{"id":201,"date":"2013-02-04T15:49:35","date_gmt":"2013-02-04T20:49:35","guid":{"rendered":"http:\/\/stsnext20.org\/vignettes\/?p=201"},"modified":"2013-03-12T06:09:30","modified_gmt":"2013-03-12T10:09:30","slug":"patients-need-a-voice-in-shaping-the-practice-of-clinical-genomics","status":"publish","type":"post","link":"https:\/\/stsnext20.org\/vignettes\/2013\/02\/04\/patients-need-a-voice-in-shaping-the-practice-of-clinical-genomics\/","title":{"rendered":"Patients Need a Voice in Shaping the Practice of Clinical Genomics"},"content":{"rendered":"
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Whose voice is the master when it comes to determining how genetic data is defined and used in the clinic?<\/p><\/div>\n

It\u2019s 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\u2019t 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 \u201cclinically actionable\u201d result. Had you been aware of this possible risk sooner, perhaps you would have been more careful about using sunscreen\u2026 perhaps you would have inquired about your family\u2019s 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?<\/p>\n

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 \u201cclinically actionable.\u201d 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 \u201cincidental findings\u201d 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\u2019t 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.<\/p>\n

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\u2019s 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.<\/p>\n

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\u2019s risk won\u2019t 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.<\/p>\n

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).\u00a0Continuing that trend means trusting patients with the full breadth of their genetic information (6).\u00a0Patient 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 \u201cclinically actionable” or \u201cincidental\u201d are defined. Wider engagement with citizens now can avoid both infringement of rights and compromises in health as genome sequencing enters the clinic.<\/p>\n

References:\u00a0<\/strong><\/p>\n

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  1. Huber, Peter. \u201cA Patient\u2019s Right to Know,\u201d\u00a0Forbes<\/em>, July 24, 2006.<\/li>\n
  2. Coulter, A. “Paternalism or partnership?”<\/a>\u00a0BMJ<\/em>.\u00a01999.\u00a0319(7212): 719\u2013720.<\/li>\n
  3. Towle, A., and Godolphin, W. “Framework for teaching and learning informed shared decision making.”<\/a>\u00a0BMJ<\/em>.\u00a0September 18, 1999;\u00a0319(7212): 766\u2013771.<\/li>\n
  4. Bury, M., and Taylor, D. “Toward a theory of care transition: From medical dominance to managed consumerism.”<\/a>\u00a0Social Theory & Health<\/em>.\u00a02008\u00a06: 201\u2013219.<\/li>\n
  5. Elwyn, G.,\u00a0et al.\u00a0“Shared decision making: A model for clinical practice.”<\/a>\u00a0J Gen Intern Med<\/em>.\u00a02012.\u00a027(10): 1361\u20131367.<\/li>\n
  6. For a good discussion of this issue see:\u00a0Saha K.\u00a0and J.B. Hurlbut.\u00a02011. “Treat donors as partners in biobank research.”\u00a0Nature<\/em>. 478, 312-313.<\/li>\n<\/ol>\n
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    Keywords:<\/strong>\u00a0medical ontologies, autonomy, genomics<\/p>\n

    Suggested Further Reading:<\/strong><\/p>\n