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. 2018 Aug 21;6(6):898–909. doi: 10.1002/mgg3.453

Table 3.

Four challenges to address in considering the use of CGES to ascertain and disclose carrier results in translational genomics research

General challenges Specific questions
Whether or not to offer to disclose carrier results What is the likely perceived utility of carrier results in this study population?
Can the research team inform their decisions on whether and how to offer carrier status findings through pilot studies or other research on participant interest in these findings and the feasibility of disclosure?
Selection of genes/conditions to disclose for carrier status What specific criteria will be used?
Will the genes/conditions selected for disclosure be determined before or after sequencing takes place?
Will novel variants be disclosed?
What levels of pathogenicity will be disclosed?
Participant choices Can participants choose whether or not to receive results?
Can participants choose specific categories of results?
Will participants be asked to use a distinct process to make the decision of whether to receive carrier results?
Results disclosure process Will results be disclosed via in person meeting, phone, email/letter, or internet?
Who will convey the results?
Will both positive and negative results be disclosed?
Will positive and negative results be conveyed in the same way and/or by the same type of provider?