# Current State of Pharmacogenomic Implementation Into Care for Persons With Cystic Fibrosis

## TL;DR

This study explores how often genetic testing is used in cystic fibrosis care in the U.S., finding it is rarely used beyond CFTR genes.

## Contribution

The paper provides the first survey-based assessment of pharmacogenomic testing adoption in cystic fibrosis care centers.

## Key findings

- Only 4% of respondents reported using pharmacogenomic testing beyond CFTR genes.
- 89% of respondents stated they were not using PGx for drug-gene pairs beyond CFTR.
- Providers expressed openness to using PGx to improve care despite limited current implementation.

## Abstract

Cystic fibrosis (CF) was once a fatal disease of childhood, but with advances in combination CFTR modulator therapies, life expectancy for persons with CF (PwCF) has increased. Despite remarkable improvements in life expectancy, CF is a chronic multiple organ system disease and comorbidities characterized by recurrent respiratory infections, pancreatic insufficiency, diabetes, liver disease, depression, anxiety, and bone disease resulting in exposure to many drugs. The Clinical Pharmacogenetics (PGx) Implementation Consortium (CPIC) publishes evidence‐based guidelines for use of PGx to guide dosing for drug−gene interactions. This study aimed to assess the current use of PGx testing in CF care at CF Foundation‐accredited care centers and affiliate programs (CFF‐ACCAP) across the United States. A 14‐item survey was distributed electronically to CF Foundation‐accredited care centers and affiliate programs in the United States using the CF Foundation email exchange. Overall, 74 responses were received from a potential of the 287 CFF‐ACCAP. Since each individual CFF‐ACCAP may have had multiple team members who could have received and responded to the survey, it is possible that these responses include multiple respondents from a single center. Only eight (4%) respondents affirmed they were obtaining PGx testing beyond cystic fibrosis transmembrane conductance regulator (CFTR) and 66 (89%) respondents answered that they were not currently doing PGx for drug−gene pairs beyond CFTR. Based on this landscape survey, PGx is not commonly implemented in US CFF‐ACCAP, but providers are open to using PGx to improve care in PwCF. Several barriers limit the implementation of PGx in CFF‐ACCAP, which calls for guidance on how to effectively integrate PGx into CF clinical care.