Genetics patients' perspectives on clinical genomic testing
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Updated: Apr 27, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Michelle L McGowan1, Allison Glinka2, Janelle Highland3
1Department of Bioethics, Case Western Reserve University, Cleveland, OH, USA ; Center for Genetic Research Ethics & Law, Case Western Reserve University, Cleveland, OH, USA.
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.
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