Medical policy determinations for pharmacogenetic tests among US health plans

To evaluate medical policy determinations for pharmacogenetic (PGx) testing for 65 clinically relevant drug-gene pairs and evidence cited to support determinations across major US health plans and laboratory benefit managers (LBMs).

Landscape analysis of available PGx medical policies to determine coverage status of certain drug-gene pairs.

PGx medical policies as of February 1, 2024, were ascertained through Policy Reporter for top national insurers, LBMs, and the Palmetto GBA Molecular Diagnostic Services (MolDX) Program, which determines whether a molecular diagnostic test is covered by Medicare. Data elements included date of last policy update, coverage status for each drug-gene pair, and evidence cited for or against coverage. A drug-gene pair was considered covered if the policy indicated that a PGx test was deemed medically necessary and/or meets coverage criteria.

Policies from 8 insurers, 3 LBMs, and MolDX were available and reviewed. MolDX covered all 65 individual drug-gene pairs, followed by Avalon Healthcare Solutions (n = 50) and UnitedHealthcare (n = 45); these 3 also covered multigene panels. Eight policies covered 10 or fewer drug-gene pairs. HLA-B*57:01 testing prior to abacavir initiation and HLA-B*15:02 testing prior to carbamazepine initiation were covered across all policies. Drug-gene pairs with Clinical Pharmacogenetics Implementation Consortium guidelines and/or included in the FDA's Table of Pharmacogenetic Associations Section 1 were more commonly covered. Society guidelines were the most frequently cited evidence (413 times), and cost-effectiveness studies were infrequently cited (43 times).

We found significant variability in medical policy determinations and evidence cited for clinically relevant PGx tests among major US health insurers and LBMs. A collaborative effort between payers and the PGx community to standardize evidence evaluation may lead to more consistent coverage and improve patient access to PGx tests meeting evidence requirements.