Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns

ABSTRACT

Introduction: Digital microfluidics (DMF) is an emerging technology with the appropriate metrics for application to newborn and high-risk screening for inherited metabolic disease and other conditions that benefit from early treatment.

Areas covered: This review traces the development of electrowetting-based DMF technology toward the fulfillment of its promise to provide an inexpensive platform to conduct enzymatic assays and targeted biomarker assays at the bedside. The high-throughput DMF platform, referred to as SEEKER®, was recently authorized by the United States Food and Drug Administration to screen newborns for four lysosomal storage disorders (LSDs) and is deployed in newborn screening programs in the United States. The development of reagents and methods for LSD screening and results from screening centers are reviewed. Preliminary results from a more compact DMF device, to perform disease-specific test panels from small volumes of blood, are also reviewed. Literature for this review was sourced using principal author and subject searches in PubMed.

Expert commentary: Newborn screening is a vital and highly successful public health program. DMF technology adds value to the current testing platforms that will benefit apparently healthy newborns with underlying genetic disorders and infants at-risk for conditions that present with symptoms in the newborn period.

KEYWORDS:

• Digital microfluidics
• lysosomal storage disorders
• newborn screening
• dried blood spots
• near patient testing
• hyperbilirubinemia
• hypoglycemia

Declaration of interest

DS Millington is a shareholder of Baebies, Inc. and serves on their scientific advisory board. S Norton, R Singh, R Sista, V Srinivasan, and VK Pamula are employees and shareholders of Baebies, Inc. Baebies Inc. has a proprietary position with respect to the technology discussed here and has a financial interest in its commercialization. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was funded by NIH – National Heart, Lung, and Blood Institute (HHSN268201000001C and R43HL125484); National Institute of Child Health and Human Development (R44HD057713, R44HD072853, and R44HD092154); and National Institute on Deafness and Other Communication Disorders (R44DC012967).