View clinical trials related to Genetic Testing.
Filter by:To date, there are highly effective lipid-lowering drugs, the combination of which makes it possible to achieve the target level of LDL-C in most patients with familial hypercholesterolemia (FH). However, the effectiveness of treatment of FH patients strongly depends on adherence to lipid-lowering therapy and to the healthy lifestyle, as well as the detection of the disease and the therapy prescription as early as possible, better in childhood. The aim of the study is to assess the impact of genetic testing and motivational counseling on the effectiveness of treatment and cascade screening in patients with FH.
Recent recommendations to return children's results for adult-onset conditions to parents anytime whole exome or genome sequencing is performed, as well as growing expectations to return research results to participants on a large-scale basis, mean adolescents will increasingly be engaged in assenting (<age 18) and consenting (>age 18) to return of genomic research results. There is an urgent need to understand adolescents' informational preferences and to create ethically informed, scalable processes that empower adolescents from diverse backgrounds to participate in the decision-making process about learning genomic results. This research will provide important insights into adolescents' choices, as well as the ethical, legal and societal implications of engaging adolescents in making choices about learning genomic results in genomic research and community-based research settings.
This study is designed to determine the impact of a novel genetic counseling method on surgical decisions in individuals with newly diagnosed breast cancer This research study involves an expedited and surgery-specific form of genetic counseling. The names of the study methods involved in this trial are/is: - Quantitative genetic counseling (discussion is guided by tables and graphs) - Standard genetic counseling
Analysing Impact of preemptive genetic testing on quality of life, physical activity and eating behavior at baseline and 3 months after testing.
Recruitment of a carefully characterized cohort of chILD patients, to generate a database and biobank via collecting data on chILD in China. Importantly, compatibility with ongoing United States and Europe chILD data base developments will be factored in.
The purpose of this study is to describe how women with BRCA1/2 mutations react to genetic risk modifier testing, and to examine how they make decisions about their healthcare.
The objectives are to: 1. Assess patient's views and preferences in receiving expanded carrier screening 2. Perform qualitative study on post testing counselling on screen positive individuals and at risk couples
Pulmonary arterial hypertension (PAH) in patients with congenital heart disease (CHD) is associated with considerable morbidity and even mortality. Next to environmental risk factors, the investigators believe that there is an important role of genetic predisposition to develop PAH in CHD. There often is a discrepancy between the severity of PAH and the CHD, where it is useful to screen for PAH gene mutations. The investigators hypothesize that the genotype is partly responsible for the phenotypic variability in patients with congenital shunt lesions, where some develop PAH and others do not. If a genetic predisposition for PAH in CHD could be identified, then genetic screening could be a useful additional tool for early detection of patients at risk of pulmonary vascular disease and PAH development, with new opportunities for prevention or early treatment.
This study is being done to learn more about how changes in certain genes may be linked to cancer. Some people with cancer got their disease because they inherited an abnormal (mutated) gene. The researchers of this study want to better understand the risks that are linked to genetic changes in these less well-studied genes. By understanding these risks, we believe that doctors will be able to give better advice to families with mutations in these genes.
The purpose of this study is to collect blood samples to enable validation of genetic testing for diseases within a multi-disease carrier screening panel. Samples will be collected from adult women or men who have previously tested positive as carriers for various recessive conditions. These are healthy adults who carry a mutation that might place them at increased risk of having a child with a specific genetic disorder. Study participation will be open to adults that were previously tested as part of their routine medical care and where test results demonstrated positive carrier status for a specific genetic disease. Samples will be tested for the disease mutation for which the subjects provides documentation of prior testing.