With the support of the BC Children’s Hospital Foundation, the Molecular Genetics Laboratory launched a new genetic test for cystic fibrosis (CF) that offers significant improvements over previous testing. The new testing solution uses next generation sequencing (NGS) technology which can be used to sequence deoxyribonucleic acid (DNA) more efficiently than with previous sequencing approaches.
Now, 130 CF-causing variants are assessed compared to 37 previously, meaning 10 per cent more diagnoses will be confirmed in the first round of testing. Another benefit is that it is less likely to miss a diagnosis – something that used to happen in about one per cent of cases but will now only happen in about 1 in 400 cases. Newborns and kids with CF will now be diagnosed is less time than before and have quicker access to life-altering and life-extending treatment.
“Having next generation sequencing instrumentation in the laboratory not only benefits patients with cystic fibrosis but will allow us to expand the range of genetic testing for other conditions,”
says Dr. Tanya Nelson, head of the Division of Laboratory Genetics and Genomics at BC Children's & BC Women's hospitals.
“This new technology is much more efficient than older technologies, and will allow us to develop and expand available testing in the province so that we can deliver better and more comprehensive care to patients with genetic conditions.”
Cystic fibrosis is the most common serious genetic disease affecting Canadian children and young adults with approximately one in every 3,600 children born with the disease. Children with CF inherit two copies of a gene that do not work properly. This makes mucus in the body thicker and results in difficulties digesting food and absorbing nutrients, and in breathing and fighting off lung infections. More than 4,100 Canadian children, adolescents and adults live with cystic fibrosis. At present, there is no cure.
The Department of Pathology & Laboratory Medicine at BC Children’s Hospital and BC Women’s Hospital + Health Centre provides the province’s diagnostic and screening testing for CF, including the screening of approximately 45,000 infants each year through the provincial newborn screening program. The Molecular Genetics Laboratory performs CF genetic testing for a subset of these newborns as part of the newborn screening program, as well as for older children and adults who meet clinical criteria.
Newborn screening for CF is a vital tool to help slow the progression of this disease. Early intervention has been shown to improve height and weight; help maintain healthy lungs; reduce hospitalizations; and increase life expectancy. Since 2009, all babies born in British Columbia are screened for CF.