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Updated: May 19, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Knowledge and skills needs for health professions about pharmacogenomics testing field
R Di Francia1, D Valente, O Catapano
1Hematology-Oncology and Stem Cell Transplantation Unit, National Cancer Institute, Fondazione G. Pascale IRCCS, Naples, Italy. rdifrancia@iapharmagen.org
Background:
Promise in the future, a disease could be ranked into genetic categories, allowing bespoke tailoring of medicine to maximize therapeutic effects and to reduce the potential for adverse drug response. This new feature requires for health professionals to have competencies not only for the basic skills of their discipline, but also for the understanding on why, when, and how that knowledge should be applied to improve personalized therapies for their patients. Current opinion on basic competences of health professions includes knowledge and skills on two fundamental features: (1) genetics of disease, to allow the understanding and the identification of diseases associated to genetic variations, and to facilitate the development of new genomic tests; and (2) ethical, social and economical implications that are fundamental to identify those factors that might contribute to a successful integration of pharmacogenomics into international health and public policy.
Aim:
Briefly, we described (1) current knowledge on genetic variations that interact with therapies and the need to detect them; (2) the most common available methods for detecting mutations; and (3) ethical, social and economic issues related to pharmacogenetic testing and recording of genetic information (e.g., critical evaluation of the development of new tests, privacy, the current absence of public reimbursement, etc).
Conclusions:
These could be useful recommendations for academic institutions and educational programs to prepare health professionals with the necessary abilities for their future practice.
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