BOSTON – Early data on the impact of two insurance benefits programs that offer genetic testing to covered members suggests that such efforts could be a viable strategy to engage people in their care and deliver it in a more personalized fashion.
Despite the step-up by the US Food and Drug Administration in regulatory action on pharmacogenetic testing, the success of these programs, which incorporate PGx, as well as other types of genetic health risk tests, suggests that interest in such tests is growing and access isn't being stifled as some had feared.
At the annual Personalized Medicine Conference in Boston this week, Karen Knudsen, a professor of cancer biology, urology and radiation oncology at Thomas Jefferson University, discussed a program to provide genetic testing through Color to all 33,000 of its employees at the academic healthcare system (Jefferson Health) as a wellness benefit. Jane Gilbert, director of retiree healthcare for the Teachers' Retirement System for Kentucky, talked about her group's decision to offer 36,000 Medicare eligible retirees the chance to get PGx testing administered by Coriell Life Sciences.
At the meeting, experts leading these efforts discussed what they had learned so far after implementing these programs a year ago and how they were using the lessons to improve care for the population they served. "There is an engagement tool here for cancer care and medication use, and we see that genetics is something people are very interested in," said Jay Wohlgemuth, chief medical officer at Quest Diagnostics, who moderated the panel discussion at the meeting. "It provides value, but then [the employer] can take it beyond that and steer them to care in the right way."
For example, the employees of Jefferson Health, a large academic healthcare system that operates a cancer center and 16 hospitals in New Jersey and Pennsylvania, had the chance to get the full suite of products from Color during last year's benefits enrollment period, including genetic risk testing for cancer and cardiovascular diseases, and pharmacogenetics. Knudsen, who is also the executive VP of oncology services & enterprise director at Jefferson Health's Sidney Kimmel Cancer Center, was particularly interested in improving employees' access to cancer genetic risk testing.
The popularity of consumer genetics services was having an unfortunate impact, she recalled. Patients were coming to the cancer risk clinic after taking limited tests through direct-to-consumer genetic testing companies with the belief that they were in the clear because the test was negative. This type of misunderstanding is not uncommon among customers of DTC genetic testing companies and has prompted Color and other labs to launch confirmatory testing services.
"This was something that was happening in people's day-to-day life and we felt it incumbent upon us as a forward-thinking health system to make this something that all employees could have access to," Knudsen said.
It was uncertain at first how much interest there would be among Jefferson Health employees in getting tested. Initially, Knudsen and other administrators considered introducing the program to only around 2,000 employees, but in the end they decided to offer it to all its employees.
To date, around a third of Jefferson Health employees have gotten tested through the program. Employees can receive testing privately through Color, and can discuss the results with a healthcare provider at Jefferson Health or with one of Color's genetic counselors, who in turn can guide them to additional cancer screening if necessary.
Jefferson Health recently harmonized cancer screening guidelines across its health system for average and high-risk patients, Knudsen said. This benefits program is not only helping increase access to genetic testing and direct patients to appropriate screening based on those guidelines, she said, but it is also a safe outlet for receiving and understanding "that genetic information that we knew our employees were hungry for."
The program educates patients on what is protected information under the Genetic Information Non-Discrimination Act, and where the gaps are. If, out of concern for their privacy, employees don't want their genetic information to end up in their medical record, for example, they can choose to only speak to a Color genetic counselor. If they speak to a Jefferson Health counselor, that information may end up in their records.
Out of respect for employees' privacy and provide extra assurance that Jefferson Health cannot use their genetic information for any purpose, the health system decided to not even receive aggregate genetic data on participants from Color. "We decided that even in aggregate we will not learn the genetic information of [our] employee pool," Knudsen said, adding that there is no benefit to Jefferson Health learning whether the BRCA mutation rate is higher among its employees than in the general population. "The benefit is for the employees to learn about their risk in their own way ... and help get them to the appropriate screening program."
While Jefferson Health isn't interested in its employees' genetic data, the employer is tracking testing patterns within the program and wants to learn more about what is driving their interest in testing. "That one-third uptake is staggering to all of us," Knudsen said.
In launching the program, she had anticipated, for example, that employees would have a lot of concern about their privacy. But, in fact, employees' number one question has been: Can my spouse take the test, too? After some employees' learn their risks for cancer, it prompts further cascade testing for other family members, showing this type of benefits program is "not just for the employee," Knudsen said. "They want it for their family, too."
A surprising finding within the program, was that although more than 50 percent of Jefferson Health's employee base is female, more than 80 percent of those who took the test were women. Knudsen highlighted that a point of pride for Jefferson Health is that it launched the first genetic risk clinic for prostate cancer in the country, so the fact that so few men got tested struck a chord. "We're trying to understand it," she said.
At the meeting, Gilbert from the Teachers' Retirement System, discussed the experience of implementing pharmacogenetic testing benefits for a population of retired teachers in Kentucky who are older, on a limited budget, and on multiple drugs. The Teachers' Retirement System, which provides a pension, health insurance, and other benefits to its members, has 36,000 Medicare-eligible retirees, of whom 6,700 are over 80 years old, and around 40 are more than 100 years old. The covered population takes, on average, 15 prescription drugs. The average pension retired teachers receive is $36,000 per year with no eligibility for Social Security.
