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More About Genetic Testing

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. More than 1,000 genetic tests are currently in use, and more are being developed.

Several methods can be used for genetic testing

  • Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to identify variations or mutations that lead to a genetic disorder.
  • Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.

What are the different types of genetic tests?

  • Diagnostic testing is used to precisely identify the disease that is making a person ill. The results of a diagnostic test may help you make choices about how to treat or manage your health.
  • Predictive and pre-symptomatic genetic tests are used to find gene changes that increase a person's likelihood of developing diseases. The results of these tests provide you with information about your risk of developing a specific disease. Such information may be useful in decisions about your lifestyle and healthcare.
  • Carrier testing is used to find people who "carry" a change in a gene that is linked to disease. Carriers may show no signs of the disease; however, they have the ability to pass on the gene change to their children, who may develop the disease or become carriers themselves. Some diseases require a gene change to be inherited from both parents for the disease to occur. This type of testing usually is offered to people who have a family history of a specific inherited disease or who belong to certain ethnic groups that have a higher risk of specific inherited diseases.
  • Prenatal testing is offered during pregnancy to help identify fetuses that have certain diseases.
  • Newborn screening is used to test babies one or two days after birth to find out if they have certain diseases known to cause problems with health and development.
  • Pharmacogenomic testing gives information about how certain medicines are processed by an individual's body. This type of testing can help your healthcare provider choose the medicines that work best with your genetic makeup.
  • Research genetic testing is used to learn more about the contributions of genes to health and to disease. Sometimes the results may not be directly helpful to participants, but they may benefit others by helping researchers expand their understanding of the human body, health, and disease.

What are genetics and genomics?

Genetics is a term that refers to the study of genes and their roles in inheritance - in other words, the way that certain traits or conditions are passed down from one generation to another. Genetics involves scientific studies of genes and their effects. Genes (units of heredity) carry the instructions for making proteins, which direct the activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis, Huntington’s disease, and phenylketonuria (PKU).

Genomics is a more recent term that describes the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment. Genomics includes the scientific study of complex diseases such as heart disease, asthma, diabetes, and cancer because these diseases are typically caused more by a combination of genetic and environmental factors than by individual genes. Genomics is offering new possibilities for therapies and treatments for some complex diseases, as well as new diagnostic methods.

Why are genetics and genomics important to my health?

Genetics and genomics both play roles in health and disease. Genetics helps individuals and families learn about how conditions such as sickle cell anemia and cystic fibrosis are inherited in families, what screening and testing options are available, and, for some genetic conditions, what treatments are available.

Genomics is helping researchers discover why some people get sick from certain infections, environmental factors, and behaviors, while others do not. For example, there are some people who exercise their whole lives, eat a healthy diet, have regular medical checkups, and die of a heart attack at age 40. There are also people who smoke, never exercise, eat unhealthy foods and live to be 100. Genomics may hold the key to understanding these differences.

Apart from accidents (such as falls, motor vehicle accidents or poisoning), genomic factors play a role in nine of the ten leading causes of death in the United States (for example, heart disease, cancer and diabetes. All human beings are 99.9 percent identical in their genetic makeup. Differences in the remaining 0.1 percent hold important clues about the causes of diseases. Gaining a better understanding of the interactions between genes and the environment by means of genomics is helping researchers find better ways to improve health and prevent disease, such as modifying diet and exercise plans to prevent or delay the onset of type 2 diabetes in people who carry genetic predispositions to developing this disease.

Why are genetics and genomics important to my family's health?

Understanding more about diseases caused by a single gene (using genetics) and complex diseases caused by multiple genes and environmental factors (using genomics) can lead to earlier diagnoses, interventions, and targeted treatments. A person's health is influenced by his/her family history and shared environmental factors. This makes family history an important, personalized tool that can help identify many of the causative factors for conditions that also have a genetic component. The family history can serve as the cornerstone for learning about genetic and genomic conditions in a family, and for developing individualized approaches to disease prevention, intervention, and treatment.