Education is a key component of translating genomics into health care, said Geoffrey Ginsburg, co-chair of the Roundtable. Workshop co-chair Joan Scott added that practical approaches are needed to make significant changes. In the final session of the workshop, a panel of previous presenters discussed, along with the other workshop participants, what needs to happen for health professionals to be effectively educated in genetics. First, they addressed the question of what needs to change. Then they explored how those changes can be realized.
The number of people whose health care is influenced by genetics science or else the number of professionals who have integrated the issues of genome science into their practice needs to change, said Murray Kopelow of ACCME. (Box 6-1 lists the various changes suggested by workshop participants.) Genomics education must be relevant to a health professionals practice and should have an ultimate goal of improving patient outcomes, said Diane Seibert of the Uniformed Services University of the Health Sciences. Bruce Blumberg of Kaiser Permanente agreed with the need to build the case for the relevance of genomic information for practitioners, but he cautioned against overpromising. “Any new technology suffers from an exaggerated early prediction of impact and an underestimate of long-term impact,” he said.
Competencies, once they are developed, provide a roadmap for providers and for the developers of educational resources, said Constance Goldgar of the University of Utah. Clinicians need to be reached in
- Improved patient outcomes (Seibert)
- Genomics education for all health professionals (Seibert)
- The competencies expected of health care providers (Goldgar)
- The clinical care gap (Davis)
- Conflict-of-interest policies (Davis)
- Interprofessional education (Kuo)
- Awareness of genetic factors in health care or the number of professionals who have integrated genome science into their practice (Kopelow)
- The sense of urgency surrounding the issue (Weiss)
practical ways that do not require significant changes to their daily workflow, as this may garner resistance, she said.
The huge amount of information provided by genetics science will require thinking about education differently, a workshop participant added. New tools are going to be needed to explore the genome of each patient, including curated databases of genomic interpretations. But only some physicians, such as pathologists or medical geneticists, will need to know how to use all those tools. Other providers will need what the participant called “genetic sensitivity or curiosity.” “I think moving the needle is just raising genetic awareness across all physicians,” she said.
Some professions need and want more information than others, said Grace Kuo of the University of California, San Diego. For example, pharmacists are very detail oriented and want as much information as possible, while many physicians would consider that same amount of information to be excessive. Expert input will be needed to establish guidelines in these areas.
There is little sense of urgency that change has to occur, said Kevin Weiss of ACGME. To get something done within 3 to 5 years will require that genetics education be given a higher priority than is the case today.
There is a significant gap between what is known and what happens in the clinic, said David Davis of AAMC. “Here we are with knowledge,” he said. “How do we translate that into practice? It is a huge field for us.” He also emphasized the importance of conflict-of-interest issues. Standards for commercial support exist, he said, but are they
enough in the current environment? “I don’t know that we have an answer for that.” Kuo also identified IPE as a significant area in which the needle needs to be moved.
The best way to make the changes that have been identified is to make genetics more relevant to clinicians, Seibert reiterated. (See Box 6-2 for a list of suggested ways to change genetics education in medicine.) For example, she said, the work being done at Geisinger (see Chapter 5) to provide genetics information when it is needed and in a real-world context is particularly promising. “I don’t think there is a better way to gather information, absorb it and keep it than to present it in” a clinical context, she said. She also described the effectiveness of bringing in patients with genetic disorders to teach students about the issues involved:.
- Make genetics more relevant to clinicians (Blumberg, Goldgar, Kopelow, Murray, Seibert, Weiss)
- Encourage the taking of family histories (Goldgar)
- Target promising areas for the identification of genetic risk (Kuo, Seibert, Weiss)
- Identify a specific application that could help close the practice gap (Kuo, Murray, Seibert, Weiss)
- Increase and support interprofessional education (Goldgar, Johnson, Kopelow, Pugno, Raby, Scheuner)
- Explore disruptive technologies such as inexpensive sequencing and pharmacogenomics (Seibert)
- Include educational material and resources in laboratory reports (Raby)
- Work with accrediting and certifying bodies to improve and expand genetics education (Blumberg, Johnson)
- Adopt educational approaches that are more likely to change behaviors (Goldgar, Karty)
- Encourage self-assessments or practice reviews to identify provider needs (Kopelow)
- Develop champions for genetics education (Goldgar)
- Integrate education into the practice environment (Kuo, Murray)
“Educational interactions that involve an interested group of consumers . . . capture an audience and make it real.” Providing lessons drawn from patient cases requires a cadre of peer reviewers to distill information with practice-based relevance, Kuo added. “It takes a lot of work, [but] we need to continue to do that.”
