspects of a disease, and ...
The term screening applies to the application of a test or tests in a general population in which most individuals will be considered at low risk.1 Screening is used as a method of identifying those in the population whose risk might be significantly high to warrant the offer of further diagnostic t ...
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