Genetics 101: What to expect from the Genetics and Genomics Program

Genes are the blueprint of all living things — our DNA determines the color of our hair, eyes and skin, our height and how big our ears are. Changes in our DNA can also be the underlying cause of some diseases. That’s where the Genetics and Genomics Program at Children’s Wisconsin comes into play. 

Approximately 6,000 different diseases are caused by variation in a single gene. To help identify and treat these often rare disorders, you need specialized training. The Genetics and Genomics Program at Children’s Wisconsin is a leading genetics program in Wisconsin and offers specialized services to help diagnose and treat genetic conditions.

If your child is referred to the Children’s Wisconsin Genetics and Genomics Program, below is some helpful information to prepare you for the visit.

Who will you meet in the clinic?

The Genetics Clinic at Children’s Wisconsin is made up of a team of geneticists, genetic counselors, nurse practitioners, a physician assistant, nurse clinicians, dietitians and research coordinators. Who you see during a visit will depend on your child’s clinical concerns. In the general Genetics Clinic, all new patients will see either a geneticist, a nurse practitioner or physician assistant, and a genetic counselor. We take a team-based approach for each patient and are in constant communication with each other to develop an individualized plan of care.

What is a geneticist?

Geneticists are medical doctors who are trained to identify and treat genetic disorders. A geneticist has training that typically includes four years of medical school, three years of residency training, and at least two years of additional specialty training in medical genetics. They can see children from birth to adolescence and sometimes through adulthood.

What is a genetic counselor?

Genetic counselors are non-physician health care providers with a master's degree who have the scientific background to help others understand the implications of a genetic disease. During an appointment, they may collect and interpret family history, educate about inheritance and testing, and provide counseling to help promote informed decision making and support to families with established diagnoses.

What happens in our clinic?

At the start of your first visit, you will be asked questions about your child’s history, including information about the pregnancy and delivery, development and schooling/learning concerns. We will also conduct a detailed examination of your child, assessing their health from head to toe. In addition, the genetic counselor will ask questions about the family history and will draw it out in something called a pedigree or family tree.

After the information is collected, the geneticist or nurse practitioner will perform a physical exam, which may involve measurements and pictures. Any pictures taken are for the purpose of medical evaluation only and will stay in your child’s chart. We sometimes use pictures in a diagnostic application called Face2Gene, which can help us recognize certain patterns based on facial features.

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At the end of the visit, the providers come together to determine a plan of care, which may involve laboratory tests, genetic tests, referrals to other specialties or therapies. For most genetic tests, prior authorization through insurance is required, so a blood draw may not always be performed the day of the visit.

Some patients we see may receive a diagnosis and education about the disorder that day. Others may not receive a diagnosis immediately, as we may need to pursue testing to confirm or rule out a genetic condition. Not everyone who comes to the clinic will get genetic testing. Sometimes we may recommend laboratory testing or imaging before ordering genetic testing.

What happens after your appointment?

If genetic testing is needed, the genetic counselor will send for prior authorization to insurance and testing will be coordinated once it is approved. Due to the nature of genetic testing, it may take weeks or even months to get results back. When results are ready, you will be called.

After the appointment, patients can call the nurse line or use MyChart to ask any questions. Annual follow-up visits are often recommended, during which the patient’s history is reviewed, new literature or updates on a diagnosis is discussed, and/or new testing and management recommendations are reviewed.

What types of clinics do we have?

Within the clinic, we see patients for a variety of conditions. In the general Genetics Clinic, we take an in-depth look at each patient to see if there is an underlying genetic cause to their condition or symptoms. A few of the conditions we commonly see in general Genetics Clinic include developmental delays, autism, epilepsy, or physical disorders such as heart defects or cleft palate.

We also have a variety of specialty clinics including the Metabolic Clinic, Neurofibromatosis/RASopathy Clinic, Hereditary Connective Tissue Disorders Clinic, and Genomic Medicine Clinic. In addition, we are involved in several multidisciplinary clinics and collaborative clinics with other specialties including the cardiogenetics, neurogenetics, neuromuscular, sickle cell and cleft lip and palate.

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The clinic also participates in a number of clinical trials and eligible patients have the opportunity to be enrolled in a variety of studies.

How can you be seen in Genetics?

Most of the patients seen in the Genetics Clinic are referred by either their primary care provider or another specialty provider. While self-referrals are accepted, we may need to request additional information or medical records prior to scheduling. All referrals to the Genetics Clinic are reviewed prior to being placed on the scheduling list. Not all individuals referred to the genetics department will need an appointment. After the referral is reviewed and an appointment deemed necessary, either the front desk staff or an individual from central scheduling will reach out to the family to schedule. 

For additional information, please visit the Genetics and Genomics Program page on our website or call (414) 266-3347.

Brittany Hoyle, PAC Physician Assistant Genetics and Genomics Program

Children's Wisconsin specialty care providers have advanced training and expertise in many areas of pediatric medical care, including allergies, dental, dermatology, emergency medicine, ENT, gastroenterology, neonatology, pulmonology, surgery and more.