Molecular diagnostics—achieving high quality patient care at scale

June 29, 2017
By Matthew J. Hawkins,
Former CEO/President, Sunquest Information Systems

The numbers don’t lie. Costs for molecular diagnostics, including genetic testing, are on the rise.  A recent article reported that genetic test costs have been increasing by 15 to 20% annually. In 2016, estimated sales of molecular and genetic tests totaled $11 billion.

Nevertheless, forward-thinking healthcare organizations are forging ahead with plans to grow their molecular diagnostics programs. Why? Because an efficient, scalable testing program can drive gold-standard patient care and lower costs.

That assertion may be surprising to hospitals and other healthcare facilities accustomed to paying thousands of dollars per test when sending out to a reference laboratory. In some cases, those high costs may have influenced health systems to limit molecular testing, despite the potential of precision medicine to improve health and save lives.

What they may not realize is that both molecular testing technology and medical knowledge have advanced dramatically. More efficient bioinformatics designed especially for molecular processes and interpretation put starting or scaling molecular testing well within reach for many hospitals and healthcare facilities.

Efficiencies in the wet lab

Introducing more complex molecular processes into a clinical lab’s workflow certainly means introducing more elements to track. Clinical accuracy and audit trails for regulatory compliance require clear, easy-to-follow documentation of every batch, vial, instrument, technician, and turnaround time as well as the relationships between the offshoots of single sample. If this documentation becomes a bottleneck for laboratory technicians, scaling molecular tests will be nearly impossible.

A laboratory information management system (LIMS) that captures this information automatically can make the difference. Technicians can focus on their primary tasks, reducing turnaround times and allowing a lab to process a growing volume of tests. A sufficiently flexible LIMS will also permit a lab to maintain its existing workflow rather than adding or rearranging steps to fit the new technology.

Efficiencies in the dry lab

When working with genetic information, technicians and geneticists deal with variants that can number in the thousands or even the millions. Filtering set down to the fraction has diagnostic value for an individual patient—then annotating and interpreting those findings—can be a labor-intensive and expensive process. Some analysts speculate that by the end of the decade more than half of a lab’s Next Generation Sequencing costs will be allocated to biological interpretation.

Intelligent filtration, annotation, and interpretation processes can bring this down to a manageable scale, highlighting relevant variants and applying a curated knowledge base to generate detailed reports to be completed and verified by the technician or pathologist. With much of the background work complete, labs spend less time filling out reports and more time working on diagnostic interpretation.

Courtesy of Sunquest Information Systems

Improving outcomes while cutting costs

The number of patient concerns that can be effectively addressed by precision medicine grows seemingly by the day. Genetic testing has become standard treatment for cancer care, with techniques including preventative testing for high-risk mutations to identify molecular characteristics of tumors to find targeted treatments. Given the high cost of modern cancer therapies, prescribing the right drug to the right patient at the right time may save hundreds of thousands of dollars.

Rapid diagnosis of genetic disorders in newborns can save lives and prevent long-term complications, making molecular diagnostics increasingly common in children’s hospitals. Interventions based on discoveries in the molecular lab accelerate the time to effective treatment, potentially reducing expenses while improving patient outcomes.

Another exciting and cost-saving function of a molecular lab is pharmacogenetic testing. These tests can help identify patients likely to suffer adverse reactions to anesthetics or pharmaceuticals such as blood thinners. Many patients know the frustration—and the expense—of a trial-and-error approach to an elusive problem. Even when molecular testing doesn’t identify a specific treatment, it can end the stress and uncertainty of this approach and prevent patients from undergoing testing that is more invasive and more expensive.

Putting it all together

In sum, advances in medicine and technology have made in-house molecular testing labs affordable and efficient in three key ways:

  • Tools that manage complexity reduce manual labor and turnaround times so labs can grow their volume to a level that is not only viable, but profitable.
  • Intelligent processes for filtration, annotation, and interpretation allow labs to reduce time spent on report generation, so they can focus on diagnostics and clinical relevance.
  • Targeted treatment, early intervention, and prevention of ineffective or counterproductive care minimizes needless expenses and improves patient outcomes.

These advances offer tremendous opportunities to hospitals and other healthcare facilities to stay at the leading edge of their communities by providing high quality, personalized care. An in-house molecular lab also provides better continuity of care and faster results. Sunquest’s white paper, Molecular Diagnostics for Healthcare Facilities: How to Start and Scale an Efficient Testing Program, explains how organizations can expand their testing capabilities without overwhelming their current lab personnel or their budget.

Much has changed since genetic testing was the province of university researchers in a low-tech laboratory. Because of today’s intelligent technology, there has never been a better time for healthcare facilities to start or scale their molecular capabilities.

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