For our second to last talk of the semester, Dr. Matt Kmiecik came in and presented his research on investigating the influence of specific genetic variants and their role on the risk and phenotypic expression of Parkinson’s Disease (PD). Prior to attending the talk, we were required to read the article, “Genetic Modifiers of Parkinson’s Disease: A Case-Control Study” by Kmiecik, et. al. The article began by introducing Parkinson’s Disease and a few common genetic variants associated with it: LRRK2p.G2019S, GBA1p.N409S, the APOE E4 allele, and Polygenic Risk Scores (PRS). Kmiecik and colleagues sought to test the relationship between these risk factors and PD by studying data from the 23andMe and Fox Insight Genetic Substudy databases of individuals carrying one of either the LRRK2p.G2019S variant or the GBA1p.N409S variant, both, or neither of those genetic risk factors. They also studied the impact of the APOE E4 allele and PRS on PD using the databases. The results of the experiment were provided in the article but were further explained by Dr. Kmiecik during his talk.
The study showed that LRRK2pG2019S carriers had a higher chance of developing PD compared to GBA1p.N409S carries, and individuals carrying both had the highest penetrance level for the disease. Furthermore, LRRK2pG2019S carriers displayed more motor-focused symptoms of PD whereas GBA1p.N409S carries showed greater cognitive decline as a result of PD. Lastly, the APOE E4 allele contributed to overall worse symptoms, especially in cognition, and individuals with a higher PRS demonstrated a higher chance of developing PD alongside lowering the average age of onset. These findings demonstrate the complexity of PD and its variance in terms of progression and phenotype based on its genetic motivators. Reading this article and hearing Dr. Kmiecik’s talk led me to wonder how these findings would translate in healthcare and personalized medicine. However, what interested me most was considering whether or not others would want to or even should know about their risk factors.
The article, “Whether people inform themselves or remain ignorant is due to three factors,” by University College London explores why or how people decide whether they want to know about information related to health, finance, and other important lifestyle considerations. Researchers at University College London conducted 5 experiments, ranging from topics of health, finance, and relationships, to determine what influences individuals to obtain or seek out information. In one of the experiments, participants were asked whether or not they wanted to know about their health, such as information that would tell them about their genetic risk for Alzheimer’s or that would reinforce that their genetics ensure a strong immune system. Following the experiments, the participants were questioned on if they thought the information was important to know, how they thought it would make them feel, and were asked to rate how often they thought about the topic in each experiment. The results showed that people decide to know or obtain information based on expected utility, emotional impact, and personal relevance (how often they think about it). The article concludes by stating that this knowledge and understanding of why people choose to acquire information can be important for policy makers regarding decisions on what information should and needs to be disclosed based on its importance and predictable influence on people’s emotions.
Going back to Dr. Kmiecik’s talk with a better understanding of why people decide to know information, I wonder whether the importance of knowing one’s genetic risk outweighs emotional impact or vice versa in this situation. Knowledge of one’s risk factor may encourage the individual to monitor their health and make changes to their lifestyle choices to attempt to prevent or postpone the onset of PD or the influence of environmental factors on it. However, awareness of one’s risk factor may lead to psychological distress and to further health complications. Additionally, the presence of risk factors doesn’t always guarantee that PD will occur. Overall, Dr. Kmiecik’s research is important for furthering understanding of PD, combating it, and personalizing medicine but comes with concerns on whether or not patients should be made aware of their individual genetic risks for PD. As more and more information is gained on genetic risk factors, the psychology behind why people decide to know or not know becomes crucial in guiding whether this information should be shared and how to present it without causing harm.
References
Kmiecik, M. J., Ippolito, D., McDermott, M., Videnovic, A., Hu, M.T., & Berg, D. (2025). Genetic modifiers of Parkinson's disease: A case-control study. Movement Disorders, 40(2), 123-134.
University College London. (2021, December 3). Whether people inform themselves or remain ignorant is due to three factors. ScienceDaily. https://www.sciencedaily.com/releases/2021/12/211203081521.htm
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