Realizing the Potential of Genomics across the Continuum of Precision Health Care Proceedings of a Workshop (2023) / Chapter Skim
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6 System-Level Challenges and Opportunities
6 System-Level Challenges and Opportunities
Pages 51-64
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From page 51... ...
(Zazove) • Structured genomic data and clinical decision support tools that are integrated with the EHR are needed to enable genomics as part of routine care.
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From page 52... ...
(Irons) The final panel session, moderated by Greg Feero, professor in the Department of Community and Family Medicine at Geisel School of Medicine and faculty at Maine Dartmouth Family Medicine Residency Program, examined system-level barriers to the widespread adoption of genomics in health care.
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From page 53... ...
GENOMICS IN FAMILY MEDICINE PRACTICE Philip Zazove, professor emeritus and past chair of the Department of Family Medicine at the University of Michigan, shared his perspective as a family medicine physician on the main systems issues that are affecting the uptake of genomics in primary care and offered some potential solutions. Quality of Care Primary care providers have, on average, 15 to 30 minutes to spend with each patient to address the reasons for their visit, Zazove said.
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From page 54... ...
Zazove said it can also be very difficult for the primary care providers to get information about the patient's genetic history and test results. He noted that genetics clinics have staff dedicated to gathering and reviewing each patient's genetic history and test results, and family medicine practices generally do not have the resources to do this.
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From page 55... ...
ISSUES FOR THE LABORATORY Karen Kaul, chair of the Department of Pathology and Laboratory Medicine at NorthShore University HealthSystem and clinical professor of pathology at the University of Chicago Pritzker School of Medicine, said DNA- and RNA-based testing have "revolutionized" the practice of medicine. For example, somatic genomic testing of cancer cells aids diagnosis and informs treatment decisions, and germline testing has many applications, including diagnosis of genetic disorders, assessment of risk of heritable cancers, and pharmacogenomics.
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From page 56... ...
Reimbursement of Testing One systemic testing-related barrier that has been discussed, Kaul reiterated, is the need for reimbursement of the time spent by genetic counselors, primary care providers, or other practitioners to explain the testing and results to patients. Laboratories also face reimbursement chal lenges as reimbursement rates for genetic testing are often low.
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From page 57... ...
Management of patients with identified genetic risks has become increasingly complex and, she said, "There is not a one-size-fits-all approach." Patient Genetic Knowledge and Testing Venues Patients can receive genetic test results that indicate an increased risk for cancer in a variety of care delivery settings, Maxwell said, and it is important to recognize that the level of knowledge the patient comes away with varies with the setting. In a traditional genetic testing setting for cancer risk, patients receive pretest counseling, relevant tests are ordered, and results are explained in posttest counseling.
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From page 58... ...
For example, Maxwell said that a woman who is a BRCA mutation carrier, but who is otherwise healthy, might continue to have breast cancer screenings across her lifetime but would also be considered for surgical interventions such as risk-reducing salpingo-oophorectomy between ages 35 and 45. Preimplantation genetic diagnosis would be relevant for persons of childbearing potential with known genetic cancer risks.
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From page 59... ...
Telemedicine can be used for both pretest counseling and posttest review of results, Kaul said, though the training pipeline of genetic counselors will need attention. Direct-to-Consumer Genetic Testing Direct-to-consumer genetic testing is extremely popular, Irons said, and people are presenting at their primary care practice with concerning results in hand (e.g., a cancer gene mutation)
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From page 60... ...
By Monday she was extremely anxious, but her physician referred her to a genetic counselor who was able to give her information about her results. Engaging Google and health systems could be one strategy for ensuring that helpful information about genetic testing -- and what to do when you get your results -- is available to people searching for it online, Irons suggested.
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From page 61... ...
A look back at the history of genetic research shows that much of it was not conducted with diversity goals in mind, he said, and the clinical studies done were often not representative of the population. As a result, variants of significance for different populations, especially minority populations, are not known, and many of the genetic tests on the market are therefore not broadly applicable.
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From page 62... ...
She suggested that natural language processing and artificial intelligence technologies could be used to extract data in PDFs and integrate it directly into the EHR in a format that could facilitate sharing across systems. Opportunities for Incorporating Genomics in Clinical Care Panelists and members of the roundtable suggested a variety of actions that could help promote the adoption of genomics in health care and precision medicine.
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From page 63... ...
Sheets decades ago to advise clinicians on immediate actions to take when a genetic condition is identified through newborn screening.8 ACT Sheets are also now available for genomic findings from other types of genetic testing. She sug gested that this type of model could be adapted to cover incidental findings patients receive from direct-to-consumer products or other genetic tests.
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