Genomic sequencing now informs clinical decisions, multi-site studies and regulatory submissions. That raises a simple but important question for every lab: how confident are we in the data?
In this Spotlight On, we look at Sequins, a company that makes synthetic controls so labs can measure the quality of their sequencing inside every sample. For tasks like detecting rare variants or comparing workflows, labs increasingly need standard internal controls as a matter of course. Sequins provides them.
About Sequins
Sequins has offices in San Francisco and Sydney and was co-founded by Professor Timothy Mercer. The company grew out of a research programme in Professor Mercer's lab at the Garvan Institute in Sydney, which has been widely published. Its starting point was that as sequencing moves from research into clinical use, labs need a way to measure data quality.
Sequins makes synthetic DNA and RNA controls that are added directly to each sample without affecting it. More than 200 genomics labs now work with Sequins. The company's aim is to make genomic data measurable, comparable and reliable in clinical settings.
How the controls work
Sequins controls are synthetic DNA and RNA sequences built using a patented mirroring method. Each one is a mirror image of a real genomic sequence, with the same make-up of DNA bases.
That means the controls behave like natural DNA at every stage, from library preparation to bioinformatics, while staying easy to tell apart from the sample. Because they go through the whole process with the sample, they work as true internal controls rather than separate reference materials. With Sequins, labs can:
Normalise and standardise results within and between runs.
Set limits of detection, especially for low-frequency variants.
Measure performance using built-in molecular ladders.
Compare sequencing platforms, library preparation kits and workflows.
The controls are designed to include hard-to-sequence regions, structural variants and clinically relevant mutations. They show labs how well each sample was sequenced, as well as what was sequenced.
Why sequencing quality matters more now
Genomic data now feeds into liquid biopsy, rare disease diagnosis, large multi-site studies, regulatory submissions and drug development. As more depends on it, differences between workflows, instruments and labs matter more.
When a variant call can change a patient's treatment, small differences in performance count. Low-frequency mutations, difficult regions and structural variants are where assays struggle most, and also where the clinical stakes are highest.
Sequins puts a measurable reference into every sample. Labs can check performance as they go, in the same workflow, on the same instrument and under the same conditions, instead of relying on external standards or checking after the fact.
With regulators paying closer attention and more studies running across several sites, standard internal controls are becoming a basic requirement. Producing sequencing data is no longer enough on its own; labs need to show they can trust it.
The products
Sequins offers five product lines, each aimed at a different type of sequencing work.
Product: ctDNA Technology Access Program
Who it's for: Liquid biopsy assay developers and clinical labs
What it includes: A synthetic ladder of 22 cancer genes at variant allele frequencies from 0.1% to 10%, for setting detection limits and variant thresholds
Product: WGS Clinical Control Set v1.0
Who it's for: Clinical genomics labs
What it includes: Controls based on the ACMG Secondary Findings list, covering 80 clinically actionable genes across cancer, cardiovascular, metabolic and rare disease
Product: WGS Core Control Set
Who's it for: Labs benchmarking whole genome sequencing
What it includes: More than 80 genomic targets, including difficult regions such as homopolymers and GC extremes, structural variants over 50 bp, and background variants
Product: Metagenomics Core Control Set
What it includes: Microbiome and metagenomics labs
What it includes: A defined microbial ladder that mimics a natural community across a wide range of species, for normalisation and comparing runs
Product: Sequins On-Demand
Who's it for: Assay developers
What it includes: Custom spike-in controls for regions the customer chooses
Where Sequins is used
Clinical genomics: validating assays, checking analytical performance and ongoing quality monitoring for whole genome sequencing.
Liquid biopsy and ctDNA: detecting low-frequency variants, setting detection limits and comparing enrichment and sequencing methods.
Whole genome sequencing: testing performance across difficult regions, structural variants and other variant types.
Metagenomics: normalising results and comparing runs in complex microbial samples.
Platform and assay development: comparing library preparation methods, sequencing platforms and bioinformatics pipelines.
What customers say
"In clinical WGS, parallel control samples have always been an expensive compromise. They consume resources but add little clarity about how individual samples are performing. At best, they tell you that the sequencer ran, not whether each patient sample met your quality bar. By adopting Sequins spike-in controls, we can measure library prep, sequencing, and variant calling performance within each sample itself." - Francisco M. De La Vega, former CTO, Galatea Bio Inc., and Adjunct Professor, Stanford University
You can find out more about the product range at sequins.bio.
What it means for hiring
As sequencing becomes part of clinical care, quality, regulation and commercial reach all matter more. Companies like Sequins, and the labs and diagnostics businesses that use them, need leaders who understand both the science and the clinical market. Key roles include:
Commercial leaders who can sell into clinical labs, diagnostics companies and sequencing platform providers.
Quality, regulatory and clinical affairs leaders with experience of genomic assays and diagnostic standards.
Product and scientific leaders who can turn research methods into products labs can rely on every day.
Executives and board members who have grown a genomics or diagnostics tools company across several regions.
With Sequins based in both the US and Australia, leaders also need experience of running teams and markets across regions.
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