During the workshop, attendees considered various perspectives of health care delivery systems as they relate to providing fair and equitable access to genetic and genomic services. Each of the three speakers in this session—Larry Meyer, the national director of genomic services and chief officer for specialty care at the Veterans Affairs Medical Center; Katherine Anderson, a primary care specialist at Denver Health; and Kent Hoskins, an associate professor of medicine and director of the familial breast cancer program at the University of Illinois at Chicago—discussed programs that involve coordination at a higher level than the individual health provider. Health system administration may be one of the most complex components of the health care enterprise, said Bruce Quinn, the founder of Quinn Associates LLC. Health system administrators have to balance many competing demands for resources, each of which might be compelling on its own (Spellberg et al., 2016), and they must be skilled at coordinating activities across the many entities that exist in any health care system.
The Veterans Health Administration (VHA) is a nationwide system of 180 hospitals, more than 1,100 outpatient clinics, and veterans community centers, Meyer said; the community centers do not administer medical care, but they do provide opportunities for social outreach. VHA is both a payer and a provider of care. Currently, 11 million of the 21 million veterans living in the United States are enrolled to receive care from VHA, and an estimated 8 million will enter a VHA facility this year. Many
VHA enrollees—more than 50 percent in some parts of the country—earn less than $35,000 per year. Some 75 percent of enrollees are white non-Hispanic, and more than 10 percent are African Americans, although the demographics are changing, Meyer said. While the over-65-year-old population tends to be a mostly white population, African Americans are more prevalent in the population of Vietnam-era and pre-9/11 veterans. Post-9/11 enrollees include a larger percentage of Hispanic and female veterans. VHA does not handle pediatric cases, but VHA now offers perinatal care and genetic counseling because of the growing number of female veterans.
Currently, the genomic medicine service works with 80 VHA facilities, including 60 that have a parallel precision-oncology program. VHA is working to take these programs nationwide, Meyer said. Approximately 35 percent of referrals to the genomic medicine service come from primary care, 27 percent come from women’s health, 10 percent come from hematology/oncology, and 28 percent come from other specialty services including gastrointestinal, neurology, and cardiology.
In an effort to learn how VHA was applying the 2010 National Comprehensive Cancer Network guidelines on Genetic/Familial High-Risk Assessment in Breast and Ovarian Cancer, Meyer and his colleagues reviewed data from 2011 and 2012. They found that only 27 percent of the female veterans diagnosed with breast cancer had been tested for BRCA mutations (Chun et al., 2017). Initially the researchers observed significant disparities by race and age. As an example of the age disparity, women diagnosed with breast cancer at age 25 were more likely to be tested than those at age 45. However, further analysis showed that what was driving the disparities was the locations where veterans received their care and that the disparities that appeared to be racial were actually more closely tied to income level than to race.
In 2011, VHA launched a centralized clinical service based at its Salt Lake City medical center and established memoranda of understanding and telemedicine service agreements with VHA medical centers throughout the country to allow direct patient care and to increase patient access to clinicians. Most encounters today are tele-video genetic counseling appointments, Meyer said, but electronic consults and other approaches are used, too. Notes from these encounters are copied into patient records so that all providers have access to this information. Genetic and genomic testing have been accepted quickly into the VHA culture, he said, particularly at places that have an associated cancer center with colleagues who make referrals for testing.
One barrier to care, Meyer said, is the availability of a dataset with relevant racial norms, something that was mentioned in the introduction to this workshop. The demographics of VHA enrollees make such data important for delivering the best clinical care, he explained. The Million
Veteran Program,1 launched in 2011 as a research program, aims to gather data from a diverse set of veterans to better understand how genes affect health and illness. Another VHA program known as PRIME (Precision Medicine in Mental Health Care) is an empiric trial of pharmacogenomics in patients with depression, and it too has recruited a diverse set of veterans to participate.
