Molecular diagnostics: the road ahead

Nov. 20, 2014

Molecular diagnostics, as a key component of personalized medicine, is here, and here to stay. This issue’s Continuing Education story features three articles under the broader heading “Molecular Diagnostics in the Clinical Lab” that emphatically make that point. 

Certainly, there are issues that are affecting the pace and comprehensiveness of the  adoption of molecular diagnostics: individual labs’ needs and clientele, initial and ongoing costs, and, especially, ICD-10 coding and insurance coverage. As the benefits of molecular diagnostics both for the care of individual patients and for community health management become increasingly apparent, however, it will surely be widely embraced as part of twenty-first century healthcare. 

As Dr. George Maltezos sums up in the first of the three CE articles: “Molecular diagnostic test methods that utilize PCR technology positively impact patient care by delivering high sensitivity and specificity and fast turnaround time. Simple operation has reduced user training needs, moving the technology out of the CLIA high-complexity lab. Technology is driving toward long-term temperature stable reagent storage, lower cost-per-test, higher vessel throughput, smaller instrument size, and faster time to result. The future looks promising….”

I had this in mind recently as I read a news release that recently came across my desk titled “Experts provide much-needed policy analysis for clinical integration of next generation sequencing.” The release described a special policy issue of The Journal of Law, Medicine & Ethics which can be read in its entirety at  

Experts with the Center for Medical Ethics and Health Policy at Baylor College of Medicine served as editors of this special issue, which addressed a variety of topics that are compelling and controversial. After a general introduction, four experts weigh in on a host of policy challenges facing clinical integration that must be addressed before genomic sequencing is available for routine clinical use. The titles of the four reports in the special issue describe their important content: “Regulation of Next Generation Sequencing”; “Clinical Integration of Next Generation Sequencing: Coverage and Reimbursement Challenges”: Patients and Genome-Wide DNA Sequence Analysis: Is It Safe to Go into the Human Genome?” and “Economic Regulation of Next Generation Sequencing.” It is fascinating reading about the challenges that face policy makers and clinical labs in a future that has arrived.

The introduction to the special issue, “Clinical Integration of Next Generation Sequencing: A Policy Analysis,” recalls a comment made in 1996 by then-President Clinton about a just-emerging technology: “I think it won’t be too many years before parents will be able to go home from the hospital with their newborn babies with a genetic map in their hands that will tell them, here’s what your child’s future will likely be like.” President Clinton’s words were both visionary and naïve; things quickly became more complicated than that. Scientifically, clinically, ethically, legally, economically—there are still a few kinks to be worked out. 

MLO is committed to helping readers keep up-to-date with molecular diagnostics as it grows in utility in the lab and in the healthcare system as a whole. We will continue to offer perspectives on genetic sequencing to diagnose infectious disease, cancer, and more; to predict the effectiveness of chemotherapy; to predict “your child’s future” (or yours); and for other purposes that are emerging today—and tomorrow.