Genetics

Department Physicians

• Laura Davis-Keppen, MD
• H. Eugene Hoyme, MD
• Quinn Stein, MS, CGC
• Amy Woltanski, MS

The Genetics Clinic at Sanford Children’s Specialty Clinic specializes in evaluation of genetic disease, recommendations for treatment, and health care management of children and adults with genetic disorders using an education-centered, team-based approach. Geneticists Laura Davis-Keppen, MD and H. Eugene Hoyme, MD work together with experienced nurses, social workers, dieticians, and genetic counselors Quinn Stein, MS, CGC and Amy Woltanski, MS to ensure patients receive the highest standard of care.

Although being told you may have a genetic disorder can be frightening and confusing, the geneticists at Sanford Children’s have decades of experience working with children and families in the same position. They, along with the other health care providers in the clinic, are trained to explain complex medical information clearly and to be an emotional resource, helping families cope with the situations they face. The geneticists and genetic counselors provide up-to-date, accurate information and discuss the chance for a genetic disorder in a person or family. They will help you understand the details of a genetic disorder, risks to family members, chances of it happening again, available testing, and management. The genetics team at Sanford Children's also has direct access to the state's only cytogenetics laboratory, Sanford Clinic USD Genetics Laboratory, located on the Sanford USD Medical Center Campus.

A visit to the Genetics Clinic commonly includes:

• discussion of the reason for referral
• collection of detailed family history and personal medical history
• explanation of any risk factors identified in the history
• clinical exam to look for subtle signs of a genetic disorder
• explanation of possible diagnosis
• discussion of any available genetic tests including the risks, benefits, and
• limitations of each test
• support of patients’ decisions about available tests, treatment options, or management options
• resources and educational material as needed
• referral to support groups or other medical specialists when necessary

People who might benefit from genetic services include individuals with:

• couples whose infant has a genetic disease diagnosed by routine newborn screening
• Delayed growth and psychomotor development
• Abnormal or unusual physical features
• Congenital anomalies, major or minor
• Abnormal sexual development
• Seizures or neurological dysfunction
• Metabolic disorders
• Muscular weakness
• Bleeding tendencies
• Blindness or deafness
• Chromosome abnormalities