Epigenetic qPCR tool detects disease in newborns

The alternative method uses epigenetic quantitative real-time PCR (qPCR) assays and successfully detects a larger number of PIDs…


A new study has identified a novel diagnostic approach to screen newborns for inherited diseases that are not presently screened for.

Currently, newborns undergo a ‘heel-prick’ test, and the dried blood spots are analysed for Severe Combined Immunodeficiencies (SCID). Despite more than 300 Primary Immune Deficiencies (PIDs) are known, in the UK, the test checks for signs of only 9 diseases including sickle cell disease, cystic fibrosis, congenital hypothyroidism and other inherited metabolic disorders.

The alternative method uses epigenetic quantitative real-time PCR (qPCR) assays and successfully detects a larger number of PIDs, including SCIDs and immune dysregulation, X-linked agammaglobulinemia (XLA) and other severe diseases that usually become apparent within a few months of birth.

“While further research is needed, these initial results are very encouraging as they provide early evidence that this epigenetic technology could eventually be a newborn screening method that would identify primary immune diseases that are currently very difficult to detect,” said Dr Rosa Bacchetta, one of the study investigators and an Associate Professor in the Department of Paediatrics, Stanford School of Medicine.

The new method could allow treatment to begin soon after birth, with improved disease outcomes and better survival.

“Typically, children are not diagnosed until they’re sick and are showing symptoms at which point there already is organ impairment and infections that make effective treatment much more difficult. It would be highly advantageous if we could identify these diseases at birth and begin treatment soon after birth, prior to the development of symptoms.”

In the study, epigenetic qPCR assays were developed to analyse human leukocyte subpopulations. Blood from 25 healthy individuals and 97 HIV positive individuals along with dried blood spots from 250 healthy newborns and 24 newborns with primary immunodeficiencies were analysed.

The study showed successful identification of newborns suffering from various primary immunodeficiencies using epigenetic immune cell quantification, and as such, could expand the number of life threatening immune disorders identified in newborns. Earlier detection could lead to more successful treatment, and an overall longer, healthier life.

The researchers continue to investigate epigenetic immune monitoring on healthy children in order to provide more precise diagnostics to detect these diseases.

The study was published in Science Translational Medicine.