Special journal issue showcases clinical genomics research that is revolutionizing health care
The use of genomic testing in clinical practice, once thought to be a distant goal, is now a reality that is profoundly impacting medicine. A special issue of the Association for Diagnostics & Laboratory Medicine's (ADLM's, formerly AACC's) Clinical Chemistry journal spotlights the breaking research from laboratory medicine experts that is driving this field forward—and that is set to transform diagnosis and care for medical conditions across the board.
Clinical genomics uses testing to learn about a person's genetic makeup in order to help predict, prevent, diagnose, and treat disease. This field has advanced dramatically over the past few decades thanks to developments in genomic sequencing technologies and bioinformatics, and an ever-deepening understanding of the human genome.
Maternal-fetal medicine is one area in particular where these advances are significantly improving care. Cell-free DNA testing has already made it possible to use a simple blood test to screen babies in utero for chromosomal abnormalities that could previously only be detected using invasive techniques.
One study in this special issue of Clinical Chemistry shows that cell-free DNA tests can also accurately detect so-called single gene disorders. Single gene disorders have historically been difficult to detect early in pregnancy, and being able to do so with cell-free DNA testing would offer patients and providers valuable information for devising early intervention strategies.
Clinical genomics is also driving progress in newborn screening. For example, standard newborn hearing screening can miss mild cases of hearing impairment, as well as cases of later-onset hearing impairment or deafness. This leaves these infants at risk for unrecognized hearing impairment or deafness, which can impact long-term language, communication, and social development.
A review in this special issue explores how genomic testing could enable these infants to get timely care by improving the diagnosis of congenital hearing impairment and deafness. Furthermore, the review makes a case for genomic screening for these conditions in all newborns.
Another area of health care where genomics is making an impact is infectious diseases. Genomic testing has become essential for understanding and managing pathogens. This is underscored by a new study in this special issue that shows that genetic testing could be used to determine which drugs will—and won't—work for patients with Candida auris (C. auris), a multidrug-resistant yeast that causes life-threatening disease. These findings could improve treatment for C. auris infections by enabling patients to start taking effective antifungal agents sooner.
"From innovative diagnostic technologies to ethical considerations in neonatal and pediatric genomics, this is an overview of current genomic medicine today as well as where it is headed," wrote issue editors and genomics experts Drs. Christina M. Lockwood, Heather Mason-Suares, Ann M. Moyer, Pavitra Roychoudhury, and David H. Spencer in the preamble to the special issue.
"As we continue to unravel complexities of the human genome and its interaction with pathogens, medications, and the environment, the integration of additional innovative technologies in clinical practice promises to deliver more precise, personalized, and effective care for patients worldwide."
More information:
Christina M Lockwood et al, Clinical Genomics: Current and Emerging Trends, Clinical Chemistry (2025). DOI: 10.1093/clinchem/hvae191
Provided by Association for Diagnostic and Laboratory Medicine (ADLM (formerly AACC))