Unlike the common causes of pulmonary diseases in adults, childhood interstitial and diffuse lung diseases (chILD) are rare and distinct. Performing genetic testing on infants and children with these diseases can pinpoint their diagnosis and help providers and families optimize care decisions. However, new research published in Pediatric Pulmonology co-authored by Andrea Heras, M.D., a pediatric pulmonologist at NewYork-Presbyterian and Weill Cornell Medicine, finds that genetic testing is underutilized in this population.
Dr. Heras discusses the study's findings and shares how participating in genetic testing and enrolling in the chILD registry — an effort by the Children’s Interstitial and Diffuse Lung Disease Research Network to collect data on pediatric lung diseases — can benefit patients, families, and the field by improving outcomes.
Can you share an overview of the results from the study?
Among the 609 pediatric patients enrolled in the national chILD registry across 22 centers, we found that just 55% had undergone genetic testing. Of those 338 infants and children, 77 (22.8%) had positive results that identified the underlying genetic cause for their symptoms; the remaining patients either did not have a genetic explanation or had uncertain results.
The most common genetic test used was gene panels (55.9%), followed by exome sequencing or whole genome sequencing (26.9%), single gene testing (24.9%), and/or chromosomal microarray (11.8%). The two most common diagnostic methods for patients with chILD with positive results were gene panels and single-gene testing. Surfactant protein C dysfunction (SP-C) was the most common diagnosis confirmed by genetic testing.
Imaging alone provides limited diagnostic information, so we must utilize additional resources for a definitive diagnosis. In such cases, we involve our genetic team to explore the possibility of conducting a genetic panel for interstitial lung disease.
— Dr. Andrea Heras
How are pediatric pulmonary diseases typically diagnosed?
Patients who present to us at NewYork-Presbyterian and Weill Cornell Medicine with symptoms of respiratory distress or failure at birth are admitted to our level IV neonatal intensive care unit (NICU), where we initiate protocols like basic imaging and provide respiratory support to stabilize the patient.
After a few days, it becomes clear whether these treatments are working, but if the infant’s symptoms do not improve, that’s when our pulmonary team is consulted. We use more advanced diagnostic tools and imaging to get a better understanding of the patient’s condition. However, imaging alone provides limited diagnostic information, so we must utilize additional resources for a definitive diagnosis. In such cases, we involve our genetic team to explore the possibility of conducting a genetic panel for interstitial lung disease. When the results come back, we counsel families whose infant or child tests positive about enrolling in the chILD registry.
What happens when families enroll, and what benefits can they get from being in the registry?
When a family consents to adding their child to the chILD registry, we upload their imaging, genetic testing results, respiratory support information, and any other data available about their disease. The registry brings opportunities to families with children who share the same condition to connect with each other through support groups. Finding those with shared experiences is incredibly valuable.
And then as the registry grows, it becomes more and more beneficial from a clinical standpoint. Having more knowledge about these types of genetic interstitial lung diseases helps us provide more accurate prognoses for our patients and their families. Plus, as more research and information come to light on these conditions, insurance companies may be more likely to approve treatments and services for these patients. For example, if a child has a disability caused by their interstitial lung disease, they may be able to get better access to nursing and therapies.
We’ve been involved in the chILD registry for about five years, and in my experience, families are receptive to joining because it helps advance the understanding and treatment of these rare conditions without additional testing, interference in decision-making, or revealing personal information about their child.
How specifically does increased genetic testing help with better patient care?
A notable improvement is the reduction in turnaround time for interstitial lung disease panels, which used to take six to eight weeks. Now, with the proven effectiveness of genetic testing in diagnosis, results are available in just one to two weeks. This advancement has also allowed us to reduce reliance on more invasive procedures like lung biopsies.
Timely genetic testing enables us to provide effective supportive treatment to children and monitor their progress as they grow. Additionally, genetic panels help families determine whether the disease is recessive or dominant and assess the risk of future children developing lung disease. We may also encourage parents to undergo testing.
Working in pediatrics, I've always believed in the importance of advocating for our patients, as there is often less understanding of therapies and diagnoses for pediatric diseases compared to adult diseases. This underscores the need for more research, data, and genetic testing. The better the treatment a pediatric patient receives, the better their outcomes will be as adults.
