Abstract
BackgroundGenetic testing is increasingly used as a tool throughout the health care system. In 2011 the number of clinically available genetic tests is approaching 2,000, and wide variation exists between these tests in their sensitivity, specificity, and clinical implications, as well as the potential for discrimination based on the results.DiscussionAs health care systems increasingly implement electronic medical record systems (EMRs) they must carefully consider how to use information from this wide spectrum of genetic tests, with whom to share information, and how to provide decision support for clinicians to properly interpret the information. Although some characteristics of genetic tests overlap with other medical test results, there are reasons to make genetic test results widely available to health care providers and counterbalancing reasons to restrict access to these test results to honor patient preferences, and avoid distracting or confusing clinicians with irrelevant but complex information. Electronic medical records can facilitate and provide reasonable restrictions on access to genetic test results and deliver education and decision support tools to guide appropriate interpretation and use.SummaryThis paper will serve to review some of the key characteristics of genetic tests as they relate to design of access control and decision support of genetic test information in the EMR, emphasizing the clear need for health information technology (HIT) to be part of optimal implementation of genetic medicine, and the importance of understanding key characteristics of genetic tests when designing HIT applications.
Highlights
Genetic testing is increasingly used as a tool throughout the health care system
Summary: This paper will serve to review some of the key characteristics of genetic tests as they relate to design of access control and decision support of genetic test information in the electronic medical record (EMR), emphasizing the clear need for health information technology (HIT) to be part of optimal implementation of genetic medicine, and the importance of understanding key characteristics of genetic tests when designing HIT applications
A strength of electronic medical record (EMR) systems is that they provide a mechanism to store and organize patient health information and provide the ability to filter health information based on clinical utility or relevance to individual clinical specialties, provide education and clinical decision support, and implement patient preferences around access to health information
Summary
Dimensions of genetic test results relevant to EMR systems A. While few instances of pre-symptomatic genetic discrimination have been documented, the fear of such discrimination led to the federal implementation of the Genetic Information Nondiscrimination Act (GINA) of 2008 [5,6] and other state laws that provide specific genetic privacy protections For sensitive conditions such as certain cancers or dementias, patients may not wish others to know about their condition or their risk of developing the condition; these concerns are not different from the issues that arise with other potentially stigmatizing medical information (such as sexually transmitted diseases, HIV, mental health conditions, and learning disabilities). Resources that provide more in-depth background on genetic conditions and clinically available testing include: the Gene Tests Web site http://www.geneclinics.org or http://www.genetests. org; OMIM: Online Mendelian Inheritance in Man http://www.ncbi.nlm.nih.gov/omim//; Genetics Home Reference http://ghr.nlm.nih.gov/; and others described in Uhlmann and Guttmacher [18]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
