Advances in Human Genotyping Arrays


insights from industryRob Brainin
Vice President & General Manager
Applied Genomics, Illumina
In this interview, News Medical talks to Rob Brainin from Illumina about human genotyping arrays and how they are advancing.

Can you please give an overview of Illumina’s Infinium® Global Screening Array (GSA)?

Illumina sees a widespread demand for genotyping products and a continued relevance of arrays in human disease and translational research.

The Infinium® Global Screening Array is a tool for population scale genomics and screening, combining a highly optimized, universal genome-wide backbone, hand-curated clinical research variants, and sample tracking content. It is highly economical in enabling the interrogation of large numbers of samples.

The clinical research variants on the array have been designed against the breadth of functional variation and include known associations, pharmacogenomics content, and well-curated exonic content.

Additionally, quality control (QC) and high value content has been added to enable the sample identification, tracking, and stratification necessary for large-scale genomics and screening applications.

All in all, it is a versatile tool to enable a significant amount of relevant information for clinical researchers and those who are looking to do broad-scale GWAS studies.

Illumina.1

© Illumina

How was the GSA developed and what benefits does it have over previous arrays?

The GSA was developed in collaboration with leaders in the fields of genetics, population research, and clinical research with global participation from more than 200 individuals from 55 institutions.

The genome-wide backbone includes universal content that covers all of the world’s super populations. Curation of the clinical research content (much of it hand-curated) focused on identifying variants with known associations as well as those with strong evidence of associations.

Compared to previous arrays, the GSA offers a way to access cutting edge content, including:

  1. Genome-wide coverage optimized for imputation and based on the most up-to-date sequencing data;
  2. Expertly selected clinical research content, which enables research and screening applications using variants associated with pharmacogenomics, known diseases, HLA, and well-curated exonic content; and
  3. Economics that enable the interrogation of large numbers of samples.

Who is the GSA aimed at and what take up have you seen so far?

The GSA was built for clinical research, population-scale genomics, and screening applications.  So far, we have seen a broad adoption across multiple customer segments, including population research, healthcare networks, pharmaceuticals, consumer genomics, and service providers.

Illumina.2

© Illumina

Were you surprised by the early adoption of the GSA?

In many ways, no, because we worked so closely with collaborators that we knew we were picking the content that would be most relevant to the community.

What has surprised us is how broad the appeal has been, both in terms of geography and in terms of breadth of user.  While we expected it to be popular, the extent of uptake exceeded our expectations and orders continue to come in.

What feedback have you received so far?

Researchers feel that the content on the array will map very well to their needs.  They are excited to begin using the product to accelerate their work.

How does this array differ from others on the market?

The GSA is the first array built with large-scale clinical research and screening in mind and offers advantages in both content and workflow compared to other arrays on the market.

In terms of content, the GSA was built to be a universal array that could be used across the world allowing for global collaboration and large-scale meta-analyses.  It also contains expertly selected clinical research designed to meet the needs of clinical research and screening applications.

In terms of workflow, the GSA uses the high-throughput Infinium HTS workflow, which enables labs to cost effectively process large volumes of samples and efficiently scale their labs as sample volumes increase.

What impact do you think such arrays will have on personalized medicine moving forward?

The impact will be significant, but may take a few years to materialize.  One of the hardest challenges of doing genome-wide association studies (GWAS) is getting enough samples to draw statistically relevant and meaningful correlations between a genotype (what an individual’s genetics is) and a phenotype (what trait is displayed).

With the economics of the array driving the ability to interrogate an increasingly large number of samples, the rate of progress in drawing impactful correlations should increase significantly.

Once those correlations are established, the ability for clinicians to subsequently test for them will accelerate the adoption of personalized medicine into areas far beyond the limited applications being utilized today.

What do you think the future holds for human genotyping?

Genotyping will remain an important tool in our ability to improve human health through genomics.

While genomics sequencing will be increasingly important in health settings such as oncology and non-invasive prenatal testing where knowing the exact sequence is so critical, genotyping will continue to serve as a cost-effective tool for basic screening applications and applied clinical research.

What’s Illumina’s mission?

Illumina is a global company with a mission to unlock the power of the genome to improve human health.

Where can readers find more information?

Illumina’s website is a great resource for more information.  Our human genotyping solutions can be found here: http://www.illumina.com/techniques/microarrays/human-genotyping.html.

We also have genotyping specialists around the globe whose job it is to help users select the content that is most appropriate for them.

About Rob Brainin

Rob Brainin

Rob Brainin is Vice President and General Manager of Illumina's Applied Genomics business, where he oversees the company's Life Sciences and applied markets including complex diseases, agrigenomics, microbiology, forensics, and HLA typing.  He joined Illumina in 2015.

Prior to joining Illumina, Brainin was Vice President and General Manager of the Enterprise Genomics Solutions Business for Thermo Fisher Scientific, where he partnered with governments, foundations, thought leaders and global corporations on large-scale genetic analysis projects to drive genomic medicine toward the clinic.

He joined Thermo Fisher Scientific following the company’s acquisition of Life Technologies, where he held leadership positions in molecular, protein and cell biology.  He also held various positions at Invitrogen, Gateway, and McKinsey & Co.

He earned his B.A. in Economics from Emory University, and his J.D. from Harvard Law School.

April Cashin-Garbutt

Written by

April Cashin-Garbutt

April graduated with a first-class honours degree in Natural Sciences from Pembroke College, University of Cambridge. During her time as Editor-in-Chief, News-Medical (2012-2017), she kickstarted the content production process and helped to grow the website readership to over 60 million visitors per year. Through interviewing global thought leaders in medicine and life sciences, including Nobel laureates, April developed a passion for neuroscience and now works at the Sainsbury Wellcome Centre for Neural Circuits and Behaviour, located within UCL.

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