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Updated: May 5, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 19, 2013
What Do Patients With Cancer Know, or Want to Know, About Genomic Tumor Sequencing and Genetic Testing? A
1From Clemson University, Clemson, South Carolina.
Abstract:
Molecular profiling (MP), which involves testing tissue, blood, or other body fluids to identify biomarkers, has become increasingly important in cancer treatment. Genomic tumor sequencing, a specific type of MP, is commonly used to identify specific gene variants or proteins that can be targeted for treatment. Germline testing is also routinely recommended for certain cancers. Low levels of genomic literacy among cancer patients, coupled with increasingly complex test results, challenge clinicians to communicate results and provide appropriate education. In addition, patients may have varying preferences for the level of information they desire and are able to process. This state-of-the-art review explores cancer patients' expectations, attitudes, knowledge, satisfaction, and concerns as they undergo molecular profiling. A search was conducted through four databases to identify studies from 2016 to 2022 to explore cancer patients' knowledge and preferences regarding genomic testing. Nineteen studies met the inclusion criteria. Most studies revealed that people with cancer have low levels of knowledge regarding MP, albeit with significant variability. Patients primarily desired MP to identify new treatment options and increase survival. While patients relied on their providers to interpret test results, they wanted to be informed of all results, mainly if those results might guide treatment decisions or future care planning. Most patients, especially those with low genomic/genetic knowledge, tended to overestimate the personal benefits of MP. Further study is needed to provide tailored education to fulfill patients' information needs.
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