Exploring the Current Landscape of Consumer Genomics Proceedings of a Workshop (2020) / Chapter Skim
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4 Integration Within Scientific and Medical Communities
4 Integration Within Scientific and Medical Communities
Pages 33-44
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From page 33... ...
• Increase coverage of and access to genetic counseling by inde pendently licensing and paying genetic counselors in each state. (Dolan)
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From page 34... ...
The workshop's third session, moderated by Bruce Blumberg, a professor of clinical science and a planning co-lead of faculty development at the Kaiser Permanente School of Medicine, discussed factors that may affect how consumer genomics data are integrated into clinical care. The session's four panelists also examined the challenges of and opportunities for using consumer genomics data for research and explored emerging cross-sector collaborations and potential lessons to learn.
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From page 35... ...
In this project, individuals with Parkinson's disease can upload reams of information about themselves to the Fox Insight web portal, including their electronic health records, diaries of daily activities, and genomic test results from 23andMe.1 The patients' data belong to the individuals, but they are also available for researchers to use. "This is a neat research idea, and one that I am surprised has not been used more often," Singleton said.
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From page 36... ...
Prenatal genetic testing can provide expectant parents with a great deal of information, including aneuploidy diagnosis and carrier status, Dolan noted, but she added that what many patients are really interested in is the sex of their child. The gender reveal phenomenon,3 she said, creates a complicated paradigm for clinical care because the person taking the test often does not want to receive the results personally and because expecting parents want the results early in order to plan their gender reveal party.
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From page 37... ...
In other cases, she sees individuals diagnosed with breast or ovarian cancer who have a strong family history of those cancers and regrets the missed opportunity to find those individuals early, before they developed cancer. Obtaining important information from family members can be further complicated by the challenges in finding and accessing old test results and family health history information.
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From page 38... ...
A major question is how to integrate the data from DTC testing into the medical model so that an individual's providers can access the data and help the individual understand what the data mean. One path, Bonadies said, could be through verification testing, where the verified results are integrated into the electronic health record.
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From page 39... ...
Several insurers, including Blue Shield of California, Anthem, and Aetna, now cover verification testing, particularly for the BRCA genes, Bonadies said. There are also research-grade testing options available through academic medical centers.
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From page 40... ...
Ferber said that when he first became a clinical laboratory director, he felt that genomics fell strictly in the medical sphere and that consumers might not understand the information received directly or that it might not be beneficial for them. Over the years, he said, his views have changed, and he now believes that DTC genomic testing creates an opportunity for people to talk about things that are important for their health, engage with their providers, and have meaningful conversations about genetics and genomics.
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From page 41... ...
DISCUSSION Facilitators and Barriers to Integration To start the discussion, panelists discussed impediments and facilitators of consumer genomics integration, ranging from including genomic sequencing results in electronic health records to the cost of and reimbursement for genomic sequencing. It is important, Singleton said, to consider the day in the near future when whole-genome sequencing will be inexpensive enough that everyone would be sequenced at birth and that information becomes part of their medical records.
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From page 42... ...
-approved laboratories, Bonadies replied, but she said that, as a genetic counselor, she would always repeat a DTC test in a medical grade laboratory to confirm a result. Drawing on her earlier presentation about variance between the data returned from the DTC genomic testing companies and medical grade laboratories, she said that the discrepancies occurred on both the level of variant interpretation and the interpretation of the raw sequencing data.
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From page 43... ...
My Gene Counsel has developed a living lab report, Bonadies added, which includes the ability to re-contact patients in order to connect them with new clinical trials as the knowledge about gene associations changes over time. The new living lab report model allows her company to connect with patients and their providers about specific genes and variants, which means that the patients do not have to sort through extra information that may not apply to them.
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