Date of Award

5-2021

Document Type

Thesis - Open Access

Degree Name

MS in Human Genetics

First Advisor

Chantal Duteau Buck, MS, CGC

Abstract

Cystic fibrosis (CF) care has rapidly evolved over the past decade due to the introduction of CFTR modulators and continued quality improvement efforts, yet research from 2013 suggests that prenatal genetic counselors often did not feel knowledgeable discussing newer CF treatments with patients and expressed the need to refer to a CF specialist (Elsas, 2017). Given that the intervening years have allowed for collection of long-term data about CFTR modulators and that the recently approved modulator Trikafta (tez/elx/iva) is available to 90% of the CF population, it is appropriate to re-evaluate the status of prenatal genetic counselors’ awareness of and attitudes towards discussing newly approved treatments with patients. The present study aimed to gather that information and toanalyze how likely counselors were to discuss quality of life and treatment of CF with prospective parents experiencing a prenatal diagnosis of CF. Members of the NSGC Prenatal Special Interest Group (N=866) were provided with information about the status of currently approved CFTR modulators and assessed before and after viewing the information. They were presented with clinical scenarios and asked to rate their perceived impact of CF and CF treatments along with the likelihood that they would discuss potential benefits and limitations with parents experiencing a prenatal diagnosis. Of the 866 members surveyed, 53 (6.12%) completed the questionnaire. Results indicated that nearly all (98.11%) respondents had heard of CFTR modulators and were not concerned about instilling false hope (84.9%) when discussing them with prenatal patients. The majority agreed that providing information about Trikafta (elx/tez/iva) could affect pregnancy management decisions (58.49%). Compared to most respondents (79.25%) who would discuss the availability of gene therapies for genetic conditions such as SMA and sickle cell disease, only about half of respondents would mention Trikafta (tez/elx/iva) to patients directly but would refer patients to a CF specialist. These data suggest that even when prenatal genetic counselors are familiar with new CF treatment options, they are influenced by their perceived impact of those treatments and their understanding of a genetic counselor’s role. Further clinical guidance regarding discussion of newly approved CF treatments as well as the development of clear definitions of specialty roles within the genetic counseling field are needed.

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