HomeENGLISH MAGAZINECystic fibrosis: a more accurate screening will be available

Cystic fibrosis: a more accurate screening will be available

Cystic Fibrosis (CF) is accompanied by chronic obstructive pulmonary disease, pancreatic insufficiency with poor digestion and poor absorption of nutrients, leading to the worsening of the nutritional status. The prognosis and the life expectation increased in virtue of progress that offered an intense and proper nutritional follow-up from the diagnosis. Most of the deaths occur for respiratory infections in children, rarely for the disease itself. The neonatal screening for CF with early treatment and identification of the pancreatic disease and proper nutritional management, has been associated with the reduction of nutritional deficits and improvement of growth parameters over the years. Despite an existing gap of evidence about the advantage of neonatal screening in relation to the progression of the pulmonary disease and survival, the studies show an advantage in the pulmonary function up to at least 8 to 10 years old. Besides that, the strong association of the nutritional status and pulmonary function and the increase of survival indicate a possible improvement of morbi-mortality in the patients diagnosed by neonatal screening.

Scientists at McMaster University have discovered several new biomarkers from a single drop of blood that could allow earlier and more definitive detection of cystic fibrosis (CF), a genetic disease which strikes both children and adults, causing chronic problems with the digestive system and the lungs. The findings, published online in the Journal of Proteome Research, are significant because current newborn screening methods are not accurate enough to identify the disorder in the population, which can manifest itself in many different ways, requiring additional testing and causing further stress for anxious parents. The earlier CF is detected, the earlier it can be managed and treated, which means better health outcomes for affected infants, including their future growth and development. A tiny amount of blood is drawn from the heel of all babies as part of universal newborn screening programs that test for many rare yet treatable diseases since babies usually have no signs of disease at birth, including CF. In the case of CF, infants are screened for a pancreatic enzyme and then a panel of disease-causing genetic mutations associated with CF.

However, further testing to confirm or rule out the disease finds that most babies who screen-positive do not actually have the disease. These babies are later found to be “healthy carriers” or their results are deemed to be “false positives”. With this in mind, researchers set out to determine whether they could discover chemical signatures in a dried blood spot that could better distinguish infants who have CF from those who do not. The research was led by Dr. Philip Britz-McKibbin, professor in McMaster’s Department of Chemistry & Chemical Biology, along with graduate student Alicia DiBattista, now a postdoctoral fellow at Newborn Screening Ontario (NSO). Using less than a single drop of blood stored at NSO at the Children’s Hospital of Eastern Ontario (CHEO), researchers analyzed and compared samples from infants confirmed to have CF with the samples of both healthy and screen positive infants. They found several new metabolites as well as simple aminoacids directly related to affected infants with CF who otherwise have no symptoms and normal birth weight. These biomarkers provide new insights into the disease process early in life before symptoms are fully apparent. Moreover, these compounds can be analyzed by mass spectrometry at incremental costs since it is already used for testing many other genetic diseases at newborn screening facilities around the world.

Pranesh Chakraborty, medical director of NSO at the CHEO, states: “In Canada, life expectancy rates have risen dramatically with the median age of survival now over 50 years, due to better treatments to improve lung function, better nutrition, lung transplants. The advent of universal newborn screening programs for CF will likely further improve the quality of life of affected patients. Ontario started screening for Cystic Fibrosis in April 2007, and since that time over 400 children have already benefited from early recognition and early treatment. But for every one of these children, about 10 have had a false-positive result. We want to get this number down and are very hopeful that the new biomarkers discovered by this research project will help us do exactly that. We know that early detection can have significant benefits for people living with cystic fibrosis. The current screening methodologies capture a broad swathe of families that then need further testing to narrow down those that are true positives. The anxiety and distress that such further testing can needlessly cause families was a major concern that slowed the adoption of newborn screening in some jurisdictions”.

  • Edited by Dr. Gianfrancesco Cormaci, PhD, specialist in Clinical Biochemistry.

Scientific references

DiBattista A et al., Britz-McKibbin P. J Proteome Res. 2018 Dec 3.

Guo X et al., Zhang X. Orphanet J Rare Dis. 2018 Dec 17;13(1):224.

Martins JP et al. Rev Assoc Med Bras. 2018 Nov; 64(11):1032-1037.

Gilchrist FJ, Buka R et al. BMJ Paediatr Open. 2018 Oct; 2(1):e000367.

Dott. Gianfrancesco Cormaci
- Laurea in Medicina e Chirurgia nel 1998 (MD Degree in 1998) - Specialista in Biochimica Clinica nel 2002 (Clinical Biochemistry residency in 2002) - Dottorato in Neurobiologia nel 2006 (Neurobiology PhD in 2006) - Ha soggiornato negli Stati Uniti, Baltimora (MD) come ricercatore alle dipendenze del National Institute on Drug Abuse (NIDA/NIH) e poi alla Johns Hopkins University, dal 2004 al 2008. - Dal 2009 si occupa di Medicina personalizzata. - Guardia medica presso strutture private dal 2010 - Detentore di due brevetti sulla preparazione di prodotti gluten-free a partire da regolare farina di frumento immunologicamente neutralizzata (owner of patents concerning the production of bakery gluten-free products, starting from regular wheat flour). - Responsabile del reparto Ricerca e Sviluppo per la società CoFood s.r.l. (leader of the R&D for the partnership CoFood s.r.l.) - Autore di un libro riguardante la salute e l'alimentazione, con approfondimenti su come questa condizioni tutti i sistemi corporei. - Autore di articoli su informazione medica e salute sui siti web salutesicilia.com, medicomunicare.it e in lingua inglese sul sito www.medicomunicare.com
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