The final session of the workshop included a keynote lecture by Reed Tuckson, the managing director of Tuckson Health Connections, LLC. The keynote address was followed by a panel discussion with Katherine Anderson, Otis Brawley, Sue Friedman, and Jacquelyn Taylor that was aimed at identifying ways to overcome barriers to access to genomic medicine and actionable next steps that can be taken in the near and long term to reduce disparities. This session also explored gaps in policy, knowledge, and institutional resources that could be addressed to ensure that genomic medicine is equitably provided across all populations.
Cultural Factors That Influence a Conversation on Genetics
There are significant ethical, legal, and social issues at play related to health care disparities in genomic medicine, Tuckson said, and the implications for an already suboptimal and rapidly evolving health care delivery system are substantial. One of the first issues that must be addressed, he said, is how the reality of race and racism in modern America affects our conversation about genetics and genomics. “It seems increasingly difficult to explore and discuss the clinically relevant variations in individual human biology, the distinctions that make us unique, without worsening tribal-based divisions and further sowing the seeds of mistrust and disrespect for human dignity,” Tuckson added. Indeed, there are widespread perceptions
among vulnerable populations that not only is racism persistent, but it is increasing. The field must recognize, he said, that as the science advances, there may be fears among vulnerable populations that its interpretation could be subject to racist prejudices and agendas that insult their humanity and dignity.
The broad availability of genomic ancestry testing can influence how Americans think about the concept of race, Tuckson said, and we are learning that the distinctions that come from our genomes are important, but do not define who we are. A candid and scientifically up-to-date way of discussing genetic differences is needed, and scientists and clinicians must be leaders in that conversation, he continued. This conversation must be predicated on trust because most people want to know who they are, but many are fearful of what they might find out, how it will be accessed, and who will use it. Historical injustices such as the Tuskegee syphilis study1 remain in the minds of many African Americans, and the implications are still profound for the scientific community, Tuckson said. Furthermore, events such as the recent use of DNA profiles from ancestry websites to help make arrests in cold cases2 have only increased the level of distrust in many communities of color regarding access to genetic information, and U.S. judges have not found genetic information to be protected under the Fourth Amendment against unreasonable search and seizure.3 Tuckson recommended supporting the recent call for legislators to set limits and establish protections regarding law enforcement’s use of genetic genealogy searches (Ram et al., 2018).
Tuckson offered another recent example where direct-to-consumer genetic testing companies offered what they thought would be a simple test to help reunite families that were separated coming over the United States border; however, he said, the collection of personal medical information for a vulnerable population with few or no legal rights brings up issues of privacy. Immigrant community advocates argued that taking the test would cause more problems than it would solve, given the vulnerability of these families. In the same way, Tuckson said, people of color are often vulnerable, and genetic information is loaded with significance for
2 A description of how law enforcement officials used a genealogy database to make an arrest in the case of the Golden State Killer can be found here: https://www.scientificamerican.com/article/the-golden-state-killer-case-was-cracked-with-a-genealogy-web-site1 (accessed August 28, 2018).
3 In 2013, the Supreme Court ruled 5-4 in Maryland v. King that states have the right to collect DNA from individuals who are under arrest as part of the administrative procedures associated with booking and arrest. The Court ruled that the DNA collection process was valid and informative, similar to fingerprinting.
African American, Hispanic, and other vulnerable communities. Research and clinical communities should not be surprised when people of color are wary of being involved in genomic testing and sharing that information, Tuckson said. As genomics moves forward, it will be necessary to have a shared national and community-based conversation to clarify what protections should be in place and how this type of information should be used in settings outside of the clinic, he said.
Educating the Public About Genetics
Given the realities of direct-to-consumer marketing in genomics, there will be challenges in ensuring that members of the public have the scientific and genetic literacy necessary to understand all of the information they encounter, Tuckson said. According to a study from the Pew Research Center, there is a significant gap in the United States in knowledge about scientific concepts and in interest in sciences that falls along racial and ethnic lines (Funk and Goo, 2015). Other research, Tuckson said, suggests that there are several interconnected factors at play, including differences in educational attainment; the underrepresentation of people of color in science, technology, engineering, and math fields; differences in achievement scores at the elementary and secondary school levels; and the underrepresentation of people of color in advanced science courses.
Not all students are being taught statistics and probabilistic decision making, skills that are relevant to daily life, nor are all of them learning about genetics and its relationship to society and the environment, Tuckson said. The treatment of genetics in state education standards across the nation can have significant implications for how Americans understand concepts such as gene expression and regulation and genetic variation (Dougherty et al., 2011). The problem, he said, is that genetics is increasingly becoming central to the practice of medicine, and these concepts are not being taught in K–12 science courses.
This disconnect, Tuckson said, suggests a need for more classroom tools, with explicit goal-setting done prior to curriculum development along with standardized methods of evaluating and planning for elementary and high school curricula. One example of this can be found in the National Human Genome Research Institute’s (NHGRI’s) effort to increase genetic literacy through its Genomic Literacy, Education, and Engagement Initiative.4 There is also a need for adult education about genetics and probabilistic decision making, which could be a good opportunity for partnering
4 For more information on the Genomic Literacy, Education, and Engagement Initiative, see https://www.genome.gov/27568594/genomic-literacy-education-and-engagement-glee-initiative (accessed September 12, 2018).
with community-based organizations, Tuckson said. In this way, individuals within communities can be empowered to understand genetic risk and the preventive measures that may be available to them.
