Health Impact Assessment in Personalized Prevention: three applications on pharmacogenomic testing

Abstract Background In recent years, literature on the efficacy of genetic and genomic tests has expanded, yet the impact of personalized prevention programs that include such tests remains understudied. Our study aims to test the use of the Health Impact Assessment (HIA) framework, traditionally applied in non-health policy evaluation, to assess the impacts of personalized prevention policies. Methods We selected a policy mandating dihydropyrimidine dehydrogenase (DPYD) genetic test use before prescribing fluoropyrimidine for colorectal cancer (CRC) patients. Three HIAs are being conducted in Italy, Portugal, and Finland to assess the applicability across different contexts. The assessment involves literature review, comparative risk modeling, and stakeholder interviews. Three national steering committees, comprising representatives from key interest groups and experts, will evaluate evidence to gauge policy impacts and offer recommendations. Results The potential impacts identified include CRC patients’ outcomes, economic, organizational, patient experience, clinician workload, and equity. Preliminary results show a consensus in literature and national guidelines on the ability of the DPYD test to reduce adverse events and enhance the quality of life of CRC patients. However, the assessment reveals context-specific effects regarding equity, influenced by the prevalence of ethnic groups and variations in access to health services across regions. Differences also emerged on organizational aspects like the availability of resources such as laboratories and personnel. A lack of literature was observed on patient acceptability and clinician attitudes towards the test. Conclusions The use of HIA in personalized prevention might assist in identifying policy impacts often overlooked through the involvement of key interest groups in the assessment process. Such effort can further emphasize the significance of evaluating these programs while considering the geographical context. Key messages • Our study innovatively applies the Health Impact Assessment framework to evaluate personalized prevention programs in pharmacogenomic, addressing a critical research gap. • Preliminary findings underscore the importance of considering geographical factors in public health policy evaluation, highlighting nuanced context-specific effects.