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Research Article

Genetics Patients‘ Perspectives on Clinical Genomic Testing

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Pages 339-347 | Published online: 06 Jun 2013
 

Abstract

Aims: Advances in next-generation sequencing technologies make it possible to envisage multiple contexts in which genomic tools might be used to enhance patient care. We describe how genetics patients and their caregivers view the promises and perils of clinical genomic testing. Patients&methods: Fifty-one interviews with patients and parents of pediatric patients seeking genetic evaluation at an academic medical center. Results: Themes from interviews include participants‘ enthusiasm for clinical genomic testing for diagnostic purposes, medical benefits and concerns about emotional and psychosocial burdens resulting from clinical genomic testing. Conclusion: By clarifying these patients‘ and caregivers‘ views of clinical genomic testing, the findings we report can help to anticipate other patients‘ reactions to new forms of personalized medicine enabled by genomic technologies.

Acknowledgements

The authors thank D Cho and K Snover for their assistance in preparing this manuscript.

Disclaimer

The content is solely the responsibility of the authors and does not represent the official views of the National Human Genome Research Institute or NIH.

Financial&competing interests disclosure

This research was supported by grants from the National Human Genome Research Institute, NIH (R01-HG004500 and P50-HG003390). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The authors state that they have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. In addition, for investigations involving human subjects, informed consent has been obtained from the participants involved.

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