The workshop’s first session, moderated by Elda Railey, the co-founder of the Research Advocacy Network, explored the ongoing challenges that individuals face in accessing genetic and genomic services. Candace Henley, the executive director and founder of The Blue Hat Foundation and a 15-year survivor of colorectal cancer, described some of the communication challenges she has encountered related to Lynch syndrome screening and testing. Sue Friedman, the executive director and founder of Facing Our Risk of Cancer Empowered (FORCE) and a 22-year breast cancer survivor, discussed some of the miscommunication and insurance coverage issues related to BRCA testing. Pat Jolley, the director of clinical initiatives at the Patient Advocate Foundation, detailed her organization’s efforts to help patients gain access to necessary genetic testing. Finally, John Moeschler, a professor of pediatrics at the Geisel School of Medicine at Dartmouth College, described some of the geographic and workforce challenges related to providing genetic services in low-resource and rural communities. Following the four presentations, Natasha Bonhomme, the chief strategy officer at the Genetic Alliance, initiated a discussion with the panelists and the workshop participants by speaking about some of the barriers and challenges that patients face when accessing genetic/genomic services and the downstream care that may be required to treat hereditary conditions.
At age 36, following several misdiagnoses over a 6-month period, Candace Henley found out she had a large tumor in her colon. Henley underwent surgery and was discharged from the hospital with a diagnosis of Lynch syndrome. At that point the clinicians who treated her did not explain that she had an autosomal dominant genetic condition that conveys a high risk of colon and other cancers (Carethers and Stoffel, 2015; Lynch et al., 2015). She was not even given basic information about what her life after colon resection surgery might be like and what she would have to do to manage day-to-day activities.
As a full-time Chicago bus driver at the time of her surgery, Henley soon lost her job, in large part because of the side effects associated with the tumor-removal surgery. Henley was not aware that anyone else in her family had colon cancer, so it was difficult to understand how someone her age could have colon cancer. In fact, Henley said, she did not learn what Lynch syndrome was until a few years after her diagnosis, nor did she know until then that she needed to seek out and find where this genetic mutation had appeared in her family history. She later found out that three first-degree relatives had been diagnosed post-autopsy with stage 4 colorectal cancer.
Shocked by this discovery and upset by its effect on both her and her children, Henley got involved in cancer advocacy work and discovered that knowledge about inherited diseases, particularly cancer, was severely lacking in minority and medically underserved communities. There is a tendency in minority communities to guard personal information, Henley said. That tendency to not disclose important health information to family members put her life in jeopardy, she added.
Now she and her colleagues at The Blue Hat Foundation have a new saying that they are trying to spread throughout minority and medically underserved communities: “Family secrets kill families.” Henley spoke of how a patient told her that the patient’s colon cancer was not the patient’s family’s business to know about and that the way that patient found out about her cancer was the way that her family would have to find out. It is hard to understand how people can deny their families important preventive information that could save lives, Henley said, but many individuals are used to withholding information about sexual abuse, drug abuse, and domestic violence, and that has transferred to health as well. Through her work with patients, Henley said, she realized that there are many issues inhibiting the flow of information between family members, including a lack of education and awareness, socioeconomic status, historical distrust of the medical community, and a fatalistic attitude that getting tested for a
genetic disorder is not going to change an individual’s life at that moment, particularly given other health issues such as hypertension and diabetes that affect many members of minority and medically underserved communities.
What it takes to get through to people in minority and underserved communities, Henley said, is a delicate approach, empathy, persistence, and evidence. Even after someone undergoes genetic testing to see if he or she is predisposed to a certain disease, it is important to share additional materials and have discussions with the individual to explain the relevance of a finding and the steps that need to be taken in light of that finding. Too often, Henley said, people receive the results of a genetic test and then have to determine what it means for their health and the health of their family members. “It feels like we are chasing down the medical community to get answers for our health,” Henley said. Navigation services are very helpful for following up with patients after surgery, but these services are not available for people who have had a genetic test.
