November 10-15

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ACR Convergence 2023

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Home // Genetics researcher to demystify direct-to-consumer DNA tests

Genetics researcher to demystify direct-to-consumer DNA tests


3 minutes

Timothy B. Niewold, MD
Timothy B. Niewold, MD

The rising popularity of at-home genetic tests has spurred new questions from patients, who are turning to their medical providers for help interpreting the DNA analysis.

During an ACR/ARHP combined session titled My Chromosomes & Me: Talk to Patients About Consumer Genetic Tests, Timothy B. Niewold, MD, Professor of Medicine and Director of the Colton Center for Autoimmunity at New York University, Langone Health, New York, NY, said he hopes to provide useful insights to help clinicians answer common patient questions about personal genetic information.

This clinical practice symposium will take place from 1:00 – 2:00 pm on Tuesday in Room W375c.

Dr. Niewold said many clinicians are uncomfortable discussing genetic data during patient encounters.

“Most physicians are not very familiar with these tests,” he said. “Genetics has moved along fairly quickly. Depending on when you trained, what you learned in medical school may be fairly different than what’s known today. Patients expect doctors to know what to do with this information, but that’s not necessarily the case.”

To help clinicians become more comfortable in these encounters, Dr. Niewold will review current direct-to-consumer genetic testing kits and the reports that patients receive. He will discuss what these genetic tests cover and how that information relates to disease risk and clinical outcomes.

Following a brief review of the state of genetics for clinicians in autoimmune disease, Dr. Niewold will look at what can be tested and the predictive value of consumer tests.

“In general, there is still a lot of work to do before we can predict a lot of our common rheumatic diseases,” he said. “The genetic tests currently available can’t predict risk of rheumatoid arthritis or lupus, for example, with any high degree of accuracy. Some of the reports in the past used to comment on this area, but the science is really not at the stage that you can say anything meaningful about disease risk for many conditions.”

Companies have become more careful about what they can say definitively, but it’s still important to understand what information is provided to patients. Dr. Niewold said he’ll show clinicians how to interpret genetic reports from the perspective of rheumatology and rheumatic disease and how to field questions.

“There are three big questions patients have,” he said. “What does this mean for my risk? Does this change how you think about my condition? What about my kids’ risk?

“I think in some ways clinicians and patients can be reassured if you remind them that family history is still as predictive as anything else we’ve got in most cases. Some of the old-fashioned tools are still very useful, and it’s good to let patients know that.”

However, there are few rheumatic conditions that can be accurately predicted via genetic testing.

“There are some single-gene conditions that have been well-documented through genetic testing,” he said. “When those appear on genetic testing reports, there are steps we can take, such as further clinical lab work, for these patients.”

Finally, Dr. Niewold will look at what these reports can tell patients — and providers — about ancestral background, and what that background may mean for disease risk.

“From the perspective of human genetics, ancestral background is one of the things that can be fairly well determined by your genetic makeup,” he said. “Genetic testing is a bit of a double-edged sword for medical providers. We want more personalized medicine, but the field is moving so fast it’s hard to keep up. I hope to demystify these tests and give clinicians a better comfort level with interpreting the results.”