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Clinical Care

IU School of Medicine board-certified geneticists and genetic counselors serve more than 2000 individuals and families each year. The Department of Medical and Molecular Genetics faculty physicians offer genetic consultation and/or genetic counseling for a variety of hereditary conditions and birth defects.

The general genetics clinics provide genetic consultation and counseling for all genetic and potentially genetic conditions. Individuals who wish to schedule an appointment in one of the department’s clinics should have a primary care physician contact the office at 317-944-3966 to make appropriate referrals and to send medical records.

General Genetics Clinics

Medical Genetics Clinic, Riley Hospital for Children
Adult Genetics Clinic, Indiana University Hospital
Genetic Counseling Clinic, Medical Library Building

Bloomington Genetics Clinic, Bloomington Hospital
Madison Genetics Clinic, King’s Daughters’ Hospital (812-265-0215)
Terre Haute Genetics Clinic, IU Genetics Clinic (317-274-3966)

Specialty Clinics

The Adult Cardiovascular Genetic Counseling Clinic provides comprehensive pre-test and post-test genetic counseling services for primarily adults who have a diagnosis of, or are at-risk for developing, inherited cardiovascular disease. Locations include Methodist Hospital (IUHP Cardiology Clinic), Methodist Hospital (Advanced Heart and Lung Care Clinic), and Eskenazi Hospital (Special Medicine Cardiology Clinic). Depending on the specific clinic location and needs of the family, patients are seen either by the genetic counselor only or in conjunction with other clinicians in the cardiovascular genetics care team. The specific cardiologists and other clinicians involved depend on the specific location of the clinic and the diagnosis. Most patients seen in this clinic are being evaluated for non-syndromic arrhythmia or cardiomyopathy, pulmonary arterial hypertension, and/or as part of a sports cardiology evaluation. The cardiologist and genetic counselor collaborate to provide diagnoses, management, family screening recommendations, appropriate genetic testing, and genetic counseling to patients and their relatives.

Adult Metabolism Clinic at IU Health University Hospital specializes in the care of patients and families diagnosed with inborn errors of metabolism who are over 18 years of age. For example, patients with newborn screening conditions (PKU, galactosemia, organic acidurias, etc.), lysosomal storage disorders, urea cycle disorders, and Prader-Willi syndrome may all be seen by our team. Many of these individuals have been followed in the pediatric clinic for years and have been transitioned to this clinic with age. Additionally, patients with acquired metabolic concerns (such as hyperammonemia due to liver disease, gastroparesis) identified by in-patient consults or physician referrals may also be seen for evaluations and follow-up. Faculty at this clinic evaluate the appropriateness of new referrals and accept patients on a case by case basis. Geneticists, genetic counselors, dietitians, nurse case managers, and social workers work together in this multidisciplinary clinic to provide diagnosis, management and outside resources for patients and families with metabolic conditions.

The Advanced Lipid Clinic at Methodist Hospital specializes in the care of adult patients with complex hyperlipidemia and/or diagnosis of familial hypercholesterolemia. Patients seen in this clinic are evaluated by a cardiologist, pharmacist and genetic counselor as needed. Together, this multidisciplinary team serves to provide diagnosis, management, genetic testing and family screening recommendations for patients and families with hyperlipidemia and/or familial hypercholesterolemia.

The Bone Dysplasia Clinic at Riley Hospital for Children accepts both pediatric and adult patients who are referred for evaluation of a possible underlying skeletal dysplasia. Common referrals include short stature, osteopenia and/or multiple fractures, and skeletal abnormalities. Some of the more common conditions evaluated for in this clinic include osteogenesis imperfecta, multiple epiphyseal dysplasias, metaphyseal dysplasias, achondroplasia and hypochondroplasia. Genetic counselors, genetics fellows, genetic counseling students, and/or rotating medical students/pediatrics residents work closely with the clinical geneticists to determine a differential diagnosis, coordinate genetic testing and provide follow-up recommendations.

Located at Riley Hospital for Children in Indianapolis, the pediatric cardiomyopathy clinic specializes in the care of patients and families diagnosed with or at risk for developing all types of cardiomyopathy (hypertrophic, dilated, restrictive, arryhthmogenic right ventricular cardiomyopathy, left ventricular non-compaction). Additionally, families with a history of sudden cardiac death possibly related to an inherited cardiomyopathy may be seen in this clinic. Patients may have isolated cardiomyopathy or cardiomyopathy as part of a genetic condition (Duchenne muscular dystrophy, Noonan syndrome, etc). Cardiologists, geneticists, and genetic counselors work together in this multidisciplinary clinic to provide diagnosis, management and family screening recommendations for patients and families with cardiomyopathy.

