Championing PGx and CGx Screening

How Independent labs can grow by selling advanced screening procedures and support the US Cancer Moonshot Initiative

Prior to the COVID-19 pandemic, cancer was the second leading cause of death in the United States. It’s a morbid statistic, but in 2020 alone, according to the Center for Disease Control and Prevention, 602,350 deaths were attributable to cancer, second only to heart disease.

While the good news here is that from 2001 to 2020, cancer mortality rates have dropped 27%, the fact is that this one group of diseases continue to plague the human race since the dawn of time. Archeological discoveries made in South Africa show evidence of cancer dating back as early as 1.7 million years ago, in an early ancestor of modern hominids.

In addition to the reignition of the Cancer Moonshot Initiative proposed by recent administrations to reduce cancer death rate by 50% in the next 25 years, there are some recent advances in science and laboratory testing that will give doctors and healthcare providers a leg-up on the continuing battle against cancer.  And as the front-line of modern precision medicine, laboratories now play a vital part, as early detection, pharmacogenomic testing, and cancer genomics screening become the first leg of the cancer moonshot.

Independent laboratories have an opportunity to become champions of advanced cancer screening. As screening and precision medicine become more prevalent in the strategy to combat cancer, the conditions are ripe for laboratories to be at the forefront of a rapidly growing industry.

New market conditions favor rapid growth of non-invasive, early detection tests

There’s a joke about how no-one ever looks forward to their colonoscopy. And, it’s true.  One of the biggest hurdles to early cancer detection, and therefore treatment and improving mortality rate, is the actual screening procedure itself.

In the last two decades, the majority of cancer screening involves laboratory imaging, whether it’s mammography, colonoscopy, or CT scans. The issue is the imaging process themselves can be invasive, time consuming, or just an inconvenience in a busy lifestyle. For example, 7 of 8 adults who met lung screening criteria did not report to recommended screening.

While CDC still recommends mammography for breast cancer screening, and pap test for cervical cancer, recent updates in other areas such as colorectal cancer screening now can be supplemented with FDA approved screening tests that can be taken at home. Simply put, the annual visits to a proctologist for men and women 50 or over doesn’t have to be so uncomfortable anymore.

The above point highlights new opportunities for independent laboratories. While certain tests still require radio imaging or CT scans, which traditionally have been done in person in laboratories, and others still require a provider or specialists such as OB/GYN, the removal of some of the screening inconveniences have dramatically increased detection rate, increased the quantity of laboratory or imaging test orders, and made access to tests much more widely available.

There are also exciting new diagnostic and testing processes that are currently in development from leading research institutions like MIT on other potential noninvasive tests that can lead to further improvement in diagnosis via nanoparticles. These new developments of cancer screening in the next decade will directly impact President Biden’s new Cancer Moonshot goals.

There’s more.

Sequencing genome is easier and cheaper, passing higher margins to laboratories

This is perhaps the biggest development in medicine and laboratory testing in the last 10 years. With faster supercomputers, leading edge genetic sequencing of an entire human genome can now be completed in 5 hours and 2 minutes, a record set by Stanford scientists. What used to take days just a few years ago, and originally has taken more than a decade to achieve, ala the Human Genome Project, and billions of dollars to complete, now can be done in hours for a small fraction in cost.

In fact, for the purposes of screening for specific types of cancer, the entire process can be focused on a small portion of the entire genetic sequencing and can be accomplished in mere minutes. Let’s talk about some of the gene-based testing available today for cancer screening:

Pharmacogenetic testing (PGx) market

According to Straits Research, the pharmacogenomics market is currently valued at $5.7 billion dollars, and is expected to grow at a CAGR of 8.47% this decade. The popularity of pharmacogenomics has surged significantly recently, as part of the development of modern medicine practices.

Pharmacogenetic testing, or sometimes referred to pharmacogenomics, can provide a predictive index for an individual’s response to specific medication. Specifically, genes CYPD6 and TMPT can be tested for effectiveness of treatment for breast cancer and childhood leukemia, respectively. Combined with precision medicine practices, a focused PGx panel or a comprehensive PGx panel can determine the effectiveness of certain treatment, provide the most precise dosage, and reduce risk of complications of administered medicine. Combined with proper, timely, and frequent screening, PGx testing can significantly improve patient care and outcome as part of the early diagnosis and treatment strategy.

PGx testing can usually be taken from a blood sample or saliva sample, depending on which genetic marker is being looked at. With saliva sample collection, a PGx panel test can be administered as a kit at the convenience and comfort of home, thus eliminating the cost associated with a sample drawn in person and increasing test adaptation by the patient.

Cancer genomics screening (CGx) market

Cancer genomics market is estimated to grow to be $72.61 billion in the next 10 years, with a CAGR of 16.3% according to Prophecy Market Insights. In 2021, the rapid development of NGS (next generation sequencing) technology has provided wider application, improvement in speed, and increase in demand for precision medicine.

Researchers and scientists have long associated a certain high frequency of specific type of cancer to specific genetic mutations. As more and more types of cancers and their risk factors are tied to specific genomes and their mutations, cancer genomics screening becomes the first line of defense for finding risk factors associated with each individual. For example, a cancer genomic test for mutations in the TP53, EGFR, and KRAS genes can indicate a higher risk for lung cancer. In addition to family history, cancer genomics testing can provide additional information about an individual’s risk factors.

It is important to prepare and inform the patient. Just because the markers exist for specific mutation does not mean they’ve got cancer, but at a higher risk than the general public. In combination with PGx testing, and frequent screening, the right course of action and treatment can be provided should the individual patient develop the disease to improve survival rate.

