Advances in NGS

Vol. 25 No. 11 Page 37

Increased access and decreased costs for NGS leads to a larger role in clinical and research laboratories.

Starting with the introduction of the $1000 Genome project and continuing to present day, genetic applications in clinical medicine have become more accessible and widely available in medical laboratories.1  While this technology has already benefited clinical laboratories, some areas have adapted more quickly than others. For both the research and commercial arms of the healthcare industry, however, advances in genetic options like molecular diagnostics (MDx), massively parallel screening and next-generation sequencing (NGS) have all laid the groundwork for a veritable genetic revolution throughout each of the different departments.

In a recent interview with ADVANCE, AMP professional Relations Chair Roger D. Klein, MD, JD, medical director of molecular pathology at the Cleveland Clinic, spoke to the evolution of genetic applications in technology, the benefits already provided by it and the obstacles to overcome as healthcare continues to evolve.

“It’s difficult to understate the significance and magnitude of the advances that we’ve achieved,” said Klein. “I think, from a patient’s standpoint—in the inherited disease realm, for example—a person can go off and get an exome sequenced. In a medical context, there are companies that will test hundreds of genes for somewhere in the range of a thousand dollars or so. Large gene testing used to cost thousands of dollars, and there are companies that offer testing at far less cost than previously.”

Decreased cost is a major factor in increased (and increasing) access to genetic options in the healthcare industry. The more access for both healthcare organization and the general public, the more this technology can be utilized appropriately in patient treatment and diagnosis. Klein noted that the uptick in availability for NGS and MDx applications has led to a more involved thematic and oncological role of genetic options in both clinical and research laboratories. This has been especially prevalent in inherited disease testing.

“When you look at inheritable disease testing, it’s completely revolutionized the field,” explained Klein. “Rather than look at a phenotype and doing very expensive, very costly tests on a gene-by-gene basis, you have the ability to use massively parallel sequencing—even to the point of looking at, for example, an exome.”

One of the major benefits of an increased presence of NGS in the healthcare industry is the introduction of more targeted drug development in cancer. Unlike classic pharmacogenetics, which uses genetic mutations to select therapies that are tailored to be best metabolized by a prospective patient, targeted therapies focus on specific mutations in an individual patient’s cancer, that is, its genetic makeup. Essentially, these drugs work at the molecular level to correct or compensate for the mutation.

Despite these benefits, there are some areas of concerns for both patients and providers. The study of a patient’s genome can result in what Klein described as “incidentalomas,” which are potential unrelated and sometimes unsolvable issues within a patient’s genome, such as risk factors for inherited diseases. Additionally, the presence of variants of unknown significance can also cloud the information provided. The only way to move past these obstacles, however, is through extensive academic study.

“In the clinical world right now, I think what we’re really doing is trying to bring in the technologies that have reached a sufficient stage in maturity to make them reliable clinically,” continued Klein. “I think, in some respects, the important developments are in the bio-informatics end, which allow us to make these tests more useful and practical in clinical management.”

Big data and the information gathered from MDx, NGS and whole genome sequencing serve as something of a blessing and a curse in the healthcare industry. Although the information provides physicians and clinicians a leg-up when it comes to diagnosing, monitoring and treating disease, subsequently leading to better patient care, there is also an ethical conundrum is handling this information responsibly. The vast amounts of data produced in the process of genetic sequencing must be stored, studied, readily available and, at the same time, unidentifiable for the safety of the respective patients.

“Even aside from, for example, expenditures, which are simply a cost, I think our most profound limitation today is knowledge and how best to effectively implement these technologies,” said Klein. “And I do think that we can’t be oblivious to the idea that one could potentially do harm with a new technology by virtue of the information it provides.”

Among the other challenges facing clinical laboratories as, more and more, genetic options become standardized are payment paradigms and regulatory measures that could limit the availability of these tests. Just as sequencing technology has made strides recently, the healthcare industry has followed suit. As framework is developed and guidelines are put into place to ensure protection for both the patients and providers, however, these issues will take a back seat to questions of data and further advances in genetic screening.


  1. Hayden EC. Technology: The $1,000 genome. Available at:

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