5
Closing Remarks

The roundtable chair, Wylie Burke, reiterated that the workshop was held to gain a better understanding of the diverse perspectives that different stakeholders have regarding the value of genetic testing. Catherine Wicklund, lead member of the workshop planning committee, said that the original plan for the workshop was to discuss implementation: Beginning with the assumption that all of these genomic tests have value, how can they actually be implemented? But from discussions at the previous meeting of the roundtable it became clear that the concept of value needed to be better understood first. As such, three diverse genomic scenarios were chosen for this workshop to serve as the basis for a discussion of the subtle differences between different types of tests and to help participants look for common aspects that are valued.

Burke called upon the case scenario presenters and the participants to share their thoughts on take-home messages of the day and to offer questions for further consideration by the roundtable.

RESEARCH SYSTEMS

A participant noted that one recurring theme was the absence of a suitable research infrastructure for obtaining the necessary data needed to answer some of the questions raised. A related message was that the type of technology currently being employed for genomic profiling is a separate issue from the information and lessons one can learn from genomic profiling. For example, debating the clinical utility of SNP profiling is irrelevant



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5 Closing Remarks The roundtable chair, Wylie Burke, reiterated that the workshop was held to gain a better understanding of the diverse perspectives that dif- ferent stakeholders have regarding the value of genetic testing. Catherine Wicklund, lead member of the workshop planning committee, said that the original plan for the workshop was to discuss implementation: Beginning with the assumption that all of these genomic tests have value, how can they actually be implemented? But from discussions at the previous meeting of the roundtable it became clear that the concept of value needed to be better understood first. As such, three diverse genomic scenarios were chosen for this workshop to serve as the basis for a discussion of the subtle differences between different types of tests and to help participants look for common aspects that are valued. Burke called upon the case scenario presenters and the participants to share their thoughts on take-home messages of the day and to offer ques- tions for further consideration by the roundtable. RESEARCH SySTEMS A participant noted that one recurring theme was the absence of a suitable research infrastructure for obtaining the necessary data needed to answer some of the questions raised. A related message was that the type of technology currently being employed for genomic profiling is a separate issue from the information and lessons one can learn from genomic profil- ing. For example, debating the clinical utility of SNP profiling is irrelevant 4

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0 ThE VALuE Of GENETIC AND GENOMIC TEChNOLOGIES because it is still not known whether there is clinical validity. The discussion should be focused on how to push a technique through to utility once it has been shown to have clinical validity. Marc Williams, who presented the Lynch syndrome case scenario (Chapter 2), agreed with the need to build an infrastructure so that some of the questions can be more efficiently answered. He noted that the infra- structure of the Intermountain system is useful in this regard. The compa- ny’s approach thus far has been very pragmatic, culling through the list of things that are potentially available and investing time and effort on those things that, from the company’s perspective, would return value for Inter- mountain patients. Bruce Blumberg, who presented the genomic profiling scenario (Chap- ter 4), agreed that there is a problem with the current paradigm for evidence generation. Technology is advancing more rapidly than our evidentiary approach is able to keep up with. The one-disease-at-a-time, one-test-at-a- time, one-SNP-at-a-time approach to research is no longer viable. Wicklund noted that funding for research is another important issue. Blumberg said that people tend to be more engaged in something when they have an investment in it. He recommended determining who will benefit from the evidence generation and then asking them to underwrite at least part of the cost of the research. Because they are invested in the process, they will be more likely to follow through in adopting and implementing any recommendations that come out of the studies. HOW MUCH DATA ARE ENOUGH? Blumberg returned to the question of “When is enough, enough?” that was raised relative to Lynch syndrome testing, and he asked it of pharma- cogenomic testing for warfarin dosing. There is already enough evidence, he said, to conclude that there is no major benefit from genomic testing versus current modes of coagulation management in well-managed clinics. When the effect that is being studied is small, more evidence is needed, and larger and longer studies must be done. When will we be convinced that there is—or is not—some small benefit of genomic testing? If there is such a benefit, decisions should be made based on the needs in each individual clinical setting. For example, genomic testing for warfarin sensitivity may not add value in a well-managed coagulation clinic, but it may be helpful in other settings. Marc Williams added that too often, not just in genetics but in medi- cine in general, the approach to problem solving is to assemble panels of experts and “think problems to death.” One can always construct worst- case scenarios, he said, but when ideas are implemented, it is rare for those worst-case scenarios to occur. The best-case scenario may not occur either,

