Skip to main content
Premium Trial:

Request an Annual Quote

State of Molecular Dx Embarrassingly Bad, Say Tri-Conference Speakers

SAN FRANCISCO, Feb. 24 (GenomeWeb News) - Despite recent advancements in molecular diagnostics, insiders from industry and academia sounded a cautious note when describing the state of the industry during Cambridge Healthtech's Molecular Medicine Tri-Conference, held here last week.


Jorge Leon, the acting chief scientific officer of Orion Genomics, said during a presentation that, in particular, "the cancer diagnostic market is really pathetic."


"There is a great need for breast and ovarian cancer screening diagnostics," said Leon. Orion, based in St. Louis, has been working on screening tests for ovarian, colorectal, and breast cancers, he said.


Leon's words were echoed by John Ioannidis, a professor at the University of Ioannina School of Medicine in Greece, who said during his presentation on Friday that "diagnostics in the 20th century [were] embarrassingly bad."


"I think the tests we have available show poor performance; they don't provide useful information in the clinical setting," Ioannidis told GenomeWeb News after his talk. "For most diseases we are almost at a loss."


According to David Ransohoff, an epidemiologist at the Universityof North Carolina, Chapel Hill, a central dilemma that molecular diagnostics faces is that the "field is dominated by small groups looking to hit a home run."


He said that many companies are led into thinking that discovery is easy, and that many studies that result in diagnostic efforts "don't give reproducible results."


"The field has got to organize itself more in a way parallel to how drugs are developed," Ransohoff said. "We need to design studies that are reliable and we can build on. If the units of knowledge in the field are not strong then the field cannot solve these problems."


Ultimately, though, Ransohoff said he thinks "people are going to look back on this as a naïve and inefficient time."


"People will look back at this time and say that the mistakes that we have made could have been predicted," he said.


However, Ransohoff and others pointed out that there is some good work being done. He said that the success of Genomic Health in developing the OncotypeDx test for breast cancer recurrence has "outlined a kind of model that the field can learn from."


Ioannidis added that "progress in the field will be incremental."


"[Our] faith stems from the fact that we can measure a lot of things," he said. "But the answer is buried somewhere in the data. Finding the answer is the problem."

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.