Digital PCR in Clinical Diagnostics: Technological Advancements and Challenges

Over the past decades, molecular diagnostics has evolved into one of the most important tools for identifying and monitoring various diseases, particularly cancer and infectious diseases. Key challenges in this field include the accuracy of genetic biomarker quantification, the speed of analysis, and the ability to perform tests using minimally invasive methods such as liquid biopsies. Among the methods that have proven particularly effective, digital PCR (dPCR) stands out for its ability to provide absolute quantification of DNA and RNA targets with high sensitivity and specificity.

In clinical diagnostics, precise monitoring of genetic changes is crucial as it directly impacts diagnosis, prognosis, and treatment selection. While methods such as quantitative PCR (qPCR) and next-generation sequencing (NGS) are widely used, they have certain limitations. qPCR enables relative quantification, whereas dPCR offers absolute quantification without the need for standard curves. Although NGS allows for in-depth analysis of genetic alterations, it requires complex bioinformatics, longer analysis times, and higher costs. dPCR serves as an optimal solution in cases requiring high sensitivity for quantifying low-frequency mutations.

QIAGEN has introduced QIAcuityDx, a new digital PCR platform specifically designed for clinical use. The device is IVDR-certified in the EU and holds 510(k) exemption in the US, allowing for its direct implementation in clinical laboratories.

 

The key advantages of QIAcuityDx include:

 

• Absolute quantification – Enables highly precise measurement of DNA and RNA target molecules without the need for standard references.

 

•  Rapid analysis – The entire process takes approximately two hours, facilitating faster clinical decision-making.

 

• Optimized laboratory workflows – The system includes integrated software with validated diagnostic tests and supports laboratory-developed tests.

 

• Reduced contamination risk – The fully integrated system minimizes the need for multiple manual handling steps, reducing the risk of sample contamination.

 

• Flexibility and accessibility – The platform allows continuous sample loading and seamless integration into existing laboratory systems.

 

dPCR is increasingly recognized as a key tool in clinical diagnostics due to its precision, sensitivity, and ability to detect low-frequency genetic alterations. QIAcuityDx represents a significant step forward in this field, providing more reliable and faster results essential for cancer monitoring and other diseases. Its integration into clinical laboratories greatly enhances diagnostics and patient management, enabling better disease monitoring and more timely adjustments