Improving Health Care Delivery Through a Precision Health Approach
A significant challenge with incorporating genomics into health care is that the current system is not efficient and will require improved delivery to be effective, Tuckson said. From an economic standpoint, adding genomics into the mix could be challenging for health care systems, particularly when the only new money coming into health care systems is coming from individuals rather than local, state, or federal budgets. Precision needs to be the target, he said, and a population-based health paradigm that includes genomics, shared decision making, community environment, and social determinants will be incredibly important.
A move to reorganize health care around value-based reimbursement is gaining momentum, but making value-based reimbursement a reality will require performance measures. Given that, Tuckson said, the genomic medicine community must develop measures for good genetic counseling, genetics education, and the appropriate use of genetics. Medical specialty societies should be involved in developing these measures, he said.
The key to the performance measures in this space, particularly those pertaining to genetic counseling, will be patient satisfaction. The right measures, Tuckson said, will reflect how successfully clinicians treat patients with dignity, listen to and care about patient concerns, and answer patients’ questions using language they can understand. An additional opportunity will be increasing diversity in the clinical workforce, especially in genetic counseling.
In addition to performance measures, the genomics research community needs to provide the payer community with evidence that will enable it to provide reimbursement for procedures that are effective and to stop paying for things that are not, Tuckson said. One way to do this will be to encourage people to support the All of Us research program. The All of Us program offers an opportunity to realize precision health, but it will require getting clinicians involved so that they can encourage patient participation, something that is especially important in the context of people of color, Tuckson added.
Following Tuckson’s presentation, panelists reflected on the key messages they heard throughout the day and on opportunities for the field. “What
issues should the Roundtable follow up on going forward?” Bonham asked, encouraging speakers and workshop participants to think about practical next steps in the near- and long-term (see Box 6-1). Speakers highlighted several key opportunity areas related to reducing health care disparities in genomics, including community engagement and education, evidence-based population health approaches, and genetics workforce and training.
Community Engagement and Education
Having the perspective of patients at the table is profoundly important, Taylor said. The Roundtable could convene additional people who have gone through the genetic testing and counseling process so that they can share their experiences and ideas for how to improve the systems. Including more community leaders who can talk about what works and does not work as far as engaging with communities and helping them access care could be very useful as well, she added. Tuckson agreed, adding that the field should work with communities to develop better guidelines on how clinicians and researchers can have more productive conversations and build trust in the community.
The All of Us research program could serve as a catalyst for changing the way the research community engages underserved minorities and other groups in genomic medicine research, a workshop participant said. How, the participant asked, can the Roundtable work with that program to educate the public about informed consent, data security, and the aspects of communication to enable All of Us to truly represent the population of the nation? At the macro level, the research community needs to work with the Urban League, the NAACP, African American and Hispanic churches, and similar organizations that represent minorities, Tuckson said. On a more individual level, many of the workshop participants and speakers have spent a great deal of time with patients and clients, Tuckson said, and
it is important to connect with those individuals and encourage them to participate in the All of Us program.
“Are there funding mechanisms for population geneticists who want to hire a full-time community liaison to work with community groups on reducing the mistrust of population genetics in underrepresented communities?” a workshop participant asked. There is definitely a need, Taylor said, for more help building and maintaining relationships in the community and providing feedback to community members and community partners. Many times, she said, community engagement falls on the study’s principal investigator, but it is an important piece that should not be overlooked.
Community engagement is important, but one challenge is that genetics and genomics education is still lacking, Tuckson said. Incorporating genetics into education at all levels—starting in elementary school—will be necessary, he said, and one way to do this could be by working genetics into other subject areas. For example, math teachers could use BRCA decision making as a case study in statistics. The Roundtable could convene an activity with the major science teachers’ organizations to develop this idea further.
Clinicians could also work with organizations like the American Association of Medical Colleges to revise the medical school curriculum to include more of an emphasis on genetics and genomics, Tuckson said. Providers may not have the capacity to remember all of the new information being generated by emerging technologies such as genomics, but the Roundtable could work with EHR developers to include genetic and genomic information and tools to use that information for just-in-time learning and decision support.
Moving Toward an Evidence-Based Population Health Approach to Genomics
As the promise of personalized and precision medicine is realized, population-based recommendations and guidelines for screening and treatment will become less useful, Friedman said, and that, in turn, will create challenges related to making precision medicine equitable and equally accessible to everyone. One of the questions that will need to be answered, she said, is where the opportunities are to save money in health care in order to be able to spend extra on making access to genomic medicine equitable.
