Long-Read Sequencing Game Changer for PCD

Lurie Children’s is the first and only hospital in Illinois to offer a Primary Ciliary Dyskinesia (PCD) Center of Excellence accredited by the PCD Foundation.

Under the direction of Maria Dowell, MD, Interim Division Head of Pulmonary and Sleep Medicine, the Center specializes in diagnosing and treating children with PCD and serves as both a referral and care center across the region. The team also includes pediatric pulmonologist Marco Almeda, MD; advanced practice nurse Mary Kate McIntyre, MSN, APRN, CPNP-PC; and genetic counselor Alexander Ing, MS, CGC.

The Center offers access to high-quality diagnostic tools, including the nNO (nasal nitric oxide) machine, as well as multidisciplinary pediatric expertise required to care for children with this genetic disease. As a result, all genetic testing for PCD is done in-house at Lurie Children’s. The lab utilizes next-generation sequencing to detect single nucleotide and copy number variants in genes associated with PCD. 

Recently, through a generous endowment from Don and Anne Edwards, the Division of Genetics, now The Edwards Family Division of Genetics and Rare Diseases, was able to purchase their first Long Read Sequencing (LRS) machine. This sequencing technology, only available at a handful of PCD Centers, adds numerous benefits to patients, including the ability to investigate difficult-to-sequence genes such as HYDIN as well as the possibility to determine the parental inheritance pattern of a genetic testing result without testing of the parents.

In addition to this technology, the Center also has its in-house nNO machine, another important component in the evaluation of patients with PCD. Together, these tools are powerful resources for patients in the PCD Center at Lurie Children’s.  

“Having access to this cutting-edge LRS technology is monumental given the critical role of genetic testing in the diagnostic workup of PCD,” says Ing.

"When clinical suspicion is high, even if other tests are negative, you might still want to conduct some of the other types of testing," says Dr. Almeda. "Having access to all these combined forms of testing will certainly help in the reduction of missed diagnoses."