Biomarkers increasingly have become an invaluable tool in identifying, analyzing and developing treatment for various diseases. Outsourcing-Pharma discussed with Kevin Hrusovsky (KH)—president, chair and CEO of Quanterix—discussed the evolution of the technology and how it continues to revolutionize drug discovery and development.
OSP: Could you please share how use of biomarkers has evolved in recent years, including any landmarks/developments in 2020?
KH: Today, researchers across the healthcare spectrum depend on biomarkers to identify, study and inform treatment for a range of diseases, including Alzheimer’s disease, MS, cancer, HIV and many more. These applications grew exponentially with the advent of highly sensitive technologies that can measure biomarkers in blood, offering a less invasive alternative to cerebral spinal fluid (CSF) markers, which has long been the industry standard.
When COVID-19 struck this year, biomarkers played (and are still playing) an instrumental role in studying the virus’s innate and adaptive immunity, aiding in the prediction of severe cases and helping to inform treatment strategies.
For example, studies published earlier this year in Science and the Journal of Allergy and Clinical Immunology correlated biomarker changes in the blood of COVID-19 patients, specifically the reduction of interferon (IFN) type I, with increased risk of a severe inflammatory response to the virus. This suggests that a biomarker blood test to measure this marker could help detect high-risk patients early and inform their treatment path.
OSP: What therapy areas are biomarkers most frequently employed in?
KH: Biomarkers are used to study and monitor a vast array of diseases, from cancers to neurodegenerative conditions and infectious diseases. In recent years, there have been incredible advances in harnessing plasma markers to study some of the world’s most mysterious conditions.
For example, “invisible illnesses” such Alzheimer’s or MS can often be overlooked or mistaken for other forms of dementia. There are still no definitive tests for early detection of these conditions and doctors can only conclusively diagnose them once symptoms start to present.
Assays for tell-tale biomarkers like neurofilament light (Nf-L), tau and phosphorylation sites of human tau protein (pTau-181) proteins, are turning this on its head and allowing researchers to actually see signs of the AD up to 16 years before symptoms begin. In oncology, biomarkers are making it possible to identify early-stage cancers and discriminate between benign and malignant cells. Moreover, they are proving instrumental to assessing the efficacy of experimental immunotherapies and monitoring for recurrence in existing cancer patients, transforming the treatment experience and increasing remission rates.
OSP: How are biomarkers used in clinical research, and are we seeing use of biomarkers in individual care as well?
KH: Biomarkers, especially those that can be measured regularly via non-invasive blood testing, are providing clinical researchers with greater visibility into disease progression and the impact of experimental therapeutics. As detection technologies have become more sophisticated, researchers have been able to harness biomarkers for disease profiling, diagnostic, therapeutic and prognostic purposes.
We’ve witnessed remarkable achievements to this end in the field of MS research, where biomarkers are supporting multiple drug trials. Markers such as Nf-L are being employed with incredible utility by companies like Novartis and Roche to monitor and evaluate the efficacy of experimental treatments.
Further, numerous studies have come out in recent years validating serum Nf-L as a prognostic and treatment monitoring tool for MS that could have important clinical applications. These advances are laying the groundwork to ultimately bring plasma biomarker testing into the clinic to support routine care and help doctors make better informed care decisions.
Blood biomarkers are taking personalized and precision health to the next level, because they have the potential to enable doctors to study health, not just see and retroactively treat a disease. By testing for severe diseases as simply as we test for cholesterol today, patients will be able to take advantage of better health interventions sooner.
Moreover, doctors will be able to see and study disease on an even more personalized level. As an exciting example of this potential, a new study from Lund University and The University of Gothenburg in Sweden published in Nature Aging demonstrated how plasma biomarkers can be applied to developing personalized prediction models for cognitive decline and conversion of mild cognitive impairment (MCI) to Alzheimer’s disease.
At Quanterix, we’re proud to be supporting research like this and are looking ahead as opportunities remain to incorporate biomarkers, and particularly biomarker-based stratification, on a more personal level.
