Precision medicine is considered by many to be the future of global health—but for others, the future is already here. From genomic sequencing to molecular pathology and beyond, precision medicine innovation is already in play, and its use is increasing.
To learn more about the recent developments in precision medicine, advancements making the progress possible, and how PM benefits various stakeholders, Outsourcing-Pharma checked in with Robert Groebel, vice president of global life sciences strategy with Definitive Healthcare.
OSP: Could you please share your perspective on how interest in and pursuit of precision medicine solutions has evolved in recent years?
RG: Trends within precision medicine suggest that healthcare provider preferences for more effective, convenient, and cutting-edge care are driving rising rates of precision medicine interventions. Continued innovation in healthcare – which has been increasingly driven by novel pipelines – has significantly contributed to this shift.
Clinicians’ diagnostic capabilities first skyrocketed in 2003 when scientists from around the world mapped the entirety of the human genome. This discovery and further genomic research spurred massive advancements in pharmacogenetics, the science of developing pharmaceuticals around specific genetic markers and enabled a previously unimaginable level of precision in genetic diagnostics.
Precision medicine also benefits from the availability of real-world biomedical and social data, acquired from electronic health records, claims activities, disease registries, wearables, at-home sensors, and mobile devices, as well as new analytical technology to make sense of the data. This type of all-encompassing healthcare data is unprecedented and has only become available in the past few years.
OSP: What have been some of the key benefits of precision medicine, as understood by the medical industry as well as the public?
RG: Precision medicine offers value for both the diagnosis of existing disease and determining one’s risk of future disease. It can also be used to:
- Identify a potential tumor
- Understand or reduce risks for would-be patients
- Identify biomarkers that can predict treatment response or how the disease might progress
- Reduce the need for more intensive, and ongoing care.
Precision medicine’s ability to proactively identify potential health risks and guide treatment development around an individual’s unique genetic and social factors provides cost savings, improved outcomes for patients, a better patient experience, and healthier populations overall.
OSP: Specifically, please share an overview of the areas in which precision medicine has made strides, and where you think there may yet be untapped potential.
RG: We’re seeing all kinds of exciting growth within molecular pathology, genomic sequencing, and multianalyte assays. In particular, we’re seeing huge advances and increasing access to precision medicine procedures focused on helping people make more informed decisions about parenthood, especially for mothers waiting to have children after the age of 35.
Gene analysis helps parents-to-be determine the chances that their child will inherit certain diseases and disorders, like cystic fibrosis, venous thrombosis, or blood cancers.
While birth rates fell 3.7% on average in the first year of the pandemic, noninvasive prenatal testing volumes rose 27.7% in the same period (14,400 - 18,402 procedures). The most common molecular pathology diagnosis code in 2021 was an “encounter of female for testing for genetic disease carrier status for procreative management,” used by 33,593 patients.
Precision medicine still faces economic hurdles in supporting patients with the rarest diseases. Life science developers are generally incentivized to develop treatments for larger markets – although the Orphan Drug Act of 1983 and Rare Disease Act of 2002 aim to fund manufacturers, reduce R&D costs and ease testing protocols. But developers also face the unavoidable challenge of finding eligible clinical trial candidates among such small patient pools.
We’ll continue to see innovation in the rare disease space. Patients have historically been underserved, and there’s been a real commitment by pharma and other companies that have made investments to provide care for these very few patients.
OSP: Please tell us about Definitive Healthcare’s recent report on PM, and why you decided to tackle this dynamic topic.
RG: At Definitive Healthcare, our passion is to transform data, analytics, and expertise into healthcare commercial intelligence. We’ve been following the growth of precision medicine for some time and wanted to revisit its growth by evaluating data from all settings of care, including hospitals, surgery centers, long-term care, and office visits.
The providers and developers who use this intelligence could find themselves ahead of the next market-defining trend. But they’ll still need to keep a close eye on technological markets outside of healthcare, where consumers’ purchasing trends continue to provide a barometer for their expectations toward care.
OSP: Could you please share what the report has to say about molecular pathology?
RG: Molecular pathology is one of the most prominent disciplines related to precision medicine. Centered on the study and diagnosis of disease using individual molecules or genes found within the human body, molecular pathology procedures are usually performed to evaluate a patient’s genetic risk factor for a specific disease. They can also be used to diagnose certain cancers and identify the mutation profile of tumors, allowing for patient-specific treatments.
