Increasing Primary Care Provider-Initiated Geneticist Referrals in 22q11.2 Deletion Syndrome

  • B. Bavette Miller Oklahoma State University Center for Health Sciences
Keywords: 22q, 22q Deletion Syndrome, DiGeorge Syndrome, Genetic Deletion, Physician Education, Geneticist Referral, Primary Care Education, Continuing Medical Education, Velofacial Cardiac Syndrome


A 22q11.2 Deletion Syndrome (22q) diagnosis is relevant at any given time. With the barriers and quality of life concerns, it is important that a timely and accurate diagnosis is made. In order for this to occur, primary care providers should have the knowledge to properly assess the presenting abnormalities that may be found in a patient. Without a recognizable anomaly such as a heart disorder or palate deficiencies, individuals affected with 22q could live years without answers to critical health conditions. The lack of this diagnosis may cause additional medical conditions, even premature death. The purpose of this study was to measure primary care provider knowledge on 22q. Next, it was to examine the effect of education on the number of primary care initiated referrals when two or more known 22q anomalies are present. Many medical conditions associated with 22q are complex and complicated. Primary care providers in this research is defined as those physicians, medical residents, medical students, and other healthcare providers who attended the annual 2016 family practice spring conference in Tulsa, OK.


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