Understanding Disparities in Access to Genomic Medicine Proceedings of a Workshop (2018) / Chapter Skim
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1 Introduction and Overview
1 Introduction and Overview
Pages 1-10
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However, as with the introduction of new technologies into health care, there are concerns that genetic and genomic testing and services will not reach all segments of the population both now and in the near future, and there remains a gap in knowledge regarding potential health care disparities2 in genomic medicine and precision health approaches, said Cathy Wicklund, a workshop co-chair, the director of the graduate program in genetic counsel 1 This workshop was organized by an independent planning committee whose role was limited to the identification of topics and speakers. This Proceedings of a Workshop was prepared by the rapporteurs as a factual summary of the presentations and discussion that took place at the workshop.
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. On June 27, 2018, the Roundtable on Genomics and Precision Health hosted a public workshop to examine the gaps in knowledge related to access to genomic medicine and to discuss health care disparities and possible approaches to overcoming the disparate use of genomic medicine among populations.3 Workshop topics included research on access to genetic and genomic services in medically underserved areas, model programs of care for diverse patient populations, and current challenges and possible best practices for alleviating health care disparities as they relate to genomicsbased approaches.
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The workshop planning committee decided to focus the day's discussions on exploring gaps in knowledge about health care disparities among these different populations, illuminating the challenges, and identifying possible ways to address those disparities and move the field forward instead of focusing on challenges related to research. The planning committee recognized that there is a lack of genomic data on ancestrally diverse populations in existing databases, Wicklund said, and that this creates major challenges for interpreting genetic test results.
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#GenomicsDisparities public health agencies. Twitter chat participants also suggested that partnerships among health care systems, community-based organizations, and community health workers could lead to better access to genomic services, as would efforts to increase health literacy.
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Similarly, a genomic test called Oncotype Dx looks for mutations in an array of 21 genes involved in estrogen receptor-positive breast cancer, with the results predicting the aggressiveness of a cancer and serving as a treatment-guiding profile. "We are now using genomics to actually determine how someone should be treated for lung cancer, breast cancer, and other diseases," Brawley said.
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Some individuals consume too many of its resources -- which can result in inefficiencies and sometimes even adverse effects -- while others consume too few resources, which can lead to disparities in outcomes and overall health. Specifically, one issue with an inefficient health care system is that individuals who have poor access to health care tend to have worse clinical outcomes, and some may even die as a result of receiving no care or poorquality care, Brawley said.
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The sickle cell trait, for example, is a disease of people of Mediterranean and sub-Saharan African origin, even though many think of it as a disease that affects blacks. Similarly, cystic fibrosis mutations occur in people of Northern European origin, while alcohol dehydrogenase deficiency tends to occur in people of East Asian origin.
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"This is an ethical issue because a clinical trial involves putting people at risk," he explained, "so you are going to put more of the minority population at risk to get a valid subset analysis." One example of how subset analysis can produce misleading results is the analysis of the data from the original randomized controlled clinical trial of tamoxifen. Though tamoxifen is one of the most effective drugs for treating breast cancer, Brawley said that a subset analysis of those original data would have concluded that tamoxifen does not work nearly as well in African American women as it does in white women.
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INTRODUCTION AND OVERVIEW 9 equitable health care system in the United States, he said, will first require getting Americans to realize that there are large groups of people being left behind in terms of their medical care. "Until we change that, we are not going to change the health equity problem," Brawley said.
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