Genetic Testing: Challenges and Changes in Testing for Hereditary Cancer Syndromes

Clin J Oncol Nurs. 2017 Oct 1;21(5):589-598. doi: 10.1188/17.CJON.589-598.


Background: The practice of genetic testing for hereditary cancer syndromes has changed dramatically in recent years, and patients often approach oncology nurses requesting information about genetic testing. .

Objectives: This article aims to explore changes in cancer genetics, the role of genetics professionals in providing comprehensive genetic care, and the implications of these new developments in genetics for oncology nurses. .

Methods: A literature review was conducted and focused on articles about the updating of genetic tests with panel testing, insurance changes, alternative genetic counseling strategies, and direct-to-consumer genetic testing. .

Findings: Oncology nurses play an important role in identifying and referring patients, including those who have tested negative for hereditary susceptibility genes, to genetics professionals. Genetics professionals can assist with insurance issues, interpretation of test results, clarification when a variant of unknown clinical significance is detected, and recommendations for care based on personal and family history and testing results. Oncology nurses can assist families with understanding the limitations of direct-to-consumer genetic testing.

Keywords: direct-to-consumer genetic testing; genetic testing; hereditary breast cancer.

MeSH terms

  • Genetic Counseling
  • Genetic Testing / methods*
  • Humans
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / genetics
  • Oncology Nursing
  • Referral and Consultation