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Genetic Referral

An Overview

The term "referral" can mean both the act of sending you to another doctor or therapist, and to the actual paperwork authorizing your visit. Sometimes a referral can be doctor initiated, meaning that your or your child’s doctor may suspect a genetic condition but wants to refer your family to a geneticist for further testing to rule in or rule out the condition. A referral may also be family or parent initiated, when a parent or guardian suspects something may be genetic and asks their doctor for a referral to a geneticist. Either way, most geneticists ask that there be some type of physician referral before their clinic will schedule an appointment with you. If you are unclear what the referral process is for a genetics clinic, it is best to call and ask or consult their website for their process as each clinic may vary from the next.

If you or a family member is concerned about a genetic condition, a genetic professional can help.


What You Need to Know

A geneticist is a doctor who studies genes and heredity.

  • How genes work
  • Where specific genes are located
  • How genes contribute to disease
  • How diseases run in families
  • How we can test for genes that might be harmful and cause disease because they are not functioning the way that they should

Geneticists play an important role in the diagnosis and management of a genetic disorder. They also give information to patients and family members about genetic conditions.

In general, geneticists focus on research or seeing patients. Some geneticists do both. A geneticist who meets with patients to evaluate, diagnose, and manage genetic disorders is a doctor with special training in genetics, also called a clinical geneticist.

  1. Meet with and examine patients
  2. Order appropriate genetic tests
  3. Diagnose and help manage genetic conditions
  4. Figure out a family’s risk for genetic conditions

A clinical geneticist can refer you to other medical specialties, if needed. The American Board of Medical Genetics (ABMG) certifies doctors in genetics.

On the other hand, research geneticists focus on research. They perform experiments to learn more about our genes. Then, they think about their results and what they can teach us about genes and disease. Research geneticists also may study the use of genetic technologies. A research geneticist studies:

  1. Causes of disease
  2. How to prevent and treat genetic disease

When you meet with a genetic counselor, he or she will take your personal and family health history to help better understand your risk for having a genetic condition.

Overall, a genetic counselor can help you and your family make informed decisions. A genetic counselor also can educate people caring for you, including your family and doctors. The National Society of Genetic Counselors created the following short video to explain the role of a genetic counselor and how they can help you and your family.

Prenatal genetic counselors work with couples who are thinking about having a child or couples who are already expecting a child. They work with families to assess a baby's risk for having a genetic condition.

Pediatric genetic counselors work with children and their families. Usually these children have:

  • A known or suspected genetic condition
  • A birth defect
  • An abnormal newborn screening result
  • A physical or developmental delay


Genetic counselors also work with adults to understand their risks for certain health conditions.

Learn More

Here’s a list of trusted resources that you can use to help you plan for your genetics appointment.

  • Find a Genetics Clinic through ACMG.
  • Learn more about insurance coverage and reimbursement for genetic services at MedlinePlus.
  • Get more information about getting a genetic consultation at MedlinePlus.
Remember, that you’re not alone.

Read family stories at Baby’s First Test.

Learn More

Family History

Family health history is information about diseases that run in your family, as well as the eating habits, activities, and environments that your family shares. Knowing about the diseases that run in your family can help you make healthy choices.

Referral to Genetics

The term "referral" can mean both the act of sending you to another doctor or therapist, and to the actual paperwork authorizing your visit.


A screening test is performed as a preventative measure – to detect a potential health problem or disease in someone that doesn’t yet have signs or symptoms.

A Genetic Diagnosis

Families may feel a range of emotions after the diagnosis of a genetic condition. You may feel afraid of what is going to happen next. Or, you may have a sense of relief from learning what the cause of a medical problem is.


The National Genetics Education and Family Support Center (Family Center) provides tools and resources to support family engagement and genetic services.

Contact info

4301 Connecticut Ave NW Suite 404 Washington, DC 20008-2369

[email protected]