Glossary

"Genetic counselors have advanced training in medical genetics and counseling to interpret genetic test results, and to guide and support patients seeking more information about such things as how inherited diseases and conditions might affect them or their families; how family and medical histories may impact the chance of disease occurrence or recurrence; which genetic tests may or may not be right for them, and what those tests may or may not tell; and how to make the most informed choices about healthcare conditions." ("Who are Genetic Counselors?" National Society of Genetic Counselors. Accessed May 8, 2018). 

The National Institutes of Health's genetic data sharing policy "sets forth expectations that ensure the broad and responsible sharing of genomic research data. Sharing research data . . . is essential to facilitate the translation of research results into knowledge, products, and procedures that improve human health." ("Genomic Data Sharing Policy." National Institutes of Health. Accessed May 8, 2018). 

"An alteration in the most common DNA nucleotide sequence. The term variant can be used to describe an alteration that may be benign, pathogenic, or of unknown significance. The term variant is increasingly being used in place of the term mutation." (NCI Dictionary of Cancer Terms, National Cancer Institute. Accessed June 19, 2018).

The study of heredity; refers to the functioning of a single gene.

"When a clinician orders a genetic test to discover the genetic cause of a particular condition, the test will often sequence one or a few genes that seem most likely to be associated with that individual’s set of signs and symptoms. However, if the individual’s signs and symptoms do not have an obvious genetic cause, a clinician might order a test that sequences all of the pieces of an individual's DNA that provide instructions for making proteins (called an exome) or a test that sequences all of an individual’s DNA building blocks (nucleotides), called a genome. These tests are called whole exome sequencing and whole genome sequencing, respectively." ("What are Secondary Findings from Genetic Testing?" Genetics Home Reference, US National Library of Medicine. Accessed May 7, 2018). 

Large, publicly available data sets funded by the NIH to ease data sharing and ensure transparency for scientists studying genomics. ("Human Genome Resources at NCBI." US National Library of Medicine, National Center for Biotechnology Information. Accessed May 8, 2018).

The study of genes and their functions, interrelationships, and combined influence, including the study of an entire exome or genome.

"The Genetic Information Nondiscrimination Act of 2008, also referred to as GINA, is a federal law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health. The law prevents discrimination from health insurers and employers." ("Genetic Information Nondiscrimination Act of 2008." National Human Genome Research Institute. Accessed May 9, 2018).