Horizon Diagnostics Blog

Redefining Standards - The role of Reference Standards in precision medicine

Feb 25, 2019 3:16:09 PM No Comments

Precision medicine is defined by the Precision Medicine Initiative as, “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person”.  It allows doctors to prescribe treatment tailored to the individual patient and allows drug developers to create treatments that are more targeted to those individuals.

In summary, precision medicine aims to find the right drug, for the right patient, at the right time.

Targeted therapy not only benefits the patient, but also has a positive effect on healthcare costs and success:

  • Increased targeted therapy
  • Increased clinical trial selection
  • Decreased non-targeted selection
  • Increased quality of hospice care

Precision medicine requires accuracy

To enable the ultimate goal of precision medicine, diagnosis needs to be as accurate as possible.

Read More NGS, Reference Standards

Using Reference Standards in the development of new liquid biopsy platforms

Jan 10, 2019 3:47:35 PM No Comments

Liquid biopsy is fast becoming a realistic clinical diagnostic tool, capable of profiling the molecular makeup of a tumor that aids in choosing the right drug and in monitoring treatment response. Studies for its use in early cancer detection are already underway with promising results1-3.  

For liquid biopsy to become routine within the clinic, reliable, and affordable, diagnostic technologies, platforms and assay need to be readily available. This was a hot topic at AACR 2018, with the many cutting-edge companies showing promise in this area.

Horizon have developed and refined cell-free DNA (cfDNA) Reference Standards, which are an ideal companion for existing liquid biopsy assays. However, they are also a valuable tool for developing new technologies. As our material is cell line-derived, and highly characterized, it is ideal for validation studies to evidence reliability and reproducibility of novel technologies.

This case study, published in PLoS ONE4, explains how Horizon worked closely with Inivata, ctDNA and liquid biopsy specialists, to develop a new liquid biopsy platform.

Read More NGS, Reference Standards

Why You Should Use Cell Line-Derived Reference Material for NGS Oncology Assays

Nov 29, 2018 2:05:00 PM 1 Comment


We all know NGS analysis can be difficult to navigate. Not only is the human genome complex, but technical errors can occur throughout the entire workflow – from sample preparation, through sequencing and during analysis.

Thankfully, these technical errors can be mitigated by using high-quality reference material. Using the best standards for your assay will help both calibrate your NGS measurements and evaluate your diagnostic performance.

With advances in affordable technologies, there is now a multitude of reference types to choose from including patient material, cell line-derived standards and synthetic spike-ins. In this blog, we shine the spotlight on cell line-derived standards and the distinct advantages these have when used for NGS oncology assays.

Read More Oncology Panels, NGS, Reference Standards

Next Generation Sequencing for the Detection of Myeloid Cancer

Sep 24, 2018 12:18:45 PM No Comments Comment

Acute Myeloid Leukaemia (AML) is a group of blood cancer malignancies that originate from the uncontrolled proliferation of blast cells in the bone marrow and circulating blood1. AML is a relatively rare disorder - representing less than 1% of total cancer cases2.

Although incidence is low, the disease is aggressive. However, recent advances and improvements in testing and treatment options are increasing disease manageability and survival rates for AML patients.

Read More Oncology Panels, NGS, cfDNA, Reference Standards, Oncology

Combatting the challenges of liquid biopsy with cfDNA synthetic plasma Reference Standards

Aug 10, 2018 3:46:08 PM No Comments Comment

Liquid biopsy holds many advantages over solid tumor testing of cancer patients. It is less invasive for the patient, avoiding the need for surgical biopsy, and has improved levels of sensitivity to detect low frequency somatic driver mutations.   

The industry is pushing for liquid biopsy to become the go-to method for the collection of clinical DNA samples for oncology genotyping. This could be at the point of diagnosis - for routine monitoring during treatment to detect the appearance of resistance mutations, which may indicate a change of therapy is required. Alternatively, liquid biopsy could be used for future preventative cancer screening of the general population before disease symptoms appear - to facilitate earlier diagnosis and better treatment outcomes.

Read More Oncology Panels, NGS, cfDNA, Reference Standards, Oncology

Case Study: OGT use Horizon's Reference Standard to validate their SureSeq™ assay technology

May 23, 2018 3:10:58 PM No Comments Comment


Oxford Gene Technology (OGT), a molecular genetics company who manufacture custom NGS cancer panels and sequencing reagents, used Horizon’s formalin compromised DNA (fcDNA) Reference Standards to validate their SureSeq™ assay technology.

Read More Oncology Panels, NGS, Reference Standards, Oncology

Recent developments in targeting NTRK fusions for cancer therapeutics

Apr 27, 2018 3:24:21 PM No Comments Comment

The NTRK Gene Family

Since the mid-80s, evidence has shown that gene fusions are implicated in cancer. With advances in Next Generation Sequencing (NGS) technology, the impact of gene fusions on driving cancers and how they act as potential therapeutic targets is quickly being revealed.

Read More Oncology Panels, NGS, Reference Standards, RNA, RNA fusions

Our Top 5 Quality Control (QC) Metrics Every NGS User Should Know

Feb 20, 2018 3:03:09 PM No Comments Comment

We all know how vital quality control is for our samples. A lot of research has gone in to developing useful QC metrics for genomics experiments – primarily due to their high cost. Skipping this step will waste both time and money.

There are 3 main areas where QC can be applied to NGS:

  • On the starting nucleic acids
  • After Library preparation
  • Post-Sequencing
Ultimately the best QC of your NGS experiments is likely to come from the sequence data and, because of this, many labs will run a QC lane first.
Read More NGS

10 Top Tips for Validating your NGS Assay

Feb 6, 2018 11:32:46 AM No Comments Comment

With new advances in technology, we’re now moving more towards large panel Next-Generation Sequencing (NGS) assays and whole exome (WES) and genome sequencing. NGS is gaining popularity thanks to the high-throughput capability and lower cost per sample.

However, validating these complex assays can be tricky, so we’ve compiled some top tips from industry guidelines* to help you...

Read More Oncology Panels, NGS, Reference Standards

The growing impact of liquid biopsies on precision medicine

Oct 11, 2017 10:30:20 AM No Comments Comment

 Liquid biopsies are becoming increasingly popular in cancer research. We take a look at their potential impact in the clinic and how current technologies can help us keep pushing the boundaries of precision medicine. 

Read More NGS, cfDNA, Reference Standards

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