Enabling Clinical Genomics with Highly Multiplexed and Patient-like Reference Materials

Drug Discovery & Development, Life Sciences,
  • Wednesday, March 01, 2017

Next generation sequencing (NGS) based clinical genomics assays are increasingly being offered by laboratories worldwide across a wide range of disease areas, including cancer, reproductive health, inherited disease and infectious disease. Developing, optimizing, and monitoring such assays however can be a time consuming and challenging task.

Scientists and clinicians can build and implement robust and accurate clinical genomics assays with the help of highly multiplexed and patient-like reference materials.

These innovative and expert-designed materials:

  • Expedite assay development, improve robustness, and better characterize your assay
  • Help ensure confidence in the diagnostic result and overall laboratory test performance
  • Enable the development of global QC standards including proficiency materials to allow for better inter-laboratory comparisons of performance

In this presentation, the speaker will discuss a case study of how a global external quality assessment (EQA) organization is using these reference materials to ensure the accuracy and consistency of one such clinical genomics application in the area of non-invasive prenatal testing (NIPT).


Sandi Deans, Consultant Clinical Scientist, Director of UK National External Quality Assessment Service (UK NEQAS) for Molecular Genetics

Dr. Sandi Deans is a Consultant Clinical Scientist and the Director of UK National External Quality Assessment Service (UK NEQAS) for Molecular Genetics which is based in the Department of Laboratory Medicine, Royal Infirmary of Edinburgh. The UK NEQAS scheme delivers assessment of molecular genetic testing, molecular pathology testing, newborn screening, prenatal diagnosis, preimplantation genetic diagnosis and is involved in the new technical next generation sequencing scheme.

Sandi sits on many committees including the European Molecular Quality Network Board, UK NEQAS Steering Committees for Clinical Cytogenetics, Cellular Pathology Techniques and Molecular Genetics, and has recently been appointed as Board member and Treasurer of the International Quality Network for Pathology (IQN Path). She is a past UK NEQAS Executive Director, Association of Clinical Genetic Science Executive Committee member and has been involved in the selection panels for MCADD extended mutation screening laboratories and the Cancer Research UK Stratified Medicine Technical Hub laboratories.

Sandi is also currently working as the National Laboratory Lead for the NHS England 100,000 Genomes project implementation unit and collaborates closely with Genomics England to deliver high quality sequencing for both the rare diseases and cancer programmes.

Message Presenter

Who Should Attend?

Scientists and lab directors in clinical laboratories focused on assay development, validation or operations of clinical genomics assays

Areas of Interest:

  • Cancer
  • Reproductive Health
  • Inherited Disease
  • Infectious Disease

Xtalks Partner


SeraCare is a trusted partner and worldwide supplier to the diagnostic testing industry for over 30 years, advancing the development of molecular and serology diagnostics with innovative technology, quality controls, reagents and biological materials. As an ISO 13485 certified manufacturer with advanced molecular manufacturing and packaging capabilities, SeraCare is a leader in reference standards to enable the promise of precision medicine and ensure correct results for NGS-based test providers.

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