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Abstract
Purpose
Accurate and understandable information following genetic testing is critical for
patients, family members, and professionals alike.
Methods
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.
Results
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.
Conclusion
Our study emphasizes the need for clinicians to provide accurate and comprehensible
information to individuals from diverse populations following genetic testing.
Keywords
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Article info
Publication history
Accepted:
May 7,
2023
Received in revised form:
May 3,
2023
Received:
July 19,
2022
Publication stage
In Press Accepted ManuscriptIdentification
Copyright
© 2023 Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.