OSP: You have predicted we will likely see use of biomarkers increase in routine care. Can you please explain why you believe that might be on the horizon?
KH: Biomarkers, namely CSF and PET imaging, have been fixtures of care for a while. However, they remain invasive techniques that can also be costly to administer. The industry has long known that the answers were in our blood but lacked a way to see it with precision and sensitivity.
Technology has now advanced to the point where this is possible, with hundreds of peer-reviewed research papers validating plasma markers as comparable to CSF and PET measures. These innovations paired with a renewed focus on health brought on by the pandemic, has created a perfect storm for finally bringing blood-based biomarker testing into clinical settings.
As health policy stakeholders and regulators rethink many of their procedures and practices in the wake of this global catastrophe, we may find new strategies for safeguarding human health and wellness coming to the fore.
OSP: What are the benefits of increased reliance on biomarkers for the patient?
KH: Early detection of diseases through biomarkers afford patients the opportunity to make important changes to delay onset, mitigate the worst of the condition’s effects and possibly even stop it from progressing further. Additionally, by detecting a disease sooner, patients and their healthcare providers can intervene earlier - catching cancer and stage one versus stage four - and increase treatment options and likelihood of a positive outcome.
OSP: What are the benefits of increased reliance on biomarkers for pharma companies?
KH: Biomarkers are proving instrumental to drug development pipelines and clinical trial success. Through regular blood biomarker testing, pharmaceutical companies can more closely monitor a patient’s response to an experiment treatment, enabling them to better assess whether or not a drug is having the desired effect and exactly how much of a drug is needed to be effective. The latter is particularly important to avoid overdosing and toxicity, which is a leading cause of death in the United States.
This unprecedented level of insight is helping pharmaceutical companies gain greater visibility into their drug’s impact and move treatments through clinical trials with greater success. In fact, it’s been shown that the probability of a drug approval increases by 300% if biomarkers are used.
OSP: What are the benefits of increased reliance on biomarkers for caregivers?
KH: Regardless of the health concern, knowledge is power. The earlier one knows about a condition and the more closely it can be monitored, the better prepared patients and their caregivers can be for whatever may come down the road.
Biomarkers are empowering this level of knowledge to help inform care strategies and offer peace of mind to patients as well as the family and friends invested in their care and quality of life.
OSP: Could you please share what you think some of the barriers to increased use of biomarkers might be?
KH: Broadly, the healthcare system’s continued emphasis on reactive sick care versus truly preventative precision health has hindered progress in putting new, innovative solutions and care tools into the hands of doctors. Insurance coverage remains another barrier, limiting the pool of people who can take advantage of the latest care techniques. This extends to many forms of biomarker testing, including liquid biopsies, which are growing in popularity for their potential to detect many forms of cancer early through a simple blood test.
According to a 2020 study conducted by LUNGevity Foundation and American Cancer Society Cancer Action Network, which evaluated health insurance coverage and patient access to biomarker testing for different types of cancer, biomarkers are sorely underinsured. These limitations, as the study explains, lead to disparities in treatment that preclude those with the greatest need from receiving the best possible care.
OSP: What plans/goals does your company have for the coming year?
KH: In the coming year, we will continue to advance applications for our technology across our core therapeutic categories, with a continued emphasis on infectious disease and neurology. Over the last several months, we’ve focused on accelerating our COVID-19 testing solutions; notably, we’ll continue to prioritize the development, scale-up and deployment of our novel SARS-CoV-2 antigen test with the funding we received from the National Institutes of Health through its Rapid Acceleration of Diagnostics initiative.
Additionally, we will continue to support ongoing research into adaptive immunity to COVID-19 through our research use only (RUO) antibody testing solutions, which are being actively used by organizations worldwide, such as Brigham and Women’s Hospital.
Finally, while COVID-19 presented many unexpected circumstances, we recognize that other diseases did not go away. We launched several important neurology assays, including pTau-181 which is proving instrumental to Alzheimer’s detection, and are committed to supporting all of our core therapeutic categories in the year ahead.