Newborn Screening in Qatar: Interview with Dr. Skrinska

We interviewed Dr. Skrinska about newborn screening in Qatar, implementation of lysosomal storage disorder (LSD) screening, and what’s next.

To provide a more comprehensive overview of the NBS program in Qatar, in 2009, the lab was routinely screening for only one disorder. All NBS samples were sent abroad to a reference lab. From 2009 to 2014 we introduced screening for 55 disorders including endocrine, amino acid, organic acid, fatty acid, galactose, and biotinidase disorders using LC/MS/MS and photometric analyzers.

Since 2014, screening for homocystinuria and hemoglobinopathies were introduced. In addition, the number of LC/MS/MS markers was expanded to include additional amino acid, organic acid, and fatty acid disorders and 2^nd tier testing for methylmalonic, ethylmalonic, and methylcitric acids was implemented to reduce false positive and provide rapid differentiation and diagnosis. In 2019, the lab screens for 83 disorders and we are currently validating screens for an additional 6 disorders.

Pictured: 2019 APHL newborn screening award winners

In Qatar and across the Middle East it is a challenge to import equipment, parts, and supplies. Other challenges include dealing with dust blown in from the desert, high temperatures, and widely variable humidity. Reliable supply chain management is essential for preventing interruption of screening.

LSD’s are present in the local population and currently detected by presentation of symptoms. The actual prevalence in newborns is not known. With availability of screening technologies for detection of LSD’s it was in the best interests of the affected newborns to detect LSD’s as part of the NBS panel so that they have access to treatment as early as possible.

Due to the current instrument configuration in the lab, introduction of LSD’s by mass spectrometry would require purchase of two additional instruments. The Baebies SEEKER offered a more cost effective way to introduce the screen. Also the opportunity for rapid 2^nd tier targeted molecular confirmation on the initial dried blood spot provides a comprehensive screening protocol that optimizes diagnostic accuracy and specificity.

The Baebies SEEKER is currently under clinical method validation. The installation and performance specification validation were quick and smooth, and the technical support has been great. We are in the process now of clinical validation of the method to ensure accurate and precise results. It is a micro-analytical system and the only challenge that we have experienced has been handling the small volumes which requires dexterity and practice to ensure reproducible results.

The NBS lab will continue to introduce new markers for treatable disorders and 2^nd tier tests to minimize false positives. But looking further on the horizon, the NBS lab is working with the genomics division to develop and implement molecular confirmation on the initial dried blood spot. We believe this will be the next major advance in newborn screening.

As targeted NGS becomes faster and DNA extraction techniques improve, the ability to provide specific diagnoses of affected newborns and the reduction of false positives may improve dramatically. The newborn screening lab in Qatar plans to play an active role in these developments.