In the last two decades, the number of commercially available genetic tests is thought to have increased by more than 5,000%—from approximately 1,500 to an estimated 100,000 or more. This number only increases daily as US-based, Clinical Laboratory Improvement Amendments (CLIA)-certified laboratories commercialize new tests through the laboratory-developed test (LDT) pathway. LDTs are specialized tests performed only by certain labs and are regulated by Medicare through CLIA. This pathway, which is largely exempt from FDA premarket review, permits tests to come to market quickly and with little regulatory oversight. 

The LDT pathway can be problematic because it does not require evidence from laboratories to support test claims. FDA previously identified problems with high-risk LDTs, ranging from a lack of appropriate controls yielding erroneous results to outright falsification of data. This makes it difficult for payers to know which tests to cover and for clinicians to know which tests are likely to help patients.  

Several talks at the 2023 American College of Medical Genetics and Genomics (ACMG) annual conference explored the drawbacks of the current LDT pathway and what the future of LDT regulation may look like under the recently reintroduced bill H.R.2369, Verifying Accurate Leading-edge IVCT [in vitro clinical test] Development Act of 2023 (VALID Act). The VALID Act seeks to grant FDA oversight of LDTs. If passed, the VALID Act may require laboratories to provide higher levels of evidence prior to commercializing a test, which may help prevent unnecessary or potentially harmful tests from reaching patients. 

If passed, the VALID Act is a step in the right direction, as stakeholders need more data to make informed decisions in the field of precision medicine. ECRI’s Genetic Test Assessment team presented a poster at the ACMG conference highlighting the need for health technology assessments (HTAs) to provide data-driven guidance on genetic and genomic tests. Our team met with payers, clinicians, patient advocacy groups, and laboratories to discuss precision medicine’s unique challenges and how ECRI services help members. 

HTAs have broad appeal to government organizations and payers. A previous blog post explored the importance of HTAs for payers in developing strong, defensible coverage decisions. However, other stakeholders also stand to benefit from HTAs, as they serve as fair and objective evaluations of a technology’s benefits and risks based on the published clinical literature.  

Dozens of genetic testing laboratories sought out our team at the ACMG conference. Their challenge: the uphill battle to gain a foothold in the competitive market. They wanted to know how to ensure that a well-designed and effective test could be brought to market quickly and efficiently. All stakeholders agreed that helping laboratories put their best foot forward would ultimately lead to better patient care and outcomes. A few common themes emerged from conversations at ACMG on how ECRI’s Genetic Test Assessment service can help laboratories. 

Independent Assessments Drive Evidence-Based Decisions 

ECRI has developed methods for quickly producing rapid evidence assessments. The months-long timeframe traditionally associated with producing HTAs is not a feasible way to assess the sheer volume of tests—nor can it keep pace with the rapidly evolving field. ECRI’s rapid evidence assessments can be used by laboratories to facilitate dialogue with payers, providers, and other stakeholders to (when applicable) support claims of a test’s benefit to patients by sharing an independent, unbiased, critical appraisal of the evidence. 

Understand How Clinical Evidence Affects Uptake and Reimbursement, and Avoid Surprises 

Rapid evidence assessments are reports that appraise the evidence’s strengths while also providing additional contextual and actionable information. Not all published clinical evidence carries the same weight, and different kinds of tests require different types of evidence, often influenced by the potential impact the results may have on management changes and the implications for patients. ECRI reports are used by payers to make coverage decisions. Lab members can review and comment on ECRI’s findings prior to publication so there are no surprises. Members can also commission updates to existing reports when new evidence is generated. 

Stand Out Among Competition 

Put kindly, the genetic testing market is oversaturated. Genetic Test Assessment’s robust library of broad and test-specific assessments helps laboratories increase understanding of how tests are viewed in the marketplace, refine clinical trial designs, and accelerate go-to-market strategy. The catalogue of reports allows stakeholders to see a sector’s strengths and weaknesses and identify tests that could challenge current market share. 

Thousands of genetic tests come to market with little to no evidence of patient benefit; therefore, identifying exemplar tests is a daunting task for even the most knowledgeable individuals. Helping laboratories put their best foot forward advances ECRI’s mission to improve the safety, quality, and cost-effectiveness of healthcare by facilitating dialogue between laboratories and other stakeholders, thereby getting the highest-quality tests to the right patients at the right time. ECRI’s rapid evidence assessments simplify the testing universe and enable stakeholders across the spectrum to make unbiased, informed, evidence-based decisions in a timely manner.