Can cheap test prevent newborn deaths? | Amino acid desmosine as biomarker in aneurysms | Brouhaha over DTC genetic tests

Dear LabPulse Member,

Living in western, developed countries, we are likely to take for granted the availability of routine medical tests to prevent illness, complications, and even death. However, globally, there are many disparities in access to testing, leading to worse outcomes in low-resource settings.

A good example is the prevention of preterm births, which account for about one-third of the 3.1 million deaths of newborns worldwide each year. In a study published today, researchers described a low-cost way to identify pregnant women who are at risk for preterm births. The study, backed by the Bill & Melinda Gates Foundation and health authorities in Brazil, evaluated an alternative to monitoring with transvaginal ultrasound and screening for bacterial vaginosis with microscopy or gene amplification tests.

Testing of particular biomarkers in vaginal fluid appears to be effective for flagging those at risk, and it could be used at the point of care in countries where access to diagnostics is limited, the researchers reported.

Meanwhile, U.K. researchers have been working to identify biomarkers for life-threatening abdominal aortic aneurysms. They concluded that a high level of the amino acid desmosine in the blood correlates with a higher risk for rupture. The test could complement the measurement of aneurysm size on ultrasound, and it has potential for use with smaller aneurysms that can pose risk but not enough to justify surgical intervention.

In genomics news, direct-to-consumer (DTC) genetic tests that provide limited screening for breast and colon cancer mutations put people at risk for false-negative results, according to a study by Invitae presented at the American Society of Human Genetics annual meeting. That message is likely to resonate with health professionals, as there can be confusion surrounding the interpretation of genetic test results. But competitor 23andMe, which sells tests for a small number of genetic variants, issued a sharp rebuttal to the study, noting Invitae's conflict of interest, the study's lack of peer review, and the accuracy of 23andMe's tests, which are approved by the U.S. Food and Drug Administration and useful for people who do not meet criteria for clinical testing.

Separately, researchers at the Karolinska Institutet have been working on a low-cost alternative to next-generation sequencing for use in measuring copy number alterations in heterogenous tumors. They described a new technique called CUTseq in their proof-of-principle study published in Nature Communications. The presence of more copy number alterations suggests a more aggressive tumor, and there could be implications for patient management, the group reported.