Elizabeth DeChene, MS LCGC is a certified genetic counselor with 17 years of experience in research and clinical genetics laboratories, as well as a pediatrics genetics clinic. After obtaining her Master’s in Genetic Counseling from Brandeis University in 2004, Elizabeth spent 8 years in the Boston genetics community both managing research studies on neuromuscular disease and providing clinical genetic counseling. Subsequently, Elizabeth became the project coordinator for “PediSeq,” a study led by Ian Krantz and Nancy Spinner that focused on determining best practices for exome testing in pediatric clinical care. After the CHOP Division of Genomic Diagnostics (DGD) was formed, Elizabeth became the first manager of the clinical genetic laboratory’s Genetic Counseling Core and later transitioned to a position focused on supporting the clinical responsibilities of the Core, including clinician education and interpretation/results reporting for constitutional genetic tests, such as targeted NGS panels, exome, and chromosomal SNP microarray. In addition, Elizabeth developed and co-directs the laboratory module of the Foundations in Clinical Genetics and Genomics course for the University of Pennsylvania Genetic Counseling Program.
Licensed Certified Genetic Counselor (LCGC)
BA in Biological Foundations of Behavior - Franklin and Marshall College, Lancaster, PA
MS in Genetic Counseling - Brandeis University, Waltham, MA
Licensed Genetic Counselor
Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, Denenberg EH, DeChene ET, Wu C, Jayaraman P, Cao K, Gonzalez M, Devoto M, Testori A, Monos JD, Dulik MC, Conlin LK, Luo M, McDonald Gibson K, Guan Q, Sarmady M, Bhoj E, Helbig I, Zackai EH, Bedoukian EC, Wilkens A, Tarpinian J, Izumi K, Skraban CM, Deardorff MA, Medne L, Krantz ID, Krock BL, Santani AB. (2022) Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? J Mol Diagn. 2022 Mar;24(3):274- 286.
Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M, Santen GWE, Ruivenkamp C, Mercimek-Andrews S, Depienne C, Kuechler A, Mikat B, Ludecke HJ, Bilan F, Le Guyader G, Gilbert- Dussardier B, Keren B, Heide S, Haye D, Van Esch H, Keldermans L, Ortiz D, Lancaster E, Krantz ID, Krock BL, Pechter KB, Arkader A, Medne L, DeChene ET, Calpena E, Melistaccio G, Wilkie AOM, Suri M, Foulds N; Genomics England Research Consortium, Begtrup A, Henderson LB, Forster C, Reed P, McDonald MT, McConkie-Rosell A, Thevenon J, Le Tanno P, Coutton C, Tsai ACH, Stewart S, Maver A, Gorazd R, Pichon O, Nizon M, Cogné B, Isidor B, Martin-Coignard D, Stoeva R, Lefebvre V, Le Caignec C. (2020) De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas. Am J Hum Genet. Jun 4;106(6):830-845.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. (2020) The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype- phenotype correlations, and molecular basis. Genet Med. Feb;22(2):389-397.
Baker SW, Murrell JR, Nesbitt AI, Pechter KB, Balciuniene J, Zhao X, Yu Z, Denenberg EH, DeChene ET, Wilkens AB, Bhoj EJ, Guan Q, Dulik MC, Conlin LK, Abou Tayoun AN, Luo M, Wu C, Cao K, Sarmady M, Bedoukian EC, Tarpinian J, Medne L, Skraban CM, Deardorff MA, Krantz ID, Krock BL, Santani AB. (2019) Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. J Mol Diagn. Jan;21(1):38-48.
Balciuniene J, DeChene ET, Akgumus G, Romasko EJ, Cao K, Dubbs HA, Mulchandani S, Spinner NB, Conlin LK, Marsh ED, Goldberg E, Helbig I, Sarmady M, Abou Tayoun A. (2019) Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy. JAMA Netw Open. Apr 5;2(4):e192129.
Hershkovitz T, Kurolap A, Ruhrman-Shahar N, Monakier D, DeChene ET, Peretz-Amit G, Funke B, Zucker N, Hirsch R, Tan WH, Baris Feldman H. (2019) Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype- phenotype correlations. Am J Med Genet A. 179(3):365-372.
Gibson KM, Nesbitt A, Cao K, Yu Z, Denenberg E, DeChene E, Guan Q, Bhoj E, Zhou X, Zhang B, Wu C, Dubbs H, Wilkens A, Medne L, Bedoukian E, White PS, Pennington J, Lou M, Conlin L, Monos D, Sarmady M, Marsh E, Zackai E, Spinner N, Krantz I, Deardorff M, Santani A. (2018) Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Genet Med, 20(3):329-336.
Romasko EJ, DeChene ET, Balciuniene J, Akgumus GT, Helbig I, Tarpinian JM, Keena BA, Vogiatzi MG, Zackai EH, Izumi K, Massey SL, Tayoun ANA. (2018) PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism. Epilepsy Res, 145:89-92.
Sheppard S, Biswas S, Li MH, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, Wilkens A, Raible SE, Scarano MI, Santani A,
Pennington JW, Luo M, Conlin LK, Devkota B, Dulik MC, Spinner NB, Krantz ID. (2018) Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. Genet Med. [Epub ahead of print]
Li MH, Abrudan JL, Dulik MC, Sasson A, Brunton J, Jayaraman V, Dugan N, Haley D, Rajagopalan R, Biswas S, Sarmady M, DeChene ET, Deardorff MA, Wilkens A, Noon SE, Scarano MI, Santani AB, White PS, Pennington J, Conlin LK, Spinner NB, Krantz ID, Vetter VL. (2015) Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. Hum Genomics, 19;9:15.
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, et al. (2014) An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol, 15(3): R53.
Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG. (2014) Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat 35(7):868-79.
Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, Robinson PN, White PS. (2014) Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology. BMC Bioinformatics, 15:248.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. (2013) Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology, 81(14):1205-14.
DeChene ET, Kang PB, Beggs AH. (Updated 2013) Congenital fiber type disproportion. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2012. Available at http://www.genetests.org.
Berg JS, Amendola LM, Eng C, Allen EV, Gray SW, Wagle N, Rehm HL, Dechene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP. (2013) Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med, 15 (11):860-7.
Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, et al. (2012) Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat, 33(6):949-59.
Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB. (2012) Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics, 13(2):115-24.
American Society of Human Genetics
National Society of Genetic Counselors