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Noninvasive Prenatal Whole Genome Sequencing

Pregnant Women's Views and Preferences

Sullivan, Haley K., BS; Bayefsky, Michelle, BA; Wakim, Paul G., PhD; Huddleston, Kathi, PhD; Biesecker, Barbara B., PhD; Hull, Sara Chandros, PhD; Berkman, Benjamin E., JD, MPH

doi: 10.1097/AOG.0000000000003121
Contents: Genetics: Original Research
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OBJECTIVE: To assess pregnant women's views and preferences on noninvasive prenatal whole genome sequencing.

METHODS: A survey was offered to 805 pregnant women receiving prenatal care in practices affiliated with a large, tertiary care maternity hospital. Respondents were asked to envision undergoing prenatal whole genome sequencing and discuss their preferences and reasons for receiving different categories of genomic results, organized by actionability, severity, prevalence, and age of onset. The survey also queried respondents on their preferred role for clinicians in prenatal whole genome sequencing decision-making, and on their demographics and genetic literacy.

RESULTS: From June to August 2017, a total of 553 respondents returned the survey (response rate=68.7%). Respondents were most likely to want information regarding serious treatable childhood-onset conditions (89.7%) and least likely to want to receive information about nonmedical traits from prenatal whole genome sequencing (40%). The most frequently cited reason for wanting medical prenatal whole genome sequencing results was “to prepare financially, medically, or psychologically for a child with special needs.” In total, 10.5% of respondents wanted clear recommendations from clinicians about the categories of information that are most appropriate to test for, 44.7% wanted clear recommendations plus all options presented, 26.2% wanted all options presented and joint decision-making, and 13.2% wanted all options presented and independent decision-making.

CONCLUSION: Respondents generally preferred to receive all categories of genetic results pertaining to medical conditions and wanted the information to prepare. More than half of respondents wanted (at minimum) clear recommendations from clinicians when deciding which prenatal whole genome sequencing results to receive.

Pregnant women generally want to receive results pertaining to medical information from prenatal whole genome sequencing and want clinician input when deciding what results to receive.

National Institutes of Health Clinical Center and National Human Genome Research Institute, Bethesda, Maryland; Harvard Medical School, Boston, Massachusetts; INOVA Translational Medicine Institute, Falls Church, Virginia; and RTI International, Research Triangle Park, North Carolina.

Corresponding author: Benjamin E. Berkman, JD, MPH, Department of Bioethics (Clinical Center), Bioethics Core, National Human Genome Research Institute, National Institutes of Health, Building 10/Room 1C141, 10 Center Drive, MSC 1156, Bethesda, MD 20892; email: berkmanbe@mail.nih.gov.

Supported by the Intramural Research Program of the National Human Genome Research Institute and the Clinical Center Department of Bioethics, National Institutes of Health.

Financial Disclosure The authors did not report any potential conflicts of interest.

The authors thank Emily Jung for help with data entry, Alma Fuller and Faith Bashore for help setting up and administering the survey, and the NIH Department of Bioethics for helpful comments on this project.

The views herein are those of the authors and do not represent the views or policies of the Department of Health and Human Services or the National Institutes of Health. This research was supported by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health.

Each author has confirmed compliance with the journal's requirements for authorship.

Peer reviews and author correspondence are available at http://links.lww.com/AOG/B282.

© 2019 by the American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved.