NEW YORK (GenomeWeb) – Although the number of marketed personalized medicine products is steadily growing, regulatory, reimbursement, and technological hurdles continue to temper the potential of the field to broadly impact care, according to a report issued this week by the Personalized Medicine Coalition.
"The Case for Personalized Medicine," is the PMC's periodic report on the life sciences sector it represents. PMC issued the last iteration of the report in 2011. Since then, according to the PMC's assessment, the field of personalized medicine has been growing gradually with a 57 percent increase in the number of marketed products over three years.
Currently, there are 113 "prominent examples of personalized drugs" available to patients, the coalition reports. Comparatively, there were 72 personalized products in 2011 and only 13 products in 2006.
Meanwhile, 137 US Food and Drug Administration-approved drugs now have pharmacogenomic information in their labeling, and 155 pharmacogenomic biomarkers have found their way into FDA-approved drug labels. According to PMC's 2011 report, there were only 33 pharmacogenomic biomarkers included on FDA-approved drug labels.
Other numbers in the PMC report highlight that the cost of sequencing a human genome dropped from $3 billion in 2001 to under $1,000 in 2014. The cost of sequencing a human genome was around $5,000 in 2011, when PMC last reported on the field.
Illumina earlier this year launched the HiSeq X Ten Sequencing System, a set of 10 sequencers with which the firm claims it can produce 18,000 human genomes per year for less than $1,000 per genome. The below-$1,000 price point is widely believed to be the tipping point for advancing personalized medicine.
Unfortunately, while human genome sequences can be cheaply and quickly churned out, the information contained in these sequences hasn't become useful to patient care at the same pace. Despite the momentum behind precision medicine research and development, there are still plenty of barriers to the development and adoption of such strategies in mainstream care.
"Personalized medicine has momentum and it's growing," Amy Miller, executive VP of public policy at PMC, told PGx Reporter. "However, the barriers are also growing in number and complexity and the pace of regulation/reimbursement changes haven't kept up with the science and technological advancements."
For example, the report highlights how genetic testing to thwart adverse drug reactions is one area where personalized strategies have not become standard of care. There are now multiple test panels that gauge CYP450 markers associated drug toxicities, and the FDA has updated labels of a number of drugs (i.e. warfarin) recommending doctors perform genetic testing to avoid adverse events.
"The life sciences community strives to improve the safety and efficacy of its products, but much more work remains," the report states. "Progress in developing and adopting diagnostics to identify which medicines work best for which patients, thus reducing adverse events, has been slow."
Limited uptake of genetic testing in this regard seems puzzling when viewed against stark numbers that show the healthcare system continuing to do a poor job of reducing drug-related adverse events in patients. Adverse drug reactions are implicated in approximately 5.3 percent of all hospital admissions. Moreover, between 2000 and 2011, drug-related adverse events detected by the FDA nearly tripled.
Many doctors and payors who don't use genetic testing to avoid drug-linked adverse events in their patients would argue that the tests lack clinical utility evidence backing the use and reimbursement. Clinical utility data takes time and money to generate, but it's coming in the context of genetic tests, slowly.
The PMC cites data in its report from older studies showing that 17,000 strokes could be prevented annually if doctors tested patients for specific gene mutations before giving them the anticoagulant warfarin and that more than $600 million could be saved if metastatic colorectal cancer patients received a test to determine if they would likely respond to certain monocolonal antibodies.
The PMC also lays out how uncertainties on the regulatory and reimbursement fronts continue to be major hindrances to the field. On the regulatory front, the FDA has yet to issue its oversight framework on lab-developed tests, finalize the draft guidance on companion diagnostics, or issue guidelines on drug/diagnostic co-development strategies.
In terms of reimbursement, the PMC noted in the report that "recent changes to payment and reimbursement policies for diagnostic tests demonstrate how poorly conceived policies can have a negative impact on personalized care." In recent years, changes to CPT coding and reimbursement methodology, as well as across-the-board payment cuts for molecular tests, have caused much consternation among labs and test developers.
Earlier this year, the US Congress passed the Protecting Access to Medicare Act of 2014, which repealed the Centers for Medicare & Medicaid's plan to review lab test technology and adjust payment starting next year. Under the new law, CMS must establish market-based pricing for lab tests starting in 2017, and update pricing annually for a new category of advanced diagnostic lab tests and every three years for all other tests. Industry players largely view this reimbursement overhaul as a more favorable alternative to the across-the-board payment cuts they were experiencing. However, stakeholders still have plenty of concerns about how the market-based pricing will be established and the types of data they'll have to submit.
Acknowledging that payors are under great pressure to control the cost of care, PMC advocates in the report for greater use of alternate payment models (APMs) and accountable care organizations (ACOs) to fuel implementation of personalized medicine products and strategies that reduce the cost of care and improve patients outcomes. "If implemented appropriately, APMs, such as medical homes, ACOs, and pathway- or episode-based payments, improve health care by encouraging the adoption of personalized medicine, but only if they are designed in ways that support continued advancements in and adoption of personalized medicine products and services," the coalition states in the report.
In the end, even if the implementation challenges are tempering advancements in personalized medicine, stakeholders may be encouraged by the fact that the buzz around personalized medicine hasn't abated. If membership in an organization focused on advancing personalized medicine is any sign in this regard, the PMC reports that its roster increased from 20 members in 2004, to 200 in 2011, to 230 in 2014.