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3 New Models for Service Delivery INFORMED MEDICAL DECISIONS, INC. Heather Shappell, M.S., C.G.C. The Institute of Medicine report Assessing Genetic Risks: Implications for Health and Social Policy (IOM, 1994, p. 148) states: As genetic testing expands with the growth of new genetic tests, genetic counseling and education will need to adapt to new modes and settings for the delivery of genetics services, without sacrificing quality. Unfortunately for patients, health care professionals, and payers in need of skilled genetic health care providers, these same issues are being dis- cussed today, without much change. The scientific community makes great strides, bringing hundreds of new genetic tests to market each year. The rate of discovery, commercialization, and marketing of these tests is accelerating every day. Yet the health care delivery system has not always kept pace with incorporating these new innovations into everyday practice. A group of former surgeons general recently published a national call to action on cancer prevention and survivorship. The report states, “A shortage of board-certified genetic counselors has made access to reliable information challenging for patients and health care professionals” (Cabe and Springer, 2008, p. 9). The report goes on to offer the telephone genetic counseling service model of Informed Medical Decisions (INFORMED) as a potential solution to this problem. 

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 INNOVATIONS IN SERVICE DELIVERY IN THE AGE OF GENOMICS The idea for INFORMED grew out of Shappell’s observations as a genetic counselor responding to telephone and e-mail questions from both patients and health care providers. Questions posed by both patients and providers, before and after they had received test results, clearly demon- strated the dangerous misinformation and lack of information about genetic tests. Attempts to find local genetic experts and refer patients to them were often complicated because of the lack of such experts in many areas of the country. In too many instances, the closest genetic counselor or expert was hundreds of miles away. Traditional genetic counseling services, when locally available, were often seen as inconvenient in terms of wait times for appointments as well as the time commitment required by patients (most centers required at least two in-person appointments) to access the services. Furthermore, attempts to locate local Spanish-speaking experts were nearly always futile. Shappell observed that many physicians were unwilling to refer their patients to a genetic counselor, even when they felt genetic counseling was important, because the counselor practiced at an organiza- tion that was viewed as a competitor. Direct-to-physician and direct-to- consumer marketing of tests was increasing, and providers and patients were being directed away from appropriately trained and unbiased experts. In addition to these patient-centered challenges, insurers faced difficulties as well. They recognized the importance of genetic counselors and preferred to pay for pre- and posttest counseling rather than paying for indiscriminate testing. However, many insurers did not realize that genetic counselors could not bill directly for their services. Acting on lessons learned, INFORMED developed a telephone and Internet protocol for cancer genetic counseling service delivery that focuses on access to high-quality unbiased genetic counseling services that are in accordance with national guidelines. Counseling is required before testing can be considered, and the primary care physician is engaged throughout the process. INFORMED worked with a health literacy expert from the Centers for Disease Control and Prevention (CDC) to develop web content and patient materials, with the goal of presenting the necessary informa- tion in a way that patients could readily understand. INFORMED provides genetic counseling in both English and Spanish 7 days a week and has a capacity of 5,000 new genetic consultations per year with a network of contracted counselors that allows this number to more than double on demand. When a patient first visits the INFORMED website, he or she completes an online risk screening tool, which assesses whether he or she would ben- efit from genetic counseling. Next, the patient fills out a personal and family medical history questionnaire and makes an appointment to speak with a

