概述

A Mayo Clinic lab patient receives a thorough eye exam at Mayo Clinic's Department of Ophthalmology.

Mayo Clinic Department of Clinical Genomics uses genomic testing to personalize care. Our experts develop knowledge about a person's DNA to help predict, prevent, diagnose and treat disease. Our specialized approach allows us to individualize care at the deepest levels.

Mayo Clinic's Department of Clinical Genomics offers a wide variety of services, including comprehensive family history assessments, evaluations of risk for common genetic conditions, and entire genome sequencing to diagnose rare conditions.

In Mayo Clinic's Department of Clinical Genomics, medical geneticists, certified genetic counselors and nurses work together as a team, with other professionals as needed, to evaluate virtually any genetic condition and coordinate a wide array of tests and procedures.

If you're adopted or you don't know much about your family history, a visit to Clinical Genomics may be helpful if a genetic condition is suspected.

Services

Genetic counselor

Mayo Clinic's genetic counselors are licensed providers who have advanced training in medical genetics and counseling. A specialist may refer you to the genetic counseling team to review your family history, your personal health history, symptoms or your genetic risks for specific conditions.

A genetic counselor can explain your genetic testing options and provide information and support as you make decisions about genetic analysis that could impact your healthcare. Our team will help interpret genetic test results so that you and your healthcare team understand what the results mean for you and your family.

Genetic counselors at Mayo Clinic see patients who have concerns regarding a personal or family history of:

  • Cancer.
  • Neurological or neuromuscular disorders.
  • Certain types of heart disease.
  • Developmental delay or autism.
  • Birth defects.
  • Vision loss or hearing loss.
  • Metabolic disorders.
  • Many other rare diseases.

Topics you may want to discuss with your genetic counselor include:

  • Your chance of inheriting certain genes or conditions based on your personal medical history, family health history or both.
  • Your chance of passing on a genetic condition to your children.
  • How a certain genetic condition could impact your health or the health of family members.
  • Options for genetic testing, if available.
  • The benefits, risks and limitations of genetic testing for you, your family members or future children.
  • Ways to talk about and share information about a genetic condition with family members.
A Mayo Clinic geneticist consults with a patient.

Medical geneticist

A medical geneticist is a physician with expertise in genetics who makes or confirms a genetic diagnosis. The specialist may do a physical exam, order tests to confirm a diagnosis, explain the diagnosis, and help create a treatment plan tailored to your exact needs and genetic makeup.

Genetic testing

Genetic testing involves examining your DNA, the chemical database that carries instructions for your body's functions. Genetic testing can reveal changes (mutations) in your genes that may cause illness or disease.

At Mayo Clinic's Department of Clinical Genomics you will have access to the latest testing techniques, when medically appropriate. For instance, depending on your condition, you may be recommended for whole-exome sequencing to identify genetic variants.

Testing usually requires a blood sample — or in some cases a sample of hair, skin or other tissue. The samples are sent to a lab for analysis. Later, a geneticist or genetic counselor reviews the test results with you and explains what they mean.

Learn more about genetic testing.

After your consultation with the Department of Clinical Genomics, we will provide you a detailed report about your evaluation.

June 12, 2024