Communicating genetic information to family members: analysis of consent forms for diagnostic genomic sequencing

Research output: Contribution to journalJournal articleResearchpeer-review

  • Amicia Phillips
  • Niemiec, Emilia
  • Heidi Carmen Howard
  • Kalliopi Kagkelari
  • Pascal Borry
  • Danya F. Vears

Communicating results from genomic sequencing to family members can play an essential role allowing access to surveillance, prevention, treatment or prophylactic measures. Yet, many patients struggle with communication of these results and it is unclear to what extent this is discussed during the consent process. We conducted an online systematic search and used content analysis to explore how consent forms for genomic sequencing address communication of genetic information to family members. Our search yielded 68 consent forms from 11 countries. Although 57 forms alluded to the familial nature of results, forms varied in their discussion of the potential familial implications of results. Only 11 addressed communication of genetic information with family members, with differences in who would be responsible for this process. Several forms offered patients options regarding communication, even in countries where national guidelines and legislation allow for the disclosure of results in the absence of patient consent. These findings are concerning because they show how forms may potentially mislead patients and health care professionals about whether communication is permissible in cases where the patient does not consent. We suggest that providers and health care professionals reconsider how consent forms address communicating genetic information to family members.

Original languageEnglish
JournalEuropean Journal of Human Genetics
Volume28
Issue number9
Pages (from-to)1160-1167
Number of pages8
ISSN1018-4813
DOIs
Publication statusPublished - 1 Sep 2020

Bibliographical note

Funding Information:
Funding DV is a Postdoctoral Research Fellow of the Research Foundation–Flanders (FWO Vlaanderen) and acknowledges the infrastructure funding received from the Victorian State Government through the Operational Infrastructure Support (OIS) Program.

Publisher Copyright:
© 2020, The Author(s), under exclusive licence to European Society of Human Genetics.

ID: 369539984