To minimize the likelihood of disparities, the genomic medicine service needs to be available to veterans at every VHA facility via telehealth capabilities, Meyer said. When the service is rolled out at a new facility, his team starts by providing in-service care and conducting grand rounds. VHA could better address knowledge gaps by including diverse populations in its research, he said, and the system could benefit from developing supporting materials for providers and patients that can address educational needs.
Challenges Faced by Providers with Delivering Genomic Medicine
At Denver Health, a primary integrated safety net health system that encompasses nine outpatient federally qualified health centers (FQHCs)2 and a regional trauma center, there are unique circumstances that make delivering genomic medicine a challenge, Anderson said. One issue is that primary care providers can sometimes lack a clear understanding of when to transfer care to a specialist and when to make referrals to a geneticist for asymptomatic adults. Screening asymptomatic patients who are at risk for well-defined hereditary syndromes is needed but is not yet the standard of care, Anderson said. It would be valuable if the electronic health record (EHR) could prompt clinicians to collect family health history information and store that data for later use, she said.
Given that many genetic diseases are rare, they can sometimes go unrecognized by practitioners, which can result in delayed referrals and treatments. As an example, Anderson recounted how she was working with a cardiologist and a vascular surgeon to provide care for a patient with a heart condition. The patient had a genetic condition that ultimately was detected by a nurse who was taking care of this patient’s affected child.
2 FQHCs are “community-based health care providers that receive funds from the Health Resources and Services Administration Health Center Program to provide primary care services in underserved areas.” See https://www.hrsa.gov/opa/eligibility-and-registration/healthcenters/fqhc/index.html (accessed August 21, 2018).
After providing care to the child, the nurse raised the possibility that the patient’s family history might warrant genetic testing. Ultimately, the nurse helped the patient and their family get seen at a hereditary heart clinic for further testing. In resource-constrained settings, it sometimes can take a team of providers to help a patient get access to genetic testing and ultimately the correct diagnosis, she said.
Keeping up with the different screening tests available for hereditary cancer syndromes can be burdensome for overworked primary care providers, Anderson said, particularly in an FQHC setting, where there are many competing demands for a primary care physician. The goals of primary care physicians like Anderson and her colleagues include providing adult immunizations and cancer screening when appropriate, and there are standardized tools and check-in processes to address that, Anderson said. What is lacking, she said, is funding and reportable measures that would provide incentives to refer patients for genetic and genomic testing.
Conducting a full risk assessment on a patient would be an easier process with an EHR or other tool that automatically collects family health history information and performs much of the upfront triage work (Green et al., 2016). Often the health record does not prompt a provider to obtain family histories, Anderson said. Another helpful tool, she said, would be one that tracks the downstream management of a patient who is identified as having a genetic syndrome.
Currently the approach at Denver Health is to use the family health history as the standard tool for screening for possible genetic conditions. Anderson collected data from across the health system showing that not all medical specialties collect family health history information in the same manner. Her data demonstrated that at Denver Health it is practitioners in internal medicine who do the best job of taking a family health history, along with Denver Health’s midwives and obstetrics and gynecology specialists.
How Denver Health Is Addressing Challenges That Patients Face
As an integrated health system with several outpatient and community health clinics, Denver Health provides acute care and preventive health services for almost one-third of Denver County’s population. The goal for Denver Health is to get its patients established into a medical home (see Chapter 2), but given the resource constraints, there are challenges with providing sufficient access to specialty care. A related consideration is the system’s current structure, which centralizes care so that patients do not need to visit multiple facilities to receive services. The centralization of care at Denver Health is on the one hand beneficial for many of its low-income patients who have issues with transportation, but on the other hand it can be detrimental and impede access to specialists.
One of Denver Health’s clinics is co-located with the refugee clinic in Denver, which means that there is significant language and cultural diversity there, Anderson said. One challenge facing this health system is that many of their patients often do not use preventive services, and instead may only visit the doctor when they are feeling unwell. In order to best meet its patients’ needs, Denver Health makes extensive use of multilingual navigators and physician assistants. Anderson suggested that it could also be helpful to establish patient support groups that can provide guidance to newly diagnosed patients in a manner that is more culturally appropriate. While many providers believe their patients do not think about the possibility of having an inherited syndrome, Anderson said, it has become more common for patients to know the family history and ask for genetic testing.
