The incidence of duplicate genetic testing

Area of Science:

• Clinical Laboratory Science
• Pharmacogenetics
• Health Services Research

Background:

• Duplicate genetic testing (DGT) is typically reserved for confirming initial results.
• Understanding the incidence and cost of DGT is crucial for healthcare resource management.

Purpose of the Study:

• To determine the incidence of DGT for TPMT, HFE, and CYP450 2D6 genetic polymorphisms.
• To assess the financial savings achievable by limiting DGT, particularly for HFE testing.

Main Methods:

• Retrospective review of genetic testing records at an academic medical center.
• Analysis of DGT incidence in 2006 and an all-time incidence for a subset of patients.
• Calculation of laboratory charges and estimated savings from a DGT limitation system.

Main Results:

• In 2006, DGT incidence was 3.3% for TPMT, 0.3% for HFE, and 0.9% for CYP450 2D6.
• All-time DGT incidence was 6.9% (TPMT), 1.9% (HFE), and 0.9% (CYP450 2D6).
• A system to limit HFE DGT saved an estimated $77,479 in 2006.

Conclusions:

• Appropriately indicated DGT is rare.
• Implementing systems to limit DGT can lead to substantial cost savings.
• Institutions should consider process improvements to reduce unnecessary DGT.