NEW YORK – People who have traditionally been excluded from genomics studies and have difficulties accessing medical advances were skeptical when researchers touted the benefits of precision medicine, according to a report published Thursday in Human Genetics and Genomics Advances.
Within 16 focus groups involving 100 participants, UK researchers, including those from the Wellcome Connecting Science and the University of Cambridge, found that when they talked up the benefits of genomics research without acknowledging limitations and historical injustices, individuals from underserved and minority communities didn’t react well.
“The study had really some surprising results,” said Anna Middleton, director of the Kavli Centre for Ethics, Science, and the Public at the University of Cambridge and the lead author of the Human Genetics and Genomics Advances study. “Scientists and clinicians have a collective enthusiasm to talk positively and optimistically about genetics, but by only leading conversations in this way, we may inadvertently be putting people off.”
This misalignment between what researchers say about genomics and what people hear, could inadvertently stymie efforts to diversify research to develop precision medicines, for example, against cancer, where many of the latest treatment advances have occurred in recent years. Absent minority participation in genomics research, the drugs developed will continue to be designed to treat diseases as they manifest in wealthy, white people of primarily European ancestry.
According to Middleton, the study findings have implications for all medicines advanced with the help of genetic technologies. “The words ‘DNA,’ ‘genetics,’ and ‘genomics’ are triggering words that, for some people, conjure up images of discrimination and injustice,” she said. “An acknowledgment of this goes a long way to demonstrate that scientists and clinicians are empathetic and aware that genetic technology, and precision oncology, exists within the context of society.”
Middleton and colleagues recruited 100 participants into three groups comprising people who self-identified as Black African, Black Caribbean, and Pakistani, and a fourth group including people of various ethnicities who had lower income levels and held jobs associated with socioeconomic disadvantages. When researchers used various phrases to describe genomics, the participants could provide their positive or negative gut reactions using numeric dials and more detailed verbal responses.
When participants heard researchers discuss the benefits of genomic research — be it the personal health benefits or the collective benefit to science and the population — most reacted negatively. One participant who self-identified as Black African felt vague language about the benefits of participating in research came off more like a “sales pitch.”
For instance, one phrase the researchers tested read: “For this research to help everybody, it needs to represent everybody. And that means it needs to include everybody. People from all backgrounds, ethnicities, and walks of life. Opting in means more than just saying ‘yes’ to research. It means saying, ‘yes’ to an equal health care system for all.”
Although this framing underscores the very reason why it’s vital to include minority patient populations in genomics, participants didn’t react positively, in part because the framing failed to acknowledge past injustices or offer any concrete reason for participants to trust these injustices wouldn’t be repeated. “We’ve been used as lab rats. We’ve been used as test dummies. So, that’s why we are reluctant,” one participant said upon hearing this statement.
Instead of leading with the promise of genomics, Middleton said participants had a more positive reaction when researchers began by acknowledging past injustices against Henrietta Lacks or to the infamous Tuskegee Syphilis study, and validated that people’s skepticism is warranted. “An acknowledgment of this goes a long way to demonstrate that scientists and clinicians are empathetic and aware that genetic technology, and precision oncology, exists within the context of society,” she said.
For instance, one tested phrase that participants said made them feel “a bit more seen” read: “We know that a lot of people have questions — and even concerns — about giving permission for their genes to be used in research. And studies have shown that, in general, concerns among ethnic minorities can be even greater. And there are real reasons for this. Some are connected to personal experiences and some to historical injustice. These concerns are real.”
Breaking the cycle
Although much has been written, studied, and publicly acknowledged about the need to diversify genomics research to ensure precision medicine benefits all people, not just the wealthy and white, Middleton and colleagues saw a gap when it came to concrete research into how best to communicate this to the people whom researchers desperately need to participate. Especially after the pandemic, governments became more willing to acknowledge longstanding inequities in healthcare access and research and drugmakers promised to try harder to make studies more inclusive.
“We knew there were policy calls for culturally and linguistically appropriate engagement campaigns, but very limited evidence-based methods for delivering these,” Middleton said. “We were also aware that the way we talk about genetics collectively is something that we all just ‘do,’ without much thought about how this is received. We don’t know until we ask people.”
Many people encounter genomics for the first time when they’ve already received a cancer diagnosis, or when discussing treatment options for themselves or a loved one. In these contexts, Middleton said genomics isn’t truly internalized for its intrinsic benefits so much as a part of managing health and disease. But to truly move the needle on diversifying research, the broader conversation surrounding genomics needs to shift outside of the doctor’s office, too.
“When people are at home with their families and friends, they are interacting with broader public audiences who may be completely unfamiliar with what cancer genomics can offer,” she said. “We know that across society, most people are totally unfamiliar with what the word ‘genomics’ means, or what genomic technology can offer, so it’s important to meet people where they are at if we want that conversation to be meaningful.”
The latest study findings could be useful for guiding biomarker-driven drug development, too, she said. Clinical trials that incorporate biomarker testing rely on participants’ willingness to share their genomic information with a medical community that they might not fully trust, or that they actively distrust. If people from a certain underserved group aren’t open to sharing their genomic information with scientists, they won’t participate in trials that seek to understand which patients drugs work best in, and the latest treatment advances will continue to serve only the homogenous populations enrolled.
Middleton acknowledged the cyclical nature of this problem, but suggested the cycle could be broken “by gently lifting awareness of what genomics is in mainstream society,” she said. “This means genuine investment in social sciences and communications research that seeks the evidence base for scaling up conversations across the whole of society.”
Toward evidence-based language
Heading into the study, Middleton said she and her colleagues realized that, in contrast to the many guidelines available for treating patients’ unique cancers, there aren’t universally accepted or evidence-based approaches for “introducing genomics to audiences who are not specifically seeking out information.”
“All of medicine is guided by evidence of what works, and this should equally apply to communication about medicine,” she said. “We shouldn’t just guess how our language is received by patients and public audiences. We should ask patients and public audiences what treatments, care plans, and research mean to them.”
In light of this, Middleton suggested that her team’s findings could be incorporated into any patient-facing materials, including informational leaflets and websites. In an ideal world, genetic counselors, who are trained to explain genetic test results and inherited disease risks to patients and families from different backgrounds, would be broadly available. “But with only 7,000 genetic counselors worldwide, they are in short supply,” Middleton recognized. Incorporating evidence-based language that meets people where they are should be a priority across the healthcare and research ecosystem, and doesn’t require specific skill sets, she added.
Although Middleton and her colleagues conducted their study in groups recruited within the UK, the team plans to perform similar research in other countries. “Our hypothesis is that the findings will translate to other contexts,” she said.