Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing.
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.
Department of Medical Genetics, Kaiser Permanente Northwest, Portland, OR, USA. marian.j.gilmore@kp.org.
Marian J
MJ
Gilmore
Center for Health Research, Kaiser Permanente Northwest, Portland, OR, USA.
Jennifer
J
Schneider
Center for Health Research, Kaiser Permanente Northwest, Portland, OR, USA.
James V
JV
Davis
Center for Health Research, Kaiser Permanente Northwest, Portland, OR, USA.
Tia L
TL
Kauffman
Center for Health Research, Kaiser Permanente Northwest, Portland, OR, USA.
Michael C
MC
Leo
Center for Health Research, Kaiser Permanente Northwest, Portland, OR, USA.
Kellene
K
Bergen
Center for Health Research, Kaiser Permanente Northwest, Portland, OR, USA.
Jacob A
JA
Reiss
Department of Medical Genetics, Kaiser Permanente Northwest, Portland, OR, USA.
Patricia
P
Himes
Department of Medical Genetics, Kaiser Permanente Northwest, Portland, OR, USA.
Elissa
E
Morris
Center for Health Research, Kaiser Permanente Northwest, Portland, OR, USA.
Carol
C
Young
Center for Health Research, Kaiser Permanente Northwest, Portland, OR, USA.
Carmit
C
McMullen
Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, WA, USA.
Benjamin S
BS
Wilfond
Center for Health Research, Kaiser Permanente Northwest, Portland, OR, USA.
Katrina A B
KAB
Goddard
D000328:Adult; D003657:Decision Making; D005193:Family Planning Services / Q000379:methods; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling / Q000379:methods / Q000523:psychology*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D016742:Preconception Care / Q000379:methods*; D011795:Surveys and Questionnaires
Declining genetic testing; Genome sequencing; Genomic medicine; Patient testing decisions; Preconception expanded carrier screening; Qualitative research; Reproductive decisions