ISPD issues new guidelines for prenatal genome-wide sequencing

pregnancy_dnaGenome-wide sequencing is increasingly being conducted on fetal tissues, either as whole exome sequencing (WES), whole genome sequencing (WGS), or targeted analysis that uses clinical panels. These kinds of prenatal sequencing are sometimes done when more standard genetic tests have not yielded helpful results to explain structural anomalies, or if a specific genetic condition is suspected that would not be detected through other prenatal tests. While such sequencing is more likely to yield a positive result, it comes with its own set of risks and challenges – for instance, it is more likely to detect variants of unknown significance and other results that lead to excessive testing and stress on parents without significant benefit.

The International Society of Prenatal Diagnosis (ISPD), in conjunction with the Society of Maternal Fetal Medicine (SMFM) and the Perinatal Quality Foundation (PQF), just issued a joint position statement on the use of genome-wide sequencing for fetal diagnosis. While they recognize that sequencing can be useful in some instances, they generally take a cautionary approach. Based on “lessons learned from existing prenatal testing,” along with currently available literature and a panel discussion at the most recent annual ISPD meetings, their consensus opinion includes the following points. Continue reading ISPD issues new guidelines for prenatal genome-wide sequencing

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PIRC at the 2017 ELSI Congress

Many of us PIRCers came out of NIH-funded ELSI training programs, so we’re proud to have our individual and collaborative ELSI work represented at this year’s ELSI Congress at the Jackson Labs in Farmington, Connecticut.

Continue reading PIRC at the 2017 ELSI Congress

Bioethics proposal for prenatal whole genome sequencing raises lively debate

prenatal-genome-sequencing
Credit: Ernesto del Aguila III, NHGRI.

The latest issue of the American Journal of Bioethics includes a target article by Stephanie C. Chen and David T. Wasserman entitled, “A Framework for Unrestricted Prenatal Whole-Genome Sequencing: Respecting and Enhancing the Autonomy of Prospective Parents.” As you might imagine, several PIRC members were prompted to submit open peer commentaries in response, so PIRC is well-represented in this lively debate, as you can see: Continue reading Bioethics proposal for prenatal whole genome sequencing raises lively debate