June 24, 2022
"I’m not seeing any function in your daughter’s kidney," the doctor stated. "There are several cysts." These were the words that came out of my doctor’s mouth during my 20-week anatomy ultrasound. Several doctors confirmed a diagnosis—multicystic dysplastic kidney—while my daughter was in utero. At birth, she was paired with a urologist and nephrologist to create a plan of action. In her first few months of life, her clinical team watched as one kidney grew larger than the other. Eventually, the smaller, cystic kidney was no longer visible in an ultrasound.
With a family history of severe renal disease—including Alport syndrome—my daughter’s physicians referred us to a pediatric geneticist, who performed a kidney panel on my now two-year-old daughter. To be able to unlock more of her precise genetic information, my hope is that I can use these insights to make more fully informed healthcare decisions to protect my daughter’s future.
This real story from a fellow colleague of mine isn't an uncommon one. It illustrates the benefits of genetic testing: an opportunity to turn knowledge into action. With next-generation sequencing (NGS) technologies creating new ways to understand genomic samples faster and more affordably, NGS is transforming medicine. From enabling the diagnosis of genetic disorders to detecting novel disease variants, NGS is helping accelerate scientific and clinical applications and bridging the gap between genomic intelligence and our understanding of human health.
Through early detection and diagnosis of disease, people can now use NGS to assess individual risk of disease and inform disease-management strategies. This information can also help those beyond the individual—sharing insights with family members can help determine if others may be at risk and lead to improved medical care for many. NGS technologies also are increasingly important in cancer research, helping enable early detection and interception, building knowledge around tumor evolution and potential target therapies and opening the doors for patients to start benefiting from research breakthroughs.
Cancer Sequencing Technologies That Are Driving Precision Medicine
NGS has the potential to become a new standard of care in a clinical setting and represents the progress the industry is making to provide rapid, comprehensive insights to patients and providers. According to National Cancer Institute researchers, biomarker testing plays an important part in precision medicine and can help in selecting the right cancer treatment for specific genetic markers found in a certain type of cancer.
A widely used cancer sequencing method, whole-exome sequencing (WES), is an NGS application growing in popularity in cancer research because it provides the ability to gather and bank an entire exome for analysis and future reference. As it's widely accepted that about 85% of disease-causing variants are found within the exome, WES can help identify genetic mutations and provide insights on cancer biomarkers and other changes in a person’s genes—all of which are important for understanding cancer growth drivers.
WES is widening cancer researchers’ knowledge base and driving a new era of cancer investigation. It's also helping reveal our underlying biology and uncover new novel signatures, which further the potential of WES when it comes to assessing individual cancer risk or response to treatment.
RNA sequencing also is playing a growing role in cancer research. According to the central dogma of biology, DNA makes RNA, which makes protein. So, RNA is one step closer to where the action is occurring. By sequencing the RNA cells are producing, researchers can get a window into the transcriptional regulation determining which genes are switched on or off, to what degree and at what times. It's also possible to detect splice variants, fusions and other mutations that arise in the transcriptional process and aren't evident in genomic DNA. The role of these modifications give researchers more information to help understand the complexity of cancer and other diseases.
Methyl-seq, in which certain chemical modifications of the bases that make up genes are detected, is gaining in utility as the role of methylation in gene regulation is being understood. Many of these changes occur early in the onset of cancer and are prevalent across tumor types, making them suitable for early detection. And although most methyl-seq technologies haven't yet been able to differentiate between different forms of methylation, newer technologies have allowed researchers to begin to tease apart how different modifications can cause differences in the biology.
Growth In NGS Instruments
According to the results of a study by BCC Research, the global market for next-generation cancer diagnostics is projected to grow to $16.7 billion by 2025. A segment fueling this growth is the instrumentation business, which in recent years has seen an emergence of new NGS startups. It’s not surprising. Faced with demand for innovative technology that enables both short and large genomic reads, faster speeds and higher accuracy, the need for sequencing platforms will likely propel more industry growth.
For example, one startup recently announced a low-cost sequencing platform that delivers a $100 genome—hundreds less than the current cost to sequence today. As sequencing plays a pivotal role in cancer research, continued advancements that help enable scale, improve sequencing quality and drive down costs creates more potential to blow the field of cancer research open—in a good way.
Early Detection Remains Key
It’s a well-established fact: Prevention and early detection of cancer can save lives and cut treatment costs. When cancer is found at its earliest stage, there's a much greater potential to improve health outcomes for patients. Yet, for 2022, researchers from the American Cancer Society project 1.9 million new cancer cases and more than 600,000 new deaths in the U.S. alone.
Based on these statistics, it’s clear that we need solutions such as NGS for the war against cancer. The advances made yesterday are empowering more scientists and clinicians to sequence challenging samples they never thought they could. With continued acceleration and adoption, NGS could help us realize more breakthroughs in cancer research for generations to come.