Faculty & Staff

Shana Merrill, PhD, MS, CGC

Shana Merrill is the program director of the Human Genetics and Genetic Counseling program at KGI. She has 20 years of experience as a clinical genetic counselor across nearly all subspecialties of care. She was a prenatal and NICU genetic counselor at Carilion Clinic in Roanoke, VA. Following that, she was a senior genetic counselor specializing in rare cancer syndromes, neurogenetics, general genetics and syndrome diagnosis and management in numerous multidisciplinary disease-specific genetics clinics, connective tissue diseases, and cardiac genetics for nearly 15 years at the Hospital of the University of Pennsylvania in Philadelphia, PA. She subsequently practiced in cardiogenetics in a community setting at AtlantiCare in Southern New Jersey. Prior to joining KGI, she was an adjunct faculty member and a lead clinical supervisor for Thomas Jefferson University's genetic counseling program, as well as a frequent lecturer and lead clinical supervisor for Arcadia/University of Pennsylvania's genetic counseling program. She has a PhD in Social Welfare from the School of Social Policy and Practice at the University of Pennsylvania. Her main research interests surround the ethical, legal, and social implications (ELSI) of genetic medicine, as well as other macro-level topics in the professional evolution of the field of genetic counseling. She received a grant from the American Board of Genetic Counseling to study macro-level ELSI issues and advocacy in genetic counseling.

