Newswise — WASHINGTON – Molecular diagnostics is a powerful branch of laboratory medicine that examines the fundamental genetic and biochemical components of life to provide invaluable insights into health and disease. This special issue of the Association for Diagnostics & Laboratory Medicine’s (formerly AACC’s) The Journal of Applied Laboratory Medicine highlights the latest research in this field that could advance care for conditions ranging from infectious diseases to inherited disorders. 

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While laboratory medicine experts have used molecular diagnostic methods for years to diagnose and monitor disease, this field continues to evolve rapidly, and has become more relevant than ever in the face of modern healthcare challenges. The COVID-19 pandemic is the most striking recent example of the central role of molecular diagnostics in global health. PCR tests are a type of molecular diagnostic test and, as is well known, have been crucial to controlling the spread of SARS-CoV-2. And pandemic management isn’t the only area of infectious disease testing that molecular diagnostic technology is revolutionizing. Sequencing cell-free DNA in blood samples has the potential to improve infectious disease evaluation and treatment, and is explored in a study published in this special issue.

Broadening access to personalized medicine is another goal of modern healthcare that wouldn’t be possible without molecular diagnostics. The ability of molecular diagnostics to help tailor treatment to each patient’s unique biological makeup is most evident in the field of pharmacogenomics. Lab experts use molecular diagnostic methods to identify genetic markers that affect drug metabolism and efficacy—information that providers then use in turn to prescribe medication that has the highest likelihood of benefiting patients. Technologies such as next-generation sequencing (NGS) have the potential to increase the availability of pharmacogenomic information, and a review in this special issue of The Journal of Applied Laboratory Medicine discusses how clinical laboratories can implement NGS for this purpose.

One other compelling use for molecular diagnostics that is showcased in this special issue is genomic population screening, which has the potential to shift the healthcare paradigm from reactive to proactive. In many countries, programs are already being piloted at population scale that detect genetic diseases prior to symptom onset, thereby enabling preventive treatment. A review article in this special issue examines important practical considerations that must be taken into account as such programs expand, such as their economic benefit and the development of policies to guide them.

“In the grand tapestry of modern healthcare and precision medicine, molecular diagnostics stands as a vibrant thread, woven with the promise of better patient outcomes, cost savings, and a deeper understanding of the molecular underpinnings of health and disease,” wrote issue editors and molecular diagnostic experts Drs. Nikoletta Sidiropoulos, Eric Vail, Erin H. Graf, Ann M. Moyer, Jillian G. Buchan, and Valentina Nardi in the preamble to the special issue. “It is our hope that the content of this issue will conjure professional reflection and spark collegial discussion in the community to embrace current practices and address and overcome current and future challenges so that the field may continue to improve human health and well-being.”


About the Association for Diagnostics & Laboratory Medicine (ADLM)

Dedicated to achieving better health through laboratory medicine, ADLM (formerly AACC) brings together more than 70,000 clinical laboratory professionals, physicians, research scientists, and business leaders from around the world focused on clinical chemistry, molecular diagnostics, mass spectrometry, translational medicine, lab management, and other areas of progressing laboratory science. Since 1948, ADLM has worked to advance the common interests of the field, providing programs that advance scientific collaboration, knowledge, expertise, and innovation. For more information, visit

The Journal of Applied Laboratory Medicine ( is published online by ADLM. This international, peer-reviewed publication showcases applied research on clinically relevant laboratory topics as well as commentary on the practice of clinical chemistry and laboratory medicine. 

Journal Link: The Journal of Applied Laboratory Medicine, Jan-2024