Potential Ways to Overcome Health System–Level Challenges
From a health system perspective, screening for familial conditions is inconsistent and is not currently being measured, Anderson said. Denver Health does not have its own genetic counselor, so consulting with an expert in genetics can be difficult, she continued. Handoffs between primary and specialty care are not well-defined, which can lead to problems with tracking patients once they are referred from a primary care clinic. There need to be clear genetic services guidelines about which parts of the patient’s care belong to the primary care physician and which belong to the specialist, Anderson said.
Anderson added that it is her goal to have genomic screening for disease become part of the core preventive health and primary care services that Denver Health offers. She said that she is working with the Clinical Sequencing Evidence-Generating Research (CSER) Consortium,3 funded by the National Human Genome Research Institute, to develop online screening for adult patients that links eligible patients to genetic testing and phone-based counseling. In her summary, Anderson listed potential ways for health systems to overcome challenges with genomic medicine:
- Focus on providing diverse, patient-centered care
- Tailor genomic medicine services to diverse populations
- Develop and implement evidence-based guidelines for population care
- Improve patient and provider communication and trust
- Provide education, support, and feedback channels for clinicians
- Optimize electronic tools
- Empower patients to understand their health and the health of their families
The goal of a precision medicine approach to cancer screening and prevention, Hoskins said, is to stratify the population into subgroups that can be assessed using appropriate methods and ultimately drive better outcomes for the whole population. For example, some patients have a family history of cancer, although not one that is highly suggestive of a hereditary syndrome or that meets the criteria for genetic counseling and testing. Certain members of this group may qualify for chemoprevention, Hoskins said, and identifying those individuals would allow clinicians to intervene and ideally lower the risk of disease.
There is also a smaller group of individuals in the general population with a high-risk family history who meet the criteria for genetic counseling and genetic testing. Out of that group there will be a small number of individuals who are mutation positive, Hoskins said. Those who do not carry a known mutation but who have a high-risk family history might be scheduled for MRI screening or encouraged to have a mammogram at a younger age, he said.
The question becomes how to perform this sort of population stratification in the fast, high-throughput environment of the primary care setting. A process known as systematic cancer genetic risk assessment (CGRA) can potentially be quite helpful in this scenario, Hoskins said. Because the goal is to identify individuals before they develop a cancer diagnosis, CGRA should really take place in the primary care context, he said, as these individuals are not seeing oncologists. From the perspective of a health system, the open questions regarding CGRA are how to do the risk assessment, where to do it, how to incorporate it into the workflow, and what instructions should be given to primary care providers. For those identified as being at high risk, the questions are where these individuals go, who provides the genetics and specialty care for them, and how those services are paid for.
In developing a systematic approach to CGRA in a primary care environment, Hoskins and his colleagues used a tablet-based tool that takes about 2 minutes to complete a screening for genetic risk for breast and ovarian cancer. The tool was designed to be administered by medical assistants and other non-licensed staff. Working with two FQHCs on the south side of Chicago, he and his team educated physicians on genetic risk assessment and how to manage high-risk individuals. With a grant from the
National Cancer Institute, Hoskins was able to provide free genetic counseling for anyone referred from those two clinics.
One year later, his team asked primary care physicians in those two clinics to use the tool to assess every woman between 25 and 69 years of age while these women were waiting to see their doctor for their annual well visit. The physician was provided with a printout of the results of the risk assessment and guideline-based recommendations as to who should be referred for genetic counseling and who should have MRI screening.
During the first year, after the physicians had received training on how to perform CGRA but no other intervention, no patients were referred for genetic counseling. When physicians were provided with the results from the waiting room assessment and guidelines, referrals increased dramatically, with physicians referring 64 percent of the eligible women for genetic counseling. However, less than 10 percent of the women followed up and came to a genetic counseling appointment, even though it was free, Hoskins said.
