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Cited by 58Ethics and bioethics in healthcareMedical and Health Sciences ResearchEthics in Clinical Research

Implementing Precision Medicine: The Ethical Challenges

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Korngiebel, Diane M., Thummel, Kenneth E., Burke, Wylie·2017·Trends in Pharmacological Sciences
DOI 10.1016/j.tips.2016.11.007PMC PMC5217469
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Abstract

Precision medicine aims to individualize care by understanding differences in genetics, lifestyle, and environment. Pharmacogenomics and cancer genetics represent two promising areas for this approach. Pharmacogenomic tests have the potential to direct drug prescribing to increase safety and effectiveness because individuals vary on a genetic basis in their response to many drugs. Similarly, tests to identify people with an inherited cancer risk can guide prevention. For both, a few tests have entered clinical practice and more are under development. Implementation challenges include the limited evidence base available to guide clinical use and the lack of data from diverse populations. Accordingly, ongoing research should prioritize procedures that enhance the trustworthiness of clinical practice guidelines and create decision support for clinicians and patients that address their needs and accommodate flexibility. Each step involves choices with ethical implications.

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  • For other population groups, there is an increased probability that the result of a genetic test will produce variants of unknown clinical significance.

    “This means that for other population groups, there is an increased probability that the result of a genetic test will produce variants of unknown clinical significance.”

    From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [123]

    The “Addressing health care disparities” section says minority women are more likely than women of European ancestry to receive a variant-of-unknown-significance result when tested for hereditary breast and ovarian cancer. The claim extends that finding to genetic tests generally, which the passage does not establish. (LLM, conf=0.84)

    Experimental — accuracy not yet measured

  • It is not known whether these variants can cause a disease, as they have not yet been researched.

    “Thus, it is not known whether these variants can cause a disease, as they have not yet been researched.”

    From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [123]

    The “Addressing health care disparities” section says a newly identified BRCA1 or BRCA2 variant may be difficult to classify as pathogenic or benign. It attributes more inconclusive results in minority women to less research in non-white populations, but does not say the variants have not been researched at all. (LLM, conf=0.85)

    Experimental — accuracy not yet measured

  • Non-Northern Europeans benefit less from developments in PM.

    “The result is that non-Northern Europeans benefit less from developments in PM [123].”

    From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [123]

    The ‘Addressing health care disparities’ section says most genetic data come from people of northern European ancestry and describes treatment disparities and less informative cancer-genetics results for other populations. It supports a concern about unequal benefits, but says new tests *may* exacerbate disparities; it does not establish that all non-Northern Europeans benefit less from precision-medicine developments generally. Page numbers are unavailable in our copy. (LLM, conf=0.83)

    Experimental — accuracy not yet measured

  • The reason for unequal benefit is a recruitment bias in PM, namely the fact that most genetic data are obtained from Northern Europeans.

    “The reason for this is a recruitment bias in PM, namely the fact that most genetic data are obtained from Northern Europeans.”

    From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [123]

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Cited by

Sorted by citations

Authors
Korngiebel, D. M., Thummel, K. E., & Burke, W.
Affiliations
University of Washington (US)
Corresponding author
Burke, Wylie
ORCID
Venue
Trends in Pharmacological Sciences
Publisher
Elsevier BV
Published
2017-01
Volume
38
Issue
1
Pages
8-14
ISSN
0165-6147 (ISSN-L)
DOI
10.1016/j.tips.2016.11.007
PMC
PMC5217469
OpenAlex
W2559811488
Cited by
58
References
42
Citations by year
2026: 4 · 2025: 9 · 2024: 8 · 2023: 8 · 2022: 7 · 2021: 4 · 2020: 3 · 2019: 7 · 2018: 4 · 2017: 4
FWCI
0.75
Type
journal article
Language
en
Open access
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Trends in Pharmacological Sciences (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Institutes of Health (5p50hg003374-10)
  • National Human Genome Research Institute (P50-HG003374, K01HG008180)
  • National Institute of General Medical Sciences (P01GM116691, U01GM092676)
Topics
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics and bioethics in healthcare
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Medical and Health Sciences Research
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
Keywords
precision medicine, pharmacogenomics, hereditary cancer predisposition, genetic testing, evidence base, implementation research, Consolidated Framework for Implementation Research, health care disparities, BRCA1/2 testing, Lynch syndrome, abacavir hypersensitivity, decision support, ethical considerations, diverse populations, implementation barriers, individualized care, rare genetic disorders
MeSH terms
Humans, Neoplasms, Pharmacogenetics, Practice Guidelines as Topic, Decision Support Systems, Clinical, Precision Medicine

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