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 NEW MODELS FOR SERVICE DELIVERY genetic counselor by telephone. Anyone who does not have access to the Internet can use the telephone to provide his or her family medical history and schedule an appointment. During the appointment, patient and coun- selor discuss family history, cancer risk, and testing options, and the patient decides whether or not to go forward with a genetic test. INFORMED charges for this initial counseling session only to ensure that the goal of the call is to make an informed decision, rather than to encourage testing. If a patient decides to obtain a test, INFORMED sends a precom- pleted test kit to the patient and contacts the personal physician to ask him or her to act as the ordering physician. After test results are received by INFORMED, a result disclosure follow-up call is scheduled with the patient in which the genetic counselor talks about results, risk, prevention, and screening options to discuss with the patient’s physician, and what the results mean for members of a patient’s family. Finally, a thorough personal genetic counseling summary report is sent to the patient and the physician. INFORMED’s genetic counselors are available at no additional cost at any point during this process to answer questions from the patient or the provider. In late 2007, after an initial pilot program, Aetna decided to cover INFORMED’s telephone genetic counseling services for all 16 million Aetna members nationwide. In addition to this direct partnership, INFORMED collaborates in other ways with payers and physicians, such as helping payers assess which genetic tests have proven clinical utility, creating reim- bursement or coverage criteria for those tests, and providing individual case consultation as needed, for example, when a patient appeals a denial for genetic testing. The innovative service delivery model that INFORMED has created has worked to integrate providers, patients, and payers into one efficient delivery system. As genomic innovations progress, systems such as these may serve as an example of how to overcome many barriers to traditional genetic counseling and provide effective, time- and cost-efficient services to patients. NAvIGENICS Elissa Levin, M.S., C.G.C. The field of web-based genetic testing has expanded rapidly in recent years, offering everything from traditional diagnostics to dating matches

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 INNOVATIONS IN SERVICE DELIVERY IN THE AGE OF GENOMICS based on DNA. People seek genetic testing online for many reasons, includ- ing the following: • In-person genetic testing requires making an appointment, often months in advance, traveling to a clinic, taking time off from work, and perhaps finding child care. • Provider awareness of genetic testing options is not always optimal. • A patient may see value in a test while a provider does not. • Web-based testing can be more cost-effective. • Some patients have privacy and confidentiality concerns that drive them to seek testing online. • Patients—fueled by media attention, information on the Internet, or their own investigations—may have a proactive interest in learn- ing about genetic contributions to disease and be unwilling to wait until new tests have been integrated into clinical practice. Web-based genetic testing varies both in types of testing offered and in the model of service used. Types of testing range from diagnostic (to confirm or rule out monogenic disorders and specific genetic conditions), to predisposition (the risk of developing diseases with a genetic basis before signs or symptoms occur), to recreational (e.g., ancestry, nutrigenomics, dating). Models of service range from direct access testing that has no phy- sician ordering, no context given for results, and no professional support, to a “virtual” clinic, which includes physician involvement, genetic counseling, and ongoing support and education. Patients and providers need to know many things about the companies that offer genetic testing directly to consumers, including • the type of genetic testing offered, • whether the laboratory used has CLIA (Clinical Laboratory Improvement Amendments) certification, • whether educational information is provided, • the level of services provided, • whether genetics professionals are involved in providing the services, • if interpretation of results is provided and whether this is clear and consumer friendly, • if the company engages one’s physician, • if costs are clearly stated or whether there are there additional hid- den costs, and • if company privacy policy and standards are available. Three examples of these new models of web-based testing companies are Kimball Genetics, DNA Direct, and Navigenics. Kimball Genetics is a

