A new study has learned that infants of color, who tested positive for cystic fibrosis after the newborn screening test, receive their diagnostic follow-up later than recommended compared to other racial and ethnic backgrounds.

The new study shows that the disparities in health and mortality in people with cystic fibrosis are linked to race, ethnicity, and socioeconomic status.

What is Cystic Fibrosis?

According to Mayo Clinic, cystic fibrosis is a genetic disease that damages the lungs, digestive system, and other organs in the body. It can affect the adequate flow of salt and water in cells, especially those that produce mucus, sweat, and digestive juices. 

The disease could cause buildup, resulting in chronic lung infections and severe lung disease. Signs and symptoms may vary depending on the severity of the case and can worsen or improve over time. 

Some will not even have symptoms until their teenage years or adulthood, which usually have milder and atypical symptoms. Since these people have a higher salt level in their sweat, parents often taste it on their children's skin.

Most symptoms of cystic fibrosis affect the respiratory and digestive systems. The symptoms in the respiratory system include persistent cough with thick mucus, wheezing, exercise intolerance, repeated lung infections, stuffy nose, and recurrent sinusitis. 

Meanwhile, digestive symptoms include foul-smelling and greasy stools, poor weight gain and growth, intestinal blockage, and chronic or severe constipation.

Although it is a progressive disease that requires care, patients can still attend school and work and have a quality life. Also, improvements in newborn screening help diagnose infants in the first month of their life.

Cystic Fibrosis in Infants of Color Often Receive Treatment Later Than Other Groups, Study Finds
(Photo : Unsplash/Zoe Graham)
Cystic Fibrosis in Infants of Color Often Receive Treatment Later Than Other Groups, Study Finds

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Later Diagnosis Means Later Treatment

Lead author Dr. Susanna McColley said that although race is a social construct, the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene variant distribution is different in every race and minority groups tend to have more of them. According to Science Daily, this gene is known to cause cystic fibrosis.

She added that medical literature also often describes the disease as affecting more people of European ancestry, which may have resulted in bias when interpreting newborn screening results compared to other racial and ethnic backgrounds, leading to delays in evaluation and treatment.

Health Digest reports that the study found that Black, Hispanic, Asian, or Native American infants tend to receive follow-up after 31 days, while white infants receive a diagnosis at 22 days old. Generally, doctors recommend that infants with cystic fibrosis receive a further evaluation at 28 days old.

The delay caused racial disparity in care and health outcomes for infants with the disease. Researchers found that infants with delayed diagnoses and treatment tend to have poorer nutritional outcomes. Therefore, prompt evaluation is needed to diagnose cystic fibrosis, so there has been initiation for equal evaluations on infants regardless of their race or ethnicity.


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