Thesis Research as a Genetic Counseling Student

Cara Cacioppo presenting at NSGC
As a recent graduate, Cara Cacioppo, a genetic counselor in the Penn Telegenetics Program, presented her thesis research at the NSGC conference.

Writing a master's thesis is a major accomplishment and a daunting task.  That's why the program is structured to guide students through the process, beginning with a course in research design and ending with formal presentations on Thesis Day. 

As a requirement of graduation, every student completes an individual research project under the supervision of their primary mentors: one who is an expert in the field of study, often a genetic counselor or Penn faculty member, and a member of the program leadership. The student is also supported throughout the process by a research committee comprised of a Penn faculty member, a practicing genetic counselor and a member from the program leadership.


Natalie Burrill presents poster at NSGC
As a recent graduate, Natalie Burrill, a genetic counselor in the Center for Fetal Diagnosis and Treatment at the Children's Hospital of Philadelphia, presented her thesis research at the NSGC conference.

Research projects range from professional surveys and chart reviews to qualitative studies of small populations of patients with rare diseases.  Small grants are available through the program to support the research.

Each year many students successfully submit their projects for presentation at local and national conferences and for publication.  In 2020, 13 of the 16 graduates had accepted abstracts at the NSGC conference, with the others submitting to more specific national conferences and for publication.

Having gained experience in all aspects of the research process, students graduate from the program with the capacity to develop a research idea, to conduct ethical research, to interact with an IRB, to convert raw data to a written and comprehensible document, and to work collaboratively on a professional project.

Recent publications from thesis research:

  • Crawford, K., Xian, J., Helbig, K.L. et al.  (2021). Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 23(7), 1263–1272.

  • Kessler, LJ, LaMarra, D, MacFarlane, IM, Heller, M, Valverde, KD. (2021). Characterizing standardized patients and genetic counseling graduate education. J Genet Couns. 30: 493– 502.

  • Hartman, T.R., Demidova, E.V., Lesh, R.W., Hoang, L., Richardson, M., Forman, A., Kessler, L., Speare, V., Golemis, E.A., Hall, M.J., Daly, M.B., & Arora, S. (2020). Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer. Scientific Reports, 10(13518).

  • Grand, K, Katz, L, Crowley, B, Moss, E, Lessig, M, Bamba, V, Zackai, E, Emanuel, B, Valverde, K, and McDonald-McGinn, D. (2018). Impact of Hypocalcemia on Full Scale IQ in Patients with 22q11.2 Deletion Syndrome. American Journal of Medical Genetics: Part A. 2018 Oct; 176 (10): 2167-71. doi: 10.1002/ajmg.a.40535.

  • McCarty A, Miller J, Pennington J, Fecteau H, Kessler L. (2018). Utilization of the Tablet Application Proband in Pedigree Construction and Assessment. J Genet Couns. 2018 Apr;27(2):406-415. doi: 10.1007/s10897-017-0197-1.
  • Rayannavar, A, Levitt Katz, LE, Blaine Crowley, T, Lessig, M, Grand, K, Goldmuntz, E, Zackai, E & McDonald-McGinn, D. (2018). Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome. Am J Med Genet Part A. 2018; 176A: 2099– 2103.

  • Zolkipli-Cunningham, Z, Xiao, R, Stoddart, A, McCormick, E, Holberts, A, Burrill, N, McCormack, S, Williams, L, Wang, X, Thompson, J, and Falk, M. (2018).  Mitochondrial disease patient motivations and barriers to participate in clinical trials. PLoS One. 2018 May 17;13(5): e0197513.  PMID: 29771953; PMCID: PMC5957366.
  • Kruszka, P, Addissie, YA, McGinn, DE, Porras, AR, Biggs, E, Share, M, Crowley, TB, et al. (2017).  22q11.2 deletion syndrome in diverse populations.  American Journal of Medical Genetics Part A. 173A: 879-888. doi: 10.1002/ajmg.a.38199.
  • Sacca, R, Zurcd, KB, Crowley, B, Zackai, EH, Valverde, KD, McDonald-McGinn, D. Association of airway abnormalities with 22q11.2 deletion syndrome. (2017). International Journal of Pediatric Otorhinolaryngology, Volume 96, May 2017, 11-14.
  • January K, Conway LJ, Deardorff M, Harrington A, Krantz ID, Loomes K, Pipan M, and Noon SE. (2016). Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses. Am J Med Genet C Semin Med Genet., 172 (2):237-245. doi: 10.1002/ajmg.c.31500
  • Cacioppo CN, Conway LJ, Mehta D, Krantz ID, Noon SE. (2016). Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet., 2016 Jun; 172 (2):229-236. doi:10.1002/ajmg.c.31504
  • Werner-Lin A, Barg FK, Kellom KS, Stumm KJ, Pilchman L, Tomlinson AN, Bernhardt, BA. (2016). Couple's Narratives of Communion and Isolation Following Abnormal Prenatal Microarray Testing Results. Qual Health Res.  Dec;26(14):1975-1987. doi: 10.1177/1049732315603367.