Abstract
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.
Similar content being viewed by others
References
Abbott, J., Elborn, J. S., Georgiopoulos, A. M., Goldbeck, L., Marshall, B. C., Sabadosa, K. A., et al. (2015). Cystic Fibrosis Foundation and European cystic fibrosis society survey of cystic fibrosis mental health care delivery. Journal of cystic fibrosis. pii, S1569-1993(14), 00312–00319. doi:10.1016/j.jcf.2014.12.015 [Epub ahead of print].
ACOG (The American College of Obstetricians and Gynecologists). (2011). Update on carrier screening for cystic fibrosis. Committee Opinion #486.
Baker, H. M., Brown, R. L., Tluczek, A. (2013). Development and validation of a cystic fibrosis genetic knowledge questionnaire within the general population of the United States. Journal of Cystic Fibrosis, 12(5), 504–511.
Balfour-Lynn, I. M. (2014). Personalised medicine in cystic fibrosis is unaffordable. Paediatric Respiratory Reviews, 15(1), 2–5.
Barrett, P. M., Alagely, A., & Topol, E. J. (2012). Cystic fibrosis in an era of genomically guided therapy. Human Molecular Genetics, 21(1), 66.
Bobadilla, J. L., Macek Jr., M., Fine, J. P., & Farrell, P. M. (2002). Cystic fibrosis: a worldwide analysis of CFTR mutations–correlation with incidence data and application to screening. Human Mutation, 19(6), 575–606.
Boyle, M. P., Bell, S. C., Konstan, M. W., McColley, S. A., S.M., R., Rietschel, E., et al. (2014). A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. The Lancet Respiratory Medicine, 2(7), 527–538.
Bradley, J. M., Blume, S. W., Balp, M. M., Honeybourne, D., & Elborn, J. S. (2013). Quality of life and healthcare utilisation in cystic fibrosis: a multicentre study. The European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology, 41(3), 571–577.
Britto, M. T., Kotagal, U. R., Hornung, R. W., Atherton, H. D., Tsevat, J., & Wilmott, R. W. (2002). Impact of recent pulmonary exacerbations on quality of life in patients with cystic fibrosis. Chest, 121(1), 64–72.
CFF (Cystic Fibrosis Foundation). (2014). Cystic fibrosis foundation patient registry 2013 annual data report. Maryland. Cystic Fibrosis Foundation: Bethesda.
Clancy, J. P., Rowe, S. M., Accurso, F. J., Aitken, M. L., Amin, R. S., Ashlock, M. A., et al. (2011). Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. Thorax, 67(1), 12–18.
Cohen, M. A., Ribeiro, M. A., Ribeiro, A. F., Ribeiro, J. D., & Morcillo, A. M. (2011). Quality of life assessment in patients with cystic fibrosis by means of the cystic fibrosis questionnaire. Jornal Brasileiro De Pneumologia: Publicacao Oficial Da Sociedade Brasileira De Pneumologia e Tisilogia, 37(2), 184–192.
De Boeck, K., Munck, A., Walker, S., Faro, A., Hiatt, P., Gilmartin, G., et al. (2014). Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation. Journal of Cystic Fibrosis, 13(6), 674–680.
Flume, P. A., & Van Devanter, D. R. (2012). State of progress in treating cystic fibrosis respiratory disease. BMC Medicine, 10, 88–7015–10-88.
Ioannou L, Delatycki MB, Massie J, Hodgson J, Lewis S. (2015) Suddenly having two positive people who are carriers is a whole new thing- experiences of couples both identified as carriers of cystic fibrosis through a population-based carrier screening program in Australia. Journal of Genetic Counseling. [Epub ahead of print].
Kerem, E., Konstan, M. W., De Boeck, K., Accurso, F. J., Sermet-Gaudelus, I., Wilschanski, M., et al. (2014). Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. The Lancet. Respiratory Medicine, 2(7), 539–547.
Massie, J., Castellani, C., & Grody, W. W. (2014). Carrier screening for cystic fibrosis in the new era of medications that restore CFTR function. The Lancet, 383(9920), 923–925.
NSGC (National Society of Genetic Counselors). (2012). Professional Status Survey. Retrieved 2013, January 4 from www.nsgc.org.
National Society of Genetic Counselors’ Definition Task Force [Resta R, Biesecker BB, Bennett R.L., Blum S, Hahn S.E., Strecker M.N., Williams J.L (2006). A new definition of genetic counseling: National Society of genetic counselors’ task force report. Journal of Genetic Counseling, 15(2), 77–83.
Quittner, A. L., Buu, A., Messer, M. A., Modi, A. C., & Watrous, M. (2005). Development and validation of the cystic fibrosis questionnaire in the United States: a health-related quality-of-life measure for cystic fibrosis. Chest, 128(4), 2347–2354.
Ramsey, B. W., Davies, J., McElvaney, N. G., Tullis, E., Bell, S. C., Drevinek, P., et al. VX08–770-102 Study Group. (2011). A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. The New England Journal of Medicine, 365(18), 1663–1672.
Ratjen, F. (2009). Update in cystic fibrosis 2008. American Journal of Respiratory and Critical Care Medicine, 179(6), 445–448.
Sebro R, Levy H, Schneck K, Dimmock D, Raby B.A., Cannon C.L., Broeckel U, Risch N.J (2012). Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency. Clinical Genetics, 82(6), 546–551.
Sosnay, P. R., Siklosi, K. R., Van Goor, F., Kaniecki, K., Yu, H., Sharma, N., et al. (2013). Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nature Genetics, 45(10), 1160–1167.
Vertex (2012). Kalydeco: Highlights of prescribing information. Retrieved 2013, January 4 From www.Kalydeco.com.
Yu, H., Burton, B., Huang, C. J., Worley, J., Cao, D., J.P. Jr., J., et al. (2012). Ivacaftor potentiation of multiple CFTR channels with gating mutations. Journal of Cystic Fibrosis, 11(3), 237–245.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
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.
Rights and permissions
About this article
Cite this article
Elsas, C.R., Schwind, E.L., Hercher, L. et al. Attitudes Toward Discussing Approved and Investigational Treatments for Cystic Fibrosis in Prenatal Genetic Counseling Practice. J Genet Counsel 26, 63–71 (2017). https://doi.org/10.1007/s10897-016-9978-1
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10897-016-9978-1