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Characterization of Treatment Utilization in a Metabolic Genetics Clinic
Mary Riedy1, Jessica Briggs2, Taosheng Huang2
1Division of Outcomes and Practice Advancement (MR), Department of Pharmacy Practice, School of Pharmacy and Pharmaceutical Sciences, University at Buffalo, Buffalo, NY.
Summary
Treatment for rare metabolic genetic disorders involves significant medication and medical formula use, often requiring prior authorization and specialty pharmacy. Clinical pharmacists can optimize the use of these high-cost therapies.
Area of Science:
- Medical Genetics
- Pharmacology
- Rare Diseases
Background:
- Treatment plans for rare metabolic genetic disorders are evolving with new FDA-approved therapies.
- Characterizing current medication and medical formula utilization is crucial for optimizing patient care.
Purpose of the Study:
- To describe medication and medical formula utilization in a metabolic genetics clinic.
- To analyze laboratory monitoring, medication acquisition, and associated costs.
Main Methods:
- Retrospective cross-sectional study of 152 patients with confirmed metabolic genetic disorders.
- Manual chart review for diagnoses, medication and medical formula use, and laboratory data.
- Cost estimation using FDA Redbook.
Main Results:
- Phenylketonuria was the most common diagnosis (41.4%).
- 62.7% of medications and 42.9% of medical formulas required prior authorization.
- High annual costs were observed for both medications (> $100,000) and formulas (> $10,000).
Conclusions:
- Most medications necessitate laboratory monitoring, prior authorization, and specialty pharmacy services.
- The study highlights the significant financial and logistical aspects of managing these rare conditions.
- Clinical pharmacists have a key role in ensuring safe and effective high-cost medication use.
