Beaumont Children's offers pediatric genetic
evaluation and counseling to both children and adults who either have
or may have a genetic condition. Common reasons for referral include
having one or more of the following:
- developmental delays, including autism/autistic spectrum disorder or cognitive impairment
- a suspected genetic condition based on either personal medical history and/or family history
- a known chromosomal abnormality
- one or more major birth defect(s)
- more than one minor physical variation
- other known genetic conditions
Pediatric Genetic Counseling
Pediatric genetic counseling is the process of helping people
understand and adapt to the medical, psychological and familial
implications of genetic contributions to disease. The process includes:
- collecting and interpreting family and medical histories to assess the chance of genetic disease
- educating about inherited conditions
- testing for, managing and preventing genetic diseases
- researching various conditions
- counseling to promote informed choices
Pediatric genetic counselors are health care professionals
with specialized graduate degrees and have experience in the areas of
medical genetics and counseling. They work with other members of the
health care team to inform and support individuals and families
concerned with genetic disorders or birth defects or those at risk for a
variety of inherited conditions.
Pediatric Genetic Evaluation
At Beaumont Children's Genetics Clinic, patients and
families see a genetic counselor and a clinical geneticist (a medical
doctor who specializes in genetics). During the initial appointment,
personal and family medical histories are obtained, a physical
examination is usually performed, and recommendations for testing and
medical management are discussed.
If tests or other evaluations have already been done, it is often
helpful to have these records available to us; the family may either
bring the records to the visit or have the records forwarded to us
before the appointment. Visits generally last 80 minutes.