Modern precision medicine will driving up demand for cancer screening tests

Part of this equation is the role precision medicine will play in the future of cancer prevention. The basis of precision medicine is the data and information laboratory testing provides to physicians and care providers to help them craft individual care plans. Therefore, PGx and CGx will continue to play a vital role in how individualized, precision care is delivered in the arena of cancer care.

Most importantly, the role that laboratories play, especially for labs that specialize in genetic sequencing, in this new modern precision medicine model, will be the most important cog. It is vital that labs champion these new diagnostic tools and educate both providers and patients on the benefit and efficacy of new testing procedures. Working with a network of providers, providing educational resources to consumers, and raising awareness of new tests will be a part of the process that not only improves patient care, but also increases revenue and improves margins for clinical and genetic testing laboratories. By working together, independent laboratories can remove the following hurdles to adapting modern PGx and CGx tests as a major part of the cancer screening process:

Increased clinical utility and efficacy

The field of PGx and CGx are both relative newcomers to the clinical laboratory testing industry. Due to the recent adaptation of modern precision medicine practices, the lack of high quantities of randomized controlled trials means the adaptation isn’t as widely accepted as other tried and true testing and screening methods, such as radio imaging or CT scans. However, according to “Barriers to clinical adoption of pharmacogenomic testing in psychiatry: a critical analysis” as published in Translational Psychiatry, multiple meta-analyses show a very consistent benefit of 1.7 times improvement in remission when treatment is guided by PGx testing.

Improved cost-effectiveness

Part of the modern precision medicine model is to use the availability of testing data to adjust dosage and application accordingly for individuals. As part of the process, cost for prescription may decrease, or the effectiveness of the treatment may increase, as well as lowering remission rate. While the effectiveness of the treatment and lowering of remission is hard to quantify, cost of treatment can easily offset the cost of the PGx or CGx testing as part of the precision medicine model. A Canadian study using the Ontario Drug Benefits formulary shows a $1,061 CAN saving per member when a provider prescribes medication based on specific recommendations by a PGx result.

Better reimbursement policies

As government policies continue to evolve around PGx and CGx testing, payees have been holding with bated breath to see whether partial or full reimbursement of additional screening tests will be adopted by Centers for Medicare & Medicaid Services.

Government regulatory agencies have so far shown willingness to adapt and evolve with PGx and CGx testing, such as CMS approving testing of CYP2C9 or VKORC1 alleles to predict Warfarin responsiveness under a narrow guideline. As of December of 2021, CMS considers the following covered under LCD ID L39073:

Pharmacogenetics testing will be considered medically reasonable and necessary if:

1. The patient has a condition where clinical evaluation has determined the need for a medication that has a known gene-drug interaction(s) for which the test results would directly impact the drug management of the patient’s condition; AND
2. The test meets evidence standards for genetic testing as evaluated by a scientific, transparent, peer-reviewed process and determined to demonstrate actionability in clinical decision making by CPIC guideline level A or B1; or is listed in the FDA table of known gene-drug interactions where data support therapeutic recommendations or a potential impact on safety or response or the FDA label; https://www.fda.gov/drugs/science-and-research-drugs/table-pharmacogenomic-biomarkers-drug-labeling ; https://www.fda.gov/medical-devices/precision-medicine/table-pharmacogenetic-associations

As more and more cost-effective studies come online, additional screening tests may be accepted into CMS regulations.

Last hurdle: accelerating physician education

A recent study¹ surveyed 90 department chairs from a variety of medical schools in the US and Canada to assess the extent of PGx education in their respective institutions. A dedicated PGx course was available in only two medical schools. PGx and CGx testing is already widely available to the public, but still requires an order from physicians for payer reimbursement.

Laboratory leaders can help reduce this hurdle and begin to educate both the patient and the physician to help facilitate adoption, and partner with service providers that have experience and know-how to bring a new test to market will help.

Leverage partners like 1health to help promote new PGx and CGx products

1health is the leading software provider creating turnkey go-to-market solutions for independent laboratories deploying clinical and direct-to-consumer testing services. Within the 1health cloud-based platform, the entire patient journey is transparent and trackable for its lab partners –  everything from order entry, to tracking and logistics, to communications with providers and patients. Not only that, 1health offers services that ensure best practices in kitting and digital marketing to ensure each laboratory’s testing kits are found by the most relevant customers, extending independent lab’s capability to service a wider consumer base across a larger potential geographical area.

As an example, Gene by Gene successfully expanded into the Direct-to-Consumer market with 1health.

With 1health, genetic testing labs can rapidly launch PGx and CGx products and make them widely available to consumers, with turnkey, end-to-end solutions that include kit design, tracking and logistics, marketing, and HIPAA compliant portal for providers and patients. Any laboratory launching their own PGx or CGx products can have these capabilities on their own branded eCommerce site:

• Lab test products available online, packaged in Branded Kits
• Consumer-friendly ordering and physician approvals
• Insurance information collected and scanned
• Sample tracking
• Product description and pricing management
• Result notification, approvals, and payment processing
• DTC data sent to their backend systems

As part of the drive to fulfill the Cancer Moonshot, genetic testing laboratories can reduce the time and capital investment involved in bringing a kit to market from years down to weeks, just like how genome sequencing used to take years and decades, but now with modern processes and technology can now be done in hours for a lot lower cost. And as modern precision medicine drives the demand for better cancer screening tools, independent laboratories are positioned for tremendous revenue growth in the next decade with the right partnership.

Learn how 1health can help power your growth.