First Responder to Genomic Information: A Guide for Primary Care Providers
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REVIEW ARTICLE
First Responder to Genomic Information: A Guide for Primary Care Providers Susanne B. Haga1
© Springer Nature Switzerland AG 2019
Abstract With rapid advances in genetics and genomics, the commercialization and access to new applications has become more widespread and omnipresent throughout biomedical research. Thus, increasingly, more patients will have personal genomic information they may share with primary care providers (PCPs) to better understand the clinical significance of the data. To be able to respond to patient inquiries about genomic data, variant interpretation, disease risk, and other issues, PCPs will need to be able to increase or refresh their awareness about genetics and genomics, and identify reliable resources to use or refer patients. While provider educational efforts have increased, with the rapid advances in the field, ongoing efforts will be needed to prepare PCPs to manage patient needs, integrate results into care, and refer as indicated.
Key Points
1 Introduction
Primary care providers will increasingly face clinical situations warranting consideration of genetic testing or integration of test results into care.
The scope and accessibility to genetic information is changing rapidly in response to advances in genome sciences and medicine. While not all clinical genomic applications have yet to demonstrate the desired evidence basis of clinical utility and cost effectiveness [1], many of these tests are increasingly being used in various clinical settings. Furthermore, patients may obtain their genetic information through direct-to-consumer (DTC) testing companies or through participation in a research study. It has been recognized that the successful implementation of genetics and genomics in healthcare will require the participation of non-geneticist specialists [2]. Indeed, primary care providers (PCP) will play a central role in helping patients understand genomic information as PCPs will likely be the first point of contact for patients wanting to understand more about the clinical significance of genomic information [3–6]. Thus, even though they may not have ordered the test, PCPs will need to be prepared to respond to patient inquiries, review test results, direct them to accurate and reliable resources, or refer to specialists as warranted. For more than a few decades, papers have repeatedly reported the lack of provider knowledge of genetics and related clinical applications, even within their area of practice [4, 7–9]. Strategies to raise PCPs’ awareness will depend on continuing education, development of resources for providers and patients, and potentially more resources regarding clinical interpretation and evidence basis of genomic test results [10].
One of the major barriers to the appropriate integration of genetics and genomics into general practice is the limited training of non-geneticist providers and the rapidly changing genetics and genomics applications that require ongoing training. Many genetics and genomics competencies have been develope
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