INTEGRATING CONSUMER GENOMICS INTO THE HEALTH SYSTEM
Hunt Willard, the director of Geisinger National Precision Health and the session’s moderator said that this had been one of the first meetings in which he had seen recognition of the fact that the health care ecosystem has changed substantially to the point that it is now organized around health systems rather than individual provider practices. Gone are the days in which a single doctor would take care of a patient and all of that person’s health care went through either a local primary care physician or a local hospital, Willard continued. There are individual hospitals, but now consumers are more likely not entering the health care ecosystem through a clinical provider or a clinic. That relationship between people and their providers has changed, he said; many people may not know who their health system is, but they know the clinic they go to and their usual provider, even if that provider actually may change every time they go to that clinic. A health system point of reference may be important only if someone has a reason to visit a hospital for a medical event.
Many people may only engage with the health ecosystem when they want or need it. They may even pick and choose how to interact with certain parts of the ecosystem, Willard said. That may be the future of how people use the health care system and ecosystem.
Reflections on Consumer Genomics in the Health System
The workshop’s final session was a panel discussion in which the panelists were asked to reflect on what they had heard during the day’s previous sessions. In particular, the panelists were asked to explore what the role of consumer genomics might be in the health care system over the
next 5 to 10 years and whether health systems, consumers, and providers are prepared for the downstream challenges that will arise as consumer genomics finds more effective uses in clinical care. The panelists who participated in this part of the day were Danielle Bonadies, Shawneequa Callier, Siobhan Dolan, Robert Nussbaum, Dorothy Pomerantz, and Timothy Stenzel, the director of the Office of In Vitro Diagnostics and Radiological Health in the Office of Product Evaluation and Quality at the Food and Drug Administration’s (FDA’s) Center for Devices and Radiological Health.
Stenzel noted that in the case of consumer genetics and genomics, before granting approval for a specific test or system, FDA examines its analytical and clinical validity, whether it is safe and effective, and its benefits and risks.1 For example, in the case of a direct-to-consumer (DTC) genomic test the agency was aware that a physician may not be involved in receiving and interpreting the results of the test, so it was important for FDA to see the results of usability studies before it granted approval. Stenzel, speaking about what he found to be the most important messages of the day, cited the importance of getting more consumer and patient input into this field as it moves forward. In particular, he said that he had heard during the workshop that in many ways the system works as it should—it is safe—and that there may be ways to enhance the system so that when consumers receive a concerning test result, they will have more support to deal with that result.
Nussbaum said his major takeaway from the day was that the system is not at equilibrium because of contradictions that were exposed during the day:
- People have a greater thirst for genetic information than is being satisfied by the traditional medical system;
- There are logistical barriers to people being able to acquire that information;
- If consumers ignore the medical establishment by ordering a test directly from a DTC service and they have a strongly positive test of some sort, they want the medical establishment involved again. There is not enough person power in the medical system to be able to provide that type of support; and
- People want an inexpensive test, but at the same time someone has to pay the genetic counselor for the time and effort spent caring for a patient when there is a strongly positive result.
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1 Lists of DTC tests with marketing authorization: https://www.fda.gov/medical-devices/vitrodiagnostics/direct-consumer-tests#list (accessed December 10, 2019).
These challenges are complex, Nussbaum said. “The solution to this problem is going to require a multifactorial approach that attacks many of those inconsistencies and contradictions,” he added.
Dolan said that she was struck by the issues of access and navigation, how they vary by health care system, and how they affect a person’s sense of empowerment. For example, when she sees a patient who has a mutation associated with an increased risk of cancer, she tells the patient that part of the experience is for her to help change the patient’s view of the information from feeling that it is something troubling to something that is empowering. “I have always had the sense,” she said, “that it is critically important to find a way to assist the patient to make that transition and use this genetic information to be empowering.” Dolan also highlighted the transparency issues related to the cost of testing and follow-up care. Consumer genomics is more straightforward in terms of the payment for the service that the consumer receives than is clinical care delivery, which can be less transparent. But if a way is not found to engage diverse populations and provide less expensive testing options, she said, the result could be an increase in disparities.
Callier said an issue she was grappling with after the day’s discussions was where the line is drawn between the medical system and the consumer environment regarding regulations and data protections, particularly for data access by law enforcement. She voiced concern that law enforcement’s use of genetic databases could discourage individuals from underrepresented populations from participating in genomics research.
Bonadies said that the field is not fulfilling its obligation in terms of identifying those who may be at increased risk of certain genetic conditions. The Centers for Disease Control and Prevention (CDC) has identified three genomic conditions it considers important for health care providers to identify and diagnose in individuals—hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia.2 Despite this, only 30 percent of women diagnosed with ovarian cancer have been tested for associated mutations, she said. It is her hope that DTC genomic testing can narrow that gap and help build bridges to the medical system, but that will require tools that consumers can use to determine which test might be best for them, given their family histories and other factors.
One way to address this, Bonadies added, could be for DTC genomic services to provide more directive resources to consumers that would help them determine the next steps they might take, given their family histories
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2 For more information about the CDC Tier 1 genomic applications, see https://www.cdc.gov/genomics/implementation/toolkit/tier1.htm (accessed January 28, 2020). Note: Murray et al. (2018) have suggested that these Tier 1 conditions could be implemented in a genomics-based screening program.
and the results of their tests. This kind of tool would put more responsibility in the hands of DTC services and not add a burden to primary care physicians or disrupt their workflow, Willard said, adding that any plan that would add such burdens to physicians would be a nonstarter. Bonadies also said that the University of California, San Francisco, now has a clinic dedicated to working with people who have had DTC genomics tests and getting those individuals connected into primary care as well as providing confirmatory tests.
