BioCentury
ARTICLE | Politics, Policy & Law

Study quantifies costs of delayed diagnosis of rare diseases

EveryLife Foundation reports that lack of timely diagnoses cost an average of more than $220K per patient across seven rare disorders

September 14, 2023 5:26 PM UTC

A study released Thursday by the EveryLife Foundation said early diagnosis of seven rare diseases could avoid costs of up to $517,000 per patient, including medical costs and productivity losses.

The EveryLife Foundation for Rare Diseases’ report builds a case for newborn screening, including next-generation neonatal sequencing, to provide quick diagnoses of rare diseases...