The Cardiovascular Genetics Clinic at Riley Hospital for Children serves both pediatric and adult populations who have been diagnosed with or at risk for developing inherited cardiovascular disease. Conditions evaluated in this clinic include non-syndromic and syndromic congenital heart disease, familial thoracic aortic aneurysm and dissection, Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, Noonan syndrome, Williams syndrome, Turner syndrome, 22q11.2 deletion syndrome, and many others. Cardiologists, Geneticists and Genetic Counselors work together in close collaboration to provide diagnosis, management and family screening recommendations for both non-syndromic and syndromic cardiovascular disease.

The Indiana Familial Cancer Clinic at University Hospital and IU Health North Hospital provides genetic evaluation for individuals with a personal and/or family history of cancer; genetic evaluation for individuals with a personal and/or family history of gastrointestinal polyposis; genetic counseling for individuals identified with germline mutation associated with cancer susceptibility; and coordination of genetic testing for cancer susceptibility—for pediatric and adult populations. Our genetic providers also participate in the adult and pediatric precision cancer genomic clinics, breast prevention clinic, and the hereditary renal cancer clinic.

The Medical Genetics Clinics at Riley Hospital for Children accept both pediatric and adult patients who are referred for evaluation of a possible underlying genetic condition. Common referrals to the Medical Genetics Clinics include developmental delay/intellectual disability, multiple congenital anomalies, chromosome abnormalities, connective tissue disorders, fragile X syndrome, short stature/failure to thrive, dysmorphic features, autism spectrum disorder, fetal alcohol syndrome, family history of a genetic condition, and hearing loss. Genetic counselors, genetics fellows, genetic counseling students, and/or rotating medical students/pediatrics residents work closely with the clinical geneticists to determine a differential diagnosis, coordinate genetic testing and provide follow-up recommendations.

The locations of the Outreach Clinics include IU Health Southern Indiana Physicians in Bloomington (three times per year), Landsbaum Center for Health Education in Terre Haute (four times per year), and King’s Daughters’ Health Outpatient Center in Madison (four times per year).

The Neurogenetics Clinic at Riley Hospital for Children accepts both pediatric and adult patients who are referred for evaluation of a possible underlying neurogenetic condition, but the clinic mostly treats children. Common referrals include brain malformations, seizures, hypotonia, muscular weakness, dystonia and cognitive delays. Some of the more common conditions evaluated for in this clinic include a variety of inherited seizure disorders, septo-optic dysplasia, mitochondrial disorders and muscular dystrophy. During the visit, medical and family history is obtained, and the neurogeneticist performs detailed neurology and dysmorphology exams in order to determine a differential diagnosis. Recommendations for testing and follow up are discussed with the patient, and appropriate genetic testing, lab work or imaging and specialty referrals are coordinated following the visit.

Located at Riley Hospital for Children in Indianapolis, the pediatric cardiomyopathy clinic specializes in the care of patients and families diagnosed with or at risk for developing all types of cardiomyopathy (hypertrophic, dilated, restrictive, arryhthmogenic right ventricular cardiomyopathy, left ventricular non-compaction). Additionally, families with a history of sudden cardiac death possibly related to an inherited cardiomyopathy may be seen in this clinic. Patients may have isolated cardiomyopathy or cardiomyopathy as part of a genetic condition (Duchenne muscular dystrophy, Noonan syndrome, etc). Cardiologists, geneticists, and genetic counselors work together in this multidisciplinary clinic to provide diagnosis, management and family screening recommendations for patients and families with cardiomyopathy.

Pediatric Metabolism Clinic at Riley Hospital for Children specializes in the care of patients and families diagnosed with inborn errors of metabolism. For example, patients with newborn screening conditions (PKU, galactosemia, organic acidurias, etc.), lysosomal storage disorders, urea cycle disorders, and Prader-Willi syndrome may all be seen by our team. Additionally, patients with acquired metabolic concerns (such as hyperammonemia due to chemotherapy, exercise-induced rhabdomyolysis) identified by in-patient consults or physician referrals may also be seen for evaluations and follow-up. Geneticists, genetic counselors, dietitians, nurse case managers, and social workers work together in this multidisciplinary clinic to provide diagnosis, management, and outside resources for patients and families with metabolic conditions.

Pediatric pulmonary hypertension clinic at Riley Hospital for Children specializes in the care of pediatric and young adult patients with pulmonary hypertension. Patients may have idiopathic or familial pulmonary hypertension or may have an underlying primary diagnosis that causes their pulmonary hypertension (congenital heart disease, lung disease of prematurity, underlying genetic syndrome, etc.) A core team of a cardiologist, pulmonologist, genetic counselor and nurse coordinator work together in this multidisciplinary clinic to provide diagnosis, management and family screening recommendations for patients and families with pulmonary hypertension.

Clinical Labs

The IU School of Medicine Genetics Laboratories are a national clinical reference laboratory and worldwide leader in innovative laboratory research and development. These facilities offer an extensive menu of highly complex and unique medical tests.