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Cited by 116BRCA gene mutations in cancerCancer Genomics and DiagnosticsEthics in Clinical Research

The DOI matches its Crossref record; 50 of the 50 references it cites were found in a registry or an index.

Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care

Open access
Miller, Fiona A, Hayeems, Robin Z, Bytautas, Jessica P, Bedard, Philippe L, Ernst, Scott, Hirte, Hal, Hotte, Sebastien, Oza, Amit, Razak, Albiruni, Welch, Stephen, Winquist, Eric, Dancey, Janet, Siu, Lillian L·2014·European Journal of Human Genetics
DOI 10.1038/ejhg.2013.158PMC PMC3925281
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Abstract

Developments in genomics, including next-generation sequencing technologies, are expected to enable a more personalized approach to clinical care, with improved risk stratification and treatment selection. In oncology, personalized medicine is particularly advanced and increasingly used to identify oncogenic variants in tumor tissue that predict responsiveness to specific drugs. Yet, the translational research needed to validate these technologies will be conducted in patients with late-stage cancer and is expected to produce results of variable clinical significance and incidentally identify genetic risks. To explore the experiential context in which much of personalized cancer care will be developed and evaluated, we conducted a qualitative interview study alongside a pilot feasibility study of targeted DNA sequencing of metastatic tumor biopsies in adult patients with advanced solid malignancies. We recruited 29/73 patients and 14/17 physicians; transcripts from semi-structured interviews were analyzed for thematic patterns using an interpretive descriptive approach. Patient hopes of benefit from research participation were enhanced by the promise of novel and targeted treatment but challenged by non-findings or by limited access to relevant trials. Family obligations informed a willingness to receive genetic information, which was perceived as burdensome given disease stage or as inconsequential given faced challenges. Physicians were optimistic about long-term potential but conservative about immediate benefits and mindful of elevated patient expectations; consent and counseling processes were expected to mitigate challenges from incidental findings. These findings suggest the need for information and decision tools to support physicians in communicating realistic prospects of benefit, and for cautious approaches to the generation of incidental genetic information.

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Crossref · 10.1038/ejhg.2013.158

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Metadata

Authors
Miller, F. A., Hayeems, R. Z., Bytautas, J. P., Bedard, P. L., Ernst, S., Hirte, H., Hotte, S., Oza, A., Razak, A., Welch, S., Winquist, E., Dancey, J., & Siu, L. L.
Affiliations
  • University of Toronto (CA)
  • University Health Network (CA)
  • London Health Sciences Centre (CA)
  • Juravinski Cancer Centre (CA)
  • Ontario Institute for Cancer Research (CA)
Corresponding author
Miller, Fiona A
ORCID
Venue
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2013-07-17
Volume
22
Issue
3
Pages
391-395
ISSN
  • 1018-4813 (ISSN-L)
  • 1476-5438
DOI
10.1038/ejhg.2013.158
PMC
PMC3925281
OpenAlex
W2025342001
Cited by
116
References
50
Citations by year
2026: 5 · 2025: 2 · 2024: 4 · 2023: 11 · 2022: 7 · 2021: 11 · 2020: 15 · 2019: 13 · 2018: 9 · 2017: 8 · 2016: 14 · 2015: 10 · 2014: 7
FWCI
6.86
Type
journal article
Language
en
Open access
Licence
www.springer.com/tdm (tdm)
Locations
  • European Journal of Human Genetics (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
Ontario Institute for Cancer Research
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
Keywords
personalized medicine, next-generation sequencing, late-stage cancer, metastatic solid tumors, patient expectations, physician expectations, targeted sequencing, incidental finding, genetic counseling, informed consent, family responsibilities, research participation, physician-patient communication, translational research
MeSH terms
Adult, Aged, Aged, 80 and over, Decision Making, DNA, Neoplasm, Female, Humans, Male, Middle Aged, Neoplasm Staging, Neoplasms, Patient Education as Topic, Patients, Physicians, Genome, Human, Sequence Analysis, DNA, Genetic Predisposition to Disease, Precision Medicine, Self Report, High-Throughput Nucleotide Sequencing

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