Q and A With Scott Whyte

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Catholic Healthcare West

A VP of IT at Catholic Healthcare West explains the impact that clinical genomicscould have on electronic records.

Healthcare Technology: You are a leader in the clinical genomics space. Can you tell us a little bit about your work with genomics?

Scott Whyte: A few years ago, I became interested in the topic of genomics and its ultimate impact on clinical information systems (CIS). I had heard one of the leading researchers with the National Institute of Health, Jeffrey Trent, comment that one of the biggest challenges was the exchange of genomic information. Independent researchers would work on sequence and profiling information but it was difficult to share that information electronically with others without human intervention to reconfigure the information before it got loaded into another database. He said that, to a certain degree, this slowed down research collaboration and progress.

Although I’m not a researcher, I predicted we would have a more significant problem when it ultimately came to patient care. We are now moving from bench research to translational research, where researchers are looking at specific drug therapies or diagnostic techniques; some of which are in place and being used by doctors and hospitals.

Today the volume of these therapies is relatively low, but as the volume builds, we need to be able to exchange genomic information from one machine to another without having a human intervene. I have a background on solving these types of problems, so I volunteered with Health Level 7 (HL7), which is an international standards organization. They had not yet begun work in genomics, so I helped form the team, and I’m currently a co-chair of the Special Interest Group on Clinical Genomics.

HCT: Can you explain the connection between EMRs and clinical genomics?

SW: Today most of the genomic-related information is not stored in an electronic medical record (EMR) at all, and if it is stored, it’s stored in a text-based note. There aren’t discrete data fields that can be sorted and queried or reported upon.

So if you think about a routine lab test, a blood chemistry, for example, those values come back from a lab instrument into a laboratory information system and then through an interface over to the main EMR. When the results get to the EMR, they’re stored in very discrete values — there are numeric measurements for the glucose, calcium, electrolytes, etc. Each of those is stored as a value in a little bucket within the EMR. As a result, you can graph that information and trend it, and you can sort across patients and do all kinds of work it information. Quantitative information is much more valuable to the clinician. Since the genomic information now currently comes in as text, you can’t do any searching, graphing or comparison between patients or for a given patient over time.

There’s very little use of genomic information within the EMR today. There are very few exceptions where more leading-edge institutions are building discrete attributes in which to store genomic information. The Mayo Clinic is one, for instance. The Marshfield Clinic in Wisconsin is also doing this. So there are some institutions that are starting to integrate genomic information into the EMR.

HCT: What are some of the security and privacy concerns.? What kind of barriers are we encountering?

SW: Well, the security and privacy concerns are essentially the same areas of concern for all other healthcare information. Federal regulations, such as HIPAA, are mandating privacy and security standards and compliance with those standards. However, the genomic area is of particular concern because of the predictive nature of the information. You can predict that there’s a higher likelihood for a particular disease to occur prior to it occurring. And a patient may have the concern that if an insurer knew future likelihood of disease based upon genomic information that the insurer might make his/her policy either more expensive or effectively make them uninsurable. You can start to extrapolate other implications there as well; for example, relating to employability. The areas of concern are the same for all health information. The degree of the concern, and sensitivity related to privacy is just much higher for genomic information.

I personally think that we will overcome the security and privacy issues.We have exposures today that are still of great concern that we are addressing with technology, laws and prosecution. I also think there’s a certain scientific humility as we learn more about the genomics.We learn about the value of genomics and also learn more about the limits of the meaning of the genomic information. For instance, certain gene markers tell us disease likelihood, but there absolutely are behavioral and environmental factors that affect the disease. So while you may have a particular single nucleotide polymorphisms (SNPs), it is not a foregone conclusion that you’re going to get breast cancer or some other disease.

The value of genomics in medicine will outweigh privacy concerns. Today breast cancer and the BRCA1 and BRCA2 genes are talked about the most. In addition, there’s work with other cancers, diabetes, heart disease and obesity; there are many other research and development efforts related to predisposition. But much of the work goes beyond predispositions to evaluating which particular therapy is effective on the person. There’s significant work being done on pharmacogenomics, which doesn’t predict your ability to acquire the disease but assists in the development and predicts the effectiveness of a particular drug.

HCT: What’s on the horizon for EMRs and clinical genomics in the next five to seven years?

SW: I would say within a year or two we will see a number of pilots of genomic information in EMRs. There’s will still be an early adopter phase,maybe in three to five years. Ultimately I do see that the information will be more routinely stored in the EMR. And there’s a question about what that means. Initially only very small fragments of information about a person’s genome will be stored — only the fragments that result from testing for specific conditions. Those test results, identifying the presence of a particular SNP or mutation for example, will be placed in the EMR. Your whole genome sequence will not be in the EMR — at least not initially. I think that’ll be a long way off. As the volume of information increases, security and storage issues become much more significant.

We still wrestle with the issue that there is not a common vocabulary in the clinical setting and I think that’s really the biggest barrier.We need a common vocabulary to describe the whole topic of clinical genomics and all the various pieces and parts. There aren’t universally accepted terms for genomic components and how they interact with each other from a care delivery perspective. Until that common vocabulary is better defined, it’s going to be harder for widespread adoption to occur. So it’s really more of a clinical issue or medical terminology issue than it is a computer issue. Right now the advances are so rapid, there are billions of dollars being invested worldwide by government entities and by pharmaceutical companies. The knowledge is growing at an incredible pace. The method to categorize and agree on the meaning of those findings is not keeping pace with the progress. There is no shortage of challenges and opportunities to including genomic information in the EMR.