Claims data show that 562,157 molecular pathology procedures were performed in 2019. This figure dropped to 474,327 procedures in 2020 (a 15.6% decrease), as COVID-19-related lockdowns and restrictions on elective procedures led to reductions in procedures across most disciplines.
But molecular pathology saw a rise in 2021, with 497,410 procedures performed (a 4.8% increase from 2020 levels). With a total of 1,533,894 procedures performed during the three-year period (representing over 78% of all precision medicine procedures in that period), molecular pathology is the biggest precision medicine subcategory by volume. This isn’t surprising, considering the sheer variety of conditions and diseases that these procedures are capable of diagnosing.
OSP: What about genomic sequencing?
RG: These procedures are ideal for diagnosing and managing inherited diseases that may be associated with any one of a multitude of genes, or for multiple conditions with overlapping symptoms. The broader view of these tests enables rapid analysis of multiple genomic regions with a single sample, making them considerably faster and more efficient than many single-marker tests. Doctors and patients seem to be responding to that efficiency (and subsequent cost-savings) as these procedures are seeing major growth in volume.
Claims data show that 76,061 genomic sequencing procedures were performed in 2019. As with molecular pathology procedures, this figure dropped in 2020 to 72,788 (a 4.3% decrease). But unlike the previous procedure subcategory, genomic sequencing didn’t just recover in 2021 – procedure volumes skyrocketed to a total of 89,946 (a 23.5% increase from 2019), suggesting that a considerable number of single-target molecular pathology procedures are now being replaced by more efficient multi-gene sequencing procedures that address the same conditions.
OSP: Then, please share some detail about multianalyte assays with algorithmic analyses (MAAAs).
RG: The third and final subcategory of precision medicine procedures is also showing some of the most exciting growth in the industry due to rapidly rising procedure volumes and cutting-edge technological development. Multianalyte assays with algorithmic analyses (MAAAs) combine results from two or more biochemical or molecular tests, then factor in a patient’s demographic and clinical information to produce highly detailed, complex datasets. This data is then fed into an algorithm that can generate diagnostic, prognostic, or predictive information about a disease or condition-specific to a single patient.
MAAAs offer far greater clinical sensitivity and specificity than single-biomarker tests, especially for the detection and treatment of ovarian and prostate cancers. In recent years, the capabilities of these tests have expanded to cover a wide variety of organ conditions, cancers, sepsis, and more.
Claims data reflect the massive expansion in capabilities that MAAAs have undergone in recent years. With 44,818 procedures recorded in 2019, MAAAs experienced the typical dip in 2020 volume that we’ve seen among other precision medicine subcategories: a 22.6% decrease to 34,685. But 2021 more than made up for that loss in volume: 101,633 MAAA procedures were performed that year, demonstrating the greatest volume increase during the examined period across all subcategories (a 126.7% increase from 2019 to 2021). MAAAs have been a standard part of gynecological and obstetric care for over 30 years, and many of the highest-volume procedures within this category reflect that specialization.
OSP: What’s next—could you please share what the landscape might look like in the coming years?
LG: Life science developers should embrace opportunities in precision medicine. If not in the development of new tests and procedures, biopharma and medical device companies should at least understand the value of the data that precision medicine produces.
Whether in finding ideal candidates for clinical trials, identifying high-value molecules for future treatments, or simply understanding the demographics of potential patient bases, a healthcare market with more precision medicine means the output of more data that can be leveraged throughout R&D and commercialization.
OSP: Do you have anything to add?
RG: It’s been a tough few years for anyone trying to make sense of the healthcare market and its shifting trends. The ongoing pandemic has shaken up long-term patterns and added new layers of complexity to an already complicated ecosystem.
One trend has carried through all this chaos, however: Patients are taking greater control over their care and their lives, and precision medicine is offering solutions. Improved technology makes it simpler and less expensive to screen for multiple disease markers at once, saving patients time, money, and worry over factors that may have otherwise been missed. Parents now have greater insight than ever into the health risks they may be passing on to their children, as well as into the health of their developing fetus in real time. Plus, some of humanity’s most concerning diseases are a little less terrifying, as screening methods become cheaper and more accurate.