Dr. Benjamin Raby, Boston Children’s Hospital, Harvard University, Boston, MA (USA)

The indications for genetic testing in pulmonary medicine are rapidly increasing. More than 100 genes have been identified that harbour highly penetrant mutations that cause pulmonary disease, including many for which their clinical recognition would impact disease management strategies, including therapeutic indications. In this session, we will review the current state of clinical pulmonary genetics and demonstrate the utility of genetic diagnostics – including gene sequencing and epigenetic assays – in the care of both children and adults with disorders of the respiratory system. We will also review the current limitations of testing, the merits of a sequence-first approach, and the implications of a genetic pulmonary diagnosis for both patients and their relatives.

Learning Objectives
At the end of this presentation, attendees will be able to:

  • Define the spectrum of respiratory disorders for which genetic testing may be warranted and beneficial;
  • Understand the limitations of current technologies and genome analysis approaches; and
  • Recognize the importance of the patient as a sentinel and the potential need for outreach to other at-risk family members.