Introduction

Every year the number of healthcare providers offering genetic testing services grows, including hospitals, private practices, academic medical centers, direct-to-consumer commercial companies, and other organizations. Currently, there are no widely accepted standards for defining what constitutes a “unique genetic test”. The lack of an ID for each unique genetic test raises the possibility of confusion among clinicians ordering tests and laboratories reporting them.

What is Needed

When using genetic testing for patient care, it is critical that all ordering clinicians and laboratories use the same standard to ensure accurate information exchange. This would then support the ability to report on the performance characteristics of each test in a consistent manner. The most logical conclusion here is to adopt a standard that uses a single identification code for each uniquely offered genetic test. This test coding standard is critical not only for improving genetic testing accuracy and efficiency, but also for improving the ability to perform clinical utility analyses for each test over time.

My Experience

Looking back more than 15 years, I was trying to perform utilization analyses on genetic testing for my employer, a large integrated healthcare system. The problem was that our lab results database used either generic or high-level codes for all of the genetic tests. Most tests were coded as “MSO” (miscellaneous send-outs), while others had high-level codes like “CFMUT” for any cystic fibrosis mutation test or “FRXDNA” for any Fragile X Syndrome test.

There are over 175,000 genetic testing products, ranging from single gene mutation tests and microarrays to multi-gene to whole exome and whole genome assays. We could not determine the clinical effectiveness of each test because we could not clearly differentiate between them. Compounding this issue was the fact that ICD-10-CM codes do not exist for many genetic mutations that are deleterious for the disease.

Laboratory issues and data standardization

Labs create similar but distinct tests as they compete for customers. Even among similar tests, differences in meta-data, read quality, bioinformatics approach, test methodology, and reference sequences used for interpretation contribute to the uniqueness of each test.

Data standardization is important because it eliminates the possibility of confusion among clinicians, laboratories, and patients when ordering tests. In the absence of a standardized method for identifying genetic tests offered by a laboratory, clinicians may use terminology other than that used by the lab to prescribe them. Laboratories frequently have multiple processes for identifying each genetic test offered, depending on how they want their customers (clinicians) or other stakeholders (patients) to interact with that information.

Solving the issue for all stakeholders (doctors, patients, EHR systems, labs, payors)

Here are some of the cross-stakeholder issues that the adoption of the GTU identifier would solve:

• The ability to search and compare similar tests from different labs, and determine if the test is clinically appropriate for the patient.
• A unique genetic test ID, when linked to details about the test, would be key to developing advanced genetics-based clinical decision support (CDS).
• Help healthcare providers navigate ordering and understand the significant differences in genetic test coverage between health plans.
• Help standardize pre-auth and billing policies for genetic testing among the various health insurance plans.
• Advance the quality and volume of genetic test assessments and medical necessity policies.