A Novel Approach to Improving Utilization of Laboratory Testing

Area of Science:

• Clinical Chemistry
• Genetics
• Healthcare Management

Background:

• Incorporating best practice guidelines into institutional utilization management is challenging, requiring consideration of local context.
• Laboratorians can leverage clinical data to understand local practices and advocate for appropriate laboratory testing.

Purpose of the Study:

• To develop a novel utilization management approach by integrating international guidelines and institutional practices.
• To establish a reliable system for improving the detection of hereditary hemochromatosis and minimizing unnecessary HFE genetic tests.

Main Methods:

• Focused on HFE genetic testing for hereditary hemochromatosis, a low-penetrance disorder.
• Reviewed international practice guidelines and analyzed 918 HFE tests.
• Compared transferrin saturation levels between newly diagnosed patients and those with nonrisk genotypes.

Main Results:

• Patients with new HFE-related hereditary hemochromatosis diagnoses showed significantly higher transferrin saturation levels (72%) than those without risk genotypes (42%; P < .001).
• A simplified 'one-button' order, restricting HFE genetic tests to patients with transferrin saturation >45%, successfully identified all new hereditary hemochromatosis cases.
• This approach aligns with published guidelines and achieved 100% detection of new hereditary hemochromatosis patients.

Conclusions:

• The proposed algorithm integrates clinical guidelines and local physician practices without increasing workload for clinicians or pathologists.
• This novel utilization management strategy empowers pathologists to lead in enhancing patient care within healthcare systems.
• The system effectively improves diagnostic yield and reduces unnecessary genetic testing for HFE-related hereditary hemochromatosis.