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

Eur J Med Genet. 2019 May;62(5):342-349. doi: 10.1016/j.ejmg.2018.11.027. Epub 2018 Nov 23.

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.

Publication types

  • Review

MeSH terms

  • Adaptation, Psychological
  • Attitude*
  • Biomarkers, Tumor / genetics*
  • Genetic Counseling / methods
  • Genetic Counseling / psychology*
  • Genetic Counseling / standards
  • Genetic Predisposition to Disease / psychology*
  • Humans
  • Neoplasms / genetics*
  • Patient Outcome Assessment*
  • Penetrance

Substances

  • Biomarkers, Tumor