Words to Know
BRCA1 and BRCA2
Genes that help to repair DNA and help to control cell growth. A harmful change in either of these genes means a person has Hereditary Breast and Ovarian Cancer syndrome, which causes a significantly increased risk for breast and ovarian cancer.
The part of a cell that contains genetic information. People have 23 pairs of chromosomes, 46 in all: 44 autosomes and two sex chromosomes. Each parent contributes one chromosome to each pair, so children get half of their chromosomes from their mothers and half from their fathers.
The medical expense paid by a patient that is not refunded by insurance. For example, a health plan might pay 80% of a medical bill and a patient will pay the remaining 20%. The 20% is the coinsurance amount.
Stands for deoxyribonucleic acid, a chemical used by living things to pass characteristics (called traits) from one generation to the next. DNA is often compared to a set of blueprints, a recipe or a code that contains genetic instructions used in the development and functioning of living organisms.
Determining the exact order of the base pairs in a segment of DNA. Sequencing can be used to detect disease-causing mutations.
A segment of DNA that contains the instructions to make a specific protein (or part of a protein). Genes are contained on chromosomes. Chromosomes, and the genes on those chromosomes, are passed on from parent to child. Errors in the DNA that make up a gene, also called mutations, can lead to diseases.
A short-term educational counseling process for people and families who have or are at risk for a genetic disease. Genetic counseling provides patients with information about their condition and helps them make informed decisions.
Prejudicial treatment of a person or a person’s family solely because of real or perceived differences in their heritage, including an inherited risk for disease. Genetic discrimination is illegal. The Federal Health Insurance Portability and Accountability Act of 1996, as well as state legislation in most states, guards the privacy of genetic information. In May 2008, the Genetic Information Nondiscrimination Act (GINA) was signed into law and will add to the protections that are in place on both the federal and state levels.
Genetic Information Nondiscrimination Act (GINA)
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. The President signed the act into federal law on May 21, 2008. The parts of the law relating to health insurers will take affect by May 2009, and those relating to employers will take affect by November 2009.
Something is typically called hereditary if it is something you are born with. Traits you inherit from your parents such as eye color, height or a risk for certain diseases, are passed from parent to child by information contained in genes. Sometimes diseases caused by a hereditary increased risk are also called “hereditary” (e.g., one is not born with breast cancer, but breast cancer caused by hereditary increased risk is called “hereditary breast cancer”).
A gene change in reproductive cells (egg or sperm) that becomes incorporated into the DNA of every cell in the body of offspring; hereditary mutations are passed on from parents to offspring. Also called germline mutation.
The Health Insurance Portability and Accountability Act (HIPAA), enacted by Congress in 1996, required the Department of Health and Human Services to establish national standards for electronic healthcare transactions and national identifiers for providers, health plans, and employers. In addition, HIPAA also contains provisions that address the security and privacy of health data and information.
Permission given to proceed with a specific test or procedure, with an understanding of the risks, benefits, limitations, and potential implications of the procedure itself and its results.
Lynch syndrome, also known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC), is the most common of the hereditary colon cancer syndromes and is believed to account for 3% to 5% of all colorectal cancers.
A medical drawing that includes all of a person’s close relatives, the relationship between family members, and health information. A pedigree is used by doctors to analyze a family for genetic diseases.
A change in a gene that is found in a large portion of the population. Polymorphisms may or may not be linked to specific diseases.
Preventive Surgery (also known as Prophylactic Surgery)
Surgery used to reduce the risk of a disease such as cancer by removing the organ(s) that could be affected, such as mastectomy (breast removal) and oophorectomy (ovary removal).
“Cancer previvors” are individuals who are survivors of a predisposition to cancer but who haven’t had the disease. This group includes people who carry a hereditary mutation, a family history of cancer, or some other predisposing factor. The medical community uses the term “unaffected carrier” to describe those who have not had cancer but have a BRCA or other cancer-predisposing mutation. Although cancer previvors face some of the same fears as cancer survivors, undergoing similar tests and confronting similar medical management issues, they face a unique set of emotional, medical, and privacy concerns.
The process of determining the order of the bases in a region of DNA. Sequencing analysis can be used to detect disease-causing mutations.
A drug used to treat certain types of breast cancer in women and men and to reduce the risk of breast cancer returning after treatment. It is also used to reduce the risk of breast cancer in women who are at high risk for developing cancer due to hereditary factors.
Transvaginal (Endovaginal) Ultrasound
A type of internal pelvic ultrasound used to look at a woman’s reproductive organs, including, the uterus, ovaries, cervix, and vagina. Transvaginal means across or through the vagina.