This course is intended for PAs in primary care who want to learn more about selected common genetic disorders. Marfan syndrome, neurofibromatosis type I, Klinefelter syndrome, Turner syndrome, and familial hypercholesterolemia will be discussed in detail. Inheritance pattern, genetic etiology, frequency, genetic testing, common findings, appropriate referrals, and management will be reviewed for each disorder. Guidelines for each disorder will be provided. Resources will also be provided including how to locate a genetics professional and appropriate genetics websites to utilize.

Learning Objectives

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

• Examine the genetic etiology of common genetic disorders seen in primary care
  
• Discuss frequency, common findings, and management of common genetic disorders
  
• Recognize the distinctive features associated with these disorders