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

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 +5 more·2014·European Journal of Human Genetics
DOI 10.1038/ejhg.2013.158PMC PMC3925281
Open this paper in CoChat — free account

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.

Integrity signals

Registry

Crossref · 10.1038/ejhg.2013.158

Cites

50 of 50 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Related

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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review