Precision medicine brings sequencing to the clinical lab

2019 10 24 21 35 9053 Lab Scientist 400

Precision medicine and other applications are driving demand for next-generation sample preparation techniques in a market worth $1.8 billion in revenue in 2018, with double-digit growth expected over the next five years, according to a new report from business intelligence firm Strategic Directions International (SDi).

Market projections incorporate nucleic acid extraction from biological materials, fragmentation of nucleic acids into smaller pieces, and the preparation of sequencing libraries.

The medical field is evolving as treatment models shift away from the traditional one-size-fits-all approach aimed at the average patient. Precision medicine, also called personalized medicine, is gradually becoming the new model for medical diagnosis and treatment. Under this model, treatments are tailored to the individual characteristics of each patient and disease, taking into account underlying genetics and biomarkers that could serve as therapeutic targets. To this end, the pharma/bio sector has rushed to develop highly targeted therapeutics, working closely with collaborators to characterize and validate treatment targets.

Sequencing has been the driving technology to make this possible, both in terms of diagnosis and the development of targeted therapies. Next-generation sequencing (NGS) has had an enormous impact on life sciences and medicine since its commercialization over a decade ago.

As the technology has matured and become more accessible and affordable, the use of NGS has expanded beyond the lab to the medical diagnostics space. NGS has enabled the accelerated understanding of the genetic basis of many diseases and the development of advanced, targeted therapeutics. Patients are now beginning to benefit from these advances directly.

Government initiatives weigh in

The advancement of precision medicine has been supported by governments around the world. In 2015, the U.S. launched the Precision Medicine Initiative, renamed All of Us, which aims to "understand how a person's genetics, environment, and lifestyle can help determine the best approach to prevent or treat disease." China launched its Precision Medicine Initiative in 2016, with $9.2 billion in funding over 15 years. These and similar projects underway around the globe involve huge sequencing components, which together will generate data for millions of human genomes.

Thus far, the U.S. has led the market adoption of precision medicine, with clinical labs offering sequencing services for tissue and liquid biopsy samples, prenatal testing, and more. The U.S. Food and Drug Administration has cleared several sequencing assays for molecular diagnostics, but the majority of assays are conducted as laboratory-developed tests. Demand is rapidly growing as third-party payors become more willing to accept sequencing assays.

Tremendous opportunities

The increasingly routine use of sequencing in clinical settings is creating tremendous opportunities for suppliers of sequencing instrumentation and consumables, including those required for the preanalytical preparation of samples from biological materials.

In the clinical lab, NGS, like all assays, is subject to validation at all steps to recognize and address variables that may affect analysis. This is very important even for preanalytical sample preparation because variables will carry forward to affect the sequencing and postsequencing bioinformatics stages. Variables that must be considered include how the sample was collected and fixed and sample quality, both of which will affect the selection of an appropriate library prep kit.

For instance, the standard for preserving tissue biopsy samples is formalin-fixed, paraffin-embedded (FFPE). But formalin fixation causes crosslinking, resulting in artifacts in downstream analysis. Sample quality includes an assessment of the pathological composition of the sample, since tissue biopsies may contain a mixture of normal tissue and tumor cells in varying proportions. Using an appropriate library preparation kit can mitigate some of these variables, such as a kit that is designed for FFPE samples and optimized for low-frequency variants.

Andrew Appel is manager of market analytics at SDi. More information is available in the report "Sample Preparation for Next-Generation Sequencing: Nucleic Acid Preparation, Fragmentation, and Library Preparation."

Disclosure: is a sister company of SDi.

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