Genetic Testing for Rare Cancer: The Wider Issues

Recent Results Cancer Res. 2016;205:213-26. doi: 10.1007/978-3-319-29998-3_12.


Identification of a potential genetic susceptibility to cancer and confirmation of a pathogenic gene mutation raises a number of challenging issues for the patient with cancer, their relatives and the health professionals caring for them. The specific risks and management issues associated with rare cancer types have been addressed in the earlier chapters. This chapter considers the wider issues involved in genetic counselling and genetic testing for a genetic susceptibility to cancer for patients, families and health professionals. The first part of the chapter will present the issues raised by the current practice in genetic counselling and genetic testing for cancer susceptibility. The second part of the chapter will address some of the issues raised by the advances in genetic testing technology and the future opportunities provided by personalised medicine and targeted cancer therapy. Facilitating these developments requires closer integration of genomics into mainstream cancer care, challenging the existing paradigm of genetic medicine, adding additional layers of complexity to the risk assessment and management of cancer and presenting wider issues for patients, families, health professionals and clinical services.

Keywords: Cancer predisposition genes; Clinical genome sequencing; Diagnostic genetic testing; Direct to consumer testing; Genetic counselling; Incidental findings; Informed consent; Predictive genetic testing; Variant of unknown significance.

MeSH terms

  • Genetic Counseling
  • Genetic Testing*
  • Humans
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / genetics
  • Rare Diseases / diagnosis*
  • Rare Diseases / genetics