Why should genomic medicine become more evidence-based?

Khoury, Muin J.; Bradley, Linda

doi:10.1007/s11568-007-9015-4

Cited by 9 publications

(6 citation statements)

References 19 publications

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“…These limitations include the questionable clinical validity and lack of clinical utility for DTC genetic testing [11]. Additional concerns include the unknown ethical, legal, social, psychological, and behavioral impacts of this testing [5,7,12]. For example, we do not know whether or how people understand or use information obtained from DTC SNP testing, if people seeking SNP testing understand complex issues such as peiotropy or implications for family members or if test seekers recognize existing legal protections against genetic discrimination.…”

Section: Introductionmentioning

confidence: 99%

Interest in Genetic Testing for Modest Changes in Breast Cancer Risk: Implications for SNP Testing

Graves

Peshkin

Luta

et al. 2011

Public Health Genomics

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Background: Advances in genomics may eventually lead to ‘personalized genetic medicine,’ yet the clinical utility of predictive testing for modest changes in risk is unclear. We explored interest in genetic testing for genes related to modest changes in breast cancer risk in women at moderate to high risk for breast cancer. Methods: Women (n = 105) with a negative breast biopsy and ≧1 relative with breast or ovarian cancer completed telephone surveys. We measured demographic and psychosocial variables and, following presentation of hypothetical scenarios of genetic tests for lower-penetrance breast cancer gene mutations, assessed interest in willingness to pay for and comprehension of test results. We used logistic regression models with generalized estimating equations to evaluate combinations of risk level, cost and behavioral modifiers. Results: Many women (77%) reported ‘definite’ interest in genetic testing, with greater interest in tests that conveyed more risk and cost less. Behavioral modifiers of risk (taking a vitamin; diet/exercise), having a regular physician, greater perceived benefits of genetic testing, and greater cancer worry also influenced interest. Most participants (63%) did not understand relative vs. absolute risk. Women with less understanding reported more cancer worry and greater willingness to pay for testing. Conclusion: Interest in genetic testing for mutations related to modest changes in risk was high, modified by both test and psychosocial factors. Findings highlight the need for education about benefits and risks of testing for mutations that convey modest changes in risk, particularly given the current lack of clinical validity/utility and availability of direct-to-consumer genetic testing.

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Section: Introductionmentioning

confidence: 99%

Interest in Genetic Testing for Modest Changes in Breast Cancer Risk: Implications for SNP Testing

Graves

Peshkin

Luta

et al. 2011

Public Health Genomics

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“…One notable concern is that genetic risk information might prompt individuals to over-ascribe common health conditions to genetics, downplaying the contribution of well-known behavioral/environmental factors. Specifically, misinterpretation of genetic information may undermine public health efforts to promote the behavior change needed to prevent common health conditions [5,9]. For example, feedback of genetic test results may incline individuals to endorse pharmacological over behavioral modification options for risk reduction [10,11].…”

mentioning

confidence: 99%

Preferences for Genetic and Behavioral Health Information: The Impact of Risk Factors and Disease Attributions

et al. 2010

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Background Increased availability of genetic risk information may lead the public to give precedence to genetic causation over behavioral/environmental factors, decreasing behavior change motivation. Few population-based data inform these concerns. Purpose We assess the association of family history, behavioral risks, and causal attributions for diseases and the perceived value of pursuing information emphasizing health habits or genes. Method 1959 healthy adults completed a survey that assessed behavioral risk factors, family history, causal attributions of eight diseases, and health information preferences. Results Participants’ causal beliefs favored health behaviors over genetics. Interest in behavioral information was higher than in genetic information. As behavioral risk factors increased, inclination toward genetic explanations increased; interest in how health habits affect disease risk decreased. Conclusions Those at greatest need for behavior change may hold attributions that diminish interest in behavior change information. Enhancing understanding of gene-environment influences could be explored to increase engagement with health information.

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“…The implication of these questions of medical uncertainty, consent, confidentiality and access is to cast doubt on the immediate benefits of pharmacogenomic testing in this clinical situation. In reference to pharmacogenomics, Khoury and Bradley explain that "the premature introduction of technologies into healthcare settings could potentially overwhelm the health system financially, legally and ethically [62]". A stringent, proactive approach that recognizes the medical and ethical consequences of Ser9Gly testing alongside its potential contributions to patient care will be required.…”

Section: Discussionmentioning

confidence: 99%

Ethical and Policy Considerations in the Application of Pharmacogenomic Testing for Tardive Dyskinesia: Case Study of the Dopamine D3 Receptor

Shamy¹,

Zai²,

Basile³

et al. 2011

CPPM

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Tardive dyskinesia (TD) is a serious adverse effect often associated with the first generation antipsychotic medications used in the management of mental health disorders such as schizophrenia. Pharmacogenomics is the study of human genomic variation in relation to individual and population variability in medication response and side effects. Neuropsychiatry is one of the clinical domains in which pharmacogenomic approaches have been extensively studied. In the late 1990s, the Glycine9 (Gly9) allele of the Serine-9-Glycine (Ser9Gly) polymorphism in dopamine D3 receptor gene (DRD3) was found to be associated with both a liability to, and worsened severity of, TD in schizophrenic patients treated with typical antipsychotics. This initial discovery has been subsequently replicated and testing for the Ser9Gly polymorphism has now become commercially available. The question that currently presents itself is whether its use should be encouraged for patients who may be prescribed a typical or atypical antipsychotic medication. However, the translation of this new technology to clinical practice presents multiple social, ethical and policy challenges. Though pharmacogenomic testing holds much promise in this scenario, many important questions remain to be answered before its widespread use can be medically and ethically justified. This article highlights the key advances in our understanding of the role of human genetic variation in the D3 receptor in relation to TD. Then, issues of uncertainty, consent, confidentiality, and access are considered with respect to the use of DRD3 polymorphism testing in risk stratification for susceptibility to tardive dyskinesia. We propose three recommendations that may help bring this technology into the clinic: 1) prospective pharmacogenomic studies of DRD3 polymorphism and TD risk should be conducted; 2) the design of such studies should be influenced by scientists, ethicists and policy makers to protect potentially vulnerable patients; and 3) appropriate knowledge transfer to front-line health care workers must take place.

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Why should genomic medicine become more evidence-based?

Cited by 9 publications

References 19 publications

Interest in Genetic Testing for Modest Changes in Breast Cancer Risk: Implications for SNP Testing

Interest in Genetic Testing for Modest Changes in Breast Cancer Risk: Implications for SNP Testing

Preferences for Genetic and Behavioral Health Information: The Impact of Risk Factors and Disease Attributions

Ethical and Policy Considerations in the Application of Pharmacogenomic Testing for Tardive Dyskinesia: Case Study of the Dopamine D3 Receptor

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