Motivations and barriers to pursue cancer genomic testing: A systematic review

Smith-Uffen, M E S; Bartley, Nicci; Davies, Grace; Best, Megan

doi:10.1016/j.pec.2020.12.024

Cited by 22 publications

(20 citation statements)

References 43 publications

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“…49 In fact, both clinicians and patients cite cost and insurance coverage as barriers to genetic testing for hereditary cancer. [51][52][53][54][55][56] For these reasons, a universal approach to MGPT for all patients with solid tumor cancer has the potential to lessen confusion about who is (or not) eligible for testing and who will (or not) have insurance coverage for testing, which ultimately has the potential to increase access to and reduce disparities in germline cancer genetic testing. How many patients with cancer are we missing by applying restrictive testing guidelines?…”

mentioning

confidence: 99%

Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer

Nielsen

Bristow

Garber

et al. 2022

JCO Precision Oncology

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mentioning

confidence: 99%

Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer

Nielsen

Bristow

Garber

et al. 2022

JCO Precision Oncology

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“…Decision‐support tools and harmonized frameworks for classifying genomic alterations are also important to maximize the impact of new technologies in clinical practice. Moreover, there is still a need to better understand the patient experience and expectations regarding genomic testing to improve communication 99 …”

Section: Identifying Patients With Hrr Mutations In Clinical Practicementioning

confidence: 99%

“…Moreover, there is still a need to better understand the patient experience and expectations regarding genomic testing to improve communication. 99…”

Section: Esmomentioning

confidence: 99%

Clinical implications of homologous recombination repair mutations in prostate cancer

Morgado

Mateo

2022

The Prostate

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Prostate cancer is a disease with significant interpatient genomics, with a proportion of patients presenting mutations in key homologous recombination repair (HRR) gene aberrations, particularly in late-stage disease. A better understanding of the genomic landscape of prostate cancer and the prognostic and predictive value of HRR mutations could lead to more precise care for prostate cancer patients.BRCA1/2 mutations are associated with a more aggressive disease course and higher risk of developing lethal prostate cancer, but also identify patients who could benefit from directed therapeutic strategies with PARP inhibitors. Other HRR mutations are also frequent but their prognostic and predictive value for prostate cancer patients is less clear. Moreover, a proportion of these mutations are associated with inherited germline defects, being relevant for the patients' risk of second malignancies but also to inform their relatives' risk of cancer through cascade testing. In this manuscript, we review current knowledge of the prognostic and predictive value for different HHR alterations across the different prostate cancer disease states. Additionally, we assess the challenges to implement genomic testing in clinical practice for prostate cancer patients.

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“…Understanding the motivations and barriers among the general population to participating in research related to receiving personal polygenic risk information may inform design and recruitment strategies for future studies, including the identification of groups that may benefit from tailored approaches and support. Research on motivations and barriers to participating in genomics research have typically targeted specific population subgroups, such as those with a personal or family history of cancer [ 3 ]. These studies have shown that key motivating factors include the ability to predict personal risk, inform management and benefit families, and barriers include concerns about confidentiality, utility, psychological harm [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…Research on motivations and barriers to participating in genomics research have typically targeted specific population subgroups, such as those with a personal or family history of cancer [ 3 ]. These studies have shown that key motivating factors include the ability to predict personal risk, inform management and benefit families, and barriers include concerns about confidentiality, utility, psychological harm [ 3 ]. Another group studied is those undertaking whole genome sequencing with the potential to receive risk results for a wide variety of possible health conditions [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

Motivations and Barriers to Participation in a Randomized Trial on Melanoma Genomic Risk: A Mixed-Methods Analysis

Mercado

Newson²,

Espinoza³

et al. 2022

JPM

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The evolution of polygenic scores for use in for disease prevention and control compels the development of guidelines to optimize their effectiveness and promote equitable use. Understanding the motivations and barriers to participation in genomics research can assist in drafting these standards. We investigated these in a community-based randomized controlled trial that examined the health behavioral impact of receiving personalized melanoma genomic risk information. We examined participant responses in a baseline questionnaire and conducted interviews post-trial participation. Motivations differed in two ways: (1) by gender, with those identifying as women placing greater importance on learning about their personal risk or familial risk, and how to reduce risk; and (2) by age in relation to learning about personal risk, and fear of developing melanoma. A barrier to participation was distrust in the handling of genomic data. Our findings provide new insights into the motivations for participating in genomics research and highlight the need to better target population subgroups including younger men, which will aid in tailoring recruitment for future genomic studies.

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Motivations and barriers to pursue cancer genomic testing: A systematic review

Cited by 22 publications

References 43 publications

Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer

Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer

Clinical implications of homologous recombination repair mutations in prostate cancer

Motivations and Barriers to Participation in a Randomized Trial on Melanoma Genomic Risk: A Mixed-Methods Analysis

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