Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Genomic sequencing technologies are becoming increasingly embedded in clinical practice and yet there is still considerable debate over how to handle results that have relevance for the proband’s family members. In this study, we conducted a systematic search for diagnostic consent forms in order to analyze how forms addressed the issues of the family relevance and communication of results. From the 67 consent forms from 11 different countries examined in this study, we observed significant differences in the degree to which these issues were addressed. The forms indicated that genetic services have varying practices regarding the analysis of family members’ samples and how results with familial implications are reported. While many of the forms did not explicitly discuss the communication of results with family members, the forms that did took differing approaches to the issue and in some cases even offered probands options regarding whether or not results would be communicated. This was observed even in countries where national guidelines and legislation allow for the disclosure of results even in the absence of proband consent. Seeing as consent forms are an important way to communicate information with probands and guide discussions with health care professionals, we recommend that consent forms provide more clarity on the issues surrounding the family relevance of genomic information and communication of results.

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Background: When a patient tests positive for a genetic disease he is responsible for notifying his relatives, but this can be difficult. Most people inform relatives they are close with, usually first degree relatives, and expect a domino effect for the others with exceptions for children and elderly. Men are usually less informed than women in the family. The existing facilitators are split in feelings, psychosocial facilitators like counselling sessions and tools like letters and websites. Research question: What are facilitators of communication of genetic risk information? Three secondary endpoints were selected: attitudes of people towards breaches in confidentiality and preferences towards how and by whom genetic risk information is communicated. Methods: A quantitative study based on a survey with cases and general questions from the perspective of the relative receiving genetic information was conducted in pharmacies in West-Flanders. Results: The majority preferred to be informed by a close relative, all subgroups preferred in person. If clinicians would communicate, the GP was preferred. Child wish, younger age and high education were found facilitators, while gender had no influence. The results were inconclusive for previous appointments and treatment options. The majority agreed to using laws to facilitate communication. Conclusion: The results of child wish and high age aligned with previous literature, gender differed. The Belgian policies involving breaches of confidentiality and the patient’s responsibility for communication to distant relatives need changes in the future. The communication tools need to be expanded, because the digitalization of medicine is not followed by patients.