Population screening to identify people at risk for a disease and genetic testing of people who have been diagnosed with a disease to determine if they have a mutation or genomic profile that indicates how their disorders should be treated are two different things, Brawley said. In both cases, however, the USPSTF makes recommendations pertaining to people of average risk. One opportunity in this field could be to impanel a task force specifi-
cally to look at the screening of people at high risk, he said. That group would review the literature, find out what the science says, sit down and deliberate, and ultimately write a recommendation statement. The goal, he said, would be to make genetics and genomics an evidence-based practice so as to discourage wasting money on diagnostics and therapies that do not work and do not add value to health care.
Practically speaking, Anderson said, it will be important to look at the aspects of genomic medicine that should be used routinely in population health and make them accessible to everyone in order to prevent further disparities in access to health care. An additional opportunity could be increasing the diversity of the genomics workforce, perhaps by recruiting people from the community who can learn and receive training to become health care professionals. NHGRI’s Clinical Sequencing Evidence-Generating Research consortium plans to take two online tools and use them to screen patients and offer testing in communities in which there have been detailed conversations to build trust and reduce anxiety over genetic testing and how the results will be used. Delivering genomic medicine to patients at risk without adding unnecessary harm is possible if there is a downstream management plan in place, Anderson said, and that may mean involving people in their communities. Prenatal testing and mammography have become a routine part of health care, and in the same way genomic medicine should become part of the core services delivered to everyone in the population, Anderson said. Friedman agreed, adding that it will be important to make sure that the interventions indicated by the results of genetic testing are covered as well as the tests themselves.
Unless the medical genomics community starts developing a systematic, evidence-based approach to incorporating genetics and genomics into the standard of care, disparities will get worse before they get better, a workshop participant said. An ad hoc activity of the Roundtable, the Genomics and Population Health Action Collaborative, has been working to get public health and health care systems to interface and begin implementing the Centers for Disease Control and Prevention’s Tier One genomic applications, such as screening for Lynch syndrome, HBOC, and familial hypercholesterolemia, which together affect 1 to 2 percent of the U.S. population.5 While implementing that on a population-wide scale at this time might be premature, work could be done on an implementation strategy using evidence-based recommendations, the participant said.
What, the workshop participant asked, is the role of partnerships between health care systems and public health in the effort to use evidence-
5 For more information on the Genomics and Population Health Action Collaborative, see http://nationalacademies.org/hmd/Activities/Research/GenomicBasedResearch/Innovation-Collaboratives/Genomics-and-Population-Health.aspx (accessed November 2, 2018).
based implementation to achieve health benefits from genomic medicine at the population level without increasing disparities? Where such partnerships could be valuable, Tuckson said, is when genetic testing starts identifying relationships between genetic profiles, disease risk, and the environment in which people live. Such relationships would create a new level of urgency in talking about prevention, lifestyle change, and community environment and would provide an incentive for engaging with community-based public health.
Research networks have the opportunity to work across communities and recruit families that are not located in the same place to participate in studies, Anderson said. This can be an opportunity for improving access for families who may otherwise be unable to access these interventions. Taylor agreed that the field would benefit by expanding partnerships across the United States through multidisciplinary teams that include community-based organizations and community health workers.
Genetics Workforce and Training
Given the decreasing cost of genome sequencing and the rise in direct-to-consumer testing, an additional challenge in reducing health care disparities in genomics may be workforce and training issues. The Roundtable could look at how to return results to patients through mechanisms other than via direct one-on-one encounters with genetic counselors, Skaar said. Research programs like All of Us will produce more data to return, creating potential challenges for genetic counselors and clinicians.6 A workshop participant asked how people should be thinking about ways to increase the genetic counselor and geneticist workforce as well as the diversity of that workforce. While more diversity is important in these communities, Brawley said, ultimately it will be more important to have people who care about the populations they are serving. As genetic counseling becomes more widely known as a profession in the community, there will naturally be additional opportunities for attracting talent, he added. It may be useful to talk to people at the Department of Education, given that genetics and genetic counseling will be a growth field in terms of employment, Tuckson said, and it could be valuable to get that department involved in promoting this field to underrepresented populations as a career opportunity.
6 For more information about the return of individual-specific research results generated in research laboratories, see the 2018 National Academies of Sciences, Engineering, and Medicine’s consensus study report Returning Individual Research Results to Participants. See http://nationalacademies.org/hmd/Reports/2018/returning-individual-research-results-to-participants.aspx (accessed August 29, 2018).
Offering some final thoughts for the day, Wicklund and Bonham highlighted several of the important themes that arose throughout the workshop, including the perception of genetics within communities and the challenges that remain in educating, communicating, and building trust within communities. Recognizing that genomics is being integrated into an already constrained system, they challenged the field to be cognizant of the fact that new technologies can increase rather than reduce health care disparities. One potential opportunity could be to develop demonstration projects within institutions to show that genomics can add value, they said, referring to the efforts and programs of Anderson, Armstrong, Malani, and others who spoke at the workshop.
“It is not acceptable that we are not delivering [care] to patients equitably across our communities,” Armstrong said. “We need to make sure that we have tools that are effective in different groups. . . . I couldn’t be more enthusiastic about the genomics community’s commitment to increasing the diversity of individuals in genomics research [and] to developing tools that actually reflect the populations we serve.”