Epigenetic Technology Could Become Useful in Newborn Screening for Primary Immunodeficiency and Monitoring HIV

Researchers are exploring a new diagnostic method that could be applied to newborn screening for certain inherited diseases and monitoring of HIV patients. For more detailed information, you can click here to see the source article at PR Newswire.

About the Study

In a new study, published in Science Translational Medicine, researchers investigated an analysis technique called epigenetic quantitative real-time PCR (qPCR) in several participant groups. The study involved blood samples taken from 25 healthy participants, 97 participants who are HIV positive, 250 healthy newborn babies, and 24 newborn babies diagnosed with primary immunodeficiency conditions.

Results Relating to Newborn Screening

Newborns are often screened using blood tests, typically within the first few days of life, for certain conditions. Most babies do not have any of the conditions screened for, but for the ones that do, an early diagnosis as a result of screening can have a huge impact on their health and treatment. The screening test is typically done by pricking the newborn’s heel and taking a spot of blood, which is put onto a card and sent off for analysis. According to the source article, the current method of analysis of this blood spot test is only able to detect severe combined immunodeficiencies, while there are over 300 known primary immune deficiencies.

The approach that the researchers tested, epigenetic qPCR assays, was found to identify a larger number of primary immune deficiencies. An investigator on the study emphasised the importance of early diagnosis, saying that the onset of symptoms is often linked to organ impairment and infection and that treatment may be more likely to be effective if it begins before this point.

Results Relating to Care for Patients with HIV

The epigenetic technique was also suggested as a possible way to improve care for patients diagnosed with HIV. According to the source article, it could be used to quantify immune cells from a spot of dried blood.

At the moment, methods of measuring immune cells typically involve fresh or carefully preserved blood samples. This can be a barrier to care for some patients with HIV, particularly if they are in an area with limited medical resources. Patients may have to travel for long periods to have an immune cell counting procedure. The epigenetic technology researched in the study was found to be able to effectively carry out immune cell counts using a dried blood spot. The implication of this, reports the source article, is that patients could mail a drop of blood to the lab for analysis, rather than travel, and that this may increase the likelihood that patients have regular tests of their immune cell counts.

The Next Steps

Although this technology is not ready for clinical use and needs further research, the study authors wrote that it is an “intriguing approach to develop further.” Researchers are now investigating the technique using healthy children participants, in order to develop more precise diagnostic thresholds and therefore increase its clinical utility.


Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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