What should the ordinary clinician keep in mind about normality when reviewing a patient’s labs? “Try to understand what each claimed abnormality means, and whether it deserves any action,” says Dr. Ioannidis.
Big data culled from electronic health records (EHRs) and insurance claims may provide some solutions to these challenges, they write. If longitudinal outcomes data can be reliably linked at the individual level, researchers could test the clinical importance of differences in reference intervals. Shared databases may allow researchers to analyze across big data sets and account for the scale of multiple testing. Definitions of normal reference ranges for common test results could be customized based on the individual patient’s age, race and other attributes, and a physician could access this information through the EHR right at the point of care. Genetic ancestry data, which is becoming more easily available, could be paired with this data as well, they write.
More diverse patient representation in All of Us will generate big data that leads to more refined, precise care for patients with rheumatic diseases, says Dr. Karlson. She and the co-authors of the new paper share a vision of genomic data analyses being delivered to the treating physician at the point of care.
“As we look at markers in patients’ blood, we will have better reference ranges and know how to more accurately interpret them,” she says. “Care will be more customized. We will consider the person’s age or sex, and ask, ‘Is the ANA [anti-nuclear antibody] cutoff different for women than men, or does it vary by race and ethnicity? You may know the answer to that question in your mind, but it has not been part of the EHR report. This way, a physician doesn’t need vast knowledge of every test. This data could be customized for every patient. I don’t necessarily see that we’re ready to do that for genetic data now, but in the future, every patient could be genotyped.”
Genetic risk scores for various conditions could be used to manage care and screenings years before active disease develops, she says.
When All of Us New England was developed, “we had that exact same question of ‘What is normal?’” says Dr. Karlson. “We need to think about terms like ‘resilience’ instead, and maybe come up with a new term instead of a word like ‘normal.’ We need to learn what makes certain people resilient to developing chronic diseases in their life.”
