Precision Medicine through Molecular Diagnostics
Written by: 1SOURCE – LABS & MEDICAL SERVICES
How Molecular Diagnostics is Changing Medicine
Molecular biology is not new. Throughout the 1990s, genetics research led to the discovery of new genes and to the development of DNA sequencing techniques that, over time, helped miniaturize and commercialize the testing process.
Today, molecular diagnosis is practical and affordable for use in clinical laboratories, making it a fully integrated part of modern medicine. Molecular tests typically detect unique DNA or RNA sequences. These specific sequences may or may not be associated with disease, but they can inform doctors of drug resistance, genetic predispositions, and the identity of pathogens.
Both the American Board of Medical Genetics and the American Board of Pathology now certify lab techs and lab directors for molecular pathology licenses.
Because the genetic analysis of molecular technique informs doctors of distinct nucleotide polymorphisms and genomic hybridizations, the term precision medicine has come to mean a kind of personalized care so focused that doctors are even able to determine how well certain medicines and doses will work for individual patients.
Clinical applications for molecular diagnostics include:
- Infectious Disease
- Women’s Health
- Oncology (Cancer)
- Prenatal Screening
As molecular techniques continue to advance, they are becoming more common and relied upon, especially as rapid turnaround times have enabled doctors to receive highly precise and specific information quickly, even within the same working day for some tests.
Molecular Diagnosis of Infectious Disease
Molecular diagnostics are becoming the gold standard for the identification of infectious disease, overtaking traditional serological tests. Genetic analysis allows for the detection of microbial phenotypes, including characteristics like protein, bacteriophage, bio-typing, and susceptibility testing.
The advantages of molecular technique over serology include its sensitivity, allowing for the detection of pathogens at a much lower level. The ability to find infections early and to identify the infectious agent with genetic precision gives doctors a critical advance in providing for good patient outcomes.
Blood screening using serological techniques alone rely on seroconversion, the generation of antigens in significant enough amounts to trigger the patient’s immune system.
Molecular analyses are faster, and with real-time polymerase chain reaction (PCR) techniques, clinicians are able to rapidly detect nucleic acids with diagnostic effect. One of the most effective areas for real-time PCR has been the diagnosis of infectious disease and emerging diseases, from new strains of flu to infectious uveitis.
Specificity in identifying viruses is of great importance too, with one example being human papilloma virus infection (HPV). Some strains of HPV are known to correlate with a high incidence of cervical cancer, while many other strains are known to be virtually harmless. Important decisions in treatment are therefore guided by the precision of information available with molecular methods.
PCR based diagnoses even allow for detection of unculturable or difficult to culture (fastidious) infectious agents. By detecting microorganisms at the nucleic acid level, the benefits of molecular diagnostics can be seen in the pre-symptomatic detection of disease and early, efficacious treatment.
At 1SOURCE, our scientists are trained in a variety of essential disciplines, including molecular genetics, microbiology, cytogenetics, biochemistry, and pharmacology. To learn more about what the experts at 1source bring to the field of infectious disease detection using molecular diagnostics, call us today at 602-237-6460 or complete our contact form.
Women’s Health
Personalized and predictive testing come into strong focus when it comes to women’s health. From cervical and breast cancer screenings to prenatal health and carrier testing (identifying risk for genetic disorders that show up later in life), molecular techniques not only provide early warning, but offer insights to women and their doctors which can affect treatment and guide decisions.
Group B Strep and HPV testing are both good examples. While many strains of human papilloma virus are harmless, identifying HPV 16 and 18, thought to be responsible for 70% of cervical cancers, can be of profound impact on a woman’s health.
Similarly, Group B strep (GBS) is silently present in 25% of women. With no symptoms and no health effects generally, GBS can nevertheless pose a health risk when it comes to a woman’s newborn contracting an infection. Molecular diagnostics provides women and their doctors the opportunity to identify an otherwise unseen risk and take preventative measures. In the case of GBS, that can mean intravenous antibiotics during labor.
At 1SOURCE, our women’s health screening includes tests for:
- Liquid-based PAP screening
- Human papillomavirus (HPV)
- Vaginitis
- Sexually transmitted infectious disease
- Prenatal carrier genetics.
Surgical pathology services are also available, including breast and urine cytology services.
All Solaris testing adheres to the guidelines of the American College of Obstetricians and Gynecologists (ACOG) and the ASCCP.
Molecular Diagnostics and the Future
As the last decade has shown, molecular diagnostics is more than a cutting-edge promise of future medicine. Molecular techniques have become fully integrated into patient care and are being used to bring a heretofore unavailable level of data, based on genetic analysis, to both understanding an individual’s pathology and prescribing treatment.
For this revolution to have occurred, it was necessary for the sciences of molecular biology and genomics to move beyond the research bench and toward routine availability, affordability, and the fast turnaround times that make molecular diagnostics a go-to tool for the widest possible range of uses.
Initially quite expensive and time-consuming, the now widespread availability of molecular diagnostics has brought the costs of many tests down and new technologies have reduced the turnaround times on some tests to mere hours.
A key component to be considered in all cases is the level of training, experience, and customer service available at any molecular diagnostics laboratory. The complexity of the information available means there is always an advantage to having access to skilled scientists and pathologists whose ability to interpret findings can make all the difference in taking the step from exceptionally precise test data to unparalleled patient care.
For more information on our Molecular Diagnostics Panel, visit our Panels page, or call 602-237-6460 to speak with one of our staff. You may use the form on our Contact Us page.
1SOURCE is committed to remaining on the cutting edge of diagnostic medicine, continually advancing our testing capabilities by introducing the most advanced and comprehensive techniques, for the benefit of the clinicians who use our services and the patients who rely on us both for accurate diagnoses and the most effective treatments.
