Making transformative care attainable with genomic medicine and informatics [Podcast]

July 6, 2023 |  Physician, Podcast, Transformative Technology, Genomics


At the American Medical Informatics Association (AMIA) National Symposium in Washington D.C. last fall, I served as the moderator to a group of remarkable leaders in genomic medicine. The in-session feedback and post-conference reviews were so overwhelmingly positive that my colleagues and I reassembled for the MEDITECH Podcast to expand on the conversation. We were all thrilled for the opportunity to further the discussion on how genetic medicine is transforming the future of healthcare. 

I was joined by Dr. Anna Dover, Director of Product Management at FDB (First Databank), Pat Rice, Clinical Director of Precision Medicine and Genetics at Frederick Health, and Dr. Ray Lorenz, a specialist in genetic psychopharmacology and the Clinical Laboratory Director of Pharmacogenomics at Quest Diagnostics

Genetics has always influenced medicine; however the deeper understanding of that influence has only recently been appreciated as advances in genomics have only accelerated in recent years. This field of medicine is penetrating every medical specialty, whether physicians and patients fully know its impact yet or not. Events such as the horrific COVID-19 pandemic have further accelerated diagnostic genetic technology in a high throughput manner, and as a result, medical professionals now have the opportunity to utilize genetic testing in a way that would have been unthinkable even twenty years ago. 

Using genetic information when prescribing medication can decrease hospital admissions, ED visits, and ultimately improve a patient’s quality of life. The current medical literature reflects and supports these trends; a very robust study recently published in the February 2023 edition of The Lancet, for example, cited the role that  directed genetic testing of pharmacogenomic mutations in the population would result in a significant decrease in devastating side effects of medications prior to prescribing (JJ Swen, et al, A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomized crossover implementation study 2023 Feb 4;401(10374):347-356). It is impressive how indispensable pharmacogenomics proves to be as it impacts most of the global population. 

I think of the startling fact that ninety-eight percent of us have at least one mutation that impacts the way we metabolize the drugs we are prescribed. I think of the times in my medical education two decades ago when it was accepted that it would take at least 3 trial and error attempts to get an anxiety patient’s therapy correct. This likely could be done correctly today with directed genetic testing. These realizations, frankly, are startling.

As hospitals begin to prioritize a budget for genetic medicine, it has become increasingly important for labs and healthcare organizations to consider partnering with outside organizations like MEDITECH and FDB that offer clinical decision support to interpret genomic information and make patient genetic data easily accessible to providers at the point of care. 

Incorporating the actual laboratory information and mutation information directly into the EHR allows physicians to take better care of their patients and has even shown a potential for significant monetary savings for health systems as it reduces costly trial-and-error prescribing.

At Frederick Health, Pat Rice is working to share their success in genomics, promoting their story to help other organizations understand the challenges and benefits of starting a genomic medicine program. “We’re working towards a more predictive and proactive medicine approach,” says Rice. “And genetics allows all providers to be able to use this information to best treat their patient on a personalized level, which is personalized medicine.”

To learn more about the exceptional advances made in genomic medicine and how they can help your organization deliver transformative and personalized care, tune into the MEDITECH Podcast to listen to the full recording.

Podcast Chapters

Listen to it all, or navigate to a particular part you are interested in.

0:27-1:15 introductions

1:16-4:03 practicing innovative genomics at Frederick Health

4:04-7:34 ensuring physician ease by storing genetic data in the EHR

7:35-9:22 the widespread impact of genomics

9:23-12:22 recap of AMIA panel session

12:23-14:58 pharmacogenomic decision support at First Databank

14:59-17:35 interpreting pharmacogenomic data

17:36-18:40 best practices to protect genetic information

18:41-20:47 looking to the future of genomics

20:48-23:30 genomics beyond prescribing medicine

23:31-25:17 cost considerations

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Written by Marsha Fearing, MD, MPH, MMSc

Marsha Fearing, MD, MPH, MMSc, joined MEDITECH in 2019. She is a practicing physician whose role for MEDITECH is to engage and educate physician and clinical leaders about MEDITECH Expanse, bringing a wide range of experiences from her 26-year medical background to her role. She is a graduate of Harvard Medical School and was an attending physician in Pediatrics and Genetics at Harvard Medical School Hospital Affiliates. Dr. Fearing holds a Masters in Public Health from Tulane University School of Tropical Medicine and served in the United States Army Medical Service Corps’ 101st Airborne Division, traveling throughout the Middle East, Europe, and East Asia.