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Position Statement Spells Out Fetal Diagnostic Sequencing Recommendations

NEW YORK (GenomeWeb) – Three prenatal-, perinatal-, and maternal-fetal health-focused organizations have jointly issued new recommendations regarding the use of genome-wide sequencing to diagnose fetal conditions.

Pointing to recent advances in DNA sequencing and related applications in the prenatal diagnostics field, representative from the International Society for Prenatal Diagnosis, the Perinatal Quality Foundation, and the Society for Maternal-Fetal Medicine came together to establish a consensus position statement about 'points requiring consideration' when it comes to the increased use of sequencing in diagnosing genetic conditions prenatally. The statement was published online this week in the journal Prenatal Diagnosis.

The team addressed the applications — and potential sources of apprehension — of the clinical use of sequencing technologies ranging from targeted sequencing panels to exome or whole-genome sequencing in fetuses with suspected genetic conditions.

"The underlying principle of this document is that the introduction of new genetic technologies into reproductive care must take into account lessons learned from existing prenatal genetic testing, consideration of the impact of innovations, attention to patient and provider education, and consideration of the wider ethical and societal concerns," the authors wrote.

For the most part, they noted that diagnostic sequencing is typically reserved for cases with suspected genetic conditions that have already undergone inconclusive array-based chromosomal testing or when "expert genetic opinion determines that standard genetic testing is less optimal than sequencing for the presenting fetal phenotype."

Citing "insufficient validation data and knowledge about its benefits and pitfalls," the statement recommended against more routine use of sequencing-based diagnostic testing in the prenatal setting. Rather, the team pointed to the benefits of performing such testing within a research protocol, or when it speeds up the confirmation or accuracy of a genetic diagnosis that's already underway.

More broadly, the team highlighted the benefits of sequencing parent-fetus trios, when possible, as well as providing sufficient informed consent opportunities for both parents, and access to appropriate education and genetic counseling before and after testing.

The recommendations address not only the technical side of such testing — including variant interpretation and laboratory standards for clinical diagnostic sequencing — but also the types of information that should be conveyed to parents-to-be during the genetic counseling, consent, and return-of-results stages of the diagnostic testing process.

Along with improved education for healthcare professionals tasked with implementing and returning results from fetal sequencing in the clinic, for example, the authors called for additional research into the clinical utility and appropriate translation of such sequencing-based tests.

"Clinical and translational research in this area is needed and its funding should be prioritized," they wrote. "The results of such studies are likely to inform further refinement of this statement, which will require regular review and modification to take into account the evolving scientific, clinical, ethical, and societal context."