Cystic fibrosis in the era of effective treatment: Informing targeted therapy and influencing reproductive decision-making

The treatment of cystic fibrosis with small molecule therapies is heralded as a gold standard for the precision medicine era. The past decade in CF research has seen the advent of variant-specific therapies that are able to correct the underlying defect responsible for disease. The eventual goal of providing effective therapy to all individuals with CF is dependent upon the ability to estimate potential clinical improvements attributable to increases in CFTR function. Many other genetic diseases are also beginning to see advances in treatment that address the underlying disease mechanism. This, combined with the ever-increasing availability of genetic screening, means that it is vital for the medical genetics community to understand how these new therapies are affecting people’s views and decisions. Taking into account a changing disease landscape is essential when developing screening and counseling protocols, as well as recommendations for carrier testing. Cystic fibrosis provides a paradigm to understand how precision treatment is being applied in the clinic and beyond