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 NEW MODELS FOR SERVICE DELIVERY consumer-driven testing service. Patients can go to Kimball’s website and order a test directly from the company, but they are required to provide physician contact information. A test kit is sent to the patient, who sends it back to Kimball’s CLIA-certified laboratory for processing. Results, includ- ing interpretive reports, recommendations, and educational information, are sent to the patient’s physician. Genetic counselors are available by telephone to patients, families, and providers. The mission of DNA Direct is to create a virtual setting that mir- rors traditional clinical practice. The company uses questionnaires, pre- test education, and genetic counseling to address patient concerns about inheritance patterns, risk factors, the limits of testing, the testing process, insurance coverage, and family history. DNA Direct has condition-specific protocols—for example, BRCA testing requires in-depth, pretest genetic counseling services. Once a patient chooses to pursue a genetic test and the results are available, a web-based customized report is provided that includes family and medical history information, a lab report, and letters to the physician and the family. This report helps the patient build an action plan for future steps. The web-based report is unique in allowing the company to track what information interests its patients most. Patients can follow many different links after seeing their results, from medical guidelines to support resources. By observing which links are used and in what order use occurs, DNA Direct can adapt materials to meet consumer demand. DNA Direct reports that of its clients who took a test, 34 percent test tested positively for the mutation or condition of interest. In contrast, rates in a large reference laboratory are approximately 7 to 10 percent (Phelan et al., 2008). According to Levin, Navigenics was founded by a human geneticist and a clinical oncologist in April 2008, with the goal to “improve individuals’ health across the population by educating, empowering, and motivating people to take action to prevent the onset of disease or lessen its impact.” The Navigenics Health Compass uses SNP chips (single nucleotide poly- morphism microarrays) to determine genetic predisposition for a variety of common diseases and provides information on how patients can delay or prevent the onset of those diseases. Membership in the Navigenics Health Compass is $2,500 initially, with a $250 resubscription fee each year thereafter. Members provide Navigenics with a saliva sample that is sent to a CLIA-certified lab for a genome-wide scan that captures data on 1.8 million genetic markers. The results of this scan are uploaded into a private web portal that members can access at any time. This online access details, among other things, • the patient’s risk and the average risk for a variety of diseases, • in-depth condition reports,

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 INNOVATIONS IN SERVICE DELIVERY IN THE AGE OF GENOMICS • preventive measures that can be taken, and • guidance on how to discuss results with one’s primary physician. In addition, members have access to board-certified genetic counselors with specific training in risk assessment for common, multifactorial health conditions. As new research emerges, Navigenics evaluates evidence about the clinical validity and utility of genetic tests and updates member reports with the new information. To be included in the Navigenics Health Compass risk estimates, each SNP–disease association must meet a series of scientific and clinical criteria: • The association must be replicated and published in top-tier jour- nals. Studies must use a reasonable sample size to detect weak effects. • There must be a statistically significant result after correction for multiple testing. • Evidence of the association must come from a well-designed study with sound laboratory practices. • Clinically, a condition must affect more than 1 in 1,000 Americans. • The condition must be clinically relevant and actionable, meaning that early screening, lifestyle, or medication can make a differ- ence; it must affect multiple organ systems; or it must affect other diseases. • Finally, the risk information must be clinically and socially respon- sible. For example, Navigenics will not test for IQ, athletic propen- sity, or HIV susceptibility. More than 95 percent of studies fail to meet Navigenics criteria, and Navigenics currently tests for 23 conditions (see Box 3-1). Members can opt out of learning about specific conditions. According to Levin, Navigenics research has shown that its members are capable of handling the complex predictive nature of the information provided. They understand the concept of risk factors and how environ- mental, behavioral, and genetic factors all play a role in health status. Many members report feeling empowered and informed. In addition, 46 percent of early testers took actions such as lifestyle modification, screening, or treatment interventions in response to their test results. More research is needed, however, to understand the long-term effect of genomic risk information on health behaviors. Navigenics is in the early stages of col- laborating with several academic institutions on research studies designed to address this issue.

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 NEW MODELS FOR SERVICE DELIVERY BOX 3-1 Conditions Covered by Navigenics Genetic Testing in 2008 • A bdominal aneurysm • Lung cancer • A lzheimer’s disease • Lupus • A trial fibrillation • Macular degeneration • B rain aneurysm • Multiple sclerosis • B reast cancer • Obesity • C eliac disease • Osteoarthritis • C olon cancer • Prostate cancer • C rohn’s disease • Psoriasis • Diabetes, type 2 • Restless legs syndrome • Glaucoma • Rheumatoid arthritis • Graves’ disease • Stomach cancer • Heart attack According to Levin, companies that are using new and innovative genetic testing models, including Navigenics, Kimball Genetics, DNA Direct, and others, are stretching the bounds of what health care delivery is and what it could be in the future. Whether the models require the participation of a primary physician, market directly to consumers, or blend aspects of new and traditional service delivery, these companies are attempting to address some of the challenges of conventional genetic services and are attempting to shorten the gap between research findings and clinical use and to give consumers more autonomy in managing their health care and well-being. CINCINNATI CHILDREN’S HOSPITAL MEDICAL CENTER Cynthia Prows, M.S.N., R.N. The translation of genomics into clinical care will greatly influence diagnosis and treatment of complex pediatric disorders. Genomic discov- eries can help define molecular and cellular mechanisms of disease, can be the basis for new therapies, can identify predispositions to childhood dis- orders, and can identify susceptibility to unintended responses to available therapies. At Cincinnati Children’s Hospital Medical Center, researchers and clinicians are collaborating on two projects aimed at bringing genetics

