Lynch syndrome: Genetic counselling of at-risk individuals and families

Zandrè Bruwer*, Raj Ramesar

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter


Predictive genetic testing for Lynch syndrome can identify whether or not an individual has inherited a mutation predisposing to a high-risk of cancer. Individuals faced with the decision to test for a future health-related risk require knowledge, not just information, on the genetic contribution to disease in their family. Promoting predictive genetic testing within a framework of genetic counselling allows for the interpretation of complex genetic information so as to facilitate decision - making, enhance coping mechanisms and promote preventative measures. Individuals who are identified to be mutation-positive can be enrolled into a targeted screening programme to detect colorectal cancer at an early and potentially curable stage while those individuals testing mutation-negative can be released from intensive surveillance. The process of genetic counselling ensures that the psychological meaning of the condition together with the potential impact of the genetic test result is wholly explored ensuring that the individual is capable of coping with a favourable or unfavourable result. This chapter provides an overview of the current literature on predictive testing with regards to theoretical developments in the context of Lynch syndrome. The pre- and post-test counselling sessions are discussed in detail with specific focus on the importance of informed consent, safeguarding an autonomous decision-making process. An update on barriers to uptake of genetic testing, potential emotional and psychological disruption subsequent to testing, and avenues open for future improvement in the profession are addressed. The communication of the test result and implications for the family members, along with the ethical aspects centred on non-disclosure of genetic information, to those at-risk, are also revised.

Original languageEnglish
Title of host publicationDNA Alterations in Lynch Syndrome
Subtitle of host publicationAdvances in Molecular Diagnosis and Genetic Counselling
PublisherSpringer Netherlands
Number of pages20
ISBN (Electronic)9789400765979
ISBN (Print)9400765967, 9789400765962
Publication statusPublished - Feb 1 2013


  • Barriers
  • Communication
  • Ethics
  • Facilitators
  • Genetic counselling
  • Predictive genetic testing
  • Psychological impact
  • Satisfaction
  • Uptake

ASJC Scopus subject areas

  • Medicine(all)


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