Thirteen years after finding out she had Lynch syndrome, Henley said, she still does not know the exact mutation she has. In fact, her original test results have been lost, and she will have to be retested. Henley also experienced difficulties in obtaining genetic testing for her children, partially because their physicians did not know what Lynch syndrome was. Not only is the patient community lacking information about the importance of family health history and genetic testing, she said, but so are medical professionals.
Confusion Over Terminology and the Interpretation of Genetic Test Results
Many people do not understand the concept of testing for hereditary gene mutations, and, perhaps more importantly, they do not understand the results of these tests, Friedman said. Findings from a recent survey conducted by FORCE found that even individuals who have a known genetic mutation are unclear about the differences between genetic and genomic testing or between a germline and a somatic mutation (Rezende, 2016). There is a basic lack of understanding about the terminology being used and what it means, even in a patient cohort that has a hereditary cancer mutation, Friedman said.
On March 6, 2018, FDA approved an application from 23andMe for a direct-to-consumer genetic test that reports three genetic variants of the BRCA1 and BRCA2 genes known to be associated with a higher risk for breast, ovarian, and prostate cancer (FDA, 2018). As part of the approval
process, 23andMe demonstrated that consumers can understand the results of this test without experts to interpret the results for them (Francke et al., 2013). However, Friedman said, she and her colleagues at FORCE have had a different experience based on the input they are receiving from their stakeholders. What they have seen, she said, is that people have broad access to information about their genetics, but they may not be able to readily access the expertise to understand it. Similarly, people refer to single nucleotide polymorphisms (SNPs) and SNP test results and are confused about whether they have a meaningful mutation. “We are leaving people behind when it comes to understanding genetic test results,” Friedman said.
The Complex Landscape of Coverage Policies for Genetic and Genomic Services
Friedman spoke about the patchwork of regulations and reimbursement guidelines that patients must navigate to receive coverage for genetic and genomic services. The Patient Protection and Affordable Care Act stipulates that preventive screening tests or services that receive a Grade “A” or “B” from the U.S. Preventive Services Task Force (USPSTF) must be covered by health plans without cost-sharing for beneficiaries (CDC, 2016). USPSTF guidelines are inconsistent when it comes to recommending coverage for genetic and genomic testing under the Affordable Care Act, Friedman said. For example, BRCA testing received a “B” grade, which requires coverage with no out-of-pocket costs, but the guidelines do not mention Lynch syndrome. Moreover, the guidelines for cancer screening and prevention do not account for people who are not at average risk—those with family disease histories, for example—and this creates disparities in access for those individuals who do not belong to the general risk population. In addition, while advances in genomics and genetics are revealing an increasing number of genes with strong predictive value for disease, the USPSTF guidelines are only updated every 5 years. Medicare’s rules concerning genetic testing contain similar coverage gaps for those at high risk of developing disease, Friedman said. For example, Medicare covers colon cancer screening for individuals deemed to be high risk, but it does not cover screening or risk-reducing surgery for those at high risk of developing breast or ovarian cancer. A recent study found that primary care providers have concerns about insurance coverage and genetic discrimination despite the existence of the Genetic Information Nondiscrimination Act of 2008 (Hauser et al., 2018). FORCE surveys have found that there is a lack of understanding among members of the public regarding their protections from discrimination, health care, access to care, and the cost of testing, which many insurance plans now cover, Friedman said.
Potential Sources of Disparities in the Patient Community
A study that used data from the 2015 U.S. National Health Interview Survey concluded that disparities in access to genetic testing remain, with individuals in the Hispanic population, the uninsured, non-citizens, and individuals with less education being among the most affected (Childers et al., 2018). While these results were not surprising, Friedman said, it was unexpected that unaffected men—i.e., those without a history of cancer—underwent genetic testing at half the rate of unaffected women. There was no gender disparity reported for colorectal cancer genetic testing, but there was a 10 to 1 disparity in testing for hereditary breast and ovarian cancer (HBOC) mutations, even though men are at risk for male breast, pancreatic, melanoma, and aggressive prostate cancers if a HBOC mutation is present. The authors of this study suggested that one reason for the male/female disparity could be the lack of awareness among patients and clinicians about the importance of HBOC mutations in men and how they can affect their cancer risk.
