The Risks of Knowing Your Risk
When conveying genetic risk results, clinicians should consider the outliers
Data & Society’s Fairness in Precision Medicine project releases an expansive new report on Monday, February 26. As a prelude, this post by report co-author Mikaela Pitcan analyzes the emergent trend of feeding genetic risk information directly to consumers.
In April 2017, the FDA announced that it would allow 23andMe to sell genetic tests for disease risk directly to consumers — raising concerns about the way consumers might misperceive genetic risk information, especially since they are not required to speak with a genetic counselor or physician about the results. For some time now, scientific literature has discussed the impacts of consumers receiving results directly like those by 23andMe, and the popular press is catching up. As a researcher and counselor, I ask: What are the impacts of receiving information like this, as genetic risk and other health data become more widely available to individuals directly? How can clinical support help us to handle genetic risk information? As reports of these experiences become more and more visible in the public conversation, we must consider how the increasing availability of health data can empower, as well as cause harm.
In March 2017, Jessica Furseth wrote a Buzzfeed article discussing her experience of completing genetic testing that revealed she was at heightened risk of developing colon cancer in her lifetime. The information was supposed to empower her, but instead she was gripped by fear and anxiety. Furseth described how she delayed completing the testing, and her struggle to integrate this new information into her life throughout the following year. She was pulled back and forth between knowing that she was not currently sick, and the sense of fragility brought on from knowing she was at risk of one day, maybe, getting sick. She felt as though her body was not under her control.
For Furseth, one biomaterial sample and a laboratory test marked the point at which her sense of security and control over her life became tenuous. Knowing more information about your body is supposed to be good. One of the goals of precision medicine is to empower people with individualized health information. But what if precision medicine leads to negative psychological outcomes, including worry, loss of control, or worse? If you internalize increased risk as an indication that you cannot trust your body — yourself — it can shake your emotional foundation.
The phrase “ignorance is bliss” is antithetical to health promotion efforts as we know them in the United States. Subway advertisements, public health flyers, healthcare providers, and patient advocates extol the public to “know your status,” “get tested,” and “be aware.” Precision medicine moves the push for awareness from knowing the answer to questions about your current status (“Do I have ovarian cancer?”) to knowing your future risk status (“Based on an analysis of my genetic variants and lifestyle, how likely am I to one day develop ovarian cancer?”). With this information, the patient is armed with knowledge that they can then use to inform behavioral change to buffer against their inherited risk. “It’s one of these medical interventions that’s not actually about quality of life at all. It’s about quantity of life,” says Dr. Philip Woodland, as quoted by Furseth.
But what is the impact of being told you have, say, a 20% versus 80% likelihood of developing disease?
In theory, if I know I’m susceptible to developing type II diabetes, I can change my diet, get regular screenings, and make other lifestyle choices that will protect against developing the disease. But what is the impact of being told you have, say, a 20% versus 80% likelihood of developing disease? Choices about the analyses conducted and data deemed valuable stem from the value that some person, or some group of people holds. In this case, that value seems to be “knowledge is power.” This assumption is based on a frame of reference in which knowledge leads to action rather than an increased feeling of vulnerability. What determines whether someone engages in preventative care (empowered) or goes into despair (disempowered, experiencing a removal of feelings of control)? Is the impact influenced by the way that results are delivered, or based on one’s individual traits?
Ethical debate about the right not to know (RNTK) one’s genetic status has been ongoing in medical research and clinical communities. At ELSICON 2017, Benjamin Berkman presented an argument against RNTK. He said that conversations must shift from binary framing to a nuanced and contextual understanding. He encouraged the analysis of harms and benefits of honoring or ignoring the RNTK. Berkman argued that a minority of people who would not want to know (such as the elderly, or people with terminal illness) should not steer policy decisions, and that evidence of both psychological and economic harms was inadequate in providing reason not to share genetic risk information. Finally, he argued that asking patient preference was not best practice due to difficulty understanding consent forms, the complexity and difficulty of understanding genomic information, and evidence of shifting patient preference over time.
A whole body of literature is dedicated to best practices for delivery of genetic results and the impact of these procedures for direct-to-consumer genetic testing. Direct-to-consumer genetic testing or at home genetic testing allows people to access their genetic information without needing to involve a doctor or insurance company. According to the authors of a 2015 Commentary: Living at Risk: Factors That Affect the Experience of Direct-to-Consumer Genetic Testing published by the Mayo Clinic, data from published literature does not adequately represent the nature of direct-to-consumer genetic testing’s effect on consumers: “Individuals find that they are asked to directly manage the available information without necessarily understanding its real meaning.” They argue that rather than a one-size-fits-all approach, the return of genetic testing results should be tailored, taking into account individual traits that impact decision-making and future behavior.
