Using a multidisciplinary approach, the Division of Genetic, Genomic and Metabolic Disorders at the Children’s Hospital of Michigan provides expert diagnosis, follow-up, treatment and counseling for infants, children and adults with genetic or suspected genetic disorders.   The Division is staffed by board-certified clinical geneticists, board-certified genetic counselors, specially trained nurses and nurse practitioners, dietitians, a social worker and a clinical psychologist. Faculty members are boarded in clinical genetics, biochemical genetics and molecular genetics.

In addition to providing diagnostic evaluations for individuals suspected of having a genetic condition and genetic counseling services for those identified with genetic conditions, there are numerous other programs operated by the Division of Genetic, Genomic and Metabolic Disorders.  It is home to a newborn screening long term follow-up and treatment program for individuals diagnosed with an inborn error of metabolism following a positive newborn screen.  The Children's Hospital of Michigan operates one of the few Lysosomal Storage Disease Clinics and Pediatric Enzyme Replacement Therapy (ERT) programs in Michigan treating children with lysosomal storage disorders and other genetic conditions treatable with enzyme replacement.  The Division has also developed a Fetal Alcohol Syndrome Clinic for the diagnosis and management of children affected from intrauterine alcohol exposure.   

Genetic Disorders Services

Genetic, Genomic and Metabolic Disorders

The Children’s Hospital of Michigan is one of a few sites designated by the state of Michigan to provide diagnosis and follow-up for the Cystic Fibrosis newborn screening program.  Working closely with the Division of Pulmonary Medicine, the Division provides genetic counseling services to at risk families identified through newborn screening.  It also provides genetic counseling services for families followed through the Hemophilia Clinic through a collaboration with the Division of Hematology/Oncology.  Also in collaboration with the Division of Hematology/Oncology, the Division is also the only Pediatric Cancer Genetics clinic in the state.The Division works closely with the Detroit Medical Center (DMC) University Laboratories in molecular genetics, cytogenetics and biochemical genetics. The DMC is home to a biochemical genetics laboratory designated by the state of Michigan for the laboratory diagnosis, evaluation and long term monitoring for the newborn screening program.

The Division of Genetic, Genomic and Metabolic Disorders trains numerous students, residents and fellows from programs in the Metropoitan Detroit area and around the world.  It is a clinical rotation site for students from the Wayne State University Genetic Counseling Graduate Program.  Working with Wayne State University School of Medicine, it provides training and education for the combined Pediatric/Genetics Residency Program, the Medical Genetics Fellowship Program and is one of the few sites in the country offering a Medical Biochemical Genetics Fellowship program.

For further information or to schedule an appointment call (313) 745-KIDS or toll-free at (888) 362-2500.

Genetic Conditions & Treatments

The Division of Genetic, Genomic and Metabolic Disorders at the Children’s Hospital of Michigan evaluates infants, children and adults for diagnosis, genetic counseling and clinical management for a variety of reasons including but not limited to:
  • Developmental delay and/or mental retardation; autism
  • Inborn errors of metabolism
  • Lysosomal storage disorders
  • Skeletal dysplasias including Achondroplasia, Osteogenesis Imperfecta and others
  • Family history of genetic disorders
  • Known or suspected chromosomal disorders
    • Down syndrome
    • Turner syndrome
    • Trisomy 13 and 18
  • Single Gene Disorders
    • Autosomal dominant conditions
    • Autosomal recessive conditions
    • X-linked recessive conditions
    • X-linked dominant conditions
  • Birth defects
  • Fetal Alcohol Syndrome

Read our Genetic Disorder Testimonials

LaDiamond's Sickle Cell Story

Jun 6, 2019

Children's Hospital Doctor commits to giving 9-year-old normal life with Sickle Cell disease

It all started when young LaDiamond Ewing began having headaches. Her mother, Michelle Ewing, knew something was wrong. She took LaDiamond to Children’s Hospital to see Wanda Whitten-Shurney, M.D., attending pediatrician and director of the newborn screening program for sickle cell disease at Children’s Hospital of Michigan.

Dr. Shurney ordered an MRI and an MRA (an X-ray that examines blood vessels). The images revealed narrowed blood vessels in LaDiamond’s brain — one of many complications of sickle cell disease — and a condition that put LaDiamond at risk for stroke. Fortunately, Dr. Shurney and her team had quickly made the diagnosis and were able to deliver treatment that would prevent a stroke from happening.

“We give LaDiamond transfusions once a month,” explains Dr. Shurney. “This keeps the amount of her sickle hemoglobin at a manageable level, making it far less likely a blockage in the blood vessels will occur.”

Not all children with sickle cell disease receive transfusions. In fact, out of about 700 patients with sickle cell disease at Children’s Hospital, only 30 receive transfusions on a regular basis. “The clinical course is very variable. Every child is different,” Dr. Shurney points out. “Different patients have different problems; some patients have a more severe disease course than others.” One thing that is true for all patients is the fact that sickle cell is a lifelong disease. Dr. Shurney works hard to ensure her patients understand the disease early on. “When I talk to children about sickle cell disease, I tell them it is a disease of your red blood cells,” she says. “I show them pictures of red blood cells and explain how these cells deliver oxygen to all the different parts of your body. When you have sickle cell disease, some of your red blood cells are shaped like a farmer’s sickle. Many children don’t know what a sickle is, so I also have a picture of a banana, which is a similar shape.”

Dr. Shurney then explains the two main problems of having these crescent-shaped cells. One problem is the sickle cells sometimes cause blockage in the blood vessels. In addition, sickle red blood cells don’t last as long as normal red blood cells. Most of the health problems of sickle cell disease — such as pain, fatigue, and even stroke — can be explained by those two facts.

Dr. Shurney is committed to the treatment of sickle cell disease for many reasons. For one, she loves children. She also seeks to carry on the legacy of her father, Charles F. Whitten, M.D. who started the sickle cell clinic at Children’s Hospital in conjunction with Wayne State University over 30 years ago. “This is just a remarkable place,” says Dr. Shurney. “Everyone here is so committed. Beverly, the receptionist, has been with us for 31 years. Carmen, the phlebotomist who collects blood from our patients, has been here over 26 years. She’s everyone’s favorite person because she eases them through their fears and scary periods. Ingrid Sarnaik, M.D., a pediatric hematologist, is the director of the clinic and has been taking care of children with sickle cell disease for over 25 years.”

Michelle Ewing, LaDiamond’s mother, concurs. While transfusions will always be a part of LaDiamond’s life, her treatment at Children’s Hospital of Michigan is enabling her to live a normal, productive life. She can swim, dance, jump rope and ride her bike like any other 9-year-old child.

“They really work with you at Children’s Hospital, and they treat you with kindness,” Michelle says. “The people are just great about dealing with parental concerns. LaDiamond loved it when clowns and a man with a friendly dog visited her when she was very sick. And when I stayed by her side over night, they brought me food, they gave me blankets and they showed me where I could take a shower in the morning. LaDiamond and I love Dr. Shurney as much as we love my sister or my mother. We love this whole hospital. I wouldn’t change it for the world. And I certainly wouldn’t take LaDiamond anywhere else.”