Language may be introducing implicit biases, perpetuating myths, or disenfranchising people from seeking genetic testing, Friedman said. For example, the medical term for someone who has inherited a mutation but does not manifest disease is “unaffected carrier,” which she believes is unintentionally dismissive.
Similarly, referring to the BRCA1 gene as the “Angelina Jolie gene” or talking only about its link to hereditary breast and ovarian cancer may be discouraging men from being tested for BRCA mutations (Friedman, 2018). A survey by FORCE found that women were more likely to share the results of BRCA tests with female relatives than with male relatives. In addition, while only 4 percent of respondents reported that none of their female relatives had undergone testing, 41 percent said none of their male relatives had been tested. One respondent reported that even though her brother had a BRCA mutation inherited from his father, her brother’s physician told him he was not at risk because his mother did not have breast cancer, suggesting that educational efforts need to be aimed not only at the public but at doctors as well.
In closing, Friedman offered some ideas that she said may help the field move forward and potentially alleviate health care disparities related to genomic medicine (see Box 2-1).
The Patient Advocate Foundation (PAF), Pat Jolley said, was founded in 1996 to safeguard patients through effective mediation, ensuring access to care, maintaining employment, and preserving financial stability rela-
tive to the diagnosis of chronic, life-threatening, or debilitating diseases. PAF’s five main service areas are case management, patient education and empowerment, financial aid programs, health services research initiatives, and co-pay relief. Since August 2013, PAF has also offered the Genomic Testing Support CareLine. According to Jolley, by pulling data from the patients who called the Genomic Testing CareLine and comparing them with data from the other cancer patients served by the organization since 2013, PAF found that, on average, the patients calling the Genomics CareLine were older than the general cancer patients that PAF serves (67 percent of genomics patients were age 56 or older versus 49 percent of cancer patients). Patients calling the Genomic Testing CareLine also tended to have higher annual incomes than those in the cancer patient group (46 percent of genomics patients had an income of $72,000 or higher, while only 12 percent of cancer patients did). Another key difference that Jolley noted was that the patients calling the Genomic Testing CareLine had less racial and ethnic diversity (more than 80 percent of the genomics patients were Caucasian, compared to 60 percent of the cancer patients).
PAF closely examines the issues for which patients are contacting the organization through its case management department. Fifty-three percent of the patients reaching out to PAF through the Genomic Testing CareLine were seeking assistance with getting access to treatment because it was not approved for an off-label indication, Jolley said. Another 11 percent had
issues related to being unable to get prior authorization for either testing or therapies. The case managers at PAF have a 60 percent success rate for helping patients gain access to treatment, Jolley said, either through appeals or by connecting the patients to pharmaceutical access programs.
PAF prepares case studies to learn how the case management department can help patients in similar situations. Jolley highlighted one case study of a Caucasian male in his 30s who had been diagnosed with head and neck cancer with multiple recurrences. Despite having had genetic biomarker testing done that revealed multiple actionable mutations, his insurance company denied him authorization to try an experimental drug therapy targeting these mutations. PAF’s first appeal, which outlined the patient’s clinical history and prognosis, was denied. A second appeal directly to the insurance company’s medical director resulted in a 6-month approval to see if the proposed therapy would benefit the patient.
There are several challenges that patients have faced regarding genetic and genomic testing and associated therapies, Jolley said, including
- Insurance companies may deny prescribed treatment for an actionable mutation because the recommended treatment is off-label or deemed medically unnecessary.
- The time required to resolve genomic cases is significant, requiring an average of 50 points of contact versus 19.2 for PAF cancer cases.
