Dark Daily recently posted an article about how genetic testing results were being integrated into the EHRs of two major health systems and made more accessible for primary care (see: Genetic Testing as Part of Primary Care and Precision Medicine is Underway at NorthShore University HealthSystem and Geisinger Health). Below is an excerpt from the article:
Clinical laboratories and pathology groups face a big challenge in how to get appropriate genetic and molecular data into electronic health record (EHR) systems in ways that are helpful for physicians. Precision medicine faces many barriers and this is one of the biggest. Aside from the sheer enormity of the data, there’s the question of making it useful and accessible for patient care. Thus, when two major healthcare systems resolve to accomplish this with their EHRs, laboratory managers and pathologists should take notice. NorthShore University HealthSystem in Illinois and Geisinger Health System in Pennsylvania and New Jersey are working to make genetic testing part of primary care. And both reached similar conclusions regarding the best way for primary care physicians to make use of the information. One area of common interest is pharmacogenomics. At NorthShore, two genetic testing programs—MedClueRx and the Genetic and Wellness Assessment—provide doctors with more information about how their patients metabolize certain drugs and whether or not their medical and family histories suggest they need further, more specific genetic testing.
The article indicates that the goal for integrating genomic test results into the EHR is to make them more useful and accessible for test-ordering clinicians. It goes on to cite the practical example of using them for pharmacogenomic studies. I agree with the conclusions in the article but want to make one more additional point. We are entering the era when we need to view genomic test results as perpetual. This is to say that such results must be stored and readily accessible in perpetuity is based on the fact that they are relevant and useful on a continuing basis. Compare them with other lab tests like a CBC that may change on a day-to-day basis. We store such results as part of the medical record but most are of little subsequent value in terms of diagnosis or treatment.
Part of the continuing value of genomic test results is that they can aid us in predicting the onset of various diseases for which a patient may be genetically predisposed. About a decade ago in a blog note, I suggested that we were entering an era in which patients could be diagnosed with (1) a predisposition to a disease; (2) a diagnosed pre-disease; and (3) an acute and chronic disease (see: Predisposition to Disease and Pre-Disease on the Health Continuum). At that time, I also suggested that the notion of treating patients in these first two categories was uncertain. This is also true today when the description of pre-disease continues to be rather fuzzy. What is certain is that genomic test results will be very important in diagnosing all of these three disease states. As noted in previous notes, progress in predictive analytics using algorithms continues in parallel to research on the genetic basis for disease so that even minor variations in a set of routine lab tests can be used to indicate that a patient will develop a particular disease (see: Successfully Screening for Lung Cancer Based on Predictive Analytics; Much of the Future for Pathology and Lab Medicine Rests with Analytics; Big Tech Is Knocking on Hospital Doors; It's All About the Data).
This idea of the perpetual value of genomic test results suggests to me that hospital labs, in concert with patients' physicians, are on the verge of creating a new type of relationship with patients. It will be based on the proposition that patients can be notified by a clinical lab about their predisposition to a disease or a specific pre-disease. This will occur on the basis of new genomic research or the deployment of newly released predictive algorithm in the lab. To restate the obvious, such notifications will never occur without the permission of the patient and responsible clinician. To state all of this is another way, labs may be generating reports to patients and their physicians predicting a pre-disease absent any new test orders.