Ethico-legal and Policy Issues Surrounding Personalised Medicine

Roberta Pastorino, Michael Lang, Ma’n H. Zawati, Giovanna Elisa Calabrò, Ilda Hoxhaj, Elisa J.F. Houwink, Michele Sassano, Stefania Boccia

Research output: Chapter in Book/Report/Conference proceedingChapter


The last fifteen years have seen the emergence of Public Health Genomics (PHG), a multidisciplinary field related to the effective and responsible translation of genome-based knowledge and technologies to improve population health. While at the beginning the main concern of PHG was that genetic/genomic applications should be evaluated rigorously before entering into clinical and public health (PH) practice, now the main matter is around the fact that there are some genetic/genomic applications with proved efficacy and cost-effectiveness that should be implemented and become citizens’ rights. In any case, there is a critical need for a robust evaluation process, that takes into account also context-related dimensions (delivery models, economic evaluation and organizational aspects) to facilitate the implementation of these technologies. Systematic reviews of full economic evaluations of genetic/genomic applications are of paramount importance to identify all feasible health programs involving a defined use of a particular genetic/genomic application and to recognize which health programs can maximize the value of that genetic/genomic application. Cost-effectiveness analyses may be useful also in the early stages of the evaluation process to assess which characteristics of a genetic/genomic application need to be improved. Finally, the implementation of genetic/genomics applications requires specific training efforts for public health professional to increase their current level of competence. All these issues are addressed in this chapter, using the population health perspective and the point of view of PH.

Original languageEnglish
Title of host publicationSpringerBriefs in Public Health
Number of pages20
Publication statusPublished - 2021

Publication series

NameSpringerBriefs in Public Health
ISSN (Print)2192-3698
ISSN (Electronic)2192-3701


  • Citizen expectation
  • Direct-to-consumer genetic tests
  • Ethical issues
  • Healthcare professionals
  • Policy
  • Training

ASJC Scopus subject areas

  • Health Policy
  • Health Informatics
  • Public Health, Environmental and Occupational Health


Dive into the research topics of 'Ethico-legal and Policy Issues Surrounding Personalised Medicine'. Together they form a unique fingerprint.

Cite this