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Updated: Jun 9, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Genomics in medicine: challenges and perspectives for the nursing care]
Maria Grazia Romanelli1, Laura Pressi, Maria Regele
1Docente Corso di Laurea in Infermieristica, Dip. Scienze della Vita e della Riproduzione, Università di Verona.
Introduction:
The acknowledgment of the genetic component in the majority of pathologies, not only hereditary or oncological, and of the individual biological responses to therapies and in infectious diseases, is now granted.
Aims:
The current developments of the genomic fuel new expectations on the modification of medical approach to prevention, diagnosis and therapy of main pathologies, through diagnostic genetic tests, predictive tests and new drugs, towards a "personalized medicine".
Results:
However, the introduction of the desired benefits to medicine and care derived from this knowledge requires the awareness of health operators of the ethical, social and economical implications of genetics and the estimated risks and opportunities of the genetic information. Nurses should update their knowledge and acquire new competencies in genetics, to be able to answer the new questions that the patients place, especially when affected by genetic diseases. This article offers an update on the practical implications of the genomic knowledge on genetic testing, pharmacogenomics, genetic therapy, determination of the genetic risk and on the role of the genetic nurse.
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