"We had some financially compelling reasons to contain costs within the state of Kentucky with regards to our health plan," Gilbert said, explaining that the health plan administered by the Teachers' Retirement System is not a guaranteed benefit for retirees. "When the money runs out, the money runs out. We have to be good stewards, with a limited trust fund."
Because of these budgetary constraints, it became even more important to lower unnecessary spending on drug utilization. In engaging with Coriell Life Sciences to launch the PGx testing program, the goal was to determine if someone really needed to be on 15 medications, Gilbert said.
To date, 8,000 retired teachers have decided to get tested. Coriell Life Sciences, which was spun out of the Coriell Institute for Medical Research in 2013, conducts the testing. The firm also trained a team of pharmacists in Kentucky on how to communicate the results to patients and doctors, and provides a clinical decision support tool called GeneDose Live for reviewing medication risks and suggesting alternatives. The trained pharmacists at the Know Your Rx Coalition reviews the PGx test results one-on-one with each patient, and communicates the medication action plan provided within GeneDose Live to the patient's doctor.
Coriell Life Sciences monitors the results from the program and tracks the outcomes through claims data analysis. So far, out of the 8,000 tested through this program, 64 percent had a medication change, of which 28 percent have been directly due to patients' genetic variation. After engaging with the pharmacists, patients' doctors accept the recommended change in treatment 94 percent of the time.
"If you have a pharmacy service that has taken the time to review your patient in detail and produced a report that says this is the wrong drug and this is the right drug, most doctors … are seeing this as a value added to their practice," Coriell Life Sciences CEO Scott Megill said.
Experts at the meeting also highlighted that 72 percent of cases where medications needed to be changed were due to non-genetic factors. However, this doesn't decrease the value of genetic testing, Megill noted, but illustrates the importance of factoring in genetic and non-genetic information when evaluating a medication plan. "There is a subset [of medication changes] that are driven by genetics," Megill said. "But pharmacogenomics is not a silver bullet … You have to look at the comprehensive nature of medications."
In recent years, a number of large employers have decided to add genetic testing as a wellness benefit, and this has been one of Color's main growth strategies. "There is no doubt that there has been a sharp spike in interest for [our] service," Megill said, highlighting Coriell Life Sciences has launched similar programs at self-insured companies, integrated healthcare systems, public sector entities, as well as programs in Scotland and Saudi Arabia.
Quest's Wohlgemuth, who also oversees the company's employee health plan that includes 60,000 members, indicated the large reference lab is also interested in implementing a genetic benefits program for its employees. "We pay for the healthcare of this population, and they're with us for 10 years on average," he said. "There's a lot that can be done in a health plan like that to improve care and lower costs."
While the efforts discussed at the meeting provided genetic testing benefits to all covered members, employers can also decide to implement these types of programs just in the segment of the population where it can have the biggest cost and outcomes impact. For example, in a separate session, Lincoln Nadauld from Intermountain Healthcare, which serves Utah and Idaho and operates the SelectHealth insurance division, said it would start offering PGx testing as a covered benefit to a subset of its employees in 2020 for patients with depression, who have failed multiple treatments.
These benefits programs, particularly given their embrace of PGx testing, contrast with the FDA's recent statements on the lack of evidence supporting these tests. The agency issued a safety alert in this regard, and then sent a warning letter to Inova Health's genetic testing lab for offering PGx testing without FDA clearance or approval. Over the summer, the agency also began contacting labs offering PGx testing without regulatory approval and have asked some to stop mentioning drugs associated with reported genetic variants in test reports –– actions which have caused confusion in the field.
Industry players have criticized the agency for its inconsistency, lack of transparency, and accused the agency, once again, of overstepping its authority by moving to regulate laboratory-developed tests (LDT). Others have pointed out that the agency had promised to work with stakeholders to advance a new regulatory framework for diagnostics through legislation.
That promise was made by former FDA Commissioner Scott Gottlieb, now a resident fellow at the American Enterprise Institute. Gottlieb also spoke at this meeting and doubled down that the FDA's decision to step up regulations on PGx testing was the right one. "We agreed that we weren't going to try to assert oversight over LDTs, except in places where we had really clear public health concerns," he said. "This was a case where we had clear public health concerns."
Gottlieb noted that FDA's actions were driven "by a view, among other things, that there was variable quality in terms of the pharmacogenomic tests that were being promulgated." But then he backed off that assertion a bit, adding that "there might have been variable quality. I won't make an assertion that there was."
"People were making important clinical decisions on dosing drugs on the basis of tests that weren't subject to a consistent standard of clinical validity," he went on. "So, there was a public health concern here that was raised by some of the drug officials."
Gottlieb's insistence that there are public health concerns with PGx testing, without actually providing concrete examples of the patient harm that allegedly resulted from low quality tests, did not go unheeded by some lab industry players in the audience. Developers of LDTs have consistently criticized the agency for failing to provide evidence that unapproved lab tests are harming patients. Other stakeholders have urged FDA to be forthcoming and transparent if such evidence of public harm indeed exists.
While there is a lot of regulatory uncertainty around PGx testing at the moment, the success of employer programs highlighted at the meeting suggests that the FDA's actions haven't yet had the chilling effect some had feared. "A great deal of the value [in PGx testing] has to do with mental health prescription drug use," Wohlgemuth said, and suggested that based on the experience of programs like these, his company is also looking into incorporating genetics into employee wellness benefits some time next year.