- Precision medicine is an emerging approach to disease treatment and prevention that takes into account each person's genes, environment, and lifestyle. The ideas behind precision medicine are not new, but the development of big data analytics, biobanking, new methods for categorizing and representing patients, and computational tools for analyzing large datasets have provided opportunities for more widespread use.
Precision medicine promises to increase patient-centered care, personalized patient-provider relationships, and treatments targeted to individual concerns and needs. However, such advantages come with certain ethical, legal and social controversies.
New research methods intrinsic to the Precision Medicine Initiative have the potential to create uncertainty for both professionals and patients, leading to a number of challenges, according to a new study published by the Journal of the American Informatics Association (JAMIA).
Patient data privacy
Open databases and full disclosure of research data are necessary in order to ensure that investigators can translate precision medicine research into clinical care. However, these raise the issue of privacy – specifically, and the potential for data breaches.
Inherent to the success of the Obama Administration's Precision Medicine Initiative (PMI) is the acquisition and sharing of large data sets, as well as protecting it. “Our greatest asset in PMI is the data that participants contribute, and we want to make sure participants know that their data is protected," wrote Health and Human Services Secretary Sylvia Burwell and Assistant to the President for Homeland Security and Counterterrorism Lisa Monaco, upon the release of the PMI Security Framework.
Despite the fact that PMI architects have a privacy and security plan in place, patients remain deeply concerned about how their volunteered data will be used, shared, and protected.
“The key privacy concerns raised by the PMI are the lack of applicable law to govern its collection and use of individuals’ health data, the potential waiver of the patient-physician legal privilege that can shield data from disclosure through litigation, and the possibility of law enforcement access to patient records held in the PMI,” The World Privacy Forum explained. “Before it launches, the PMI needs to clarify the legal and administrative privacy protections that apply to its activities.”
A recent survey conducted by the National Institutes of Health showed that nearly 80 percent of the 2601 patients responding to the poll supported the idea of the Precision Medicine Initiative Cohort's goal of compiling a million-patient biobank. Fifty-four percent of those surveyed said that they were likely to contribute their genetic, clinical and environmental data if asked to do so.
But those who were unwilling to participate cited concerns about how their data will be secured, and respondents to the survey expressed different levels of confidence about who would use their data appropriately.
“When asked about allowing different categories of researchers to use their samples and information, people were most likely to say they would share with researchers at the NIH (79 percent) and US academic researchers (71 percent),” the study explained. “There was more reluctance to share with pharmaceutical or drug company researchers (52 percent) or other government researchers (44 percent).”
Given the discrepancy between who patients feel comfortable sharing their information with, providers need to be sensitive to varying patient privacy preferences. Educating patients about where their data will be used, and what security measures are being taken to protect the data will be an important part in securing participation.
As precision medicine initiatives evolve, there is a growing emphasis on patient engagement. "In some environments," the study states, "there is an implicit assumption that patients not only should, but will, be placed in the driver's seat of precision medicine activities – and that they will be happy to be there."
According to the NIH survey, respondents wanted to have decision-making power. Seventy-six percent said that participants and researchers should be "equal partners" in the precision medicine study, while as much as two-thirds of respondents said that participants should be involved during the project.
However, according to a survey conducted for Memorial Sloan Kettering Cancer Center, despite the potential benefits of precision medicine, only 40 percent of survey participants viewed clinical trials favorably. And only 35 percent of patients said they were likely to enroll in a clinical trial.
A majority of physicians, according to the survey, were also wary of the potential for clinical trials to make their patients feel like test subjects, rather than equal partners in the process; moreover, only 28 percent of physicians surveyed considered clinical trials a last resort for treatment, and just a third considered the possibility of participating in a research program while starting a treatment plan.
The problem with this mindset, said Paul Sabbatini, MD, Deputy Physician-in-Chief for Clinical Research at Memorial Sloan Kettering, is that patients who may benefit from such therapies may be shortchanged. “When faced with cancer, patients want to know they have multiple options available to them, and this includes clinical trials,” he said.
“Failing to consider clinical trials at every stage of cancer diagnosis and treatment can represent a significant missed opportunity, primarily for patients, as well as for doctors and researchers trying to develop better therapies.”
Ensuring equal access to healthcare
Even as precision medicine becomes more of a fixture in healthcare, there is no indication that current disparities in treatment access and outcomes will go away. Treatment and outcomes disparities continue to be reported across gender, ethnicity, socioeconomic status, education background, disability status, sexual orientation, and other patient characteristics, the article notes.
The Centers for Population Health and Health Disparities identifies precision medicine as an opportunity to eliminate disparities and achieve impartial treatment. “Bridging knowledge gaps in achieving health care equity requires understanding how quality improvement and patient-centeredness can inform equity initiatives and how to enhance communication and cultural competency among health professionals to reduce the impact of bias and stereotyping," the directors stated in a joint statement.
"We also needed to assess when tailored interventions are indicated versus a one-size-fits-all approach and strengthen linkages between healthcare systems and community resources… Our collective research and experience suggest that the addition of knowledge of genetic risk to the development of clinical and public health tools will maximize the potential to reduce health and healthcare inequities and to inform practice and policy to minimize the potential risks of population-based genomic investigations."
Should more and more patients seek precision medicine-based approaches equity could become an even greater problem than it already is, however. According to the JAMIA study, patients with higher levels of education, those receive treatment at academic medical centers, are wealthier or have more comprehensive health insurance, or are more socially connected may have more opportunities to take advantage of experimental treatments. Less educated, wealthy and connected patients, meanwhile, may not have such opportunities.
Managing patient expectations
Participation in biobanking projects or large-scale investigations does not always translate into direct clinical insights that can prevent the development of a disease or change the course of care. Precision medicine is still in its early phases, and research projects are still exploring the possibilities of personalized care.
Managing a participant's expectations when the contribute a blood sample or clinical history will be very important for ensuring continued commitment to the lengthy process of medical research.
“When the genome was first sequenced, there was a great hope that it was going to give us laser-like precision to understand a wide array of problems,” said David Delaney, MD, Chief Medical Officer of SAP. “The thought was that we would be able to sort people into buckets based on the absence or presence of a gene or mutation. But the challenge, of course, is so much more complex than that.”
“There are so many factors that will cause expression or non-expression of a gene. And when you add in factors around a patient’s environment, it turns out that there are so many different pieces to this. The hope right now is that once we get more of the puzzle pieces out there, we will be able to start making the links that will eventually lead to major breakthroughs in things like cancer.”
As the precision medicine ecosystem unfolds, researchers and clinicians may be able to bridge the gap between studies and direct treatment applications, but the healthcare industry will have to overcome many other challenges, as well. Managing patient data in a private but transparent manner, as well as ensuring that patients have equal access to breakthrough advances, will be critical steps along the journey to truly personalized care.