Opinion: Diagnostic tests for rare conditions present a mathematical conundrum

Worried about your health? You can now avail yourself of noninvasive diagnostics that claim to screen for rare birth defects, cancer-associated mutations, and even Alzheimer’s. Even before the Covid pandemic, a 2018 paper reported that new genetic tests, many of them for increasingly rare conditions, were being released at the rate of 10 a day. These tests can be both sold direct to consumer and ordered by your physician.

A significant factor helping drive this entrepreneurial proliferation is that so-called lab-developed tests, which are designed, manufactured, and used in the same facility, have been exempt from FDA oversight. Consequently, such “LDTs” can be quickly brought to market without the FDA review of their effectiveness, labeling accuracy, and marketing claims required for regular tests.

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