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 CLOSING REMARKS but medical practice cannot become paralyzed by the idea that everything must be analyzed and must be exactly right before it can be used. There must be protected harbors where we can learn what is wrong, rapidly make it right, and determine how to apply it. This is how we will learn where the value lies. PERSONAL VERSUS CLINICAL UTILITy Clinical practice resides at the intersection of public health and per- sonal health, Blumberg said. Physicians are responsible for the welfare of the individual patient who is before them, but at the same time that patient is part of a population, and management of that patient has implications for the entire population. Taking that approach, if a patient asks for and is given a test that has some benefit, then every patient in the practice popula- tion who might benefit from that test ought to be proactively offered the same test. Blumberg observed, however, that especially in the genomic pro- filing case there is a disconnect between public health and personal health. Some tests that have not been demonstrated to have clinical utility clearly have personal utility. On the individual level it would be paternalistic to presume to know what is in the person’s best interest. It is much easier to determine what is in the best interest of the public. How then, Blumberg asked, can personalized care or personalized service be scaled up to an entire population? Along the same lines, Williams said, is the question of how providers can do a better job of delivering in that short 15-minute appointment what the patient really wants when there is not enough time to deliver all of the preventive messages. Is it possible to identify those patients who are ready to change and target their visits to focus on those areas where there is a high likelihood of behavioral change? If a patient arrives with genomic profil- ing results in hand and a list of concerns, that is a teachable moment. A physician should not spend time debating whether this SNP is valid or that SNP is not. The physician should instead focus on the patient’s concerns and talk about what is known and what can be done. This customizes the visit for that individual patient based on what he or she wants to do at that particular time. To some degree, Williams said, physicians have always done that, but in a very crude way. Wicklund said that, because she was coming from a pre-natal clinical setting, she expected that there will be companies offering panels of over one hundred different single gene tests to determine carrier status. The cost might be less for a panel of 100 than for a single genetic test for cystic fibrosis or spinal muscular atrophy. How does one balance value in that situation? If one’s goal is to achieve clinical utility, a participant suggested, there are three steps that can be taken to achieve normative change. First, the

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 ThE VALuE Of GENETIC AND GENOMIC TEChNOLOGIES physician should recognize that an opportunity has presented itself and should take advantage of that opportunity. If the patient wants to give up smoking or complains about being overweight, the physician should seize that opportunity for intervention. Evidence shows that when a physician recommends a change, the patient is more likely to go through a change. If the physician is not responsive, the patient is less likely to take any action. Second, a physician does not need to be directly involved in areas where he or she does not have expertise and instead should have a referral ready for the patient (e.g., a family planning facility, a drug abuse clinic, a tobacco program, or 1-800 numbers and state-run hotlines). Third, physicians should join an outside group that addresses at least one of these issues in order to help keep the issue alive. This is a responsibility we have as prac- titioners, the participant said. In summary, take advantage of opportunities with patients, send them to places where they can get help, and be a part of the wider community that addresses at least one of those risks. ROUNDTABLE ACTIVITIES Williams’ advice to the roundtable was to go forward with the imple- mentation workshop that Wicklund said had been originally intended and to invite groups that have actually implemented some of these genomic tests. These groups have had to consider many of the issues raised over the course of this workshop, and while the answers and solutions they have come up with may be locally oriented, they can offer an array of perspec- tives on what has been successful and what has been less so. In all of the cases that were presented, a participant said, a collabora- tive healthcare delivery model could be an important component of success. She suggested that the roundtable could, as part of the implementation discussion, look to other areas of medicine for models of successful col- laborative delivery that could be applied to genomics. A participant observed that overlaps and redundancies exist in some of the activities of the various stakeholders at the workshop. He suggested that the roundtable consider whether the creation of a genetics and genom- ics research network would be helpful. This would be a body focused on overarching strategy and coordination, somewhat similar to the HMO Research Network, so that it would not lead to an excess of parallel activity but rather a synergy of efforts. Burke responded that the emerging Genomics Applications in Practice and Prevention Network (GAPPNet)1 has some of those goals, and that the roundtable has discussed the need to coordinate activities with GAPPNet. 1 See http://www.cdc.gov/genomics/translation/GAPPNet/index.htm.

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 CLOSING REMARKS CHAIR’S SUMMARy Burke said that throughout the workshop she had heard a wide range of optimism and pessimism about the potential benefits of different applica- tions of genomic information in health care. There seems to be agreement that data on outcomes are needed, specifically about benefits and harms. But there is perhaps less agreement as to whether that data can come from practice (implementing potentially beneficial applications) or whether specific measures, actions, or research programs need to be undertaken in order to acquire the evidence. Some of the barriers to data collection that were cited include lack of motivation, lack of funding, and inadequate infrastructure. In addition to questions about how the data should be obtained, there may also be underlying differences of opinion regarding what types of evidence are most important. These are issues that could be explored using the convening function of the roundtable, Burke suggested. As was noted during the workshop, many of these challenges are not exclusive to genet- ics, but rather are core issues for health care as a whole (e.g., effectiveness versus efficacy data, building efficient research infrastructures, and random- ized controlled trials versus other types of evidence). What, if any, are the specific challenges involved with accumulating data about genomics? Also noted during the workshop was the fact that there are established analytic approaches for evaluating screening tests that have not yet been applied to genomic tests. Personal genomics currently is not considered a screening model, Burke said, but rather a direct-to-consumer model in which people choose whether or not they want the information. But the underlying health model is, in fact, a screening model. One would screen for risks in people that do not currently have a problem in order to take action to improve the ultimate health outcome. Knowledge from other screening venues should be taken into account and included in the conversation about genome-derived evidence. Another major topic was clinical utility versus personal utility, and Burke said it might also be important to consider clinical use versus personal use. That is, what genomic information should be used by the healthcare sector in order to accomplish the traditional goals of that sector, and what uses of genetic information are legitimate draws on the resources available for healthcare? There may be reasonable personal uses of genomic information that are not appropriate for bringing into the healthcare setting, and these would be considered consumer-oriented tests. As we address the evidence questions, Burke said, should these two different uses be considered sepa- rately? Is it possible to consider them separately? When considering clinical use, it is important to have evidence of a health outcome benefit. In contrast, when considering a test for personal use, the focus may be more on potential harms associated with use, as is the case with other consumer products.

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