Effective modulator treatments now available for most people will probably add years to their lives
The report by Lin and colleagues in this issue of the Journal on cystic fibrosis diagnosed during adulthood1 is a timely reminder of the importance of the disorder. More than 4000 people in Australia have cystic fibrosis,2 and one in 25 carry disease‐relevant gene mutations.3 Further, despite routine screening of newborns, clinical diagnosis remains important, and late diagnosis is associated with lower life expectancy.4 Finally, new therapies that target its genetic bases substantially improve outcomes for patients.5
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- 1. Lin A, Wong K, Visser SK, et al. Diagnosis of cystic fibrosis in adults: Australian Cystic Fibrosis Data Registry data, 2000–2019. Med J Aust 2023; 218: 138‐139.
- 2. Ruseckaite R, Salimi F, Earnest A, et al. Survival of people with cystic fibrosis in Australia. Sci Rep 2022; 12: 19748.
- 3. Bobadilla JL, Macek M, Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations. Correlation with incidence data and application to screening. Hum Mutat 2002; 19: 575‐606.
- 4. Jain R. Diagnosing cystic fibrosis in adults: better late than never. Ann Am Thorac Soc 2018; 15: 1140‐1141.
- 5. Keating D, Marigowda G, Burr L, et al. VX‐445–tezacaftor–ivacaftor in patients with cystic fibrosis and one or two Phe508del alleles. N Engl J Med 2018; 379: 1612‐1620.
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- 7. Chillón M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995; 332: 1475‐1480.
- 8. Farrell PM, White TB, Ren CL, et al. Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr 2017; 181 (Suppl): S4‐S15.
- 9. Massie J, Clements B; Australian Paediatric Respiratory Group. Diagnosis of cystic fibrosis after newborn screening: the Australasian experience: twenty years and five million babies later: a consensus statement from the Australasian Paediatric Respiratory Group. Pediat Pulmonol 2005; 39: 440‐446.
- 10. Massie RJ, Curnow L, Glazner J, et al. Lessons learned from 20 years of newborn screening for cystic fibrosis. Med J Aust 2012; 196: 67‐70. https://www.mja.com.au/journal/2012/196/1/lessons‐learned‐20‐years‐newborn‐screening‐cystic‐fibrosis
- 11. Mishra A, Greaves R, Massie J. The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era. Clin Biochem Rev 2005; 26: 135‐153.
- 12. Sosnay PR, Salinas DB, White TB, et al. Applying cystic fibrosis transmembrane conductance regulator genetics and CFTR2 data to facilitate diagnoses. J Pediatr 2017; 181 (Suppl): S27‐S32.
- 13. Department of Health and Aged Care. Landmark PBS listing for Australians with cystic fibrosis [media release]. 27 Mar 2022. https://www.health.gov.au/ministers/the‐hon‐greg‐hunt‐mp/media/landmark‐pbs‐listing‐for‐australians‐with‐cystic‐fibrosis (viewed Jan 2023).
- 14. Burgel PR, Durieu I, Chiron R, et al; French Cystic Fibrosis Reference Network Study Group. Rapid improvement after starting elexacaftor–tezacaftor–ivacaftor in patients with cystic fibrosis and advanced pulmonary disease. Am J Respir Crit Care Med 2021; 204: 64‐73.
- 15. Massie J, Curnow L, Gaffney L, et al. Declining prevalence of cystic fibrosis since the introduction of newborn screening. Arch Dis Child 2010; 95: 531‐533.
- 16. Massie J, Ioannou L, Delatycki M, et al. Prenatal and preconception population carrier screening for cystic fibrosis in Australia: where are we up to? Cystic fibrosis carrier screening. Aust N Z J Obstet Gynaecol 2014; 54: 503‐509.
- 17. Archibald AD, Smith MJ, Burgess T, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med 2018; 20: 513‐523.
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