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theses

The purpose of this study was to examine the breadth of participant experiences communicating with family members after receiving genetic information from a biobank. Interviews were conducted with MyCode participants who had received results and with family members of participants who had undergone cascade testing. MyCode is a population-based biobank where participants consent to exome sequencing for research and the possibility that Geisinger may return genetic information important to their health. Results for pathogenic and likely pathogenic variants in clinically actionable genes are reported to MyCode participants and their providers. Sixty-three interviews were analyzed for the purpose of this study. The barriers revealed were similar to those found in the literature, with the most common being physical and emotional distance, proband perception that at-risk relatives were too old, not knowing who was at risk, and timing of the communication. Analysis of barriers to cascade testing showed that the most common reasons family members chose not to test were bad timing, thinking they were not at risk or too old for genetic testing, and disinterest in the information. Additionally, several participants and family members believed they had been tested by other means such as direct to consumer (DTC) testing. As access to genetic testing expands, it will be necessary to ensure that consumers fully understand the implications and limitations of different types of genetic testing. Furthermore, continued efforts are needed to assist probands in how to explain their results to family members in order to overcome barriers to family communication and cascade testing.

ETD_9644

M.S.

Includes bibliographical references

doi:10.7282/t3-0xy8-7295

ETD graduate

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