- Patients referred to the Genomic CareLine often present at a later stage or with advanced disease. By the time an appeal of an unfavorable decision has been adjudicated, even if the appeal wins, the patient’s health may have declined or the patient may have died or been admitted into hospice, in which case the patient is no longer eligible for the prescribed treatment anyway.
- Therapies dictated by genomic testing are often therapies of last resort for many patients.
- Genomic testing is often not done during initial diagnostic workup, but instead is done when treatment options are no longer effective or with recurrence of disease.
- Medicare Part B does not require prior authorization and there is no appeal option prior to getting the medication.
Educational materials that are available often come in handy, Jolley said, but they may be written at too high a health literacy level. “We would like them to provide a clearer overview and understanding to anybody that is reviewing materials,” she said.
When John Moeschler began working with the genetic services branch at the Dartmouth-Hitchcock Medical Center, located in the middle of rural New England, he and his colleagues were asked to serve children and their families who previously had issues accessing genetic services. Data from the 2005–2006 National Survey of Children with Special Health Care Needs indicated that some 25 percent of children who needed genetic services—a total of 137,000 children—were not getting access to those services (McGrath et al., 2009). Access to genetic counseling services is facilitated by two factors, Moeschler said, the presence of insurance and the presence of a medical home.1 Uninsured children were 55 percent less likely to access genetic services than those who had insurance, he said, and those who had a medical home were nearly three times more likely to get referrals to genetic services than those who did not. In addition, children from families with high incomes were twice as likely to get access to genetic services. “There is a gap between those in need or with a perceived need and those who are receiving access,” Moeschler said.
Across the United States there are many areas of the country where there are no or few child health providers (Shipman et al., 2011). There is a roughly 600 percent disparity in access to a child health physician across the country and even within states. This creates access barriers because children in low-primary-care-resource areas are less likely to receive recommended services, Moeschler said. Rural poverty is also an issue when it comes to accessing pediatric services, he added.
Health insurance for children and families is an important facilitator of access, and the percentage of children and families insured varies by state, with those states that accepted Medicaid expansion having higher rates of insured families and children. Even when families have insurance, however, they still experience a barrier to access if they are not part of a medical home, do not have access to a child health physician of any kind, or have certain types of insurance. For example, New Hampshire has two Medicaid programs that cover 45 percent of the patients Moeschler sees. One program will approve prior authorizations for whole-exome sequencing and chromosome microarray single-gene testing, while the other will not approve any whole-exome sequencing. However, the program that offers prior approval requires a visit to the doctor and then a second visit once approval is granted, which for people who live in rural areas can be extremely time consuming and challenging. To save people a third trip once
1 A medical home is defined as “a model of care that promotes close partnerships and coordination of care between individual patients, other health providers and physicians,” according to Cheshire Medical Center, part of the Dartmouth-Hitchcock Health System. See https://www.cheshire-med.com/medical_home/what_is_medical_home.html (accessed August 20, 2018).
the results from testing come back, Moeschler and his colleagues try to discuss the test results with families via telemedicine.
To facilitate access to genetic and genomic testing, it is essential to expand the capacity of the health care system by training more genetic health care providers and expanding the diversity of the genetic workforce, Moeschler said. Lowering prices for genetic and genomic tests would also facilitate access, as would expanding insurance coverage for such tests. Only about 50 percent of the requests for whole-exome sequencing are approved, Moeschler said, though this number varies by year and insurance plan. Reimbursement rates, he added, are far below the institutional cost of ordering these tests.
In the past, Moeschler said, Medicaid would reimburse families’ transportation costs for as many as three visits to a health care provider, but now transportation reimbursement is not guaranteed and changes year to year. Lengthy travel times to see providers and interrupted work schedules can impede access to genetic services, he said. Two potential ways to increase access include telehealth consults and family work leave. While telehealth is promising and can save transportation time for patients, there are some challenges with telehealth approaches because the provider’s time is still limited, Moeschler said. Many families only have handheld tablets or smart phones, creating additional challenges because telehealth usually works best with a personal or laptop computer. Telehealth, Moeschler added, works best for genetic counselors, and about half of the patients choose telehealth as an option for an appointment with a genetic counselor.
