Implementing and Evaluating Genomic Screening Programs in Health Care Systems Proceedings of a Workshop (2018) / Chapter Skim
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2 Evidence Considerations for Integrating Genomics-Based Programs into Health Care Systems
2 Evidence Considerations for Integrating Genomics-Based Programs into Health Care Systems
Pages 9-32
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From page 9... ...
(Goddard) • It is important to avoid false reassurance and ensure that indi viduals who undergo genomic screening understand that a neg ative result (i.e., screening that does not indicate a pathogenic variant in a particular gene)
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Debra Leonard, the chair of pathology and laboratory medicine at the University of Vermont (UVM) Medical Center, discussed the Genomic Medicine Program at the UVM Health Network, which intends to provide genome sequencing for all 1
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, Murray said, as genetic testing in those 1 For more information on the MyCode Community Health Initiative, see https://www. geisinger.org/mycode (accessed January 16, 2018)
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was found to have a significant gene change that is associated with one of these three conditions, a frequency that Murray noted was higher than newborn screening, which produces a positive result to 1 in 800 individuals. Although the published literature suggests that the prevalence of these three Tier 1 conditions would be lower, Murray believes that this is a very conservative estimate of the 3 For more information on the CDC Office of Public Health Genomics Tier Table Database, see https://phgkb.cdc.gov/PHGKB/topicStartPage.action (accessed January 16, 2018)
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She reported that she had no personal or family history of breast or ovarian cancer; however, her • aternal grandfather died of colon cancer diagnosed in his 70s (grey m square on the right, directly above the pink circle) ; • aternal grandfather died of lung cancer in his 70s (grey square to the p left)
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From page 14... ...
Lessons Learned from Genomic Screening at Geisinger Based on the Geisinger MyCode experience, Murray said, there are several lessons learned that will help in planning for integrating genomic screening into health care delivery systems. First, genomic screening makes some invisible risks visible, as the family health history example of the 57-year-old woman who tested positive for a BRCA2 variant shows.
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Third, unless or until it becomes a frequent event for a practitioner, primary care providers will, in most cases, defer patient management of screening results to specialists due to both practical time and expertise constraints. Finally, genomic screening will provide opportunities to correct clinical misattributions.
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In almost every case, the providers ask if the Geisinger Genomic Medicine team can manage the patient, Murray said. There is educational support, and many providers have tried to learn more as a way to encourage their patients to follow up and to guide their patients to receive the right care.
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One workshop participant asked how the leadership at Geisinger was thinking about penetrance of a disease in the long term. Murray said that they take a very stringent interpretation of genetic variants, which leads to high confidence that the pathogenic variants identified are a risk for driving clinical disease.
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Lynch Syndrome Screening In 2011 Kaiser Permanente Northwest began a study on integrating universal Lynch syndrome screening into care for colorectal cancer patients.5 Seventy-three patients were identified within the health system to evaluate whether Lynch syndrome screening resulted in a change in care management. The population prevalence of Lynch syndrome (1 in 440)
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was not 100 percent, and Goddard suggested that there is an opportunity to improve adherence to these recommended treatments. Lynch syndrome screening among newly diagnosed colorectal cancer patients has now fully transitioned from a research program to a component of the care delivery system at Kaiser Permanente Northwest, Goddard said.
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Another question that may arise is whether receiving carrier screening results will drive an increased use of mental health services, and in this particular study there was no evidence that people were seeking additional mental health services as a result of receiving their carrier results, said Goddard. Another concern was whether women who had received negative carrier results would inappropriately decline recommended care during a subsequent pregnancy (e.g., ultrasound, amniocentesis, non-invasive prenatal testing, quad screen, other genetic testing)
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The working group is attempting to provide resources to the community to help build a consensus around what is actionable for each genetic disorder under consideration or, in other words, what are the well-established, clinically prescribed interventions that can prevent disease or delay the onset of the disease, lower clinical burden, or improve clinical outcomes.7 ALABAMA GENOMIC HEALTH INITIATIVE The Alabama Genomic Health Initiative is a collaboration between UAB and the HudsonAlpha Institute for Biotechnology in Huntsville, Alabama.8 The initiative had a $2 million allocation from the State of Alabama for 2017, with an additional $2 million for 2018, Korf said. The goal of the program is to offer genomic analysis to 10,000 individuals in Alabama in order to both return clinically actionable results and compile a research database and biobank.
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Korf acknowledged the large number of people involved in the initiative, including an oversight committee, principal investigators, and working groups on bioethics, data and bioinformatics, education, genomics, and participant and provider engagement. Lessons Learned by the Alabama Genomic Health Initiative In the relatively short time that the project has been under way, Korf said that his team has learned valuable lessons, which he shared with the workshop participants, including comments about how his team is thinking about these issues as they move forward.
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It is also an opportunity to raise awareness and educate providers and citizens across the state to more readily embrace genomics as it matures in the future. GENOMIC MEDICINE FOR THE UNIVERSITY OF VERMONT HEALTH NETWORK The UVM Health Network serves about 1 million people in Vermont and northern New York.
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The vision of the Genomic Medicine Program in Vermont is to provide "genomes for all," that is, for all of the million or so people in Vermont and northern New York whom the UVM Health Network serves. The program has a clinical genomic medicine component, a genomic translational research component, and a genomic education component, all of them built around a number of central resources including a biobank, genome database, and health care database.
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Bioinformatics are handled through a partnership with PierianDx. Clinical Genomic Medicine The Genomic Medicine Program began genomic testing in 2016 with a cancer gene panel, the GenePanel Solid Tumor test, a screening panel for 29 actionable gene variants useful for diagnosis, prognosis, or treatment of solid tumors such as those in the breast, colon, and lung.
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From page 26... ...
To engage health care providers, 73 leaders across the UVM College of Medicine, Health Network, and Medical Center had their genomes sequenced through an Illumina Understand Your Genome program. The UVM Genomic Medicine Program is also hosting multidisciplinary conferences for health care providers to educate them about genomics through case study discussions that include researchers as well as specialists from applicable disciplines.
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From page 27... ...
Leonard suggested that the All of Us Research Program at NIH could build a genomic medicine database to gather all of the data being generated by programs such as the UVM Genomic Medicine Program as a way to see the landscape of genomic medicine implementation across these systems. Impact on Clinical Care Prior to implementation of the genomic medicine program, other departments (e.g., pediatrics, obstetrics and gynecology, oncology, pathology, and laboratory medicine)
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From page 28... ...
Participants in the Alabama Genomic Health Initiative are given the opportunity to consent to having their information being used for future research, Korf said. This can include longitudinal data collection about outcomes in terms of both disease penetrance and screening and management activities undertaken as a result of the identification of the pathogenic variant.
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From page 29... ...
It is also providing input as part of Epic's molecular genomics workgroup. There is no single EHR in use across the state in Alabama, Korf said, and the Alabama Genomic Health Initiative has no control over entry of information into the EHR.
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From page 30... ...
The Alabama Genomic Health Initiative is not designed to be a test of the value of genomic medicine, Korf said. Rather, it is a test of the particular approach that is being tried in a state which, historically, has not had many large community health programs.
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From page 31... ...
The Alabama Genomic Health Initiative was funded by the policy makers in the state, and this demonstrates a real interest on their part in the potential application of genomic testing, Korf said. The evidence-generating process that resulted in the list of essential health benefits was based on the work of such groups as the U.S.
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