Medical & Molecular Genetics

Gaining Insight Into Your Family’s Health History

The Medical & Molecular Genetics Department at Riley at IU Health offers information, genetic counseling, genetic testing, treatment and referral services for individuals or families touched by inherited conditions or chromosomal disorders.

Our goal is to help families understand the genetic conditions that affect them and provide treatment options. We provide genetic counseling for a variety of hereditary conditions and birth defects and collaborate with doctors throughout the Indiana University Health system to offer the most advanced treatment options.

Clinical Genetics

Clinical genetics is a medical specialty that provides genetic counseling and genetic testing services to individuals and families. The clinical genetics specialists at Riley at IU Health provide consultation for a variety of hereditary conditions and birth defects.

Our genetic counselors are specially trained in genetics, statistics and counseling. They can provide in-depth yet understandable explanations of complex genetic information. They are knowledgeable about all forms of genetic testing and can discuss the risks, advantages and limitations of each type of testing.

Genetic counselors do not pressure a patient or family to have testing or take any particular course of action. Their goal is to arm patients and families with the information they need to make healthcare decisions. If a diagnosis is confirmed, they help families understand how a diagnosis was reached, the medical prognosis and the available treatment options.

Because families may face uncertainty or struggle with the emotional impact of an unwelcome diagnosis or risk assessment, our genetic counselors offer supportive counseling, make referrals to specialists and suggest community resources for further help.

Biochemical Genetics

Biochemical genetics is a subspecialty of clinical genetics that focuses on inborn errors of metabolism (IEM)—or metabolic disorders. Metabolic disorders are characterized by the inability to appropriately utilize fat, carbohydrates or protein in the foods we eat.

Riley at IU Health is the largest medical center in Indiana that treats children and adults with metabolic disorders. Our team of experts includes board certified medical geneticists, two dietitians with specialized training in metabolism, a genetic counselor, a social worker and a team of highly skilled nurses. Through our continuing education and research in urea cycle defects and phenylketonuria (PKU), among other disorders, we offer our patients the latest in medical treatment.

While metabolic conditions cannot be cured, they can often be managed effectively with diet and/or medicines. Treatment is often life-long and, as such, we follow patients from diagnosis (which frequently occurs in infancy) through adulthood.

NORD Center of Excellence

Riley Children’s Health is recognized as National Organization of Rare Diseases (NORD) Center of Excellence. Riley Children’s is the only health system in the state with this designation and is a leader in advancing care and expanding access for children with rare diseases. With the support from experts, families can navigate the challenges of rare diseases with Riley Children’s. Learn more from personal stories intended to raise awareness of rare diseases and to promote research to advance treatment and cures.