afib twins
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
  • Hypotonia/hypertonia
  • 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
  • Overgrowth
  • 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.

    Health Beat

    • sarah ripley and her mother

      Asking the Tough Questions

      After her brother dies of Duchenne muscular dystrophy, a woman ponders whether to get genetic testing.