Pulmonary Genetics Program

Many lung and respiratory diseases have an underlying genetic cause. The Pulmonary Genetics program, part of Boston Children’s Division of Pulmonary Medicine, can guide families and clinicians who are interested in seeking a genetic explanation for respiratory disorders or breathing problems in an infant, child, adolescent, or young adult. 

When existing genetic tests come back negative or inconclusive, our team of pulmonary physicians, geneticists, and computer scientists can conduct a deeper investigation. Our work often leads to a revised interpretation of original test results. In addition to our own data analysis and research pipelines, we collaborate with the Manton Center for Orphan Disease Research, other labs around the hospital, and colleagues at other institutions. As a result, we now can frequently identify mutations in genes not previously known to be involved in lung disease, providing answers for our patients and their families.

Once testing results are in, we work with families to develop a comprehensive care plan. Our physicians and certified genetic counselors all have expertise in lung disease, and can bring in other specialists as needed to provide long-term care or partner with a child’s existing care team. 

Does my child need genetic testing?

Rare genetic lung diseases can often look like more common forms. Genetic testing can give further insight on a child’s illness and help in choosing better treatments. A genetic diagnosis can also help families know what to expect in the future and be aware of possible risks in other family members. Many families also use the genetic testing information in planning future pregnancies.

However, not everyone with lung disease needs genetic testing. These are some situations in which families might benefit from testing:

  • The lung disease is severe, starts early in life, or does not respond well to treatment
  • There is a family history of lung disease
  • The illness is thought to have particularly rare or unusual features
  • Previous genetic test results were negative, inconclusive or unclear

Leading the way in lung genetics 

The Pulmonary Genetics program brings a team of pediatric pulmonologists and other specialists with experience in a broad range of lung diseases, including these and others: 

  • atopic disease
  • severe asthma
  • bronchiectasis 
  • bronchiolitis obliterans
  • congenital diaphragmatic hernia
  • congenital hypoventilation
  • cystic fibrosis (CF)
  • cystic lung diseases
  • childhood interstitial lung disease (ILD)
  • hereditary hemorrhagic telangiectasia (HHT)
  • lymphangiectasia
  • pneumothorax
  • pulmonary hypertension and other pulmonary vascular diseases
  • primary ciliary dyskinesia
  • recurrent lung infections
  • sleep-related breathing disorders/sleep apnea
  • tracheoesophageal fistula

Our wide-ranging expertise enables us to better interpret our patients’ genetic test results, helping families avoid unnecessary tests and treatments. The program is also staffed by a dedicated pulmonary genetic counselor with extensive experience in working with patients with lung disorders.