Individuals are often referred to see a geneticist or a genetic counselor because they have a personal or family history of a specific health or developmental issue that may be caused by an underlying genetic condition. Some of the more common reasons for referral include:
- Family history of a genetic condition
- Known/suspected genetic conditions including Down syndrome, Noonan syndrome, Turner syndrome, neurofibromatosis, cystic fibrosis
- Autism spectrum disorders
- Intellectual disability/developmental delays
- Cardiovascular disease, including congenital heart defects, cardiomyopathy, long QT syndrome, arrhythmias
- Muscular dystrophies, including myotonic dystrophy, Duchenne muscular dystrophy, limb-girdle muscular dystrophy
- Neurologic conditions such as Charcot-Marie-Tooth, spinocerebellar ataxias, spinomuscular atrophy
- Skeletal dysplasias, such as achondroplasia and osteogenesis imperfecta
- Short stature or growth restriction
- Single/multiple congenital anomalies
- Dysmorphic features
- Congenital hearing loss
- Fetal alcohol syndrome disorders
- Preconception counseling
Laurie H. Seaver, MD, discusses the role of a medical geneticist and why one might seek genetic counseling.
What to Expect
- Talk with family members to find out if anyone has had learning difficulties, birth defects, multiple pregnancy losses or other health concerns. If a family member has a genetic diagnosis or has had genetic testing, try to obtain a copy of their results or documentation of their diagnosis.
- Check with your insurance company to find out if services are covered.
- Plan to be at the visit for approximately an hour and a half.
- Depending on the reason for your visit, you may meet with a genetic counselor or geneticist, or you may meet with both.
- Expect to discuss your medical history and details about your family’s medical history.
- A physical exam is performed in most cases.
- Any important findings from the appointment will be discussed and options for genetic testing will be explained.
- Genetic testing, if needed, will be explained in detail, so that patients and families can make an informed choice about whether to proceed with testing. Genetic testing is always optional.
- Genetic testing is typically performed on a blood sample. Fasting is not required prior to the blood draw.
- Genetic testing is not always pursued the day of the appointment. We will attempt to obtain insurance authorization or determine coverage before any testing is undertaken.
After her brother dies of Duchenne muscular dystrophy, a woman ponders whether to get genetic testing.