In a second experiment, Hoskins and his collaborators deployed the tablet-based tool at three mammography centers—two community breast centers and one minority-serving breast center. The assessment tool found that consistently 20 percent of the women met the criteria for a genetic counseling referral. The percentage of women who expressed interest in seeing a genetic counselor ranged from 20 to more than 50 percent, with the percentage depending on how much time the mammography technicians spent explaining the service to the women. The center where only 20 percent of the women expressed an interest in talking to a genetic counselor was the biggest and busiest center, and the technicians there did not have much time to talk to the women. However, despite the apparent interest in screening, the percentage of women who actually took advantage of the onsite genetic counseling was only 5 to 10 percent.
Based on a quick follow-up survey, it appears that one reason for the low rate of follow-through on the genetic counseling was a disconnect between how medical professionals view future disease risk and how patients interpret this information when they receive it. In-depth interviews with 20 African American women from the FQHC study who were referred for genetic counseling—only two of whom actually came for their counseling appointments—identified several factors that would have made it more likely that they would have kept their appointment:
- having a trusted relationship and good communication with their providers;
- having a higher level of health literacy that would enable them to critically assess information given to them by their providers;
- a belief that knowing the status of one’s health was better than not knowing and that positive thoughts would motivate them to take measures to prevent negative health outcomes;
- having a family member with history of cancer who would empower them to use preventive services and be proactive in their health care;
- having family and social support;
- health beliefs shaped by religion and spirituality;
- the absence of psychosocial barriers, such as fear, confusion, guilt, discrimination complexity, lack of insurance, and cost; and
- understanding that genetic counseling is not the same as the detection or diagnosis of breast cancer.
All of the women who were interviewed had a family history of breast cancer, so many of them had negative experiences with the disease and associated genetic counseling with a breast cancer diagnosis, Hoskins said. After the interviews, when the women had a better understanding of what genetic counseling was and how it could empower them, all of them said they would have gone to the appointment if they had known the information. Hoskins and his colleagues discovered that their physicians were not explaining the purpose of genetic counseling because they did not truly understand what happens during a visit with a genetic counselor and, as a result, were unable to motivate their patients to pursue it.
Hoskins and his colleagues are now focusing on developing educational and motivational interventions to help overcome these misconceptions. From a systems perspective, education and awareness are critical for patients and physicians, he said, and they require more than handing out a pamphlet. Health care providers and system administrators, he said, need to be creative about addressing all of the aspects that surround the health care experience that may be influencing interest or non-interest in genetic counseling, particularly for underserved populations.
A new paradigm called point-of-care genetic counseling, where counseling is provided onsite in primary care clinics using trained nurse practitioners and physician assistants in formal collaboration with a cancer genetic specialist, is one interesting way to approach the challenge, Hoskins said. Such an approach would create a sustainable business model and overcome many of the barriers to accessing care that many underserved and disadvantaged patients experience. It would also leave genetic specialists free to deal with complex cases, such as women who are mutation positive. The idea, he said, is that if 10 percent of all adult women met the criteria for genetic counseling, the number of women would very quickly overwhelm the genetic counseling workforce. Therefore, Hoskins said, there should
be an emphasis on the development of new models. Telemedicine is one approach, but others may be needed, he said.
