Commonly Asked Questions

1. What is genetics?

Genetics is the study of heredity, or how things are passed down from generation to generation in a family. Genetics involves our genes, which are like the instructions for the human body. A change in one or more genes can sometimes lead to the body working differently than it usually would. Sometimes this can result in a disorder, or disease. Genetic disorders can be passed down to several family members, or they can appear for the first time in an individual with no affected family members.

2. Should I schedule a genetics appointment?

Talk to your doctor if you are interested in a genetics appointment. Common reasons to seek genetic consultation include:

• delays in development
• problems with growth or feeding
• birth defects
• hearing or vision loss
• seizures
• history of multiple miscarriages or stillbirths
• abnormal prenatal screen results
• infertility
• delayed puberty
• exposures to environmental agents during pregnancy
• family or personal history of common conditions (like breast cancer and heart disease)
• family history of any genetic condition

Having one or more of the conditions above does NOT necessarily mean that a person has a genetic condition. It simply means an appointment with genetics may be useful.

Individuals who have been diagnosed with a genetic condition but have not consulted a genetic specialist or genetic counselor are strongly encouraged to schedule an appointment.

3. What happens at a genetics appointment?

A patient’s health history and records will be reviewed. A doctor or counselor will probably ask questions about the family’s medical history. A physical exam may be done to look for symptoms of a particular genetic condition. Based on the history, and the exam, the doctor or counselor will review testing options and whether or not any tests could be helpful. A patient will be given time to ask questions and discuss their options in detail. It is possible that a diagnosis will be made and treatment possibilities will be discussed. The doctor or counselor may also make a referral to other doctors specializing in areas such as cardiology or endocrinology.

4. Who are genetics professionals?

Most of the time, patients will see a medical geneticist, a genetic counselor, or both.
A medical geneticist is a doctor who specializes in the diagnosis and treatment of people with genetic conditions. He or she is certified by the American Board of Medical Genetics and has a specialty degree in genetics. A medical geneticist has received further training in genetics after training in an area such as pediatrics, internal medicine, or obstetrics. The roles of the medical geneticist include performing medical examinations, taking and reviewing medical and family histories, ordering genetic tests when necessary, making a diagnosis when able, and discussing any findings with the patient.

A genetic counselor is a medical professional trained to help people understand and cope with the genetic aspects of a diagnosed disorder. This includes going over what can be expected medically, how a diagnosis may affect a person emotionally, and what a diagnosis will mean for the family. A genetic counselor is certified by the American Board of Genetic Counseling and has a specialty degree in genetics. During an appointment, a genetic counselor’s roles include taking a family history, reviewing tests and test results, discussing the diagnosis with the patient and/or his or her family, and allowing the patient to talk and ask questions about the situation.

5. How do I get an appointment with genetic services?

Ask your doctor about scheduling an appointment for a genetics consultation, or contact one of the centers listed in Locating Genetic Services.

6. Will insurance cover the cost of the appointment?

Medicaid (including Medical Assistance, BadgerCare, and SeniorCare) will usually cover the cost of a genetics appointment, as well as some genetic tests. Many private insurance providers will cover the costs of genetic care, but it is best to check with your provider ahead of time. Sometimes a referral from your primary care doctor will be required. More information is available in the Financing & Payment section.

7. Will my genetic information be kept private?

Yes. Anything discussed during a genetics appointment, including test results, cannot be told to anyone else without your permission, including other family members. If a genetic test is paid for by your insurance provider, those test results cannot be used to discriminate for health insurance purposes.

8. What is involved in genetic testing?

There are many different genetic tests. Right now, it is impossible to just “test for everything” and find a genetic condition. A doctor must know what to look for and the right test to order. All test options will be discussed with the patient beforehand. If a person decides to have genetic testing done, this usually involves giving a blood sample, though a sample of urine, skin, muscle or something else may be required. Genetic testing may take a few days or several weeks to be completed. The results will be discussed with the patient once they are received by the doctor or counselor.

Other questions? Contact the Statewide Genetics Coordinator at 608-267-7148.