Edging Cell-Free DNA Analysis Closer to Clinical Implementation

This Valentine’s Day, the researchers behind the DNAFirst study plan to discuss their results during an AACC-sponsored webinar, “Cell-Free DNA-based Prenatal Screening in the General Pregnancy Population.” 

Speakers Geralyn Lambert-Messerlian, PhD, FACB, NRCC, and Glenn Palomaki, PhD, of Women & Infants Hospital of Rhode Island/ Warren Alpert Medical School of Brown University in Providence, Rhode Island, will cover the study’s lab analysis of test results and reporting, how the testing was conducted, and what the study revealed about patient and provider education needs. 

The DNAFirst study looked at the clinical utility of cell-free DNA (cfDNA) screening in a general pregnancy population through primary obstetrical care providers, Lambert-Messerlian explained to CLN Stat. The test results “indicated excellent screening performance, with 0.2% screen positive women and no known missed cases of aneuploidy. Among the small percentage of screen positive pregnancies, 3 of every 4 were confirmed to be common aneuploidies,” she said. 

The speakers plan to touch on current strategies in using cfDNA for prenatal screening, and what barriers this method may face for implementation. Current limitations include occurrence of test failures, high test costs, and lack of consistent insurance reimbursement, Lambert-Messerlian said. 

Many professional organizations, including the American College of Obstetricians and Gynecologists (ACOG), have voiced concerns regarding the use of cfDNA for prenatal screening, she continued. 

These organizations suggest that cfDNA testing is not diagnostic, that women with screen positive cfDNA results have a high risk for fetal aneuploidy, and invasive diagnostic testing should be required for confirming screen positive results. ACOG has also suggested that genetic counselors provide this type of education. “Our study explored providing education through carefully constructed patient materials and primary care providers,” Lambert-Messerlian said. 

The advantage of cfDNA screening is its high detection and low screen positive rates, she emphasized. It’s also a simple and convenient way for patients and providers to screen for chromosome abnormalities. The fact that these parties understood the purpose of cfDNA test, the meaning of test results, and the limitations of screening with this method, were important takeaways of this study, Lambert-Messerlian said. 

Lab directors, managers, and technologists who perform prenatal screening or want to find out more about these tests should register for this informative webinar on Feb. 14, which is scheduled from 2 p.m. to 3 p.m. EST.