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Fact Sheets

A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.

… it can be very difficult to develop a test to detect these mutations, because most large genes have many regions where mutations can occur. For example, researchers believe that mutations in the genes BRCA1 and BRCA2 cause as many as 60 …

Educational Resources

Genetic Map

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 … locations of genes and other important features. … Genetic Map, Chromosome, Genes, Linkage Analysis, Family Health History … A genetic map (also called a linkage map) shows the relative …

Policy Issues

Regulation of Genetic Tests

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 … claims of the seller. … Several federal agencies regulate genetic tests: the Food and Drug Administration (FDA), the …

Genetic Disorders

About Factor V Leiden Thrombophilia

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, or an … This variability is influenced by the number of F5 gene mutations a person has, the presence of other gene … a screening test called a coagulation screening test or by genetic testing (DNA analysis) of the F5 gene. … The …

Professional Development Programs

JHU/NIH Genetic Counseling Training Program (GCTP)

The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.

… August 21, 2024 Update: The NIH-funded Genetic Counseling Training Program is temporarily pausing … you on the current needs and challenges associated with genetic counseling while we plan to launch a new effort to … have collaborated to develop and support the JHU/NIH Genetic Counseling Training Program (GCTP), a competitive …

15 Ways Genomics Influences Our World

Rare Genetic Diseases

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 … mutation in each copy of a gene called NGLY1 . Bertrand's mutations meant that he had no functioning copy of this gene, …

Policy Issues

Coverage and Reimbursement of Genetic Tests

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. … Genomic medicine has the … of the human genome has created new opportunities for genetic tests to predict, prevent and treat disease. Tests …

News Release

Study identifies novel genomic changes in the most common type of lung cancer

Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.

… Genome Atlas (TCGA) Research Network have identified novel mutations in a well-known cancer-causing pathway in lung … we now have a comprehensive understanding of many of the genetic pathways that lead to cancers of the lung," said NCI … technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be …

Educational Resources

Genetic Information Nondiscrimination Act (GINA)

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 …

For Patients and Families

Genetic and Rare Diseases Information Center

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 …