NEW YORK (GenomeWeb) – Despite the rapid expansion of the genetic testing industry, more consumers ordering genetic testing online, and the growing list of molecularly informed personalized treatments, genetics and personalized medicine are not top of mind for the general public in the US.
An average of 14 new genetic tests are launched on the market each day, and by the end of 2017, the number of consumers who purchased genetic testing online to learn their ancestry or genetic risks for diseases more than doubled to 12 million. Meanwhile, the US Food and Drug Administration last year approved a record 16 new personalized drugs.
However, even though people have greater access to personalized drugs and testing than ever before, a survey by GenomeWeb and the Personalized Medicine Coalition released today shows that personalized medicine and genetics are not topics that spring to most people's minds when they think of the latest advances in healthcare. Importantly, awareness of personalized medicine is still low within the general public and not necessarily improving.
In the online survey, 1,001 adults representative of the US population were asked initially to name advances they thought had the potential to positively change healthcare. Around one-third mentioned advances in treatments for diseases like cancer or stem cell research, but only around 16 percent mentioned innovations in technology or diagnostics.
Three percent mentioned genetics and two percent thought of DNA testing, but less than one percent (three people) brought up personalized medicine on their own. Comparatively, when PMC did a similar survey in 2014, 1 percent of respondents had specifically mentioned either individualized or personalized medicine on their own, and 4 percent noted genetic research or therapy as among the most exciting medical advances.
Respondents in the latest survey were more likely to recognize these terms with a little help. When given a list of healthcare terms and asked if they had heard or read something about them, 29 percent noted familiarity with personalized medicine, 15 percent indicated they had heard of precision medicine, and 24 percent said they had heard of individualized medicine. In comparison, 38 percent of respondents had said they'd heard of personalized medicine in 2014.
"Personalized medicine has always anticipated an era in which patients can ask the question, 'Is this treatment right for me?' The fact that most Americans are still not aware of that question's medical significance suggests that educational efforts in the field are as important now as they ever were," said PMC President Ed Abrahams.
Part of the problem may be that there are so many ways of describing the concept of treating a person based on genetic or other biomarker information. "This is an example of wanting to use the right words, but not necessarily using the rights words with the people we're really trying to educate and inform," said Erica Ramos, president of the National Society of Genetic Counselors.
Since President Barack Obama launched the Precision Medicine Initiative (PMI) in 2015, the field has been divided over which term to use — the familiar personalized medicine or the more incisive sounding precision medicine. "Everyone has their own tweak on what those things are, but the reality is the things we [inside the field] are differentiating are not the things people in the broader community are thinking about," Ramos said. "It can get very confusing, and it would be helpful to settle on some definitions of what these things mean so we can communicate the right message to the general population."
Stephanie Devaney, deputy director of the All of Us Research Program — within which the PMI is attempting to enroll 1 million Americans who will donate their medical, environmental, and genomics data to advance research into precision medicine — isn't surprised that more people haven't heard of it. "While 'precision medicine' has become a buzzword in certain healthcare and research circles, we're still a long way from being able to deliver precision medicine approaches across all diseases and for all people," Devaney said.
In engaging with different community groups, however, the All of Us Research Program has found that while people may not necessarily know the terms "personalized medicine" or "precision medicine," what they do grasp pretty well is that people are all different and have different health needs. "What really matters is that people understand why we need research and what efforts like All of Us aim to do," Devaney said. "The terms we use matter less than the outcomes that result from our national focus on this area of science."
In the GenomeWeb/PMC survey, less than 10 percent said they had heard of the All of Us Research Program or the Precision Medicine Initiative, which may be because until recently the project has been quietly testing out its enrollment capabilities in beta phase.
All of Us began enrolling participants around the country just this month, with the goal that between 70 percent and 75 percent of the million-participant cohort will be from underrepresented groups. Devaney hopes that the All of Us national campaign online and through different community events will move the needle in public awareness and reach groups that have been excluded from research in the past.
For Devaney, the survey findings underscore the importance of the All of Us Research Program. "Researchers need more data to make the discoveries that will eventually make precision medicine a greater reality," she said. "When that happens, when precision medicine begins to benefit more people and their friends and family, I expect that we'll see more of a shift in public awareness."
Genomic advances have helped extend the lives of patients with devastating cancers and even cured patients with rare or undiagnosed genetic conditions, but those that suffer from common chronic conditions and many deadly illnesses remain unaided by personalized medicine. In the GenomeWeb/PMC survey, for example, only 10 percent said that their doctor had ever talked with them about or recommended a genetic test to diagnose a disease or guide treatment, and a similarly low proportion of people said they had been tested for these common purposes.
Despite the greater availability of genetic tests and personalized drugs, doctors may be waiting for more evidence demonstrating that certain approaches truly benefit patients, Ramos reflected. Insurers, meanwhile, are concerned that the genetic testing industry is growing too fast, and are particularly unconvinced that the broader application of next-generation sequencing helps patients except in very specific settings. Some large commercial payors last year even initiated prior authorization programs for all genetic tests to rein in inappropriate use.
