Patients Need a Voice in Shaping the Practice of Clinical Genomics

Dustin Holloway | 4 February 2013 | 3 responses

Whose voice is the master when it comes to determining how genetic data is defined and used in the clinic?

It’s 2019, and your cancer treatments have finally finished. Your doctor has proclaimed you cancer free, but the struggle was difficult. When you first had your genome sequenced, you received a report that showed no genetic variations of concern. But after your diagnosis with skin cancer, you decided to have your genome sequenced again through a private provider. Shockingly, the new report described a genetic mutation that suggested a 25% increased risk of skin cancer. Furious, you asked your doctor why this result wasn’t revealed in the earlier test. He explained that the genetic association with skin cancer was not fully studied, and the 25% increased risk was not, by itself, considered a “clinically actionable” result. Had you been aware of this possible risk sooner, perhaps you would have been more careful about using sunscreen… perhaps you would have inquired about your family’s history with cancer. Instead, the decisions made by the medical community about which information is ready for dissemination and which is not preempted any action on your part. Today, as DNA sequencing is just beginning to enter the clinic and before such situations become reality, is it time to rethink who controls the information in our genomes?

While doctors are largely embracing the diagnostic power of whole genome sequencing (WGS), they are rightly worried about how the responsibilities and liabilities of this technology will be apportioned. At the heart of the current debate is the definition of the term “clinically actionable.” A genetic sequence that reveals, for example, Duchenne muscular dystrophy is clinically actionable because doctors have medical interventions that help manage the illness. But if such medical steps are unavailable, then the test results may be classified as “incidental findings” and never reported to the patient. By the time you get your test results, established medical ontologies that categorize your data may have already decided what you should or shouldn’t know. Anti-regulation commentators have been quick to pounce on such apparent infringements on liberty in the past (1), and will be quick to suggest that doctors have too much power in deciding what information patients can access.

While it seems easy to put the blame on doctors, even they may not be aware of the incidental findings in your record. In fact, they may prefer not to be told, and there are reasonable arguments to support this type of filtering. The first is that that every genome will produce too much data for a doctor to process without it first being reduced and summarized by computers. More importantly, much of the data is unreliable. Imagine a result that suggests a 30% increased risk of Alzheimer’s Disease based on a published study of 100 Caucasian genomes. Without independent trials and validation it is impossible to know how diagnostic the result is in a larger population or whether it varies based on gender, environment, or racial background. Even if the result is sound, a hypothetical risk has no clinical recourse. In such cases doctors may be justified in setting the results aside as uninformative or even harmful. But if the patient is diagnosed with the disease later in life, the unreleased data may be a legal liability for doctors and data providers. So perhaps, as one line of reasoning goes, it would be best if the result was never created in the first place.

The field of science and technology studies places emphasis on understanding how communities are defined and how representations are made. Representation-making can change the flow of discourse and shift public thinking about new technologies. In the case of medical genomics, representing some mutations as actionable and others as irrelevant characterizes some patients as treatable and others as not. This may also affect whether patients receive basic information about their genome without regard for other non-clinical interests those patients may have. While some data are not clinically actionable to a doctor, they may still be useful to patients based on their perception of disease, their life context, and their individual psychology. Although knowledge of an uncertain Alzheimer’s risk won’t trigger treatment, it may be important in shedding light on family history or prompting health vigilance. As more information is generated by WGS, the practice of throwing away data will be increasingly unworkable. Consumers will become more knowledgeable about their genomes and many will demand better information. Others will step outside traditional institutions and have their genomes analyzed by companies like 23andMe, bringing increased pressure on doctors to keep up with the latest genome reporting services.

Over the past 30 years, medicine has experienced a profound shift from the paternalistic doctor whose decisions were unquestioned toward a health partnership where patients have the confidence to express opinions about their healthcare (2) (3) (4) (5). Continuing that trend means trusting patients with the full breadth of their genetic information (6). Patient and community groups should be involved in the discussions that are currently establishing the guidelines and policies that will govern genomic medicine. For clinical genomics to respect patient autonomy, patients need a voice in how “clinically actionable” or “incidental” are defined. Wider engagement with citizens now can avoid both infringement of rights and compromises in health as genome sequencing enters the clinic.


