General Adult Genetics

The Department of Molecular and Medical Genetics at OHSU provides outpatient genetic evaluation and counseling for adult patients (18 years of age and older) and their families with known or suspected genetic conditions.  Genetic conditions that are commonly diagnosed in adulthood include connective tissue disorders, hereditary ataxia, polycystic kidney disease, and other inherited disorders.  This clinic is staffed by board certified medical geneticists and board certified genetic counselors.

Patients with a variety of known or suspected genetic conditions may be referred for evaluation.  Genetics of the condition will be reviewed, management recommendations will be provided, and the risk to other family members will be discussed.  When appropriate, diagnostic testing will be arranged.  The goal of the adult genetics program is to communicate with the patient’s primary care provider to provide coordinated health care services.  The adult genetics program serves as a critical link in efficient patient management by providing clinical evaluation and test interpretation to the patient and the primary care provider.

Your appointment- what to expect

  • In depth discussion with Geneticist and Genetic Counselor
  • Review of personal medical history
    • Results of any genetic testing
  • Detailed family history (Bring your completed Family History Questionnaire)
    • Results of genetic testing of your family members
  • Limited physical exam
  • Review of the condition and inheritance pattern
  • Personalized risk assessment/management recommendations
  • Outline of genetic testing options available
    • Implications for medical management and family members
  • Coordination for Genetic testing if appropriate
    • Review of genetic testing insurance coverage process
    • In somecases, blood may be drawn the same day

Cardiovascular Disorders:

  • Marfan syndrome     
  • Loeys Dietz syndrome
  • vascular EDS
  • bicuspid aortic valve
  • thoracic aortic aneurysms

Endocrine Disorders:               

  • hypogonadotropic hypogonadism

Eye Disorders:

  • retinal dystrophy
  • hereditary glaucoma


  • hereditary hearing loss: non syndromic and syndromic


  • chronic pancreatitis


  • hereditary Mediterranean fever
  • familial auto-inflammatory disorders
  • CVID


  • idiopathic pulmonary fibrosis


  • Cystic diseases of kidney
  • Alport syndrome
  • disorder w/wo dysmorphic features

Other problems:

  • Patients with a known genetic condition as they transition to adulthood
  • Family history of genetic disorder or syndrome
  • Additional diagnosis with medical review
  • Suspicion for multisystem genetic disease