High-risk consumers' perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis

Genet Med. 2012 Feb;14(2):191-200. doi: 10.1038/gim.0b013e31822ddc7e.


Individuals carrying deleterious germline mutations placing them at increased risk for hereditary cancer syndromes (high-risk consumers) often have a great deal of fear and concern over transmitting mutations to their offspring, particularly conditions which are autosomal dominant. Preimplantation genetic diagnosis (PGD) is a procedure that can detect certain germline cancer predisposing mutations present in embryos. The objective of this review was to assess high-risk consumers' knowledge and perceptions of PGD for hereditary cancers. A systematic literature review was conducted through PubMed, Wiley Interscience, PsychInfo, and Cochrane Library databases to identify all articles assessing consumer knowledge and attitudes of PGD for hereditary cancer syndromes. We assessed heterogeneity and the robustness of findings through additional analyses according to study location, hereditary cancer type, and sample size. Thirteen articles remained eligible after the application of specific criteria. Results show a general low level of knowledge about PGD for hereditary cancers, moderate rates of acceptability among high-risk groups, and high levels of need for information about PGD. Individuals in specific risk groups such as those with a personal or family history of hereditary breast and ovarian cancer (HBOC) syndrome or familial adenomatous polyposis (FAP) may benefit from educational information from healthcare professionals about the use of PGD.

Publication types

  • Meta-Analysis
  • Review
  • Systematic Review

MeSH terms

  • Adenomatous Polyposis Coli / diagnosis
  • Adenomatous Polyposis Coli / genetics
  • Adenomatous Polyposis Coli / prevention & control
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics
  • Breast Neoplasms / prevention & control
  • Consumer Health Information
  • Data Interpretation, Statistical
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Health Knowledge, Attitudes, Practice*
  • Humans
  • Mutation
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / prevention & control
  • Ovarian Neoplasms / diagnosis
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / prevention & control
  • Preimplantation Diagnosis*
  • Risk Factors