Reprinted with AIS Health permission from the January 2024 issue of Radar on Specialty Pharmacy
Tremendous strides have been made in personalized medicine over the past several years — not only in drugs but in the various biomarkers used to identify the right drug for the right patient at the right time. While many people may think of this approach as one mainly solely for cancer, the potential for personalized medicine to have a broader impact on health outcomes when it is used proactively has not fully been realized.
In September, InformedDNA — which provides genomic solutions to an array of health care stakeholders to improve outcomes — acquired gWell Health, a digital health, genomics and wellness company. As part of the deal, gWell founder and CEO Surya Singh, M.D., transitioned to CEO of InformedDNA. Singh has worked in various health care organizations over more than 20 years, including serving as corporate vice president and chief medical officer at CVS Health Specialty.
He recently spoke with AIS Health, a division of MMIT, about making genomic data more accessible and actionable across the health care industry.
Singh says that three factors are standing in the way of optimizing and accelerating preventive screenings and diagnoses. First, “the guidelines that are set out for prevention are just not updated quickly enough. The interval is too long between reviews of new data, new evidence of new data that’s generated, [and] unlike many other areas, it just takes several years to get those various bodies to review things.”
The second barrier is tied to the way screenings are currently done. “We’ve closed the gap with some of the work of integrating screening into quality metrics because by the very nature of them being quality metrics and being reported, you get some uptick.…Tying payment to them and value-based care models has worked as well” for screenings for certain cancers such as colon and breast, he says. “So we’ve made improvements, but it still leaves something to be desired. There’s a lot of room to move on that front.”
Finally, while a push for novel methods of screening and generating evidence exists, these do not appear in industry guidelines, Singh states. In addition, “we really have not done a great job of being able to use population health programs and targeting through population health programs to find those sectors that will benefit from more novel techniques earlier.”
But payer-sponsored population health programs can help with integrating “newer techniques with very good evidence behind them” in order to identify populations for better screening.
In addition, such programs can be helpful to reach “patients who either have been lost to follow-up after a referral is made for screening or never got referred in the first place, even though they’re plugged into the health care system.…I think the targeting and outreach to that population [that never received a referral] and for a program to be graded essentially to be evaluated on how successful are you at (a) contacting those patients and (b) bringing them in for screening is essential.”
He continues: “Just as a broad bucket of what needs to be done, I think that’s where the lowest hanging fruit is because those are things that are already well accepted, that are in this quality scorecard, to try and push the percentage of people [who] get those screenings up.”
Unfortunately, he notes, a “huge chunk” of people with a family history of cancer — about two-thirds — “don’t go on to get even considered for quote-unquote germline genetic testing,” says Singh. “Then in the roughly third of people at the top end who do get screened, we just don’t do a great job of being able to get the testing done for those patients in a streamlined fashion. So even if the clinician thinks to order it, there’s no guidance for that clinician decision support, so to speak.”
However, “we have made inroads on doing that” and having a “medical process in place for us to do a pretest when the order comes in” that determines what type of testing is most appropriate for that patient — a “kind of pretest genetic counseling,” he explains. He clarifies that this is not an effort to stop tests from being done but rather to get the right test or the right panel done.
Several states have biomarker mandates in place, and those will be important for the uptake of pharmacogenomic testing, he asserts. Also significant is the FDA’s table of pharmacogenomic biomarkers on drug labels, which included almost 600 agents as of August 2023.
Notion of Precision Health Has Evolved
The definition of precision health has undergone a transformation, Singh explains, starting with personalized medicine, specifically targeted therapies such as monoclonal antibodies, about 15 or 20 years ago. But now precision health is a broader umbrella term that encompasses “both the diagnostics and then the upstream screenings that really are going to result in this use of those targeted therapies and even cell and gene therapy downstream.”
But this has been an issue for health plans’ and PBMs’ approaches to precision health, he maintains, and the “paradigm for doing health technology assessment just did not lend itself well to looking at diagnostics, frankly, to start off with. The same similar processes have been used for imaging and for other things, but it’s most tried and true for therapeutics.”
There has been “such an overwhelming volume” of “new therapies being approved and needing assessment to try to figure out should this be covered and if so at what level” by plans and PBMs. This means that “we continue to have just limited capacity to be able to adapt the paradigm and manage care,…to do a more rigorous job and adapt it in a way that is the most appropriate for these types of screening and diagnostic approaches that we’re talking about here as part of the precision medicine to health expansion.”
That is changing, though, says Singh, driven in large part by self-insured employers, which tend to keep their members for longer and have been advocates for earlier diagnosis and screening.
However, misunderstandings around precision health persist, he states, with one of the main ones being that the field is focused on only individual therapies when it is much more than that.
In addition, “the companies that have really grown up in the diagnostic space, the molecular diagnostic space, the ones that are most well-known and most mature at this point have done some, but maybe not as much as I would like to see it, aggressively moving into the world of value-based contracting and value-based care.” Diagnostics manufacturers “have still been very transactional focused, if you will, where getting the most utilization of their particular product is priority No. 1, rather than trying to figure out how to make sure it gets used effectively to drive the most value in a very real way.”
‘Thoughtful Approach’ to Implementation Is Needed
So a “thoughtful approach” to improving the implementation of precision health, of diagnostics and screening, is needed, “and that’s workflow, that’s reimbursement, that’s coverage, all of those things,” he stresses.
Proactive screening of people who are at risk of complex and costly diseases should be done, and identifying those people can be accomplished in several ways:
- People who are on a drug with a validated genomic marker: “And the way that we’re thinking about it, you further can target and filter the population to say who’s on one of those drugs and has polypharmacy — is on five or more medications — because those are the people that are really at most risk of having something that’s detrimental to their health happen as a result.”
- People with a new cancer diagnosis for which National Comprehensive Cancer Network (NCCN) guidelines recommend germline testing: But a JAMA study published in July 2023 found that of 1.3 million people in California and Georgia with a cancer diagnosis between 2013 and 2019, only 6.8 % underwent germline testing. Cost should not be an issue, he says, as the price for this testing “has plummeted.”
- People with a family history of cancer but no tumor: They “should also be evaluated and should have likely some testing but certainly should have genetic counseling to help determine whether or not they should have testing at that time and be given the choice,” he recommends.
Genetically targeted screenings and treatments may be quite accessible for some populations but not really at all for others, and much of that is due to implementation science, he observes. “There’s not been an organized approach to how do you try to make this an easy and integrated-into-the-workflow option for providers? If providers were presented with an easy and integrated workflow option for essentially offloading this from their plate, they would make these types of assessments. They would access them on behalf of their patients through referrals very frequently, but there’s just not been a great easy way to do that.”
Companies such as InformedDNA, explains Singh, can help create a streamlined way for community providers to incorporate assessments, as well as help interpret the results.
Contact InformedDNA at info@informeddna.com.
By Angela Maas