The success of any educational effort in genetics will ultimately lie in the ability to engage clinicians and to make genetics and genomics interesting, said Michael Murray of Geisinger Health System. Work must be done on the backend to ensure that individuals come away feeling energized by and engaged in the encounter, Seibert said. Weiss suggested preparing an “elevator speech” for the chief executive officer of a major health system on why a particular genetic evaluation should be done for all relevant patients. “That exercise sharpens the question of what you could deliver and why you could deliver it,” he said.
Goldgar pointed to the value of having students do pedigrees on their own families, which “engages them immediately.” By working on their own family histories, they learn what a family history looks like in the clinic, where Goldgar also requires her students to do pedigrees. However, the challenge is that this activity is not typically reimbursed and thus once these students reach the clinic, they “unlearn everything because they say no one has time for this,” she said. They see the value of taking the pedigree as students, but when they see that their preceptors forego this completely, they lose all the momentum that they had developed. “There is this whole disconnect between some of the basic things that we need students to be doing, and then unlearning them because you have 12 minutes to see a patient,” she said.
The concept of a family physician needs to be revisited and rejuvenated, Benjamin Raby of Harvard Medical School and UpToDate said. Family physicians have traditionally taken care of families and thus have had a better understanding of the history and potential disease risks of a family’s members. “I don’t know how much that occurs today,” he said. “Things are segmented out. The internists take care of the adults, and pediatricians take care of the children.” A better approach, he said, would be to consider not just single patients but their families and whether genetic testing is worthwhile for them. “From a public health perspective and from the type of engagement that we want to have with our patients, one of the ways to raise the bar and show people how important genetics can be is the role that you can have not only for the patient sitting in front of you but for the patient’s [family].” Obstacles exist, though, for this type of approach, Raby said. For example, testing for the purposes of
counseling other family members is not usually covered by insurance companies.
The field needs to close the practice gap, Weiss said. From a systems or health care delivery perspective, he said, we need to ask: Of everything that is currently known in genetics and genomics, what one thing do we need to integrate into practice that would improve or save lives? Murray made a similar point when he described the need to identify a specific application that could help close the practice gap. This, Murray said, would be “the application where every provider in America says, ‘You know, I really ought to be doing this for my patients,’ or where patients come to me and say, ‘Why aren’t we doing that?’” For example, early data suggest that 2 percent of people may have a cancer predisposition gene or a cardiovascular disease predisposition. “The cost may become low enough and the importance of identifying that 2 percent might be high enough that we might reach the point where everybody says that we need to start knowing more about this and applying it to broad populations,” he said.
Several areas of genetic screening have become well established in practice, such as newborn screening and prenatal diagnosis, as one participant noted. He urged that the field evolve “to the point that we could be doing adult screening toward the objective of identifying risk before pathology and intervening on the risk and the outcomes in the pathologic state.” To convince the public that such screening would have utility, he suggested targeting a few areas where the identification of genetic risk would create an opportunity for intervention. “Two big killers in the United States are cancer and cardiovascular disease,” he noted. “If I were to identify a project area that we could concentrate on and try to prove the principle that adult screening works to reduce morbidity and improve outcomes, I would say it is the cardiovascular area.” Such a program could identify not just those at risk of heart diseases, such as people with hypercholesterolemias from receptor defects, but perhaps also those who might not benefit from receiving an intervention such as an implanted defibrillator.
Seibert suggested focusing on a medical issue like obesity, with its interactions between a person’s individual genome and biogenome. “Patients are motivated about that,” she said. “You might get more traction.” Kuo suggested that pharmacogenomics testing might be a high-leverage application in terms of the potential to identify patients who will benefit most or have the least toxicity from a particular drug.
The value of negative results should not be overlooked, several participants observed. For example, Weiss pointed to the value of a genetic
test that would predict if a person has a very low probability of colon cancer. If such a test eliminated half of the population’s needs to do bowel preps and colonoscopies, he said, “you would be the star of the moment.”
Several speakers spoke of the need for IPE. As Goldgar pointed out, within health care reform there is an increasing emphasis on team-based care, which opens a new door for IPE. Such an approach to education would get people out of their silos and would have particular relevance for genetics, where different practitioners will have different roles but will still need to work together. All practitioners, Kopelow suggested, can ask their institutions what they are doing in the area of IPE and whether they are working toward a jointly accredited system featuring seamless interprofessional planning and development. Today, individuals are accountable to their licensing and regulatory authorities, but teams of professionals also can be held accountable. “That is a new concept, to stand and fall together,” he said.
Continuing medical education should be “a team effort for the team and by the team,” emphasized Sam Johnson of Kaiser Permanente. Johnson also noted the existence of a paradigm shift in delivering continuing medical education, with a much greater emphasis on what, how, and to whom to communicate than on the specific venue. Finally, Johnson said that interprofessional teamwork has to dovetail with more than just education. Licensure, accreditation, and, most important, leadership are all involved.
