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J Genet Couns. 2017 Oct;26(5):971-979. doi: 10.1007/s10897-017-0074-y. Epub 2017 Mar 17.

Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing.

Author information

1
Department of Medical Genetics, Kaiser Permanente Northwest, Portland, OR, USA. marian.j.gilmore@kp.org.
2
Center for Health Research, Kaiser Permanente Northwest, Portland, OR, USA.
3
Department of Medical Genetics, Kaiser Permanente Northwest, Portland, OR, USA.
4
Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, WA, USA.

Abstract

Genomic carrier screening can identify more disease-associated variants than existing carrier screening methodologies, but its utility from patients' perspective is not yet established. A randomized controlled trial for preconception genomic carrier screening provided an opportunity to understand patients' decisions about whether to accept or decline testing. We administered a survey to potential genomic carrier screening recipients who declined participation (N = 240) to evaluate their reasons for doing so. Two thirds of women declined participation. We identified major themes describing reasons these individuals declined to participate; the most common were time limitation, lack of interest, not wanting to know the information, and potential cause of worry or anxiety. Most women eligible for genomic carrier screening indicated that their reasons for opting out were due to logistical issues rather than opposing the rationale for testing. As expanded carrier screening and genomic sequencing become a more routine part of clinical care, it is anticipated there will be variable uptake from individuals for this testing. Thus, the advancement of clinical carrier screening from single genes, to expanded screening panels, to an exome- or genome-wide platform, will require approaches that respect individual choice to receive genetic testing for reproductive risk assessment.

KEYWORDS:

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

PMID:
28315134
PMCID:
PMC5601030
DOI:
10.1007/s10897-017-0074-y
[Indexed for MEDLINE]
Free PMC Article

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