Leading Innovation in Biomarker Testing: Next-Generation Sequencing (NGS)

Cutting edge approaches such as NGS are the future of biomarker testing, but require expertise from industry leaders like QIAGEN to develop.

QIAGEN’s biomarker assays are designed to ease the challenges faced by those who perform the tests. By engaging with stakeholders, such as laboratorians and oncologists, QIAGEN’s diagnostic assays aim to deliver multiple benefits to meet market demands, such as:

  • -fast turnaround time
  • -fully integrated workflows
  • -high accuracy and analytical sensitivity
  • -robustness and consistency
  • -cost-effectiveness

QIAGEN helps develop breakthroughs such as new cutting edge biomarker strategies into everyday benefits, and leverages innovations across the continuum from basic research to routine healthcare. We recently reviewed liquid_biopsy as one of the pioneer strategies for biomarker development. Now we review NGS as an innovative approach for biomarker testing, and discuss how the development strategy for Personalized Healthcare/Oncology at QIAGEN aims to support this trend in biomarker detection, which has future potential for new oncology companion diagnostic test development.

The analysis and interpretation of NGS data have rapidly advanced, and continue to drive the development of biomarker testing and precision medicine (1). An upsurge in new testing methods which support precision medicine initiatives, such as NGS, has led to an increase in demand for laboratory services. Labs are turning to NGS technology to ease certain challenges, such as scalability of services, which is key to market growth (2). For example, requests for BRCA_testing have steadily risen since the discovery that women carrying pathogenic mutations in BRCA1 and BRCA2 genes have an elevated risk for breast and ovarian cancers (3–5). The increase in demand for BRCA testing places a strain on laboratories, particularly on those offering rapid genetic testing. To meet the growing demand for BRCA testing, NGS technology offers labs the potential of fast, scalable, cost-efficient and comprehensive results (6). However, implementing NGS testing also imposes significant challenges, such as high start-up costs, fragmented workflows, and complex analysis and data interpretation. Labs must also demonstrate the assay is sensitive and specific prior to adoption. Additional challenges are faced when performing sequencing from FFPE tumor samples for somatic mutation analysis, since DNA isolated from FFPE treated samples is often prone to degradation, which creates difficulties for downstream NGS analysis.

QIAGEN is committed to leveraging their expertise in companion diagnostic test development and building on their existing solutions and technologies to help partners make NGS testing a reality. QIAGEN is continually developing their NGS offering, which delivers multiple benefits, such as the first truly complete and simplified NGS Sample to Insight workflow, as well as various financial models to help labs overcome cost hurdles. QIAGEN offers multiple panels for use with their complete Sample to Insight workflow, and other panels for use with hybrid NGS workflows. QIAGEN is currently developing NGS panels to enable comprehensive NGS testing through simultaneous detection of multiple types of genomic mutations and complex aberrations, including point mutations (SNVs), copy number variants (CNVs), fusions and inversions/deletions (INDELs). QIAGEN’s proprietary software for simplified bioinformatics analysis facilitates complex NGS data interpretation and reporting. Though QIAGEN’s NGS solutions are currently available for research use only and require development for IVD use, QIAGEN’s experience in delivering IVD solutions, together with their regulatory expertise, make them the ideal partner to build on their current NGS solutions for companion diagnostic test development.

QIAGEN’s mission is to enable partners to achieve outstanding success and breakthroughs that make improvements in life possible. QIAGEN achieves this by closely following evolving market requirements, listening to the needs of the customer, and nurturing partner relationships to drive innovation and leadership. Helping labs overcome the challenges of NGS testing to help realize the full potential of this technology for precision medicine is just one way QIAGEN demonstrates innovation, commitment and leadership in biomarker testing.

Visit here to find out more about QIAGEN’s NGS Sample to Insight solutions.



  1. 1. Gagan, J. and Van Allen, E.M. (2015) Next-generation sequencing to guide cancer therapy. Genome Medicine 7:80. Link
  2. 2. Wilkinson, M. (2016) A clinical look at the future of pathology. LaboratoryNews-Features: February 23. Link
  3. 3. Chen, S. and Parmigiani, G. (2007). Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 25: 1329–1333. Link
  4. 4. Mavaddat, N., et al. (2013) Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst 105: 812–822. Link
  5. 5. Evans, D.G., et al. (2014) The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services. Breast Cancer Res 16: 442. Link
  6. 6. Wallace, A.J. (2016) New challenges for BRCA testing: a view from the diagnostic laboratory. European Journal of Human Genetics 24, S10–S18. Link
Kathryn Collinet

Kathryn Collinet, PhD, is a Technical and Marketing Writer for Personalized Healthcare and Oncology at QIAGEN. She trained as a molecular biologist at the University of Barcelona and the Institute for Research in Biomedicine, where she studied DNA and protein modifications and their influence on chromatin conformation and gene expression. Since 2011 Kathryn has been working in marketing communications for the scientific information and molecular diagnostics industries. Kathryn has a passion for delivering knowledge and insights about molecular and clinical technologies, and their power to impact research and healthcare.

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