Barriers to finding a genetic diagnosis for children with rare disease.

Rare diseases affect millions of people in the USA. However, access to subspecialty care is not distributed equitably and there may be other barriers to clinic attendance. Furthermore, once established within the genetics clinic, families may still face barriers along the path to getting a molecular diagnosis. In this episode, we meet Early Career Investigator, Monica Wojcik, a neonatologist and geneticist at Boston Children's Hospital who ran a study to determine the influence of social determinants of health on the care-cascade following referral to a high-volume pediatric outpatient genetics clinic. Read the full study here: https://www.nature.com/articles/s41390-022-02240-3