…Tailoring on multiple risk factors could magnify the sense of vulnerability patients experience when presented with unfavorable health information, which might lead to resistance or alienation.
The Mayo Clinic’s commentary noted the potential for feeling helpless, misinterpreting the results, and “living at risk.” I turned to research on the perception of risk and its impact on emotions and behavior. I found that besides the acute anxiety felt when awaiting test results, in general, research shows that there is not a significant link between genetic test results and emotional distress — meaning that for most people, there is not a significant negative impact on emotional wellbeing. However, one of the issues that precision medicine is intended to address is accurate and effective treatment of those who do not fall within the “norm.” Quantitative research provides information about the average, but within each study there are people who do not fall within one standard deviation of the mean — the outliers. In this vein, I wonder about the individuals for whom this general trend does not apply.
I spoke to Chelsea Ratcliff, a summer Cancer Research Training Award Fellow at the National Cancer Institute and doctoral student in communication at University of Utah. Ratcliff is in the process of publishing a paper on potential challenges for communicating with patients in precision medicine, along with her co-authors Kimberly Kaphingst and Jakob Jensen. Using the frame of “privacy and autonomy” and psychological reactance theory, Ratcliff argues that personalization could elicit perceived threats to freedom, especially when data has been amalgamated without a patient’s awareness. Adding to this, tailoring on multiple risk factors could magnify the sense of vulnerability patients experience when presented with unfavorable health information, which might lead to resistance or alienation.
She supported her argument with insights from personalized advertising research that revealed that highly tailored messages were viewed as intrusive and that their perceived persuasive intent led to feelings of vulnerability in viewers of the advertisements. According to Ratcliff, patient reactions could be influenced by who the communication comes from, how it is delivered, and whether the patient has the option to exercise preferences about it.
There are potential routes to achieving the Mayo Clinic’s recommendation to consider psychological factors and dynamics that influence the way patients integrate and react to the results that show they are at risk for developing a disease. The delivery of results takes place in a dyad consisting of two groups of actors — a healthcare professional or team of healthcare providers and the patient. Genetic counselors have been integral in the process of delivering genetic results. They are responsible for advising patients about the consequences and nature of the disorder, the probability of developing or transmitting it, and discussing options for disease management and family planning. The National Society of Genetic Counselors Code of Ethics states that members of the profession must “Respect their clients’ beliefs, inclinations, circumstances, feelings, family relationships and cultural traditions.”
As genetic risk and other health data become more widely available, insights from research and early clinical adoption will expand the growing and data-centric field of precision medicine. However, just like previous forms of medical intervention, precision medicine aims to enhance life, decrease risk of disease, improve treatment, and though data plays a big role, the success of the field depends heavily upon clinician and patient interactions. Thinking about how to enhance this human interaction brings us back to the basic question every helping professional asks themselves:
How can I best be there for this person in their time of need?
Here are some points for both researchers and health care organizations to consider as individual genetic risk information becomes more widely available:
Future research should:
- Identify differences between individuals who do not experience distress and those who do to identify factors that increase risk for distress. For example, does a history of anxiety or depression make patients vulnerable to negative emotional impact? Do external stressors, such as financial strain, increase the likelihood of experiencing significant distress?
- Identify traits of healthcare professionals, such as methods of delivery, that impact the reception of results.
With regard to healthcare settings:
- Genetic counselors are first in line to deliver genetic results and have extensive training in interpreting and discussing the nature and impact of genetic results with patients. Two core skills of genetic counselors are the ability to communicate complex information in a simple way and to have strong interpersonal skills. However, the number of genetic counselors does not match the increased demand and patients might face difficulty finding professionals to interpret and deliver the results of genetic testing. As educational programs work to fill this gap, healthcare providers can work to develop solutions to increase resources for patients.
- Healthcare institutions should incorporate findings from research on delivery of results into training residents and other trainees in healthcare settings and identify difficulties occurring in these interactions in practice to inform future research questions.
Mikaela Pitcan is a Researcher at Data & Society, where she examines the challenges of big data analysis in healthcare research and implementation. She holds a BS in psychology from the University of Florida and a MS.Ed in Mental Health Counseling from Fordham University Graduate School of Education. She is currently a doctoral candidate in Counseling Psychology at Fordham University, where she researches the influence of automated decision-making aids on discriminatory decision-making.