Using Electronic Health Records to Address Disparities
Workshop speakers and participants discussed opportunities for addressing disparities at the health system level, and one participant suggested that EHRs could be used to track patients who were not following up on a referral to genetic counseling or to track other issues related to accessing genetic services. VHA is deploying a new EHR system that uses data to do predictive modeling in real time for things such as suicidality, Meyer said. However, he said, genetic test results are handled poorly by EHRs, and family histories are not included in many EHRs. Efforts such as the Displaying and Integrating Genetic Information Through the Electronic Health Record (DIGITizE) action collaborative are working on addressing these issues.4 About half of the veterans who receive care at VHA facilities also receive care from other providers, he said, and accessing those records is incredibly difficult. There is an opportunity at various points to collect and use additional data, Anderson said, offering as an example the way that the Denver Health System collects family history during routine mammograms, but this is not the case with EHRs, creating missed opportunities. It would be very valuable, she continued, to have searchable information in an EHR that could be used to identify patients who would benefit from genetic counseling. Denver Health imports maternal and paternal family histories from parents’ EHRs into their babies’ EHRs when they are born. The challenge, Meyer said, is to get this information into the EHR in the first place.
Making Genetic Risk Assessment and Testing More Accessible
Given the relatively low cost and accessibility of direct-to-consumer genetic testing, would it be feasible and valuable, a workshop participant asked, to leverage this testing and perhaps other approaches to increase equitable access? Direct-to-consumer testing can be useful as an educational tool, Meyer said, but polymorphism testing is generally not used in clinical
4 The DIGITizE action collaborative was an effort under the Roundtable on Genomics and Precision Health at the National Academies from 2014 to 2018 before it moved to the HL7 FHIR Foundation to continue its work. Historic information on the collaborative can be found here: http://nationalacademies.org/hmd/Activities/Research/GenomicBasedResearch/Innovation-Collaboratives/DIGITizE.aspx (accessed September 12, 2018).
genetics as a first line screening tool. When individuals purchase genetic testing from companies such as 23andMe, they may not realize that the results only cover a small subset of potentially pathogenic mutations. If counseling and education were available on the front end, it might make direct-to-consumer tests more useful, Hoskins said. A slightly different, but effective, approach to making genetic risk assessment more available is the assessyourrisk.org tool created by the patient advocacy organization Bright Pink. Hundreds of thousands of women have taken advantage of that website and figured out their baseline risk level, Hoskins said. Another patient organization, Facing Our Risk of Cancer Empowered (FORCE), offers a peer navigation program that connects cancer survivors with people at high risk and their caregivers in order to offer support for their particular situations. This approach, Friedman suggested, may help to overcome such barriers as fear or misinformation. Racial disparities in breast cancer mortality arose starting in the mid- to late 1980s when mammography screening became widespread and when advances in treatment, particularly systemic adjuvant therapies, became the standard of care, Hoskins said. This is an example of how health disparities emerge in the wake of medical advances, and he cautioned that the progress in precision medicine and genomics could make the gap in survival between whites and African Americans grow larger. In fact, he said, there is evidence that there is already a significant gap in the use of cancer genetic services between white and African American women.
Regarding the challenge of triaging and deciding who gets genetic counseling, Wicklund commented on the important role of psychological factors and how a patient’s anxiety can impact their experience and outcomes. Can the field do a better job thinking about triaging patients for genetic counseling beyond just the complexity of the indication or the genetic test results and instead think broadly about the psychosocial component as well? It is important to provide downstream support after testing since any type of activity related to cancer screening can contribute to a patient’s anxiety level, Anderson said. Support groups or advisors who have been through similar experiences would be important to have onsite, she continued. VHA’s genomic medicine service realizes this issue and tries to provide more than just testing by offering education and an appropriate follow-up plan for the provider and the primary care team, Meyer said.
Addressing Disparities in People with Disabilities
Individuals with disabilities experience substantial disparities in terms of access to health services, including screening, a workshop participant said. The participant asked if there are any unique barriers for those with disabilities, such as access to clinics or finding information that is useful to
them (e.g., for hearing-impaired individuals). VHA is highly tuned into this issue, given that a large percentage of its patients have disabilities, Meyer said, and he suggested that there are lessons to be learned from how VHA addresses the needs of that population. Other speakers acknowledged that this is not a population they had focused on and acknowledged that it needs more attention paid to it. For further discussion of the challenges that patients with cognitive disabilities may face when accessing care, see Chapter 4.