LIMS adoption | Understanding CSF in neuro conditions | Noninvasive prenatal screening

Dear LabPulse Member,

Today's featured story is an article about the adoption of laboratory information management systems (LIMS). About 43% of labs worldwide have adopted a LIMS, according to a new market research report from sister company Strategic Directions International. Market analyst Ryan Harake explains issues that have been resolved and the challenges ahead for labs considering a transition.

News from the European Society of Human Genetics meeting, held June 15 to 18 in Gothenburg, Sweden, included updates on noninvasive fetal genetic screening, including a small study from researchers in London on a cell-free DNA test for detecting sickle cell disease, which is caused by an inherited mutation in the hemoglobin gene. Current methods include testing the amniotic fluid of pregnant women, and noninvasive alternatives are in demand.

Separately, on June 17, San Francisco-based diagnostics company Invitae said it is preparing to offer high-volume, low-cost noninvasive prenatal screening through the acquisition of Singular Bio, a private company also based in San Francisco. This followed on the heels of Invitae's tie-ups with Spark Therapeutics and X4 Pharmaceuticals, through which it will offer free genetic screening for certain rare diseases.

In journal news over the past week, we covered a study in JAMA Neurology about an evolution in the understanding and use of testing for neurofilament light protein in cerebrospinal fluid (CSF). Testing has long been established in neurodegenerative diseases, yet differences by age, sex, and condition have been unclear. Among other things, researchers reported that it may be possible to differentiate between Parkinson's disease and atypical parkinsonian syndromes, which could have important implications for patient management.

Early-stage diagnostic development updates included a proof-of-principle study about a point-of-care test developed by Vanderbilt University researchers for use in low-resource settings to identify resistance to malaria treatments. The researchers hope to develop the test as a practical alternative to single-nucleotide polymorphism genotyping in central laboratories.

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