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

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.

Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era

“…These findings are in line with results of a previous study analyzing how treatment for CF impacted prenatal counseling for this condition, when 81.5% of prenatal GCs felt that information about the new drug should be presented by a specialist (Elsas et al., 2017). Those authors cautioned that if a patient does not receive information about potential treatments during a GC session, they might make pregnancy management decisions without ever consulting a specialist or learning all available options (Elsas et al., 2017). The authors called for GCs to incorporate some discussion of treatment options in the prenatal setting, and for the community to consider the responsibilities and relationship between GCs and specialists in prenatal care (Elsas et al., 2017).…”

“…Those authors cautioned that if a patient does not receive information about potential treatments during a GC session, they might make pregnancy management decisions without ever consulting a specialist or learning all available options (Elsas et al., 2017). The authors called for GCs to incorporate some discussion of treatment options in the prenatal setting, and for the community to consider the responsibilities and relationship between GCs and specialists in prenatal care (Elsas et al., 2017). We reinforce this recommendation and encourage prenatal GCs to incorporate up‐to‐date information about SMA treatments into their practice.…”

Lived experiences of individuals with cystic fibrosis on CFTR-modulators

“…A study conducted by Elsas et al [ 5 ] explored prenatal genetic counselors’ attitudes about CFTR-modulators and the extent to which counselors were comfortable incorporating the effects of CFTR-modulators on individuals with CF into a counseling session. One hundred and fifty-seven prenatal genetic counselors were surveyed about how they thought a CFTR-modulator might influence an individual with CF’s physical health, psychological and emotional health, social functioning and personal goal fulfillment, treatment burden, and life expectancy.…”

“…The participants surveyed in this study thought that psychological and emotional health as well as social functioning and personal goal fulfillment were the least likely to be impacted by CFTR-modulators. One of the counselors surveyed commented: “the reason I would not discuss a lot of the psychological and social health aspects is because there is no research yet that shows the drug improves psychological health and social functioning” [ 5 , p. 69]. This revealed a gap in the literature regarding whether these therapies improve psychological health and social functioning.…”

The increasing challenge of genetic counseling for cystic fibrosis

“…A study of prenatal genetic counselors' preparedness to discuss CF with carrier couples found "the majority of counselors would 'definitely' discuss physical health (94.2%), life expectancy (86.4%) and treatment burden (70.8%), while less than a quarter would 'definitely' discuss psychological and emotional health (22.7%) or social functioning and personal goal fulfillment (24%)." Genetic counselors in prenatal settings often did not feel knowledgeable discussing newer CF treatments and expressed the need to refer to a CF specialist [25].…”