Two-thirds of respondents in the survey agreed that insurance companies should cover personalized tests and treatments because they add more value to patients and control overall healthcare spending. The rest thought that insurers shouldn't be expected to pay since healthcare costs are already too high.
The dropping cost of genetic testing is generally expected to spur broader consumer uptake, and industry players have predicted the tipping point in this regard will be when the cost of whole-genome sequencing reaches $100. Although the survey showed that most people want to learn more about personalized medicine and generally have positive feelings about it when they know what it is, 30 percent of those surveyed said they are currently not willing to pay anything to get whole-genome sequencing.
Around one in four said they'd pay $50 or $100. When most people indicate they aren't willing to pay more than $100 out of pocket for whole-genome sequencing, to Ramos this highlights the importance of insurance coverage in driving adoption of new interventions. "We really need to focus our efforts on improving healthcare coverage not only for genetic testing, but also for genetic counseling," she said.
At the same time, more consumers are venturing outside of the traditional brick-and-mortar physicians' offices and avoiding having to battle insurers altogether by ordering at-home genetic tests online for a few hundred dollars. According to estimates from the International Society of Genetic Genealogy, customers of consumer genomics companies more than doubled last year to 12 million.
The GenomeWeb/PMC survey suggests, however, that consumer genomics is still in the early adoption phase, since 92 percent of respondents said they hadn't purchased an at-home genetic test to check for their risks for certain diseases.
23andMe recently conducted a survey that showed a lot of interest among Americans to learn their genetic risk for diseases, but only slightly more than half knew that genes contain DNA. "We have to acknowledge that the next phase of adopters might have different needs in terms of education and support to have a clear picture of what testing can and can't tell them," Ramos said. "If one of the publicized goals of at-home testing is to improve consumer access, then we need to make sure we're thinking about better ways to communicate with those individuals."
Meanwhile, 7 in 10 Americans in 23andMe's survey knew that humans have 23 pairs of chromosomes, an improvement over the prior year that may point to greater brand awareness for 23andMe rather than improved scientific understanding. Over the past year, 23andMe has certainly upped its marketing and brand recognition efforts via partnerships with a movie, Despicable Me 3, and Fox Sports around FIFA World Cup. The company even put out a mock ad on April Fool's day with Lexus.
While the genetic testing industry is working to increase the public's brand awareness, the GenomeWeb/PMC survey suggests that a majority haven't given much thought to how the emerging field of genetics and personalized medicine might impact their lives. More than half of those surveyed did not express any worries about personalized medicine in 2018 compared to three-fourths of the respondents in 2014.
Still, notably, more people this year expressed concerns, like maintaining their privacy, compared to 2014 — perhaps a sign of a politically tumultuous year filled with reports highlighting how vulnerable personal data and communications are.
Of the 44 percent who mentioned some concerns in the latest survey, 12 percent noted side effects of the drugs, 8 percent said treatment effectiveness, 8 percent said cost or coverage, and 7 percent mentioned privacy. Back in 2014, among the 26 percent who mentioned something of concern, side effects, costs, and efficacy were top mentions, but only 3 percent had privacy concerns.
When it comes to privacy laws, however, only 1 in 10 respondents in the latest survey said they were aware of the Genetic Information Nondiscrimination Act of 2008, which restricts health insurers and employers from using genetic information to make coverage or employment decisions. After learning about the protections the law provides, less than one-third said it made them more comfortable with genetic testing, 10 percent said it made them less comfortable, and for 43 percent, it made no difference.
The information given to respondents didn't explain that the law doesn't provide similar protections in the area of disability insurance, long-term care, and life insurance, which may have impacted people's reactions. Another study conducted a few years ago, involving 1,500 people, found 79 percent of respondents didn't know of GINA, and those who said they did had significant misperceptions about it. Moreover, after reading about GINA, 30 percent said they were more concerned about discrimination than before.
"The lack of awareness about genetic protections illustrates that we have important work cut out for us to reassure the public that sharing genetic data is in the public and personal interest," Abrahams said.
The All of Us Research program will collect DNA and other data from participants, although genomic analysis of patient samples hasn't begun yet. The program intends to launch pilot studies to assess the feasibility of performing genotyping and whole-genome sequencing on all participants, and returning certain results.
When these efforts begin, Devaney anticipates more questions from the public. "We'll certainly ensure that we provide information on GINA and other protections to our participants and the broader public," she said. "We plan to enlist genetic counseling services to help in addressing some participant questions."
Unfortunately, the survey results also indicated that 73 percent of respondents hadn't heard of genetic counseling, and only 4 percent said they had ever spoken to one.
NSGC is trying to raise awareness of genetic counseling through a consumer-facing website and is hosting webinars for consumers on topics like cancer risk and fertility. The society is also working on legislation so that genetic counselors are recognized by the Centers for Medicare & Medicaid Services as healthcare providers and can bill for services rendered to Medicare beneficiaries. This limitation, according to Ramos, is among the biggest barriers to people's ability to access genetic counselors.
"We know we need to break out of our little bubble," Ramos said. "We have to make genetic counseling a household word."