Precision public health

That breakthrough, however, has not been translated as widely or as meaningfully from the individual to the population level. “There has been a massive amount of research around genomic discovery, figuring out which genes are associated with which diseases and how that knowledge can be used in a clinical setting,” says Yue Guan, assistant professor of behavioral, social, and health education sciences (BSHES). “But, as a rule, we really haven’t figured out how to apply these discoveries in public health.”

The Emory Precision Public Health Research program is working to change that. Established in 2016, the program engages in research to identify effective interventions that capitalize on emerging genomic information with the goal of promoting population health and reducing health disparities. “We are trying to take the discovery research to the next step, asking how might we broadly apply this information at the population level to have a positive impact on public health,” says Colleen McBride, professor of BSHES, who co-directs the program with Guan. “For example, family history assessments can identify those at highest risk, but also those who are not at high risk—thus potentially enabling us to use our limited public health resources with greater population benefit. Yet, this potential raises a number of important implementation challenges that also are important to test.”

McBride served as founding chief and senior investigator of the Social and Behavioral Research Branch of the National Human Genome Research Institute of the National Institutes of Health, where she pioneered interdisciplinary research merging social and behavioral sciences with genetics. She joined Rollins in 2014 as the Grace Crum Rollins Chair of Behavioral, Social, and Health Education Sciences, a post she left in December.

McBride and Guan have assembled a group of like-minded researchers who are looking for ways to apply genomic discoveries in broad, population-based settings. Here’s a look at a couple of projects.

Citizen jury

One area where the ties between genetics and disease are strong is breast and ovarian cancer. Women of African ancestry, for example, are more likely to develop and die from aggressive breast cancers than women from other ancestry groups (with the exception of women of Ashkenazi Jewish ancestry). That would make this group ideal candidates for more aggressive screening than the general population.

However, study after study has shown African American women are less likely to be referred for genetic testing and counseling than their White counterparts, and if they are referred, they are less likely to complete it. Why? Blacks are often mistrustful of the medical system, reflecting centuries of mistreatment, such as the infamous Tuskegee experiment. Blacks are historically underrepresented in genetic studies and clinical trials, so the interventions and treatments being offered may or may not be as effective for them as their White counterparts. And Blacks often have less access to health care, insurance, and all the things you need to take advantage of genetic counseling—particularly those living in rural and isolated settings.

Against this backdrop, Guan and McBride posed the question—how can you increase the uptake of genetic information among a marginalized community? They decided to test an intervention that relies heavily on community involvement to assess the feasibility of offering accelerated breast and ovarian cancer screening for women of African ancestry in southwest Georgia. The intervention relied on recruiting a citizen jury to engage in a process of democratic deliberation. This approach has been used in the health policy field in other countries but has not been tried in genomic research and translation interventions.

Modeled after juries in the criminal justice system, a citizen jury brings together a small number of people from diverse backgrounds to deliberate an issue. The jurors are not experts in the field being discussed. Instead they bring their life experiences and cultural viewpoints to the table. The jurors are then presented with unbiased information provided by experts on the topic at hand, and skilled facilitators guide them through deliberations on the trade-offs of various options. The goal is to digest and understand the complex information presented, cast it within the context of the situations in which they live, and emerge with recommendations that go beyond their personal interests to reflect a societal perspective or a common good.

“Getting meaningful public engagement is critical when you are dealing with complex health topics, where setting health priorities requires balancing multiple tradeoffs,” says McBride. “Most efforts to get public engagement have focused on more superficial methods—focus groups or structured interviews, where participants are limited by their depth of knowledge about a subject. We wanted to see if we could use the citizen jury approach to get more meaningful, deliberative, and even collaborative community input to evaluate the pros and cons from a societal perspective of targeting women of African ancestry for more aggressive breast cancer screenings.”

Partnering with Horizons Community Solutions in southwest Georgia, McBride and Guan recruited 24 people of African ancestry of different ages, genders, and walks of life. The jurors were presented with two days of expert testimony via videotaped presentations (due to the COVID-19 pandemic), which covered topics such as: What is hereditary breast and ovarian cancer (HBOC)? Why is it important and how are people at risk for HBOC identified? What is the current HBOC screening program in Georgia? The participants were guided through deliberations weighing differing, and often competing, social values to consider the myriad trade-offs involved in targeting Black women for screenings.

The citizen jury approach lived up to its promise. The jury paid attention and asked questions to make sure they truly understood the topics being presented. They were able to adopt a societal lens rather than considering their own interest. And when asked to explain their viewpoints, they justified them with accurate factual information from the testimony.

In the end, the jury generated a diverse, thoughtful slate of pros and cons for targeting women of African ancestry. When McBride and Guan shared the results with state-level cancer policy stakeholders, they complimented the perspectives generated, saying they could use this type of community input when developing policies and programs in the future. “And that’s the whole point,” says McBride. “By embedding citizens from marginalized communities in the process and baking their perspectives into the deliberations, you increase the chance that whatever program or policy you end up with will actually be relevant, successful, and acceptable.”

Citizen scientists

Ovarian cancer is rare, deadly, and heritable. With about 20 percent of ovarian cancers being genetic, it’s critical for first-degree relatives—siblings, children, and parents—of women with ovarian cancer to be informed of their elevated risk so they can get genetic testing and counseling. However, current standard of care leaves that task up to the discretion of the cancer patient, and that means it often does not happen.

Guan and McBride wanted to see if they could engage survivors of ovarian cancer as citizen scientists. The goal was to collaborate in fashioning an online intervention that could entice and assist other survivors to contact their first- and second-degree relatives. They envisioned a website that would offer education around the heritability of ovarian cancer, the importance of informing close relatives, and tips for doing just that.

They also needed to develop materials to direct people to that website. The team recruited 14 participants, many of whom were connected with larger ovarian cancer communities such as support groups and foundations. Those connections gave this small group access to a much broader, national patient population.

These citizen scientists were trained—virtually, again thanks to COVID—in various data collection methods and coached on technical issues before reaching out to fellow ovarian cancer survivors within their groups for their input. The small team ended up collecting more than 200 surveys and conducting more than 40 structured interviews.

“The large online support groups are closed to anyone who is not an ovarian cancer survivor or loved one, so we could not have accessed women in these groups,” say Guan. “And even if we could, women would not have responded to us the way they did to a fellow survivor.”

Guan and Jingsong Zhao, a doctoral student in BSHES, mined all the data the citizen scientists collected in preparation for developing their intended website and support materials. They learned a lot. Participants relayed the challenges they faced related to talking to their family about their disease. As a result, Guan and her team developed tip sheets and offered different options for contacting relatives. The surveys also indicated a desire for a very positive focus. They also found out image issues that could challenge engagement of survivors. For example, pink is not the color to use to appeal to this group. “Ovarian cancer survivors feel overshadowed by all the national attention and funding that goes toward breast cancer,” says Guan. “So you won’t see any pink in this intervention. The website and printed pieces are all teal, so it’s clear that this is specific for ovarian cancer communities.”

All along the way, the team worked with the citizen scientists. “They gave us feedback on the website; they did usability testing,” says Guan. “They weighed in on almost all aspects of format and content,” Guan and McBride have now moved on to the next phase of the study—testing the website and materials they developed with the help of the citizen scientists to see if they do, in fact, prompt ovarian cancer survivors to contact first-degree relatives. “We are in the early stages of this phase of the study, but we have shown you can get a large amount of quality data in a short amount of time with the citizen scientist approach,” says Guan. “In fact, our whole program is still very young, but we are starting a lot of new exciting research initiatives.”