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Pregnant Genetic Counselors in an Era of Advanced Genomic Tests: What Do the Experts Test Prenatally?

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Advanced genomic tests in pregnancy, such as chromosomal microarray analysis (CMA), provide higher detection rates yet often produce probabilistic and uncertain information. This study aimed to understand how the most knowledgeable patients, i.e., pregnant genetic counselors, act in their own pregnancies, thereby gaining insight into the impact of patients’ knowledge on the diagnostic process. Seventeen interviews were conducted with Israeli genetic counselors, either pregnant or up to 2 years post-pregnancy. A third of the participants chose not to have CMA while two thirds underwent it despite no detected abnormalities. Although knowledge was the main motivation, counselors varied in the desired degree of information. Two thirds of those opting for CMA wished to have all findings identified whereas roughly one third asked for a targeted platform seeking to avoid uncertain results. Counselors were not quick to adopt new tests such as whole-exome sequencing. Being knowledgeable was described as promoting a sense of control yet also being a source of stress and moral dilemmas. While the basic premise of informed consent is crucial, it does not always make things easier for educated patients. Consequently, raising levels of patient knowledge is only a limited step forward in the search for best practice.

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Author information

Authors and Affiliations

  1. Department of Genetics and Metabolic Diseases, Hadassah Hebrew University Medical Center, 91120, Jerusalem, Israel

    Shiri Shkedi-Rafid

  2. School of Government and Society, Academic College of Tel Aviv-Yaffo, Tel Aviv-Yaffo, Israel

    Yael Hashiloni-Dolev

Authors
  1. Shiri Shkedi-Rafid
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  2. Yael Hashiloni-Dolev
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Correspondence to Shiri Shkedi-Rafid.

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Conflict of Interest

Shiri Shkedi-Rafid and Yael Hashiloni-Dolev 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). Consent was obtained from all individual participants included in the study. Ethics approval was granted by the Hadassah Medical Center Research Ethics Committee. Reference 0599-17-HMO.

Animal Studies

This article does not contain any studies with animals performed by any of the authors.

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Shkedi-Rafid, S., Hashiloni-Dolev, Y. Pregnant Genetic Counselors in an Era of Advanced Genomic Tests: What Do the Experts Test Prenatally?. J Genet Counsel 27, 1167–1174 (2018). https://doi.org/10.1007/s10897-018-0234-8

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  • DOI: https://doi.org/10.1007/s10897-018-0234-8

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