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Genetics 
 
 

 

Welcome to the Pediatric Genetics Department at SSM Cardinal Glennon Children's Medical Center.

 

The Medical Genetics Department at SSM Cardinal Glennon Children’s Medical Center provides comprehensive clinical genetic services including evaluation, diagnosis, treatment, and genetic counseling.  Genetic services are provided to individuals of all ages and their families.

   

 Common Conditions

 After Your Visit

 Our Services

 Additional Resources

 Before Your Visit

 Meet the Team

 During Your Visit

 Contact Us

Common Conditions

 

The Medical Genetics team is comprised of medical geneticists (physicians), genetic counselors, a clinical genetics nurse and a registered dietician.  Together they provide education and assist families with the management of genetic and congenital disorders.  These conditions include:

      Birth defects

      Mental retardation

      Developmental delay/learning disability

      Multisystem medical problems

      Abnormalities identified by newborn screening

      Metabolic conditions

      Chromosome abnormalities

      Recognized genetic syndromes

      Familial cancer

Patients are generally referred for a genetic evaluation or genetic counseling by their primary care physicians or other specialists.  On occasion, individuals may self refer.

Our Services

Outpatient services are available in Cardinal Glennon's General Medical Genetics Clinic and Metabolic Genetics Clinic.  In addition, we are involved in multispecialty clinics, including Neurofibromatosis and Cleft Lip and Palate. 

Services are also provided through Genetics Outreach Clinics at four locations in Illinois:  Wood River, IL (Madison County); Mount Vernon, IL (Jefferson County); Murphysboro, IL (Jackson County); and Vandalia, IL (Fayette County). 

      Cancer genetic counseling: Cardinal Glennon and
          SSM St. Mary’s Health Center.

      Prenatal genetic counseling: Fetal Evaluation and Treatment
          Unit at the SSM St. Mary’s Health Center.

      Inpatient genetic consultations: Cardinal Glennon and
          SSM St. Mary’s Health Center.

Before Your Visit

Once patients are referred for a genetic evaluation or genetic counseling, a medical genetics intake form is mailed to be completed and returned prior to scheduling an appointment.  This form asks about the patient’s prenatal (pregnancy) history, medical history, developmental/academic history, and extended family history.  Patients and/or parents are asked to sign consent for the release of medical records, so that appropriate medical records can be obtained prior to the appointment. 

During Your Visit

If at all possible, we encourage both parents to attend the genetics evaluation if the patient is a child.  The patient’s medical insurance card will be required to register for the appointment.  The initial genetic evaluation may last 1 to 1 ½ hours. Therefore, many parents find it helpful to bring snacks and activities for the child to the appointment. Other items that may be helpful to bring to the appointment are photographs of the patient at different ages, as well as photographs of other family members. Medical records from other evaluations are also helpful.    

Each evaluation and counseling session is different depending upon the reason a patient or family is referred.  Typically, the patient’s initial contact is with the clinical genetics nurse, who will explain what to expect during the appointment.  The genetic counselor will review the medical genetics intake form with the patient or parents, and construct a family pedigree (family tree).  The clinical geneticist (physician) will perform a thorough physical evaluation of the patient. 

Laboratory testing of blood or urine samples and/or other studies such as x-rays may be recommended.  Many of these tests can be done the same day as the appointment, whereas others will need to be scheduled for later dates or scheduled once approval has been obtained from the medical insurance provider.  In addition, referrals to other specialists (cardiologist, neurologist, early interventionalist, etc) may be recommended.    

During the visit, if a diagnosis can be made, the patient and/or family will be provided a complete explanation (genetic counseling) about the condition.  This explanation includes the potential cause of the diagnosis, other possible genetic and medical implications to the patient and family members, and recommendations for management.  If at the time of the appointment a diagnosis is not apparent, then significant findings will be reviewed with the patient and/or family.  Genetic counseling about the possible explanations and recommendations for additional testing, evaluations and management is provided.  

After Your Visit

Following a patient’s visit, a consultation note summarizing the evaluation and recommendations is sent to the referring and primary physicians.  Written information about a genetic diagnosis is given to the patient and/or parents at the time of the initial appointment whenever possible.  If a diagnosis is confirmed after the initial evaluation, written information about the genetic condition is mailed to the patient and/or parents. 

If laboratory tests, imaging studies (e.g., ultrasound), or evaluations with other specialists are recommended during the initial visit, the clinical genetics nurse or genetic counselor will assist in arranging for these tests and evaluations.  Once the results of these tests and evaluations are available, patients and/or parents will either be contacted by telephone with the results or asked to return for a follow up appointment to review the information in detail.

Contact Us

For more information or to schedule an appointment, please call (314) 577-5639.

Additional Resources

Learn about your child's health in our KidsHealth library and resource center. 

      Autism Society of America

      Child and Family Connections

      Family Village

      First Steps of Missouri

      Knights of Columbus at SLU

      March of Dimes

Meet the Team

 

Stephen Braddock, MD - Director of Pediatric Genetics

 

Gary Gottesman, MD

 

Sandra Davenport, MD

Jacqueline Batanian, PhD

Constance (Beth) Piper, RD


Katherine Christensen, MS

Margaret Hefner, MS

Laura Waldman, MS

Melissa Fuller, MS

 

Erin Kanetzke, MS

Debby Boylan, RN, BSN 

 

 

 


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