Dolan suggested creating more possibilities for pretest counseling as a means of both forming relationships with potential patients and also directing them to the appropriate tests and away from tests that would have no value. For example, at one point her clinic was seeing women of Puerto Rican and Dominican ancestry who were coming in with results of an Ashkenazi Jewish BRCA carrier screening panel, which was completely inappropriate. In her view, she said, there is a tension between the development of bigger and better panels of markers and customizing tests for specific individuals; offering pretest counseling, or at least a checklist for consumers, is the way to resolve that tension, she said. Nussbaum suggested thinking about pretest counseling as a form of triage.
Ferber predicted that DTC testing and physician-ordered testing are going to merge as the technologies continue to evolve. That may be, Michelle Penny said, but providing results to the individual in a fit-for-purpose manner and interpreting those results will still be a limiting factor in how valuable these tests will be, whether the consumer is using them to explore ancestry or to explore possible health issues. Asking physicians to add these interpretations to their workflows means that something else will need to be given up so as to not overburden them, she said. Penny then asked the panelists for their ideas about making more use of patient advocacy groups and registries, as The Michael J. Fox Foundation for Parkinson’s Research is doing, to connect DTC services and health care. Dolan strongly supported that idea, saying that there is a wealth of expertise within those communities that could be tapped.
Advancing the Research
Geoffrey Ginsburg asked the panelists for their ideas on the most compelling research questions that the National Human Genome Research Institute (NHGRI) should consider funding to advance the field. Nussbaum said that a concerted effort is needed to achieve a level of information about genotype and phenotype correlations for people with ancestry other than from northern Europe that is comparable to the information available to those with European ancestry, and Callier called for an effort to incentivize companies to share their data, particularly for underrepresented popula-
tions, and deposit those data in publicly accessible databases. Nussbaum responded that one incentive would be that if companies do not put data into the federal ClinVar database, which aggregates information about genomic variation and its relationship to human health,3 their tests would not receive Clinical Laboratory Improvement Amendments certification, and they would not be reimbursed by the Centers for Medicare & Medicaid Services or other payers. He said that ClinVar is an important quality control tool because it allows for cross-comparison of variant interpretation across laboratories.
Stenzel suggested funding research to understand what a particular genetic change means, how to annotate it, and how to interpret the variations. Ferber proposed funding research that would use computer algorithms and artificial intelligence to create automated systems that would perform some of the interpretation functions and help ameliorate some of the workforce issues discussed throughout the day. Along those lines, Wicklund said that research could help answer the question of who can best benefit from seeing a genetic counselor, and Bonadies noted that her team is providing baseline education along with test results so that when people do go see a genetic counselor, they can then drill down on specific questions related to their family history and risk in order to use the appointment time more efficiently. One workshop participant noted that NHGRI once led the Genomic Literacy, Education, and Engagement Initiative which put a great deal of thought into how to educate students, providers, and consumers. Unfortunately, she said, this effort did not receive enough funding to move forward, but there could be an opportunity for the field to come together to focus those resources in a more centralized manner and avoid duplicative efforts.
CONCLUDING REMARKS
Greg Feero and Cathy Wicklund concluded the workshop with a few summary remarks and potential next steps that the roundtable and the genomics community could explore (see Box 6-1). Feero commented that nearly every speaker had made it abundantly clear that there is a need to increase the amount of data from underrepresented populations in genomics databases if the benefits of genomic testing, whether via the DTC or clinical route, are to extend to all segments of the population, not just those of European ancestry.
Feero then highlighted the need to consider how to facilitate the use, upkeep, and secure storage of genomic information over time and what
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3 For more information on ClinVar, see https://www.ncbi.nlm.nih.gov/clinvar (accessed January 10, 2020).
the roles of the various actors in the field should be in that regard. Doing so was challenging before DTC testing became available, he said, and advances in that realm have added a new wrinkle to this challenge. There is a need for increased transparency so that all patients and providers can understand the benefits and limitations of data and around data security and sharing policies for both patients and providers, he said. Increased clarity concerning regulations in the genomic testing space will be important for both DTC and clinical tests, as will be increased transparency regarding the protections for consumers related to discrimination and how consumers’ information will be used.
In closing, Feero highlighted the importance of better understanding who is using DTC genomic services, what their attitudes and interests are regarding these tests and the information they can provide, and what their views are on secondary uses of their information and how that information is integrated into clinical care. At this point, he said, such information comes mostly from early adopters, and he suspects it would be interesting to compare the motivations of the early adopters to those who are coming
into the system today. Wicklund added that such information would also indicate whether genomic tests are penetrating into underserved populations and perhaps provide insights into how to increase uptake by those populations.
Final Thoughts
Pomeranz told the workshop audience that she wished that everybody who ever had a genetic test could have the opportunity to participate in a similar roundtable workshop. The challenges with educating consumers are part of the process with a technology this new, she added, but there is a real need for more education. “Because we are engaging directly with these at-home genetic testing companies and asking them to tell us really important things about our genetics,” she said, “I wish that we had better education and we knew more.” The number of individuals who have been introduced to the idea of genetics through DTC testing is substantial, Bonadies said, adding that this is a great opportunity for the field to build bridges back to the traditional medical system and use those data to confirm results and improve overall health.