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 INNOVATIONS IN SERVICE DELIVERY IN THE AGE OF GENOMICS into the clinical setting: the Genetics Pharmacology Service and a nurse education program. Cincinnati Children’s Hospital focused on pharmacogenetics for several reasons: The influence of genes on drug metabolism has been studied for more than 50 years; medications influenced by CYP2D6, CYP2C19, CYP2C9, or TPMT variants are used in pediatric settings; clinical tests exist for these genes; and clinicians in specialty practices expressed interest in using pharmacogenetics. The Genetics Pharmacology Service received internal start-up funding in 2003, and the service became available in July 2004. The primary developers of the service, Richard Wenstrup, M.D., Tracy Glauser, M.D., and Alexander Vinks, Pharm.D., Ph.D., promoted the full integration of genetic testing and pharmacology by making sure that specialty clinicians were involved in the process and by using experts to develop intuitive ordering systems and report templates. The goal of the pharmacogenetics project was to improve patient safety by giving providers the tools they need for using genetic information appro- priately to prescribe and dose medications. Thirty-six drugs were identi- fied for which there was clear evidence that polymorphisms in CYP2D6, CYP2C19, CYP2C9, or TPMT resulted in variable metabolism. One of the key features of the system is that providers order pharmacogenetic tests by drug, rather than by gene, so there is no need for providers to memorize or keep up-to-date on gene–drug associations. The developers of the program strove to make the ordering system intu- itive, efficient, and simple. In the current system, when a provider chooses to prescribe a drug for a patient, he or she uses a computer ordering system with fields for dose, route, frequency, and other notes. When the provider prescribes one of the 36 selected drugs, an automatic pop-up screen asks the provider if he or she wants to order a pharmacogenetic test that can help predict how the child would metabolize the drug. The provider is required to answer “yes” or “no” before moving on to the next screen. If a patient has already had a genetic test done for the gene in question (but for a differ- ent drug), the provider is asked if he or she wants to order an interpretation of the genetic results for the new drug. If a provider is prescribing a drug for which a test has already been completed, the provider can choose to view the results. Once a test is ordered, results are available within 2 business days. The lab operates days and evenings, Monday through Saturday. Reports include the type of test performed, the predicted phenotype, general dosing recommendations, key enzyme inhibitors and inducers, critical drug–drug interactions, test limitations, and the location of supplemental information. The actual genotype was not originally included in the report because of concerns about insurance discrimination. Over time, the service has been altered in response to feedback from

