Genetics Series: The Genetics Evaluation: Who to Refer and What to Expect

This activity is intended for practicing PAs wanting to learn more about the field of medical genetics and to discuss which patients may benefit from a genetics evaluation. The goals are to help PAs 'think genetically' when evaluating a patient in clinic and have a higher index of suspicion for genetic conditions, which may prompt a referral to genetics. Potential referrals is reviewed using cognitive and physical exam findings. The intricacies of a genetics evaluation is also reviewed in order to help PAs get a better understanding, appreciation, and utility of a genetics consult. Briefly, options for genetic testing is highlighted as well as genetic counseling and consenting for genetic testing. Resources are provided including how to locate a genetics professional and appropriate genetics websites to utilize.

Learning Objectives


At the conclusion of this activity, participants should be able to:

  • Analyze 3-generation pedigrees and learn how to obtain them
  • Identify resources which can assist PAs with obtaining a targeted family history for possible genetic causes of disease
  • Describe patient motivations and concerns regarding genetic/genomic testing
  • Review common presentations in primary care/specialty offices of disorders with genetic underpinnings

RELATED ACTIVITIES
Genetic Series
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