Pharmacogenomics Can Ease Burden On Doctors Treating Patients With Rare Diseases

During the pandemic, physician burnout rates skyrocketed to 62.8% in 2021. Since, those numbers have dropped to below 50%, with varying reasons as to why. Despite the reduction in burnout, many physicians still report stress from administrative duties and a shortage of physicians in their organization, both of which impede their work with patients. 

Further, a recent Mayo Clinic study noted that physician burnout rates remain alarmingly elevated compared to workers in other fields, causing concern. From workshops to conferences, the field is looking for opportunities to better support doctors so they can offer quality care to the patients they serve. Finding solutions soon matters, with a physician deficit in the United States of 86,000 anticipated by 2036, according to the Association of American Medical Colleges. Though the need for more doctors impacts various areas of medicine, it holds specific implications for the field of rare diseases. 

Rare disease challenges for physicians

The physicians who serve rare disease patients – 30 million patients in the United States alone – not only need to diagnose accurately but then also face the hurdle of selecting a viable treatment for each. Despite the doctors’ diligent efforts, patients with rare diseases often wait 4-5 years for a proper diagnosis. Even with the known molecular cause of 7000 rare diseases, approved treatments exist for only around 500 of them. Such a lack of viable treatments places further burden on rare disease doctors, requiring extra effort to design potential treatment plans and curate the most viable path forward. 

Pharmacogenomics supports rare disease treatments

With any prognosis, pharmacogenomics can support physicians with accurately selecting treatments for patients based on the patient’s unique genomic profile. Leveraging that patient’s genomic profile can help select not only a medication, but also a dosage and a protocol, that offers the likeliest chance for success. 

In the case of rare diseases, the benefit to doctors and patients particularly applies. Once patients have waited so many years to receive a diagnosis, they then need to find a medication that will work. Unfortunately, the trial and error of testing different medications and dosing protocols often drags out their path to health even longer. Pharmacogenomic analysis can shorten that timeline, offering the opportunity for rare disease doctors to select a treatment uniquely based on a patient’s genomic profile. Increasingly more pharmacogenomic platforms exist to support rare disease doctors in doing just that. However, not all tools offer the same benefits. 

Selecting genomic tools for rare diseases

When sourcing a tool to support the creation of rare disease treatment plans, physicians have several to choose from. Doctors benefit from considering a few key factors of each: 

1. Speed: Consider what speed works best in practice for practical applications. For example, some pharmacogenomic analysis tools can run analyses as quickly as 25 minutes, shortening the timeline from test to results. 
2. Accuracy: Though none have a zero error rate, some pharmacogenomic tools offer more accurate suggestions for medications and dosages, including which ones to avoid. Physicians can select pharmacogenomic tools with as high as a 97% concordance, validated against the 1000 Genomes Project, ensuring high confidence in results.
3. Comprehensive: Tools range in what genes they analyze, and more complete ones can offer improved health outcomes. The more select pharmacogenomics analyses include an 86-gene panel, covering 22 guideline genes from CPIC (Levels A, A/B, B, B/C), FDA, and DPWG, along with panels tailored for primary care, psychiatry, pain management, and cardiology. Of note, over 95% of patients have at least one drug-gene interaction, and identifying it supports avoiding drug-related outcomes.

By leveraging select pharmacogenomic tools, physicians can minimize off-target effects of medications for their rare disease patients and support improved health outcomes while minimizing unintended consequences from adverse drug reactions or dosages. Doctors themselves stand to benefit, too, through streamlined treatments and outcomes, alleviating some of the burden on physicians that comes from drawn out treatment timelines and patients being unresponsive to selected medication protocols.

Photo: iLexx, Getty Images

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