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 NEW MODELS FOR SERVICE DELIVERY providers. Psychiatrists were concerned about ordering a new test each time they shifted from one medication to another while searching for an effective treatment. Therefore, a panel was provided that tested and inter- preted both CYP2D6 and CYP2C19. Pediatric gastroenterologists and oncologists at Cincinnati Children’s Hospital were already accustomed to ordering TPMT; they wanted to continue ordering by gene and wanted the genotype included on the report. Adult oncologists in the local community requested tamoxifen pharmacogenetic testing, and local cardiologists and thoracic surgeons were interested in using CYP2C9 and VKORC1 tests for warfarin dosing. Another major component of Cincinnati Children’s Hospital’s genetics program is the education of nurses and other providers. Before implement- ing the Genetics Pharmacology Service, providers were educated about how the program would work and how it could assist in delivering patient care. Education was provided through in-service training programs and at faculty–staff meetings, pediatric grand rounds, resident conferences, and unit-based nurse educators meetings. Patient and parent fact sheets were posted online, and education binders were provided for every patient care unit. In addition, Cincinnati Children’s Hospital has a Genetics Education Program for Nurses (GEPN) that offers online genetics educational oppor- tunities and resources. There are moderated classes as well as self-paced modules on topics ranging from ethics to environmental genetics. The 18- week Genetics Institute course has been offered since 2002, and 193 nursing faculty and advanced practice nurses have completed the course. There have been 1,189 individuals who have completed one or more training modules, including 196 in the pharmacogenetics module. DISCuSSION Wylie Burke, M.D., Ph.D., Moderator One participant asked presenters to clarify how their organizations define “validated” associations. He noted that, for example, testing for CYP450 for SSRIs (selective serotonin uptake inhibitors) was not recom- mended by the Evaluation of Genomic Applications in Practice and Preven- tion (EGAPP) because there are no data on clinical validity and utility or on patient outcomes. He expressed concern that in this confusing, rapidly mov- ing environment, new ways of implementing service delivery may be risky. Shappell responded, stating that INFORMED does not sell genetic testing; it provides access to genetic counseling. When stating that INFORMED

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0 INNOVATIONS IN SERVICE DELIVERY IN THE AGE OF GENOMICS offers only tests for which there is clinically useful, actionable information, this means tests that have national guidelines recommending testing in cer- tain clinical situations. Because INFORMED works directly with payers to help them identify clinically useful tests, counselors talk to patients only about tests that have already been approved by their health insurance plans. If a test that is clinically useful according to national guidelines is warranted and the insurer has not yet created a testing coverage policy, INFORMED works with the health insurer to assist in developing an appropriate policy for coverage. Prows concurred with the questioner that there are no large, random- ized controlled trials that prove the clinical utility of pharmacogenetic test- ing for psychiatry. She went on to point out that because drugs prescribed in children’s psychiatry are only about 50 percent effective, providers want and need as much information as they can get when they are choosing medications. Another participant directed a two-pronged question to Levin. First, it appears that physicians doubt the clinical value of many of the tests being offered by direct-to-consumer companies. Might this be a sign that the testing is not ready to be put into patients’ hands? Second, a virtual clinic requires a virtual patient. How does Navigenics know who its patients are and where the samples are coming from? Levin responded that the physi- cians who work with Navigenics and are using the service tend to be early adopters who are interested in maximizing the number of tools that they have to tailor health care. Although it is perhaps too early to think about genetic testing being incorporated into a primary care context, there is moti- vation in the health care community to use genetic tests from those who are actively engaged in thinking about the clinical utility of genetics. Concern- ing the question of who the patients are, Levin stated that Navigenics does not test minors and that a consent form is required to proceed with testing. It is recognized that some clients use pseudonyms and that it is not always possible to know the actual identity of the individuals tested. Another participant asked Prows about the voluntary nature of the pharmacogenetic testing program. If the testing is beneficial, why not require that physicians use it rather than making it optional? Prows responded that providers need to feel that the testing will assist them in their decision making; some people rapidly adopt new technologies, whereas others are more reticent and should not be forced to use them. Another participant said that because genetic testing is not yet the standard of care, a physi- cian still needs to have the option of deciding whether or not to use it. It is assumed that when genetic testing does become the standard of care, it will no longer be optional, the participant continued, noting that many new technologies over the years have gone through these phases from optional to standard.

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 NEW MODELS FOR SERVICE DELIVERY A final questioner asked if Cincinnati Children’s Hospital had gathered data to indicate whether the program is having an effect on clinical utility. Prows clarified that the program was designed as a clinical service, not as a research program, so plans were not put in place to collect outcomes data. As such, clinicians did not consistently document in the charts how pharmacogenetic testing affected their clinical decision making, hindering attempts to assess the impact of the tests by implementing a retrospective research study. Additionally, clinical services do not systematically collect outcome data. Prows noted that Cincinnati Children’s Hospital is currently developing different study designs (e.g., registry) to address the clinical util- ity of pharmacogenetic testing.

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