Wendy K. Chung1, Faranak F. Herrera2, Simon's Searchlight Foundation3 1Harvard Medical School and Boston Children's Hospital, Boston, Massachusetts 02115, USA; 216p Genetic Foundation, Irvine, California 92603, USA; 3New York, New York 10010, USA Corresponding author: herreraffgmail.com Abstract

Rare genetic conditions are challenging for the primary care provider to manage without proper guidelines. This clinical review is designed to assist the pediatrician, family physician, or internist in the primary care setting to manage the complexities of 16p11.2 deletion syndrome. A multidisciplinary medical home with the primary care provider leading the care and armed with up-to-date guidelines will prove most helpful to the rare genetic patient population. A special focus on technology to fill gaps in deficits, review of case studies on novel medical treatments, and involvement with the educational system for advocacy with an emphasis on celebrating diversity will serve the rare genetic syndrome population well.

Received September 5, 2023. Accepted November 28, 2023.

This article is distributed under the terms of the Creative Commons Attribution License, which permits unrestricted reuse and redistribution provided that the original author and source are credited.