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Monica A Giovanni, MS, CGC

Clinical Investigator

Director of Clinical Genomics Strategy, Northeast


Genomic Medicine Institute
190 Welles Street Suite 128
Forty Fort, PA 18704


MS, Medical Genetics, University of Cincinnati, 2005-2007


Genomics, Genetics, Health Services


Whole Genome Sequencing, Clinical Genomics, Physician Education in Genomics


My professional experience has focused on expanding the reach of genetics services and the implementation of advancing genetic technologies to better serve the population as a whole. As a clinical researcher, I worked to engage patients in the gathering of family health history for direct implementation into the electronic health record for use in primary care. I am involved in several National Human Genome Research Institute (NHGRI) funded research projects on the implementation of whole genome sequencing in primary care as well as in the arena of oncology. In the context of physician education, I have directed continuing medical education courses as well as post graduate education courses in genetics. I am interested in case-based education for practicing providers to expand genomic knowledge.  


Murray MF, Giovanni MA, Klinger E, George E, Marinacci L, Getty G, Brawarsky P, Rocha B, Orav EJ, Bates DW, Haas JS. (2013, April). Comparing Electronic Health Record Portals to Obtain Patient-Entered Family Health History in Primary Care. J Gen Intern Med , Epub ahead of print.   

Coste B, Houge G, Murray MF, Stitziel NO, Bandell M, Giovanni MA, Philippakis AA, Hoischen A, Riemer G, Steen U, Steen VM, Mathur J, Cox JJ, Lebo MS, Rehm HL, Weiss ST, Maas RL, Sunyaev SR, Pataputian A. (2013, Mar). Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause Distal Arthrogryposis Type 5. PNAS , 110(12) 4667-72.   

Shuvarikov A, Campbell IM, Dittwald P, Neill NJ, Bialer MG, Moore C, Wheeler PG, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Terespolsky D, Sodhi S, Cassina M, Viskochil D, Moghaddam B, Herman K, Brown CW, Beck CR, Gambin A, Cheung SW, Patel A, Lamb AN, Shaffer LG, Ellison JW, Ravnan JB, Stankiewicz P, Rosenfeld JA. (2013, Oct). Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays. Human Mutation , 34(10),1415-23.   

Giovanni MA, Fickie MR, Lehmann LS, Green RC, Meckley LM, Veenstra D, Murray, MF. (2010, Dec). Health Care Referrals from Direct-to-Consumer Genetic Testing. Genet Test Mol Biomarkers , 14(6):817-9.   

Annes JA, Giovanni MA, Murray MF. (2010, Sep). Risks of Presymptomatic Direct-to-Consumer Genetic Testing. NEJM , 362(12),1100-1.   

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