Journal of Genetic Counseling

, Volume 26, Issue 1, pp 63–71 | Cite as

Attitudes Toward Discussing Approved and Investigational Treatments for Cystic Fibrosis in Prenatal Genetic Counseling Practice

  • Caroline Rung ElsasEmail author
  • Elinor Langfelder Schwind
  • Laura Hercher
  • Michael J. Smith
  • Kara Gardner Young
Original Research


This project aimed to explore the attitudes of prenatal genetic counselors toward discussion of novel approved and experimental CF treatments in the prenatal setting, and to assess how knowledge of genotype-specific, targeted treatments may influence their current practices. Targeted treatments have the potential to impact the health-related quality of life of individuals affected with CF and therefore, knowledge of the availability of such treatments may influence the decision-making process of parents who receive a fetal diagnosis of CF. Using the 2012 FDA approval and introduction of ivacaftor into CF clinical practice as a case study, a survey was designed to explore the opinions and practices of prenatal genetic counselors with regard to counseling for a prenatal diagnosis of CF, and how those practices might be impacted by the availability of a new genotype-specific treatment. Approximately 800 genetic counselors were sent questionnaires in January of 2013. Respondents were provided information about this treatment and were asked to rate its perceived benefits, along with the likelihood that they would discuss potential benefits and limitations with parents receiving a prenatal diagnosis of CF. One-hundred sixty-nine prenatal genetic counselors (21.1 %) responded to the survey. Results indicated that 80 % of respondents ‘never heard of the drug’, or they were ‘not exactly sure’ what it was. After reading the materials provided, counselors felt the new treatment would have ‘some’ or a ‘significant’ impact on an affected individual’s life. Their opinions varied on what information about this treatment they would choose to discuss with their patients; even if the treatment is currently FDA approved and clinically available for affected individuals with the genotype of the fetus. However, they would ‘definitely’ refer these patients to a specialist to discuss targeted treatments further. Most prenatal genetic counselors indicated there are certain scenarios in the prenatal setting which warrant a discussion of targeted treatments for CF, at least on some level. Counselor’s views on sharing information about new treatment options are shaped by their familiarity with the treatment and their perception of its benefits and limitations, their comfort discussing these subjects, and their interpretation of the genetic counselor’s role. Most genetic counselors had never heard of ivacaftor or Kalydeco™ prior to taking the survey. Therefore, counselors need to be better educated about the availability of CFTR mutation-based treatments before they will be able to incorporate discussion of new treatment options into their counseling.


Cystic fibrosis Personalized medicine Targeted treatments Ivacaftor Prenatal genetic counseling 


Compliance with Ethical Standards

Conflict of Interest

None of the authors have any personal affiliation or financial interest in Vertex Pharmaceuticals, manufacturer of ivacaftor, or in any other manufacturer of cystic fibrosis treatments.

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).

Animal Studies

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


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Copyright information

© National Society of Genetic Counselors, Inc. 2016

Authors and Affiliations

  • Caroline Rung Elsas
    • 1
    Email author
  • Elinor Langfelder Schwind
    • 2
  • Laura Hercher
    • 1
  • Michael J. Smith
    • 1
  • Kara Gardner Young
    • 2
  1. 1.Sarah Lawrence CollegeBronxvilleUSA
  2. 2.Mount Sinai Beth IsraelNew YorkUSA

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