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Precision medicine refers to using detailed information collected on a patient, including information about their genes, to better prevent, diagnose, and treat diseases. Precision medicine is not a new concept, but it has gained momentum in the past decade due to advances in sequencing technology. The human genome provides the instructions for making every protein that your body needs to survive.

Types of genetic testing

Diagnostic testing for a condition

Testing for a genetic condition after having one or more symptoms that are associated with the condition and/or a family history

A woman with breast cancer undergoing testing for BRCA1/2
A child with a history of seizures undergoing an epilepsy panel

Genetic testing for healthy individuals

Testing for a genetic condition for individuals without any symptoms or a strong family history that would indicate testing

A healthy individual taking a proactive genetic panel for oncology conditions

Drug response or Pharmacogenomics testing

Testing for genes that affect how drugs are broken down (metabolized) or that might put an individual at a higher risk of an adverse event from the medication

A woman taking a commonly prescribed heart medication being tested for CYP2C19 to determine if she may be at higher risk for a heart attack or stroke
A man on a tricyclic antidepressant being tested for CYP2D6 to aid in determining appropriate dosage

Carrier testing for recessive genetic disorders

Recessive genetic conditions require both copies of an individual’s gene to be non-functional in order for the person to have the condition. Carrier testing is testing a person or couple to determine if just one of the copies is non-functional. If so, then their children would be at risk for the condition.

Any couple planning a pregnancy
An individual of an ethnicity for which there is a high frequency of being a carrier for a specific recessive condition

Prenatal testing for chromosomal abnormalities or other genetic conditions

Testing prior to or during pregnancy that is looking for serious genetic conditions or differences in the chromosomes (physical structures that carry the genes) that may impact a pregnancy or newborn baby

History of two or more miscarriages
A woman who is pregnant at or after the age of 35

Learn about precision medicine

These courses closely track the rapidly evolving field of genomics and precision medicine and are designed to be accessible to lay audiences without a background in genetics.