NGS workflows for healthcare

Molecular Diagnostics

Targeted IVD assays developed using best practice principles and in accordance with your quality management system, typically ISO 13485.

Employ amplification-based diagnostic assays for the detection of specific targets, typically pathogens such as a bacteria or viruses. Assays can be based on PCR, QPCR (various chemistries), or an isothermal amplification method, and multiplexing can be applied for parallel detection of several targets.

Combine targeted assays with NGS to generate sequence rich information, for identification of small variants (SNVs, indels) and potentially other variant types. There are different formats here, from traditional amplification assays to pair with short-read sequencing, to updated amplification assays to pair with long read sequencing, for more complete results. This type of assay has broader utility - in the case of infectious disease testing, both the pathogen and its antimicrobial resistance can be determined to help guide treatment decisions. A key application is genetic testing for targeted identification of carrier, disease, or disease-predictive states.

Clinical Genomics

Workflows that incorporate whole genome sequencing (WGS) for a more comprehensive view of the genome and/or epigenome, and higher diagnostic yield than other methodologies.

Use WGS as a screening tool that can be applied to diverse areas e.g. newborn screening, rare/complex disease diagnosis, cancer detection/tumour sequencing, polygenic risk score determination, pharmacogenomics, population genetics, and more. Short read WGS is ideally suited (but not limited to) the identification of small variants and CNVs. It is also a natural partner for applications where the input DNA is short, a perfect option for NIPT or liquid biopsy testing, with many other uses. Long read WGS enables resolution of all variant types (including large SVs/rearrangements and complex repeats/expansions) and provides epigenetic and phasing information. This method can be used to detect the full scope of genetic conditions, offering significant benefits in the diagnosis of rare/complex disease. It also allows unlimited investigation of the genome including dark/regulatory regions.

Biopharma

Workflows for DNA or RNA analysis that can be applied to areas such as drug discovery and biomanufacturing.

Apply the best fit NGS technology to elucidate disease mechanisms for the identification of novel drug or therapy targets. Use custom NGS workflows to check the integrity of viral vectors in the manufacture of gene therapies e.g. adeno-associated viruses (AAVs), adenoviruses (Ads), or lentiviruses (LVs). Apply NGS to the mRNA vaccine QC process for plasmid sequence verification, determination of mRNA vaccine sequence, measurement of poly(A) tail length, and more.

Life Sciences

Fully customised workflows that demonstrate how your molecular biology tools can be applied to the above areas, or broaden their usability through compatibility with a wider range of technologies. For new molecular biology tools, this can involve the identification of human health applications that will best highlight their advantages, and design/implementation of testing approaches. You products can also be customised for compatibility with additional technologies or platforms.

Advisory work

I act as an industry expert in NGS, molecular diagnostics, and genomics. This involves sharing market insights that help investors and other business professionals make more informed decisions. I also review R&D funding proposals and pitch decks from startups, providing feedback to both the startup and its prospective investors. I would love to provide long term R&D support to an innovative startup. Please contact me if you would like to discuss any type of advisory engagement.