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Getting ‘Genomed’ and the Dichotomy of Personal Health Information Security

by
Carri-Lyn Mead
| Jun 05, 2013

UYG blog2If you watch the Understand Your Genome highlight reel, you will hear Dr. Eric Topol coin a new verb – getting ‘genomed’, and that in the context of the Understand Your Genome events it could have two meanings. The first is obvious– the act of getting your genome sequenced. The second meaning reflects that the attendees come to the event for ‘genome ed[ucation]’. But we don’t want the education and experience to be limited to the event itself. One way to start conversations in the community about clinical next generation sequencing is through this series of blog posts. While the content will generally refer back to what we discuss at the Understand Your Genome events, I’m hoping that we can go into a little more detail about some of the interesting and relevant topics related to clinical next-generation sequencing.

One of the aspects of being a clinical lab, regardless of whether you are doing next-generation sequencing or not, is putting processes and safeguards in place to make sure that patient data is protected.  On an ongoing basis, we in the Illumina Clinical Services Laboratory discuss how to improve the security and privacy of the information flowing through our lab and how we can return this information to physicians and patients with the highest degree of quality, integrity, and security. Any Illumina staff who are part of, or who interface with the Illumina Clinical Services Laboratory are HIPAA trained to appropriately handle situations where they are exposed to personal health information.

The first thing we do when a sample arrives in our laboratory with its requisition paperwork is accession the sample. This means that we put the personal health information into a secure database and associate that information with a patient record number. From that point forward, that sample processing is all done in the context of the patient record number. People who are in the lab processing samples or running our informatics pipelines relate the samples they are processing to that patient record number only. The personal health identification information is only brought back into the process during report generation.

One of the fascinating aspects of the Understand Your Genome event is watching how people deal with their whole genome information once it is returned to them. For the first Understand Your Genome event in 2012, we put extra measures in place to ensure people could maintain some semblance of privacy if they wanted to review their whole genome sequencing results at the event. What we found is that we are far more concerned about this than our attendees. Most of the attendees want to share their information in person, and huddled together around each other’s reports and iPads to discuss what information was returned. Given the amount of effort we take to keep personal information and test results secure, it was interesting to note that people aren’t overly concerned about keeping their personal genome information private (for the most part). In fact, it is quite the opposite, the attendees at these events want to share and discuss the results and content, and debate about various aspects of the report.

I personally find this dichotomy very encouraging. Of course it is important that we work as hard as possible to maintain the security of private information, but it is surely a positive sign that the community of people attending  these events are so engaged and interested, and that they are open with their information. This kind of openness enables better discussion and learning, both by the attendees, and by us. A big part of what we take away from the Understand Your Genome events is how well we are communicating our clinical results and what information people are interested in learning about or what they find the most interesting. The better we are able to help clinicians understand the results being delivered, the more impact these results can have on patient care. 

But what if there is information that you don’t want to receive back? Perhaps you want to know if there is a genetic aspect to the hearing loss that seems to run in your family, but you don’t want to know if you are predisposed to amyotrophic lateral sclerosis (ALS), a debilitating muscle wasting disease with limited treatment options. Consenting appropriately is an important aspect of the pre-test process, and that will be the topic of my next post.

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