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Accurate and understandable information following genetic testing is critical for patients, family members, and professionals alike.
As part of a cross-site study from the Clinical Sequencing Evidence-Generating Research (CSER) consortium, we investigated the information-seeking practices among patients and family members at five to seven months after genetic testing results disclosure, assessing the perceived utility of a variety of information sources, such as family and friends, healthcare providers, support groups, and the internet.
We found that individuals placed a high value on information obtained from genetics professionals and healthcare workers, independent of genetic testing result case classifications as positive, inconclusive, or negative. The internet was also highly utilized and ranked. Study participants rated some information sources as more useful for positive results compared to inconclusive or negative outcomes, emphasizing that it may be difficult to identify helpful information for individuals receiving an uncertain or negative result. There were few data from non-English speakers, highlighting the need to develop strategies to reach this population.
Our study emphasizes the need for clinicians to provide accurate and comprehensible information to individuals from diverse populations following genetic testing.
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Accepted: May 7, 2023
Received in revised form: May 3, 2023
Received: July 19, 2022
Publication stageIn Press Accepted Manuscript
© 2023 Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.