Originally from Italy, Lara obtained her bachelor’s and master’s degree in philosophy at University of Milan. After teaching in high schools for a couple of years, she pursued a second master’s degree in applied ethics at Utrecht University. During her time in the Netherlands, she researched the ethical issues of the transition towards animal-free models in preclinical research in the context of the TPI (Transitie Proefdiervrij Innovatie). At the same time, she taught at Eindhoven University of Technology in a challenge-based course exploring the ethical and societal aspects of brain-on-chip technology.
Polygenic Risk Score(s) in the clinic: ethical challenges and stakeholders’ perspectives
GWAS (genome-wide association studies) in the last decade have shown that a conspicuous part of common, multifactorial diseases (coronary artery disease, diabetes, breast cancer) is typically determined by thousands of genetic variants across the genome. While the magnitude of each single variant is very low, their sum can reveal the genetic architecture of a disease, and thus be informative. To capture the combined effect size of variants on an individual’s predisposition to a certain phenotype, statistical protocols have been developed to derive so-called Polygenic Risk Scores (PRS). PRSs might deliver a series of benefits which are in line with the fundamental goal of Precision Medicine (PM) to innovate disease management and treatment in a personalized, predictive and preventive manner. So far, research studies suggest that information provided by PRSs could be potentially utilized in the clinic as a supplementary tool to improve disease-risk prediction, adopt more targeted and preventive strategies at individual and population level, and shorten diagnostic pathways. However, the introduction of PRSs in clinical care remains debated due to a series of epistemic and normative issues that hinder their clinical utility. Important limitations of PRSs regard the poor predictive power in individuals of non-European ancestry, a fact that might contribute to the exacerbation of already existing health disparities; further concerns are also expressed regarding the risk of unintended harm, such as false reassurance or over-diagnosis/treatment for individuals, as the interpretation of the genetic component captured by PRSs together with environmental and lifestyle factors remains problematic. The goal of the present project is double fold: to critically analyze the ethical and social challenges arising from the implementation of PRSs in clinical care and to gain deeper insights on how key stakeholders such as physicians (clinical geneticists), genetic counsellors, researchers and patients conceptualize the ethical and social aspects of PRSs. Finally, a normative reflection on the findings will be performed and key recommendations for a responsible introduction of PRSs in clinical practice outlined
My scientific interests revolve around the ethics of human genetics, ethical and societal aspects of technological innovation in healthcare as well as the intersection between epistemology and ethics.
Dedicated yoga practitioner and passionate about knitting, reading and travelling.