Gretchen MacCarrick, MS

As a clinical genetic counselor in the Department of Genetic Medicine at Johns Hopkins, I have assisted genetics patients at all stages of life transitions. I help them to feel empowered, informed, and supported as they incorporate their genetic or medical diagnosis into all aspects of their life. I currently manage a clinic with >600 patient visits a year within my specialty expertise of Aortopathies and connective tissue disorders. Our clinic is passionate about translating results of clinical and laboratory research back to patient care and coordinating multidisciplinary expert care in these conditions.  I also have extensive experience with parent, teen, and childhood support sessions through my involvement in an advisory capacity for the Marfan and Loeys-Dietz Syndrome Foundations.   

As a genetic counselor with cardiovascular expertise, I engage with other genetic counselor experts to provide guidance and advice to other medical providers (both genetic and lay medical audiences) about our specialty area; for example, a review paper on this topic geared toward genetic counselors and internal medicine physicians.

• Morales A, Allain DC, Arscott P, James E, MacCarrick G, Murray B, Tichnell C, Shikany AR, Spencer S, Fitzgerald-Butt SM, Kushner JD, Munn C, Smith E, Spoonamore K, Tandri HS, Kay WA. At the Heart of Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease. J Genet Counsel. 2017; Feb 14
• Demo E, Rigelsky C, Rideout A, Graf M, Pariani M, Regalado E, MacCarrick G. Genetics and Precision Medicine: Heritable Thoracic Disease. Med Clin N Am 103 (2019) 1005-1019.
• Ziegler, SG, MacCarrick G, Dietz HC, . “Toward precision medicine in vascular connective tissue disorders.” AJMG. Part A vol. 185,11 (2021): 3340-3349. 

Additionally, I have first authored medical guidelines on Loeys-Diez syndrome that are instrumental in guiding care providers about the many manifestations and complexities of caring for this patient population:

• MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd. Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med. August 2014; 16(8):576-87.