Search Results
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 …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden is the name of a specific mutation (genetic alteration) that results in thrombophilia, … in blood vessels. People who have the factor V Leiden mutation are at somewhat higher than average risk for a type … a screening test called a coagulation screening test or by genetic testing (DNA analysis) of the F5 gene. …
Fact Sheets
A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.
… whether the DNA from a particular individual contains a mutation in genes. … Scientists know that a mutation - or alteration - in a particular gene's DNA may … breast and ovarian cancers. But there is not one specific mutation responsible for all of these cases. Researchers have …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… A single mutation in the Gaucher disease gene, GBA1, is frequently … percent of patients with Parkinson's disease carry a GBA1 mutation. Dr. Sidransky has conducted research on Gaucher … Mouse model for rare genetic disease advances understanding of Parkinson's …
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 …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even … efforts sometimes shrink the path for establishing the genetic basis for a rare condition from decades (and … over time. They obtained testing for a number of known genetic conditions , but Bertrand did not have any of them. …
Educational Resources
The Genetic Information Nondiscrimination Act (GINA) is federal legislation that makes it unlawful to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment.
… Genetic Information Nondiscrimination Act (GINA) … The Genetic Information Nondiscrimination Act (GINA) is federal … to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment. … Genetic Information Nondiscrimination Act, GINA, Federal …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases Information Center (GARD)  was … accurate information - in both English and Spanish - about genetic and rare diseases. So far, GARD has responded to over …
For Teachers
The genetic timeline lesson plan gives students an historical perspective of the discoveries that led to our present understanding of the human genome.
… The genetic timeline lesson plan gives students an historical … The genetic timeline activity may be most effectively done at the … take two periods. Preparation Print out two copies of the Genetic Timeline  boxes of discoveries. Use one as the master … Genetic Timeline Lesson Plan …
Talking Glossary
Understand the terms and concepts used in genetic research
… Genetic Ancestry … Genetic ancestry refers to information about the people that … individual is biologically descended from, including their genetic relationships. … Genetic ancestry refers to information about the people that … individual is biologically descended from, including their genetic relationships. Genetic information can be combined …