12.5 Unit Summary and Review
Key Takeaways
This unit explored the interaction between environmental and genetic factors in shaping health outcomes, emphasizing the undeniable evidence of climate change and its direct and indirect impacts on physical, mental, and social health. Climate-related phenomena like forest fires, floods, and warming oceans have profound effects, including exposure to toxins, food chain disruptions, and economic challenges. Global pandemics, driven by environmental degradation, further highlight the interconnected nature of ecosystems. The WHO’s 2022 report outlines recommendations for leveraging genomic technologies in global health, including pathogen surveillance, tracking antimicrobial resistance, studying disease outbreaks, and addressing health disparities through genomics.
The molecular and genomic underpinnings of cancer were explored, highlighting two physiological processes of cancer development: growth signal autonomy and insensitivity to growth inhibitory signals. Oncogenes, like ras, act as accelerators of cell division when altered by a variant, while tumor suppressor genes, such as p53 and BRCA1, serve as brakes but can promote cancer when inactivated. Most cancers arise from acquired somatic mutations, although germline variants, like those in BRCA1 or Lynch syndrome genes, can elevate cancer risk. That is to say cancer cannot be inherited – one can inherit an increased risk of developing particular cancers. Advances in genomics, such as liquid biopsies and tumor genome sequencing, are transforming cancer detection, monitoring, and treatment. Nurses play a vital role in recognizing hereditary cancer risks, facilitating referrals, and advancing genomic literacy within oncology care.
The integration of genomics into clinical practice is advancing across several specialties, with oncology leading the way and growing applications in pediatrics, maternity, mental health, neurology, and cardiology, as examples. In these practice areas, genomic testing aids in diagnosis, guides treatments, and enables personalized interventions. It also facilitates family planning through cascade testing and genetic counseling. In psychiatry, genomic research has deepened understanding of mental illnesses like schizophrenia and informed targeted therapeutic approaches. As genomics becomes more central to healthcare, practitioners must develop genomic literacy to meet evolving patient needs effectively.
Optional Additional Readings
- Baccarelli, A., Dolinoy, D. C. & Walker, C. L. (2023). A precision environmental health approach to prevention of human disease. Nature Communications, 14, 2449. https://doi.org/10.1038/s41467-023-37626-2
- Brown, J. E. H., Young, J. L., & Martinez-Martin, N. (2022). Psychiatric genomics, mental health equity, and intersectionality: A framework for research and practice. Frontiers in Psychiatry, 13, 1061705. https://doi.org/10.3389/fpsyt.2022.1061705
- Bueser, T., Hargrave, J., Nuthoo, S., & Damianopoulos, A. (2022). Genetic concepts in inherited cardiac conditions. British Journal of Cardiac Nursing, 17(11), 1-9. https://doi.org/10.12968/bjca.2022.0091
- Chia, R., Sabir, M. S., Bandres-Ciga, S., Saez-Atienzar, S., Reynolds, R. H., Gustavsson, E., … & Dickson, D. W. (2021). Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nature Genetics, 53(3), 294-303. https://doi.org/10.1038/s41588-021-00785-3
- Cipri, S., Abenavoli, L., Boccuto, L., Del Baldo, G., & Mastronuzzi, A. (2022). How genetics and genomics advances are rewriting pediatric cancer research and clinical care. Medicina, 58(10), 1386. https://doi.org/10.3390/medicina58101386
- Donato, K., Ceccarini, M. R., Dhuli, K., Bonetti, G., Medori, M. C., Marceddu, G., Precone, V., Xhufi, S., Bushati, M., Bozo, D., Beccari, T., & Bertelli, M. (2022). Gene variants in eating disorders. Focus on anorexia nervosa, bulimia nervosa, and binge-eating disorder. Journal of Preventive Medicine and Hygiene, 63(2 Suppl 3), E297–E305. https://doi.org/10.15167/2421-4248/jpmh2022.63.2S3.2772
- Huckins, L.M., Signer, R., Johnson, J. et al. (2022). What next for eating disorder genetics? Replacing myths with facts to sharpen our understanding. Molecular Psychiatry, 27, 3929–3938. https://doi.org/10.1038/s41380-022-01601-y
- Kia, D. A., Zhang, D., Guelfi, S., Manzoni, C., Hubbard, L., Reynolds, R. H., … & Smith, C. (2021). Identification of candidate Parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets. JAMA Neurology, 78(4), 464-472. https://jamanetwork.com/journals/jamaneurology/fullarticle/2775977
- Martin, L., Mason, S., Kirkby, C., Kearl, Hargrave, J., Partridge, J., Taylor, J., Bueser, T., & Cowley, B. (2023). Inherited cardiomyopathies: How nurses can facilitate holistic care for patients and their families. British Journal of Cardiac Nursing, 18(1), 1-14. https://doi.org/10.12968/bjca.2022.0107
- Mentis, A. F. A., Dardiotis, E., Efthymiou, V., & Chrousos, G. P. (2021). Non-genetic risk and protective factors and biomarkers for neurological disorders: a meta-umbrella systematic review of umbrella reviews. BMC Medicine, 19, 1-28. https://doi.org/10.1186/s12916-020-01873-7
- Seibert, D., & Wysocki, K. (2022). The genomics of COVID. Journal of the American Association of Nurse Practitioners, 34(7), 872–875. https://doi.org/10.1097/JXX.0000000000000727
Attribution & References
Key takeaways generated using ChatGPT. Prompt: “summarize this text in a few sentences, ignoring images, captions, citations and web references.” The output was then edited by Andrea Gretchev.
References
ChatGPT: OpenAI. (2024). ChatGPT (Version 4.0) [Large language model]. https://openai.com
