In a field as complex and demanding as molecular biology, scientific advancements depend on technological innovation as well as rigorously designed and vetted instruments. Developing new and exciting technologies can facilitate many new research possibilities, but the process often requires input from the research community and the end users performing the work. This is the space where design and application truly interact, putting pressure on each other to reach new milestones.
Fortunately, we’ve progressed beyond the time when Bunsen burners were the peak of biological research tools. Cutting-edge tech for cell culturing, PCR applications, and next-generation sequencing (NGS) platforms are pushing the boundaries of precision in genetic research and diagnostics. These technologies enable researchers to perform critical work in fields like oncology, personalized medicine, and gene therapy, where rapid detection of genetic mutations, rare variants, and biomarkers are crucial. This article will provide insight into recent innovations and collaborations to discover where we might be heading.
Locking out contamination
Despite best efforts and practices, contamination of equipment and cell cultures remains a lingering problem in the molecular lab. Persistent incubator infections can ruin experiments by introducing unwanted microorganisms, such as mycoplasma, that alter cellular behavior, leading to unreliable data and loss of valuable samples.
To combat this pervasive issue, Thermo Fisher Scientific has produced the Cell Locker System (CLS), an elegant solution for preventing cross-contamination within a CO2 incubator. The CLS functions as the name implies: it provides a single unit consisting of six to eight isolated, airtight compartments that fit directly inside the company’s Heracell™ VIOS™ 160i and Forma SteriCycle i160 CO2 incubators. The lockers within the CLS are modular and provide a controlled microenvironment with individual airflow and stable environmental conditions. Perhaps most importantly for busy labs with diverse projects and a lack of space, the CLS maintains environmental controls for each locker and protects cultures from disturbance when other lockers are opened. Furthermore, each locker is made from autoclavable polycarbonate and chemically resistant materials specifically chosen for common CO2 incubator environmental conditions. When combined with the stability and anti-contamination features of Thermo Fisher’s incubators, such as all-copper interiors, the CLS is a boon for cell-based research.
Collaborations and multiplexing increase the usefulness of Droplet Digital PCR
Throughout its short history, there have been multiple shifts in the application and quality of PCR technologies. Droplet Digital PCR (ddPCR) is the current gold standard due to its precision, superior sensitivity, and ability to easily determine absolute quantification of nucleic acids. The QX600 ddPCR system from Bio-Rad contains a variety of modern innovations. The QX600 increases throughput and decreases downtime by allowing for multiplexing with the use of six-color detection, which enables simultaneous examination of 12 targets in a single well. This reduces the amount of sample material needed to produce meaningful data, an especially important benefit when working with low abundance or precious samples, such as circulating tumor DNA. This multiplexing capability makes it a crucial technology for diagnostic genetic work including examining complex gene environments, such as in oncology research, where rapid detection of DNA mutations and structural variants is paramount for patient’s health outcomes.
Cutting-edge tech for cell culturing, PCR applications, and next-generation sequencing platforms are pushing the boundaries of precision in genetic research and diagnostics.
Since the introduction of the QX600 in 2022, Bio-Rad has engaged in collaborations with researchers to develop advanced applications and kits for monitoring human health. In April 2024, they released the ddPLEX ESR1 Mutation Detection Kit, offering streamlined same-day detection of seven critical ESR1 mutations, which is an important diagnostic target in cases of hormone receptor-positive breast cancer, which makes up about 70 percent of breast cancers. Similarly, Bio-Rad and Oncocyte Corporation (OC) are working together to commercialize OC’s GraftSure assay, which is a non-invasive blood-based kit that can monitor organ damage in transplant patients by detecting donor-derived cell-free DNA. These products, and others like them, will continue to cement ddPCR as a foundational diagnostic tool.
Is the $100 genome landmark finally at our fingertips?
Earlier this year, Ultima Genomics claims to have met the goal of the $100 genome when introducing their new UG 100™ sequencing platform, which is based upon an innovative open silicon wafer technology that replaces traditional flow cells. These wafers provide an open substrate made from silicon that does away with confined flow cells and massively expands the number of DNA fragments that can be analyzed on a single wafer to significantly increase the throughput while cutting down on the cost of reagents. Other fluidic errors, like clogging that can happen in flow-cell based systems, are also mitigated, making results consistent and more reliable, further driving costs down. Ultima also introduced its ppmSeq™ technology for use on the UG 100™, a rare-event detection methodology that achieves high accuracy by using a dual-strand sequencing method to reduce errors common to other platforms. The increased accuracy is promising for fields like oncology where reliable rare mutation detection can help save lives.
Though only being officially available within the last few months, the applications for this sequencer have already been significant. For example, Ultima Genomics has collaborated with Myriad Genetics to utilize the platform in both oncology and reproductive genomics. One of the first major developments of this collaboration is the introduction of Myriad Genetics’ FirstGene Prenatal Screen, which combines multiple prenatal screens into a single sequencing workflow. This kind of analysis benefits greatly from the reduced cost, but also the accuracy that is provided through the ppmSeq™ technology.
Shaping tomorrow's science through technological innovation
It’s long been clear that the greatest technical advancements in molecular and cellular biology are often driven by societal needs and buoyed by the development of innovative technologies paired with targeted collaborations. By working directly with researchers using the equipment, manufacturers and development teams address the technical and scientific needs of their user base. Going forward, it will be exciting to see the innovation that is borne out of the combination of expertise and real-world needs.
