A narrative overview of the patients' outcomes after multigene cancer panel testing, and a thorough evaluation of its implications for genetic counselling

I. Esteban, A. Lopez-Fernandez, J. Balmaña

    Research output: Contribution to journalArticle

    2 Citations (Scopus)

    Abstract

    Massively parallel sequencing is being implemented in clinical practice through the use of multigene panel testing, whole exome sequencing and whole genome sequencing. In this manuscript we explore how the use of massively parallel sequencing, and in particular multigene cancer panel testing, is potentially changing the process of genetic counselling and how patients cope with pre-test genetic counselling and results. We found that the main challenges are around uncertainty, hopes and expectations and the amount and complexity of information that needs to be discussed. This may impact the process of genetic counselling, although genetic counsellors can still use their core skills and enhance some of them in order to evolve and meet patients' needs in the genomics era. Available data suggests that patients can cope with multigene cancer panels although more research is needed to fully understand the psychosocial implications of multigene cancer panels for patients, especially for those who have variants of unknown significance or moderate penetrance variants. Research is also needed to explore and develop communication models that maximize patients' understanding and empower them to make informed decisions.

    Original languageEnglish
    Pages (from-to)342-349
    Number of pages8
    JournalEuropean Journal of Medical Genetics
    Volume62
    Issue number5
    Early online date23 Nov 2018
    DOIs
    Publication statusPublished - May 2019

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