The role of accrediting and certifying bodies in improving the health care system was also emphasized by Blumberg. These entities provide a link between education and quality outcomes, he said. Assessment can drive learning and create opportunities to be proactive in advancing the knowledge required of practitioners and organizations.
On a similar note, a participant said that a major driver of change for genetics education in medical schools was the inclusion of more genetic questions on the United States Medical Licensing Exam, with a genetics subscore being reported. When the students of an institution do poorly on the genetics part of a licensing exam, the dean of that institution pays attention, he said. One area in which the needle needs to be moved now is the application of genetics knowledge in practice. Such a change could be facilitated through the inclusion of genetics questions on specialty residency exams and participation of geneticists on item-writing committees for the various national boards.
Perry Pugno of AAFP pointed to the value of an annual conference on practice improvement that includes everyone on a health care team, “not just the physicians and nurses, but the receptionist and the medical assistant and the practice manager and the biller and everybody involved in that patient’s encounter.” In a similar vein, Raby reiterated the value of creating incentives to have people within a hospital shadow the health care providers in other clinics “because that is one of the best forms of education—to actually see what other people are doing.” As an example of such an effort, Maren Scheuner of the U.S. Department of Veterans Affairs pointed to a program in which 150 internal medicine residents at the Veterans Health Administration hospital have 1 week in which they rotate through different subspecialty clinics. “It is the first time since I have been there in 5 years where I am able to interact with internal medicine residents,” she said.
Disruptive technologies could foment major changes in genetics education, several workshop participants pointed out. Seibert noted that very cheap whole-genome sequencing could “change the world faster than we can keep up with it.” Murray added that there is also the potential that if the field does not generate a plan and carry it out itself, others will dictate to the field how to do so instead. “My hope is that we will stay ahead of that curve,” he said.
The potential of laboratory reports to serve as a portal for genetic education was a prominent topic of discussion. For example, Raby pointed out that including education within laboratory reports is a way of educating practitioners without forcing them to engage in an educational program. Furthermore, in this way geneticists can empower other subspecialties to act on genetic information.
However, Blumberg pointed out that information for clinicians on what to do next in laboratory reports assumes a perfect genotype–phenotype correlation and complete laboratory access to clinical information, but neither condition applies in the real world. “There are a lot of things about the indication for the test and the family structure and the patients’ philosophy of care, etc., that the laboratory could never know,” he said. “I would argue that it really is a dialogue between clinicians and laboratorians that ought to determine what next steps ought to be. It would be the rare, rather than the common, circumstance that the laboratory would know enough about the case and enough about the genotype–phenotype correlation to give advice as to what the next step ought to be.” Kuo added that a lot of hospitals and clinics do not have laboratories
that provide genetic testing at this time. “That is a real challenge in the practice sense.”
Raby countered that a laboratory does not need the perfect genotype–phenotype correlations and the entire clinical picture to be able to make suggestions. For example, at the end of each UpToDate topic, authors are encouraged to make recommendations for action if appropriate. In addition, standards could be developed for deciding when information should and should not be included. Raby also pointed out that tremendous amounts of information are soon going to be available from multiplex testing and massively parallel sequencing. “The clinician is going to be faced not only with the result from the gene that they asked for, but from maybe 100 or more genes that they didn’t ask for,” he said. The result will be much greater costs and effort by clinicians, and patient and family anxiety could be increased.
The approach taken in delivering genetics education can make a big difference, several speakers noted. Medical education could be required to add components that are more likely to change behaviors, such as an interactive component, Goldgar suggested. Easier access to patient outcomes would help in the evaluation and design of continuing medical education, said Ann Karty of the Council of Medical Specialty Societies. Genetic counselors may also be well poised to be educators, observed a participant, because they are involved with many different disciplines.
Kopelow argued that the most productive use of a limited amount of interest by clinicians in genetics education would be to have them do a self-assessment or practice review to identify what their needs are. Even a short period of time devoted to this end could launch people on “a lifelong journey to try to solve their problems,” he said. He also suggested that physicians could be taught to ask a few key questions that can open the door to the use of genetic information in a clinical encounter. “In the substance abuse world, they have this thing called screening and brief intervention,” he said. “If you get the docs to ask [their patients], ‘How many times in the last month have you had five drinks in one day?’ that is all you have to do to open this whole world and do an intervention.”
Finally, Goldgar pointed out that one way to move the needle is to develop champions across specialty areas for genetics education. Encouraging and supporting champions for change creates a “top-down, bottom-up approach” that can make a difference, she said.
Co-chair Joan Scott concluded the workshop by thanking the participants and pointing to a theme underlying much of the discussions. “I was surprised and gratified to hear that there did seem to be a general agreement about what [needs to change]—that is the awareness within the broader community about the relevance of genomics.”
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