Search Results
For Patients and Families
Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic testing uses laboratory methods to look at your … Genetic tests may be used to identify increased risks of … There are many different types of genetic tests. Genetic tests can help to: Diagnose disease Identify gene … or manage your health. Predictive and pre-symptomatic genetic tests are used to find gene changes that increase a …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… study shows genotype-first approach uncovers new links to genetic conditions. … to clinical attention,” says Caralynn Wilczewski, Ph.D., a genetic counselor at the National Human Genome Research … clinical findings based on their understanding of the disorder. The phenotype-first approach limits researchers …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
… Genetic Map … A genetic map is a type of chromosome map that shows the … Genetic Map, Chromosome, Genes, Linkage Analysis, Family … A genetic map (also called a linkage map) shows the relative location of genetic markers (reflecting sites of genomic variants) on a … A genetic map is a type of chromosome map that shows the …
Talking Glossary
Genetic architecture is the combined effect of all genetic influences on a trait.
… Genetic Architecture … Genetic architecture is the combined effect of all genetic influences on a trait. … Genetic architecture describes the combined contribution of all genetic influences on the trait. This includes how many genes … Genetic architecture is the combined effect of all genetic …
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… As the field of genomics advances, genetic and genomic tests are becoming more common in, and out of, the clinic. Yet most genetic tests today are not regulated, meaning that they go … Several federal agencies regulate genetic tests: the Food and Drug Administration (FDA), the …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… Mitochondrial diseases, metabolic disorders and cardio-genetic diseases Carlos Ferreira, M.D. Skeletal dysplasias, … Melissa Merideth, M.D., MPH Gynecologic aspects of genetic and metabolic diseases Drew Michael, Ph.D. Molecular … Program, Training Programs, Physicians, Metabolic Genetic Disorders, Rare Genetic Disorders, Newborn Screening …
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
… that an individual will be affected by a particular genetic disorder. … individual will be affected by a particular heritable or genetic disorder. Both a person’s genome and environmental exposures … that an individual will be affected by a particular genetic disorder. …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… the last tea party, she received gene therapy for her rare disorder, GM1 gangliosidosis. … to 200,000 babies are born with GM1 gangliosidosis, a genetic disorder caused by alterations in the DNA of a single gene, … skills, cognition and communication. Because most rare genetic disorders are due to a single faulty gene, gene …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… rarely requires transfusions. Thalassemia Major: A Serious Disorder The more severe form of the disease is thalassemia … Blood tests and family genetic studies can show whether an individual has … both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or …
Policy Issues
Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
… For patients to have full access to the benefits of genetic testing, payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement. … of the human genome has created new opportunities for genetic tests to predict, prevent and treat disease. Tests …