Preserving personal autonomy in a genomic testing era

Lindor, Noralane M.; Johnson, Kiley J.; McCormick, Jennifer B.; Klee, Eric W.; Ferber, Matthew J.; Farrugia, Gianrico

doi:10.1038/gim.2013.24

Cited by 14 publications

(11 citation statements)

References 2 publications

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“…So-called negative results did not determine patient attitudes. This fact contrasts importantly with a common equation by medical professionals of success with clinical actionability, giving cost some consideration as well (Sanderson et al 2005;Green et al 2013;Berg et al 2011;Lindor et al 2013). Rather than merely on a calculus of clinically actionable outcomes and costs (Bunnik et al 2014;Grosse Scott and Muin Khoury 2006;Porter 2010), patients based the value of genomic sequencing on psychosocial outcomes as well.…”

Section: Discussionmentioning

confidence: 99%

“…Genomic-based individualized medicine is increasingly becoming incorporated into clinical care. Medical professionals who use this new tool often equate the utility of genomic sequencing with the clinical actionability of its results (Sanderson et al 2005;Green et al 2013;Berg et al 2011;Lindor et al 2013). The usefulness of sequencing in the eyes of these professionals tends to depend on their ability not merely to make meaning of the test results (analytical utility) but also to act on them for the benefit of the patient (clinical utility or medically actionable).…”

Section: Introductionmentioning

confidence: 99%

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Was it worth it? Patients’ perspectives on the perceived value of genomic-based individualized medicine

2016

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The value of genomic sequencing is often understood in terms of its ability to affect diagnosis or treatment. In these terms, successes occur only in a minority of cases. This paper presents views from patients who had exome sequencing done clinically to explore how they perceive the utility of genomic medicine. The authors used semi-structured, qualitative interviews in order to study patients' attitudes toward genomic sequencing in oncology and rare-disease settings. Participants from 37 cases were interviewed. In terms of the testing's key values-regardless of having received what clinicians described as meaningful results-participants expressed four qualities that are separate from traditional views of clinical utility: Participants felt they had been empowered over their own health. They felt they had contributed altruistically to the progress of genomic technology in medicine. They felt their suffering had been legitimated. They also felt a sense of closure, having done everything they could. Patients expressed overwhelmingly positive attitudes toward sequencing. Their rationale was not solely based on the results' clinical utility. It is important for clinicians to understand this non-medical reasoning as it pertains to patient decision-making and informed consent.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Was it worth it? Patients’ perspectives on the perceived value of genomic-based individualized medicine

2016

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“…In an ethical deliberation of the role of disease characteristics in the disclosure of personal genome testing results, Bunnik et al [5] identified 4 relevant disease characteristics in susceptibility testing as follows: severity, actionability, age of onset, and psychiatric versus somatic diseases. Our team at the Mayo Center for Individualized Medicine also undertook a multidisciplinary binning process which was briefly compared/contrasted to Berg's bins, demonstrating overlap but also differences [6]. …”

Section: Introductionmentioning

confidence: 99%

Public Perceptions of Disease Severity but Not Actionability Correlate with Interest in Receiving Genomic Results: Nonalignment with Current Trends in Practice

Graves

Sinicrope²,

McCormick³

et al. 2015

Public Health Genomics

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Purpose: Frameworks highlighting disease actionability and severity are evolving to address the need to organize results from genome-wide analyses. This approach represents a paradigm shift from consultations focused on one or more genes to multiple genes for multiple disorders. Empirical input from the general population is lacking, yet seems essential for understanding how to maximize patient autonomy and satisfaction in the decision-making process. Methods: We conducted a cross-sectional online survey with a representative sample of 900 US adults and assessed the participants' perceptions and attitudes toward disease actionability and severity, ranking hypothetical scenarios for these properties, and explored correlations with interest in learning test results. Results: Most respondents (>85%) rated actionability and severity as useful concepts; 46.6% indicated actionability alone would be adequate for decision making. Over half of them (53.8%) reported being very/extremely confident in their ability to score for actionability and severity. The participants' scoring of medical scenarios varied significantly between individuals. Scores for severity but not actionability were correlated with interest in learning genetic results. Subsets of the respondents projected wanting all results (30%) or no results (16%). The use of expert-created lists was acceptable to 43%. Conclusions: The respondents from the general population were confident in making their own decisions. The responses suggested different priorities than current expert-driven approaches. The emphasis on binning genes may be missing a complementary, simplifying approach of grouping patients based upon their all/none interest in genomic results. This study illuminates important differences between the general public and genetic experts.

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“…Of course, this situation is modeled and the law enforcement agencies of most states do not have formal grounds for refusing to hire such a person. However, there are such cases in practice [32], and they can violate the confidentiality of information on the results of the human genome diagnostics. Such confidential information can be disclosed in many ways: from mere data exchange between different laboratories or organizations required for the research [33] to the illegal collection of these data and subsequent speculation for mercenary purposes.…”

Section: Legal Problems Of Protecting Information About the Human Genomementioning

confidence: 99%

Defining Practical Importance of Introducing Limitations into the Genome Editing Procedure

Vasilyev*,

Burtsev,

Osavelyuk

et al. 2019

IJEAT

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 Abstract: In this article the practical importance of introducing limitations into the genome editing procedure is considered. Diagnostics and editing of the genome provided great opportunities for counteracting many rather serious diseases. However, such clinical work can radically affect a person and his/her further development. In this regard, it is important to balance between the ethical and reasonable component that should be reflected in regulatory legal acts that determine limitations for misuse. In the context of maintaining legal, organizational and other ethical limitations, it is necessary to define their reasonable boundaries for the further development of science and, accordingly, medical care for the population. When writing this article, the methods of collecting and studying singularities, the generalization methods, the scientific abstraction methods, as well as the method of inquiry into regularities have been used. In the study it has been concluded that the genome editing naturally generates information about each test subject or patient that must be efficiently protected and rationally used in the future. That is why it is reasonable to start developing limitations aimed at specific gene therapy procedures, in terms of the inadmissibility of intervention in the development of the fetus at the late stages of its growth, which can also be a subject for the further scientific research. Index Terms: genome diagnostics, genome editing, genomic research, legal regulation of genome, limitations of genomic research, use of genome in medicine.

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Preserving personal autonomy in a genomic testing era

Cited by 14 publications

References 2 publications

Was it worth it? Patients’ perspectives on the perceived value of genomic-based individualized medicine

Was it worth it? Patients’ perspectives on the perceived value of genomic-based individualized medicine

Public Perceptions of Disease Severity but Not Actionability Correlate with Interest in Receiving Genomic Results: Nonalignment with Current Trends in Practice

Defining Practical Importance of Introducing Limitations into the Genome Editing Procedure

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