Size doesn’t matter

Aubree Hoover reveals why labs large or small can benefit from the latest in LIMS.

It turns out that rare diseases aren’t so rare. Because of an estimated 5,000-8,000 rare diseases, 1 in 17 people are affected. As our lifespans increase, cancer becomes less of a rarity as well. To combat these inevitabilities, Genomics England, a company owned and funded by the UK Department of Health, recently announced a monumental project to sequence 100,000 genomes of people with cancer and rare diseases.

To sequence 100,000 human whole genomes by the end of 2017, Genomics England has assembled an impressive set of tools: Illumina HiSeq X Ten genome sequencers; Clarity LIMS for laboratory information management; NextCode for analysis; Aridhia for annotation; and likely others. These tools will help the company rapidly scale to factory-level production; provide fast, accurate and private results to patients; and analyse and annotate the data.

Genomics England has been forthcoming about anticipated challenges: sequencing that many genomes in the timeline specified, security of patient data, and translation of findings to the public. The world will be watching as it navigates these challenges and undertakes this first-of-its kind project. 

Not all projects are this massive in profile or size. Groundbreaking science –that helps diagnose and treat rare disease and cancer – takes place in start-up, core, academic or smaller clinical labs every day. 

These labs face similar challenges as the Genomics England project. They need flexibility; they have a unique collection of tools. When technology and science advance, their tools must adapt and help manage change. They also need scalability – they may not need to scale to 100,000 whole genomes in five years, but they will likely add services or increase sample volume. Their existing tools should scale to whatever their sample throughput. Next, they must protect their investments: resources are tight and labs need to stretch their staff, reagent and instrument resources as much as possible. Finally, they need tools that work in research or clinical environments. Many labs will be adding clinical applications to their sequencing line-up. They need tools that protect patient data privacy and support sequencing in a clinical or translational environment.

Yet, unlike Genomics England, they often don’t have as many resources. Enter the new era of laboratory information management systems (LIMS). Many labs resist the notion of a LIMS as it conjures the rigid and clunky systems of yesteryear. Additionally, many labs think LIMS are appropriate only for projects of the same magnitude as Genomics England. This simply isn’t true.

LIMS have come a long way, and good ones can help labs of any size (regulated or not) address challenges. Out-of-the-box instrument integrations can help labs scale to new technologies and increased sample volumes. Configurable workflows and application programming interfaces (APIs) can help labs customise to their environments. QC features help labs monitor instrument performance and reagent use. And regulatory features help labs operate in a clinical environment if necessary. So, whether Genomics England or a start-up in some small corner of the world, the science is equally important and a good LIMS can help.

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Aubree Hoover is with GenoLogics Life Sciences Software in the USA.

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