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Diagnostics Precision medicine, Omics, Genetics and epigenetics

In-House Matters

sponsored by Pierian

When it comes to next-generation sequencing (NGS), does it matter whether testing is kept in-house or outsourced to centralized laboratories? You might think not – after all, the results should be the same either way. But genomics is a complex discipline and the discussion is equally nuanced.

At the University of Vermont Health Network’s inaugural Genomic Medicine Program and Laboratory, we conduct extensive molecular testing for cancer diagnosis, prognosis, and treatment – and we’ve found that in-house testing really does make a difference.

The strategic benefits of on-site NGS

Simply put: local practice matters. Healthcare delivery relies on operational models that differ based on location. Incorporating genomic information equitably at the point of care requires a thorough understanding of local practices and systems. A key benefit of investing in an on-site service is having a “champion team” to navigate the local landscape across the laboratory, the clinic, information technology and information services, and leadership. And that’s how you build a robust service to support next-generation sequencing (NGS)-based testing.

Additionally, if an organization invests in local NGS with a vision of delivering precision care, it shows forward-thinking leadership, which attracts forward- thinking talent, inspires confidence, and breaks ground with respect to expanding genomic literacy internally and in the regions they serve.

The clinical benefits of on-site NGS

An on-site service, when implemented correctly, provides patients with two key things. First, it gives them a steward of their tissue – an extracorporeal extension of themselves – as it moves through the healthcare system. And second, it builds care pathways that support equitable access to testing when clinically indicated. Pathology and laboratory medicine professionals are perfectly positioned to establish tissue workflows that optimize successful portfolios of testing on small samples. As a result, on-site genomic professionals who understand the nuances of NGS can educate their healthcare colleagues and champion efforts to establish critical clinical workflows and informatics systems that deliver usable genomic information to the point of care. It’s this work that really makes a difference for patients.

The financial benefits of NGS

There is mounting evidence that, when implemented responsibly, genomic information improves healthcare outcomes without increasing the overall cost of care.

There’s no denying that insourcing NGS and the professional service it requires is expensive, but classic financial models cannot show the return on investment from such a service – and that’s unlikely to change until testing is reimbursed appropriately and reimbursement models account for the value of the service. Nevertheless, it is important to be up-front about resources; the required equipment is an obvious investment, but it’s also wise to seek out those with experience to find out what you might not be thinking of. Planning for – and thereby ensuring expertise in – clinical informatics, business planning, project management, test utilization, ancillary interpretation support, and support for longitudinal professional educators is a foundational element often underestimated when insourcing NGS.

Much of the success of genomic testing is measured by i) equitable access to genomically informed care as recommended by professional practice guidelines and ii) return on investment. Controlling healthcare delivery costs rests on the implementation of services – both educational and clinical – supporting NGS-based assays. In my opinion, this is optimally achieved by investing in on-site NGS.

The in-house key

Pathologists and laboratory medicine professionals are uniquely qualified to champion the delivery and service of genomically informed care within a precision medicine ecosystem – especially when they’re invested in all of the components of operationalizing in-house NGS. It is incumbent on us to educate about and advocate for the value of the expertise that informs complex assay development and related laboratory workflows. We’re also best placed to show that our exper tise ultimately anchors and propels healthcare as a whole – and that it’s our input that can help build and sustain high-quality services to support NGS assays. In that way, it’s the pathologists and laboratory medicine professionals themselves who ultimately drive the undeniable return on investment of in-house NGS.

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About the Author
Nikoletta Sidiropoulos

Associate Professor and Director of Molecular Pathology, Department of Pathology and Laboratory Medicine, University of Vermont Health Network, Burlington, Vermont, USA.

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