Pharmacology can reduce the burden on doctors to treat patients with rare diseases

During the pandemic, physician burnout rates soared to 62.8% in 2021. As these numbers have dropped below 50%, the reasons vary. Despite the reduction in burnout, many doctors still report pressure on administrative responsibilities and a shortage of physicians in the organization, both of which hinder their work with patients.

Furthermore, a recent Mayo Clinic study noted that physician burnout rates remain shocking compared to workers in other fields, attracting attention. From workshops to conferences, the field is looking for opportunities to better support doctors so that they can provide quality care to the patients they serve. According to the American Medical College Association, the solution is soon important, and by 2036, the U.S. is expected to have a deficit of 86,000 people by 2036. Although the need for more doctors can affect various medical fields, it has specific effects on rare diseases.

Rare doctor challenge

Doctors serving patients with rare diseases — only 30 million patients in the United States alone — need not only accurate diagnosis, but also choose a viable treatment for everyone. Despite the hard work of the doctor, patients with rare diseases often wait 4-5 years for proper diagnosis. Even with 7,000 known molecular causes of rare diseases, there are only about 500 approved treatments. This lack of viable treatments presents further burdens for rare disease physicians, requiring additional effort to design potential treatment plans and plan the most feasible path.

Pharmacology supports treatment of rare diseases

With any prognosis, pharmacogenomics can accurately select the patient's treatment based on the patient's unique genomic characteristics. Utilizing the genomic profile of this patient can not only help with drug selection, but also the dose and regimen that is most likely to be successful.

In the case of rare diseases, the benefits of the doctor and the patient are particularly applicable. Once patients have been waiting for so many years to receive a diagnosis, they need to find a drug that can work. Unfortunately, trials and errors that test different medications and dosing regimens often drag out their health. Pharmacological genomic analysis can shorten this timeline, thus providing rare disease physicians with the opportunity to uniquely select treatment based on the patient's genomic characteristics. There are growing genomic platforms in place to support rare physicians doing so. However, not all tools offer the same benefits.

Select a genome tool for rare diseases

Doctors have several options when purchasing tools to support the development of a treatment plan for rare diseases. Doctors can benefit from considering each key factor:

1. speed: Consider which speed is best for practical application in practice. For example, some drug genome analysis tools can quickly perform 25 minutes of analysis, thereby shortening the timeline from test to results.
2. accuracy: Although none of the error rate is zero, some drug genomic tools provide more accurate recommendations for drugs and doses, including those to avoid. Physicians can choose pharmacogenomics tools with up to 97% consistency and validate them with 1,000 genomic projects, ensuring high confidence in the results.
3. Comprehensive: They analyze which genes have a range of tools and more complete genes that can provide improved health outcomes. The more pharmacogenomics analyses include an 86-gene panel covering 22 guide genes from CPIC (A, A/B, B, B, B/C), FDA and DPWG, as well as panels tailored for primary care, psychiatry, pain, pain management, and cardiology. It is worth noting that over 95% of patients have at least one drug-gene interaction and it is determined that it supports avoiding drug-related prognosis.

By leveraging selected pharmacogenomics tools, doctors can minimize off-target effects of drugs on patients with rare diseases and support improved health outcomes while minimizing unintended consequences of adverse drug reactions or doses. Doctors themselves can also benefit from simplified treatment and outcomes, reducing the burden on physicians from inclusion in treatment schedules and patients are not responding to selected medication regimens.

Photos: ilexx, Getty Images

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