Exploring the Current Landscape of Consumer Genomics Proceedings of a Workshop (2020) / Chapter Skim
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6 How Can Consumer Genomics Be Better Integrated to Improve Health?
6 How Can Consumer Genomics Be Better Integrated to Improve Health?
Pages 57-64
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From page 57... ...
• The volume of data generated by consumer genomics com panies could create incentives for electronic health record companies to develop standards for interoperability and maintenance of genomic data in the context of health care systems. (Feero)
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From page 58... ...
Gone are the days in which a single doctor would take care of a patient and all of that person's health care went through either a local primary care physician or a local hospital, Willard continued. There are individual hospitals, but now consumers are more likely not entering the health care ecosystem through a clinical provider or a clinic.
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From page 59... ...
In particular, he said that he had heard during the workshop that in many ways the system works as it should -- it is safe -- and that there may be ways to enhance the system so that when consumers receive a concerning test result, they will have more support to deal with that result. Nussbaum said his major takeaway from the day was that the system is not at equilibrium because of contradictions that were exposed during the day: • People have a greater thirst for genetic information than is being satisfied by the traditional medical system; • There are logistical barriers to people being able to acquire that information; • If consumers ignore the medical establishment by ordering a test directly from a DTC service and they have a strongly positive test of some sort, they want the medical establishment involved again.
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From page 60... ...
The Centers for Disease Control and Prevention (CDC) has identified three genomic conditions it considers important for health care providers to identify and diagnose in individuals -- hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia.2 Despite this, only 30 percent of women diagnosed with ovarian cancer have been tested for associated mutations, she said.
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From page 61... ...
Bonadies also said that the University of California, San Francisco, now has a clinic dedicated to working with people who have had DTC genomics tests and getting those individuals connected into primary care as well as providing confirmatory tests. Dolan suggested creating more possibilities for pretest counseling as a means of both forming relationships with potential patients and also directing them to the appropriate tests and away from tests that would have no value.
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From page 62... ...
Ferber proposed funding research that would use computer algorithms and artificial intelligence to create automated systems that would perform some of the interpretation functions and help ameliorate some of the workforce issues discussed throughout the day. Along those lines, Wicklund said that research could help answer the question of who can best benefit from seeing a genetic counselor, and Bonadies noted that her team is providing baseline education along with test results so that when people do go see a genetic counselor, they can then drill down on specific questions related to their family history and risk in order to use the appointment time more efficiently.
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From page 63... ...
• Convene stakeholders more deliberately to discuss the impact of DTC genomic tests on the health care system. • Explore facilitating the establishment of partnerships between DTC genomic services and the pharmaceutical industry to improve drug development efforts.
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From page 64... ...
"Because we are engaging directly with these athome genetic testing companies and asking them to tell us really important things about our genetics," she said, "I wish that we had better education and we knew more." The number of individuals who have been introduced to the idea of genetics through DTC testing is substantial, Bonadies said, adding that this is a great opportunity for the field to build bridges back to the traditional medical system and use those data to confirm results and improve overall health.
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