Parents' responses to disclosure of genetic test results of their children

Am J Med Genet. 2000 Oct 2;94(4):316-23. doi: 10.1002/1096-8628(20001002)94:4<316::aid-ajmg10>;2-n.


The psychological reactions of 22 parental couples and 3 single parents were investigated after disclosure of genetic test results of their children. The children were tested for the early-onset, monogenetic cancer disorder multiple endocrine neoplasia type 2. Participants came from 13 different families and were aged between 28 and 47 years. Parents who were informed that their child was a gene carrier reacted with resignation, showed moderate to high levels of test-related and general anxiety, but few psychological complaints. Daily activities were disturbed in 43% of the parents with carrier-children. There was little disruption of the parents' future perspective, apart from some socioeconomic disadvantages and increased parental concern for the carrier-children. Most parents with carrier-children showed restraint with respect to short-term prophylactic treatment. Parents with favorable test results showed significantly less anxiety and no disturbance in their daily activities. They did not, however, seem to be reassured by the DNA test result. These parents questioned the reliability of the DNA test, wanted confirmation of the test results, and were eager to continue screening of their noncarrier children. Parents, especially those with a lower level of education and/or a pessimistic view of the future, were distressed by unfavorable test results. Additional counseling is advised to prevent parents of carrier-children worrying unnecessarily, or parents with children in whom the disease gene was not found being not reassured. Am. J. Med. Genet. 94:316-323, 2000.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Carcinoma, Medullary / genetics
  • Carcinoma, Medullary / psychology
  • Carcinoma, Medullary / therapy
  • Child
  • Female
  • Genetic Carrier Screening
  • Genetic Predisposition to Disease / genetics
  • Genetic Predisposition to Disease / psychology*
  • Genetic Testing / psychology*
  • Humans
  • Infant
  • Infant, Newborn
  • Informed Consent
  • Male
  • Middle Aged
  • Multiple Endocrine Neoplasia Type 2a / genetics
  • Multiple Endocrine Neoplasia Type 2a / psychology
  • Multiple Endocrine Neoplasia Type 2a / therapy
  • Parents / psychology*
  • Risk Factors
  • Thyroid Neoplasms / genetics
  • Thyroid Neoplasms / psychology
  • Thyroid Neoplasms / therapy
  • Truth Disclosure*