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Related Experiment Videos

Genetics professionals' attitudes toward prenatal exome sequencing.

Casey E Brew1, Brian A Castro2, Vivian Pan3

  • 1Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois.

Journal of Genetic Counseling
|March 20, 2019
PubMed
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Genetics professionals see clinical utility in prenatal exome sequencing (ES) for diagnosing fetal abnormalities. However, guidance is needed on returning results and incidental findings to families as prenatal ES use grows.

Area of Science:

  • Medical Genetics
  • Genomic Medicine
  • Prenatal Diagnosis

Background:

  • Prenatal exome sequencing (ES) shows promise for diagnosing fetal abnormalities, potentially exceeding current methods like karyotyping and array techniques.
  • Despite research suggesting added diagnostic value, clinical implementation of prenatal ES remains limited.

Purpose of the Study:

  • To evaluate genetics professionals' attitudes towards the clinical use of prenatal exome sequencing.
  • To inform the development of professional guidelines for prenatal ES implementation.

Main Methods:

  • A survey was developed based on qualitative research themes.
  • The survey was distributed to members of key professional organizations: ACMG, ASHG, and NSGC.
  • 498 participants completed part or all of the survey.
Keywords:
clinical utilityexome sequencingprenatal ESreturn of results

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Main Results:

  • Consensus exists on the clinical utility of prenatal ES for diagnosis, pregnancy management, and termination decisions.
  • Most participants recognized prenatal ES as distinct from pediatric/adult applications.
  • Significant disagreement was found regarding the return of incidental findings and the applicability of current ACMG guidelines.

Conclusions:

  • Professional guidance is essential to address concerns regarding prenatal exome sequencing.
  • Anticipated growth in prenatal ES utilization necessitates clear guidelines for its responsible clinical integration.