In the recent NEJM essay p53 and me, Shekinah N.C. Elmore describes the experience of living with a genetic diagnosis as "flying between fatalism and denial". Dr. Elmore was diagnosed with Li–Fraumeni syndrome during her 1st year of medical school having already survived childhood rhabdomyosarcoma and simultaneous diagnoses of breast and lung cancer as an adult. Dr. Elmore explores what it means in her life to have this genetic knowledge, how it affects her life, and what types of information would help her and others undergoing genetic testing in the future.
To learn more about genetic testing, genetic counseling, Li–Fraumeni syndrome, and other genetics topics, explore the Genetics Journal Club and Himmelfarb Library's resources including:
- McCarthy, J., & Mendelsohn, B. A. (2016). Precision Medicine: A Guide to Genomics in Clinical Practice. McGraw-Hill Medical Publishing Division.
- Gardner, R. J. M., & Amor, D. J. (2018). Chromosome abnormalities and genetic counseling (Fifth ed.). New York, NY: Oxford University Press.
- Nussbaum, R. L., McInnes, R. R., & Willard, H. F. (2016). Thompson & Thompson genetics in medicine (Eighth ed.). Philadelphia, PA: Elsevier/Saunders.
- David, S. P., editor, Ginsburg, G. S., & Willard, H. F. (2017). Genomic and precision medicine (Third ed.). London; 4: Academic Press, an imprint of Elsevier.
