New rules may restrict access to tests for rare diseases and quick responses to pandemics Yale experts express concerns over a proposed U.S. Food and Drug Administration (FDA) rule to increase its control over laboratory-developed tests (LDTs). These tests are essential for diagnosing rare diseases and enabled rapid responses during pandemics like H1N1, COVID-19, and mpox.

Commercially marketed tests are regulated by the FDA, while LDTs, designed by specific labs for their own use, are not. On September 29, the FDA announced its intention to regulate LDTs due to safety and efficacy issues.

"We’ve seen more issues with FDA-approved tests than our own LDTs," states Marie-Louise Landry, MD. The proposed regulations aim to protect patients but may hinder access to LDTs, complicating care for those with rare diseases or in a pandemic.

"The new rules could harm patient care, especially in institutions like Yale New Haven Hospital," says Alexa Siddon, MD, of Yale School of Medicine.

LDTs were not explicitly included in the 1979 Medical Device Amendments. The 1988 Clinical Laboratory Improvement Amendments (CLIA) allowed labs to develop their own tests. Yale labs, for instance, are inspected by the College of American Pathologists (CAP) and maintain high standards.

Marie-Louise Landry, MD, highlights more issues with FDA-cleared tests than LDTs and the ability to correct LDT issues promptly.

The 2021 VALID Act, aiming for FDA oversight over LDTs, was not passed. "After that, we knew the FDA would act," says Henry Rinder, MD.

In 2015, the FDA highlighted LDT issues, including Theranos's downfall due to faulty tests.

However, Siddon doubts FDA regulation will reduce errors, and El-Khoury believes it wouldn't have prevented Theranos's fraud.

The new ruling could limit testing for rare diseases. "We fill gaps with LDTs," Landry explains, noting the costs of FDA approval.

LDTs also enable rapid responses to pandemics. During COVID-19, Yale was the first in Connecticut to offer testing.

If enforced, the ruling could delay tests for rare diseases and emergencies. "Some LDTs are life-saving," Rinder notes.

El-Khoury suggests modernizing CLIA instead of new regulations. The FDA plans to finalize the rule in April 2024, with phased implementation over four years.

"This could impact hospitals nationwide," concludes Siddon.