Overview
What are genes?
Genes are the part of a body cell that contain the biological information that parents pass to their children. Genes control the growth and development of cells. Genes are made of DNA (deoxyribonucleic acid), a substance inside the center (nucleus) of cells that contains instructions for the development of the cell.
You inherit half of your genetic information from each birth parent. Genes, alone or in combination, determine what features (genetic traits) a person inherits from their parents, such as blood type, hair color, eye color, and other characteristics, including risks of developing certain diseases. Certain changes in genes or chromosomes may cause problems in various body processes or functions.
What are chromosomes?
Many genes together make up larger structures within the cell called chromosomes. Each cell normally contains 23 pairs of chromosomes.
A human has 46 chromosomes (23 pairs). One chromosome from each pair comes from each birth parent. One of the 23 pairs determines your sex. These sex chromosomes are called X and Y.
- For a child to be female, she must inherit an X chromosome from each parent (XX).
- For a child to be male, he must inherit an X chromosome from his mother and a Y chromosome from his father (XY).
Some genetic conditions are caused when all or part of a chromosome is missing or when an extra chromosome or chromosome fragment is present.
What is genetic testing?
Genetic testing includes any type of test that checks a person's DNA. Tests often use a sample of cells or tissue to look for changes in genes, chromosomes, or proteins. These changes can be a sign of a disease or a sign of an increased risk for getting a disease.
Testing may be done to:
- Find out if you carry a changed (mutated) gene for an inherited disease, such as cystic fibrosis.
- Find out if your fetus is at risk for a genetic condition such as Down syndrome.
- Find out if you carry a changed gene that increases your risk for a disease later in life, such as breast cancer.
- Find out if you have an inherited heart disease called hypertrophic cardiomyopathy.
- Check for genetic changes that may affect your treatment for an existing disease.
- Find out if you have inherited gene changes that affect your response to medicines.
- Identify family members, crime suspects, or victims of war or disasters.
How can genetic counseling help?
The results of genetic testing can affect your life. It may be a good idea to get genetic counseling before deciding to have testing. Genetic counselors can explain the pros and cons of testing, but you make the decision about whether to have the test. A genetic counselor can help you make well-informed decisions. Genetic counseling can help you and your family:
- Understand medical facts about a disease and what you may be able to do to manage it.
- Understand how your family history contributes to the development of a disease.
- Explain the results of a genetic test.
- Help you find resources, including getting referrals to specialists or finding local support groups.
Genetic counselors have specialized training in medical genetics and counseling. They are sensitive to the physical and emotional aspects of these decisions. Your privacy and confidentiality are carefully protected.