  1. Huber, Peter. “A Patient’s Right to Know,” Forbes, July 24, 2006.
  2. Coulter, A. “Paternalism or partnership?” BMJ. 1999. 319(7212): 719–720.
  3. Towle, A., and Godolphin, W. “Framework for teaching and learning informed shared decision making.” BMJ. September 18, 1999; 319(7212): 766–771.
  4. Bury, M., and Taylor, D. “Toward a theory of care transition: From medical dominance to managed consumerism.” Social Theory & Health. 2008 6: 201–219.
  5. Elwyn, G., et al. “Shared decision making: A model for clinical practice.” J Gen Intern Med. 2012. 27(10): 1361–1367.
  6. For a good discussion of this issue see: Saha K. and J.B. Hurlbut. 2011. “Treat donors as partners in biobank research.” Nature. 478, 312-313.

Keywords: medical ontologies, autonomy, genomics

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» 3 responses to “Patients Need a Voice in Shaping the Practice of Clinical Genomics”:

  1. Margaret C. (Full names available only for logged-in users) says:

    Dustin, nice post. I think pairing paternalism and partnership as an either or is problematic. I’m not convinced that industry-consumer “partnerships” like 23andme do not also carry some of the problematic imbalances of power that have been critiqued in the physician-patient relationship. It is also unclear to me how much a consumer can be a partner in research if they are simply providing genetic and phenotypic information without having much control over the research agenda. I think this is an area where there is still much room to innovate and improve the depth of such partnerships.

    To extend your discussion of “clinically actionable”, a colleague and I discussed the clinical implications for the future utility of WGS here:

    • Dustin H. (Full names available only for logged-in users) says:

      Thanks for your comments Maggie. I agree with your points here. I don’t mean to suggest that the solutions being tested in industry (such as by 23&Me) are somehow better than what is possible in the medical community. To the contrary, there are many unanswered questions about how accurate direct to consumer genetic testing is and how private firms will use that data in light of the broad consent that consumers often give. The medical community has, so far, been more cautious about how genomics tools are implemented. When you say that a consumer can’t fully be a partner if they are only providing genetic data and information, I agree. For a true research partnership, consumers/patients should have real authority over who sees their data, which studies or researchers can use it, and whether they want access to the results generated using their samples. And, of course, the ability of patients/citizens to originate their own studies in an idea worth considering if scientific validity can be assured. I’ll be excited to see how this space develops in the coming years.

  2. Erik A. (Full names available only for logged-in users) says:

    Interesting thoughts, Dustin. While I generally agree with your plea for a larger role for patients and/or consumers in the implementation of WGS in health care, I think Maggie has a point in emphasizing the risks and pitfalls of engaging the public, particularly when routed through private companies such as 23andMe. I think an important issue in this context is therefore to think further about the institutionalization of forms of public engagement in defining under which circumstances results can or should be clinically actionable.
    However, the STS perspective of co-production suggests that institutions matter not only to structuring decision-making processes, but also to defining ‘clinical actionability’ itself. I think two further observations around the co-production argument matter in particular. First, the definition of what is clinically actionable is produced within a given institutional infrastructure. It is therefore not only a matter of defining the biological parameters of meaningful risk assessment, but also of seeing how an institutional infrastructure creates a particular space for clinical action around these parameters. This is where a lot of the comparative work in STS (including my own) comes in, since it shows how disease risks, or genome sequences for that matter, are made to be actionable within particular institutional boundaries. An actionable result on the consumer market for health care in the U.S. is very different from one in the publicly funded, state controlled health service with restricted resources in the U.K.
    Second, this would also imply that the kind of hybrid decision-making fora you seem to suggest in your post cannot resort to defining the clinically actionable purely within the walls of the consultation room. There is obviously a dimension of resource distribution involved, which complements the question “which WGS results present sufficient information to perform meaningful clinical interventions” with the questions “and who will pay for all this”. I think WGS and similar technologies require a profound reconsideration of how distributive decisions in health care are made and would argue that the wider public should be involved in making those decisions as well.

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