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:

  • Lee G, Varughese LA, Conway L, Stojinski C, Ashokkumar S, Monono K, Matthai W, Kolansky DM, Giri J, Tuteja S. Attitudes toward pharmacogenetics in patients undergoing CYP2C19 testing following percutaneous coronary intervention. Per Med. 2022 Mar;19(2):93-101. doi: 10.2217/pme-2021-0064.

  • Cohen SR, Helbig I, Kaufman MC, Schust Myers L, Conway L, Helbig KL. Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies. Dev Med Child Neurol. 2022; 00: 1-8. doi:10.1111/dmcn.15187.

  • Wadman, E, Conway, L, Garbarini, J, Baker, M.  Moral distress in genetic counseling: A study of North American genetic counselors.  J Genet Couns, 2022; 00: 1-11.

  • DeJesse J, Vajravelu RK, Dudzik C, Constantino G, Long JM, Wangensteen KJ, Valverde KD, Katona BW. Uptake and outcomes of small intestinal and urinary tract cancer surveillance in Lynch syndrome. World J Clin Oncol 2021; 12(11): 1023-1036. doi:10.5306/wjco.v12.i11.1023

  • Crawford, K, Xian, J, Helbig, KL 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.

  • Hartman, TR, Demidova, EV, Lesh, RW, Hoang, L, Richardson, M, Forman, A, Kessler, L., Speare, V, Golemis, EA, Hall, MJ, Daly, MB, & 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).

  • Price, E, Robbins, SJ. Valverde, KV. Increasing diversity in the genetic counseling profession: Development of recruitment tools for African American undergraduate students.  J Genet Couns, 2020 Apr;29(2):224-233.  doi: 10.1002/jgc4.1280

  • 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.