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Bethanny Smith-Packard, MS, CGC

Bethanny Smith-Packard, MS, CGC , Genetic Counselor

100 N. Academy Ave.
MC: 26-20
Danville, PA 17822

MS, University of Pittsburgh, 2007-2009
BS, Clarkson University, 2003-2007

Research Focus
Genomics, genetics, rare diseases, pediatrics

Clinical genetic counseling, online recruitment, patient registries and subject engagement, genetic counseling for whole genome sequencing

Research Interests
I am interested in non-traditional approaches to subject recruitment and engagement in research. In my work with the Simons VIP study, an online community has been developed that serves as a means to connect and support families with rare copy number variants (CNVs), as well as to recruit families for research studies. This online community also allows us to more actively involve families in the research process and to provide them with educational resources.

I am also involved with the whole genome sequencing program for undiagnosed individuals through the Genomic Medicine Institute.  I am interested in evaluating and improving patients’ understanding of, and satisfaction with, genetic counseling for this testing.

Recent Publications
The Simons VIP Consortium: Simons Variation in Individuals Project (Simons VIP). (2012, March). A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders. Neuron. 73(6): 1063-7.

Wain KE, Riggs E, Hanson K, Savage M, Riethmaier D, Muirhead A, Mitchell E, Smith Packard B, Faucett WA. (2012, May). The Laboratory-Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing. J Genet Counsel. 21 (5):631-37.

Zufferey F, Sherr EH, Beckman ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 49 (10):660-8.

Riggs ER, Wain KE, Riethmaier D, Smith-Packard B, Faucett WA, Hoppman N, Thorland EC, Patel VC, Miller DT. (2013, February). Chromosomal Microarray Impacts Clinical Management. Clin Genet. E-pub ahead of print.