  1. Merrill, S. L., & Mueller, R. (2026). Socio-ecological models as a framework for 21st-century genetic counseling. Journal of genetic counseling, 35(3), e70224. https://doi.org/10.1002/jgc4.70224
  2. Wilsnack, C., Young, J.L., Merrill, S.L., Groner, V., Bremer, R., Greene, M, Khincha, P, Werner-Lin, A. (2024). Reproductive Beliefs Among Families With Li-Fraumeni Syndrome: Generations of Cancer Risk. Journal of the Society for Social Work and Research, 15. 10.1086/719368
  3. Maxwell, K. N., Patel, V., Nead, K. T., Merrill, S., Clark, D., Jiang, Q., Wubbenhorst, B., D'Andrea, K., Cohen, R. B., Domchek, S. M., Morrissette, J., Greenberg, R. A., Babushok, D. V., & Nathanson, K. L. (2022). Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood. Clinical genetics, 10.1111/cge.14231
  4. Werner-Lin, A., Forbes Shepherd, R., Young, J. L., Wilsnack, C., Merrill, S. L., Greene, M. H., & Khincha, P. P. (2022). Embodied risk for families with Li-Fraumeni syndrome: Like electricity through my body. Social science & medicine (1982), 301, 114905
  5. Wilsnack, C., Young, J. L., Merrill, S. L., Groner, V., Loud, J. T., Bremer, R. C., Greene, M. H., Khincha, P. P., & Werner-Lin, A. (2021). Family Identity and Roles in the Context of Li-Fraumeni Syndrome: "No One's Like Us Mutants. "Health & social work, 46(4), 299–307. https://doi.org/10.1093/hsw/hlab032
  6. Werner-Lin, A., Young, J. L., Wilsnack, C., Merrill, S. L., Groner, V., Greene, M. H., & Khincha, P. P. (2020). Waiting and "weighted down": the challenge of anticipatory loss for individuals and families with Li Fraumeni Syndrome. Familial cancer, 19(3), 259–268. https://doi.org/10.1007/s10689-020-00173-6
  7. Werner-Lin, A., Doyle, M., Merrill, S. & Gehlert, S. (2019). Social work and genetics. In S. Gehlert & T. Arthur Browne. Handbook of Health Social Work, 3rd Ed. Wiley & Sons, San Francisco, CA.
  8. Werner-Lin, A., Merrill, S. L., Brandt, A. C., Barnett, R.E., Matloff, E.T. (2018). Talking with Children About Adult-Onset Hereditary Cancer Risk: A Developmental Approach for Parents. Journal of Genetic Counseling, 27(3), 533–548. doi: 10.1007/s10897-017-0191-7
  9. Reza, N., Chowns, J. L., Merrill, S. L., Marzolf, A., Zado, E. S., Palmer, M. B., … Owens, A. T. (2018). Frameshifts in Code and in Care. Circulation: Genomic and Precision Medicine, 11(5). doi: 10.1161/circgen.118.002215
  10. Reza, N., Garg, A., Merrill, S. L., Chowns, J. L., Rao, S., & Owens, A. T. (2018). ACTA1 Novel Likely Pathogenic Variant in a Family With Dilated Cardiomyopathy. Circulation: Genomic and Precision Medicine, 11(10). doi: 10.1161/circgen.118.002243
  11. Dhifallah, S., Lancaster, E., Merrill, S., Leroudier, N., Mantegazza, M., & Cestèle, S. (2018). Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine. Frontiers in Molecular Neuroscience, 11. doi: 10.3389/fnmol.2018.00232
  12. Werner-Lin, A. & Merrill, S. (2016). A role for social workers in helping families with inherited cancer predisposition: A Case of Li-Fraumeni Syndrome. In J. McCoyd (Ed). Social Work in Healthcare Settings, 2nd Edition.
  13. Sargen, M., Merrill, S., Chu, E., & Nathanson, K. (2016). CDKN2A mutations with p14 loss predisposing to multiple nerve sheath tumours, melanoma, dysplastic naevi and internal malignancies: a case series and review of the literature. British Journal of Dermatology, 175(4), 785–789. doi: 10.1111/bjd.14485
  14. Merrill, S. L., & Guthrie, K. J. (2015). Is it Time for Genomic Counseling? Retrofitting Genetic Counseling for the Era of Genomic Medicine. Current Genetic Medicine Reports, 3(2), 57–64. doi: 10.1007/s40142-015-0068-8 (Invited Publication)
  15. Fishbein, L, Khare, S, Wubbenhorst, B, DeSloover, D, D’Andrea, K, Merrill, S, Cho NW, Greenberg, R, Else, T, Montone, K, LiVolsi, V, Fraker, D, Daber, R, Cohen, D, Nathanson KL. (2015). Whole exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas. Nature Communications, Jan 21;6:6140. doi: 10.1038/ncomms7140.
  16. Baets, J., Duan, X., Wu, Y., Smith, G., Seeley, W. W., Mademan, I., McGrath, N. M., Beadell, N. C., Khoury, J., Botuyan, M. V., Mer, G., Worrell, G. A., Hojo, K., DeLeon, J., Laura, M., Liu, Y. T., Senderek, J., Weis, J., Van den Bergh, P., Merrill, S. L., … Klein, C. J. (2015). Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Brain: a journal of neurology, 138(Pt 4), 845–861. https://doi.org/10.1093/brain/awv010
  17. Bradbury, A., Patrick-Miller L, Long J, Powers J, Stopfer J, Forman A, Rybak C, Mattie K, Brandt A, Chambers R, Chung WK, Churpek J, Daly MB, Digiovanni L, Farengo-Clark D, Fetzer D, Ganschow P, Grana G, Gulden C, Hall M, Kohler L, Maxwell K, Merrill S, Montgomery S, Mueller R, Nielsen S, Olopade O, Rainey K, Seelaus C, Nathanson KL, Domchek S. (2015). Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility. Genetics in Medicine, Jun;17(6):485-92. doi: 10.1038/gim.2014.134.
  18. Fishbein L, Merrill S, Fraker DL, Cohen DL, Nathanson KL. (2013) Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. Annals of Surgical Oncology, May;20(5):1444-50.
  19. Merrill SL, Vaidya A, Pyeritz RE. (2013). Ethical challenges of the use of whole exome sequencing in the clinic. World J Pediatric Congenital Heart Surgery, Jan;4(1):58-61.