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NIH, industry, and nonprofits join forces

The National Institutes of Health, 10 biopharmaceutical companies, and several nonprofit organizations launched Feb. 4 a partnership to transform the model for identifying and validating the most promising biological targets of disease for new diagnostics and drug development.

The Accelerating Medicines Partnership, or AMP, aims to distinguish biological targets of disease most likely to respond to new therapies and characterize biomarkers. Through the Foundation for the NIH, AMP partners will invest more than $230 million over five years in the first projects, which focus on Alzheimer’s disease, type 2 diabetes, and rheumatoid arthritis and systemic lupus erythematosus. The three- to five-year pilot projects in these disease areas could set the stage for broadening the partnership to other diseases and conditions.

NIH director Francis Collins, MD, PhD, said in a statement that meeting the challenge of the new opportunities in therapeutics is “beyond the scope of any one of us and it’s time to work together in new ways to increase our collective odds of success.” The data and analyses the partnership generates will be made publicly available to the broad biomedical community.

Test reduces false-positive rate of fetal aneuploidy detection

Authors of a study published Feb. 27 in the New England Journal of Medicine say their findings suggest that cell-free DNA testing merits consideration as a primary screening method for fetal autosomal aneuploidy.

In a direct comparison of noninvasive prenatal testing using cell-free DNA with standard prenatal aneuploidy screening in a general obstetrical population, Illumina’s Verifi prenatal test significantly reduced the rate of false-positive results for the detection of fetal trisomies 21 and 18. The study also demonstrated that Verifi performs consistently well in all pregnant women, regardless of their risk level for fetal aneuploidy.

The prospective, multicenter, blinded study analyzed samples from 1,914 pregnant women at all risk levels for fetal chromosome abnormalities. The false-positive rate for detection of trisomy 21 with Verifi was significantly lower than with conventional standard screening (0.3 percent versus 3.6 percent, P<0.0001). For trisomy 18 also, Verifi demonstrated a lower false-positive rate when compared with standard testing (0.2 percent versus 0.6 percent, P=0.03).

The positive predictive values of the assay were 45.5 percent for trisomy 21 and 40 percent for trisomy 18, which “underscore the conclusion that assaying fetal DNA is a screening tool and not a diagnostic intervention,” write Michael Greene, MD, and Elizabeth Phimister, PhD, of Massachusetts General Hospital, in an accompanying editorial.

Verifi and standard screening correctly detected all cases of trisomies 21 and 18.