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Genetic Counselors’ Perspectives About Cell-Free DNA: Experiences, Challenges, and Expectations for Obstetricians

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

The expansion of cell-free fetal DNA (cfDNA) screening for a larger and diverse set of genetic variants, in addition for use among the low-risk obstetric population, presents important clinical challenges for all healthcare providers involved in the delivery of prenatal care. It is unclear how to leverage the different members of the healthcare team to respond to these challenges. We conducted interviews with 25 prenatal genetic counselors to understand their experience with the continued expansion of cfDNA screening. Participants supported the use of cfDNA screening for the common autosomal aneuploidies, but noted some reservations for its use to identify fetal sex and microdeletions. Participants reported several barriers to ensuring that patients have the information and support to make informed decisions about using cfDNA to screen for these different conditions. This was seen as a dual-sided problem, and necessitated additional education interventions that addressed patients seeking cfDNA screening, and obstetricians who introduce the concepts of genetic risk and cfDNA to patients. In addition, participants noted that they have a professional responsibility to educate obstetricians about cfDNA so they can be prepared to be gatekeepers of counseling and education about this screening option for use among the general obstetric population.

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Funding

This research was supported by NIH/NHGRI - R21HG008511.

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Authors and Affiliations

  1. Obstetrics, Gynecology and Women’s Health Institute, Cleveland Clinic, 9500 Euclid Avenue, A81, Cleveland, OH, 44195, USA

    Patricia K. Agatisa & Ruth M. Farrell

  2. Office of Patient Experience, Cleveland Clinic, Cleveland, OH, USA

    Mary Beth Mercer

  3. Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA

    Marissa Coleridge

  4. Center for Bioethics, Cleveland Clinic, Cleveland, OH, USA

    Ruth M. Farrell

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  1. Patricia K. Agatisa
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Contributions

Patricia K. Agatisa: Dr. Agatisa had substantial contributions to the conception and design of the work, analysis, and interpretation of the data for the work. She made substantial contributions to writing the manuscript and its revisions. She has agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Mary Beth Mercer: Ms. Mercer had substantial contributions to the conception and design of the work, and interpretation of the data for the work. She made substantial contributions to writing the manuscript and its revisions. She has agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Marissa Coleridge: Ms. Coleridge had substantial contributions to the conception and design of the work, and interpretation of the data for the work. She made substantial contributions to writing the manuscript and its revisions. She has agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Ruth M. Farrell: Dr. Farrell had substantial contributions to the conception and design of the work, analysis, and interpretation of the data for the work. She made substantial contributions to writing the manuscript and its revisions. She has agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

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Correspondence to Ruth M. Farrell.

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Conflict of Interest

The authors Patricia K. Agatisa, Mary Beth Mercer, Marissa Coleridge, and Ruth M. Farrell declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all study participants in a method approved of by the Cleveland Clinic Institutional Review Board.

Animal Studies

No animal studies were carried out by the authors for this article.

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This study was reviewed and received approval by the Cleveland Clinic Institutional Review Board.

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Agatisa, P.K., Mercer, M.B., Coleridge, M. et al. Genetic Counselors’ Perspectives About Cell-Free DNA: Experiences, Challenges, and Expectations for Obstetricians. J Genet Counsel 27, 1374–1385 (2018). https://doi.org/10.1007/s10897-018-0268-y

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