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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing.

Marian J Gilmore¹, Jennifer Schneider², James V Davis²

¹Department of Medical Genetics, Kaiser Permanente Northwest, Portland, OR, USA. marian.j.gilmore@kp.org.

Journal of Genetic Counseling

|March 19, 2017

Summary

This summary is machine-generated.

Many individuals declined preconception genomic carrier screening due to practical concerns like time or anxiety, not disagreement with the testing

Keywords:

Declining genetic testing Genome sequencing Genomic medicine Patient testing decisions Preconception expanded carrier screening Qualitative research Reproductive decisions

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Area of Science:

Reproductive genetics
Genetic counseling
Patient decision-making

Background:

Genomic carrier screening offers broader variant identification compared to traditional methods.
The patient perspective on the utility of genomic carrier screening remains underexplored.

Purpose of the Study:

To investigate patient reasons for declining preconception genomic carrier screening.
To understand the factors influencing uptake of advanced genetic testing.

Main Methods:

A survey was administered to individuals who declined participation in a genomic carrier screening trial (N=240).
Qualitative analysis identified major themes for declining the screening.

Main Results:

Two-thirds of eligible women declined participation.
Primary reasons for declining included time constraints, lack of interest, and concerns about potential anxiety or unwanted information.
Most declines were attributed to logistical factors rather than opposition to genetic testing.

Conclusions:

Patient uptake of genomic carrier screening is variable and influenced by practical considerations.
Future implementation of expanded carrier screening and genomic sequencing requires approaches that accommodate individual choices and logistical barriers.