Natasha Bonhomme discussed the importance of the patient-centered care model in improving the quality of health care and health outcomes for patients. While there is growing recognition that patients should be involved in health care decision making and the nation’s health care system is moving in that direction, the issues raised by the previous speakers show that there is a long way to go to get to such a model, Bonhomme said. Those in a patient-centered health care system listen to the voices of individuals and families. The voices of patients and families provide feedback for the health care system and offer quality indicators showing how the system is performing.
Genetic Alliance, along with its partners, conducted a survey that found that most people receive care from multiple providers, yet only one in five people had someone who helped arrange or coordinate that care. Moreover, 31 percent of those surveyed were dissatisfied with the communications they had with their providers. Forty-two percent said they never or rarely
received social or emotional support from their health care provider or a support group, and only 33 percent had ever been referred for support by their health care provider. The time required for a diagnosis of a genetic disorder in children (0–17 years) was evenly distributed from less than 1 month to more than 5 years. However, in adults, nearly half experienced a delay of more than 5 years before an actual diagnosis was made.
According to data collected by Genetic Alliance, the biggest barriers to accessing genetic and genomic services are a lack of providers with expertise in a specific condition, the cost, providers not accepting insurance, the availability of or wait time for an appointment, distance to the provider, the patient not knowing what he or she needs, lack of a referral, and the length of time for insurance approval. Participants were also asked whom they would be most comfortable receiving information from, and the majority listed a fellow parent or individual with a condition, a care coordinator within the specialist’s office, a support or advocacy organization, or a care coordinator within a primary care doctor’s office. There is an opportunity to think about other individuals in communities who can help reach people, Bonhomme said. The hope is that these survey data will help galvanize the field to think about actionable next steps for increasing access, she said.
Improving the Collection of Family Health History and Patient–Provider Communication
There is a need to raise awareness among providers about the importance of asking patients about the incidence of cancer, more broadly, in their families, Friedman said. One difficulty, Brawley said, is that family histories can be very imprecise, and even today, some 3 to 5 percent of people who die in the United States may have undiagnosed cancer. While it is important to document family history, there are limitations to the specificity, accuracy, and usability of the information that is collected, he continued.
Several speakers identified communication challenges between patients and providers, and a workshop participant asked if the root cause of those issues is a matter of health care providers not listening or perhaps if they are talking and not being clear enough for patients. It can be a combination of the two, Henley said, noting the importance of recognizing that individuals vary in their health literacy. The teach-back method, a way of checking comprehension by asking patients to state in their own words what they understand about their health condition, is one potential way to improve communication, Henley said. Bonhomme suggested that materials created for physicians and patients should be more similar so that the conversations between them can use a common language. Communication is not a transaction but rather is about relationship building between a patient and a provider, she continued.
Building the Evidence Base as a Way to Increase Access
Building an evidence base that demonstrates the positive effects of genomic and precision medicine on health outcomes is an important step in increasing access to genomic services, a workshop participant said, and once this base is established, it can be used to better educate the entire medical community. Community hospitals and clinics in underserved communities often miss out on the latest information because it is not reaching them, Henley noted.
The USPSTF guidelines only cover screening for asymptomatic people in the general population and do not provide recommendations about surveillance tests for people who are at high risk for cancer, Brawley noted. In addition, once someone has a diagnosis, genetic testing is no longer about screening, and so it does not fall under the requirements for coverage. Friedman added that BRCA testing in someone who had been diagnosed with breast cancer can help people know if they are also at a high risk for developing ovarian cancer, making the test a preventive service. Health care providers need to educate and empower patients regarding the results of their genetic and genomic tests so that they understand what they were testing for and what it means for them, Friedman said.