Molecular diagnostic tests that employ gene-based analytical techniques use many advanced technologies such as FISH and MS, but like other diagnostic testing fields, there is a lack of harmonization of results. Cholesterol testing results have been harmonized by the CDC since the 1980s through the Lipids Standardization Program, which has led to potentially billions of dollars in savings and a major prevention of medical errors; however, most lab tests do not share the same luxury of a standardization program that harmonizes results.

Many researchers assume that clinical lab assays are accurate and will provide the same results regardless of where the testing is done, which is a serious misconception, as assays can vary from vendor to vendor, method to method, or instrument to instrument. In a survey of 16 molecular diagnostics labs earlier this year, nomenclature, description of methodology, managing variants of uncertain significance and result content were listed as areas in dire need of standardization.

Advocates for the harmonization of lab results celebrated a win in early 2018 when the US FY2018 federal omnibus spending package included $2 million for the CDC for advancing harmonization efforts, specifically for results for free testosterone, thyroid simulating hormones and estrogen/estradiol tests. However, additional federal funding is not enough—harmonization will not be possible without the support and initiatives undertaken by other stakeholders, such as clinical societies, lab organizations, reference material suppliers and IVD producers. This is especially significant for the future as molecular diagnostic testing is becoming more prevalent in the health industry.

Source: Biocompare