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Elective genetic testing: Genetics professionals' perspectives and practices.

Madison S Miura1, Sabrina A Suckiel2,3, Hetanshi Naik1,4

  • 1Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Journal of Genetic Counseling
|December 28, 2022
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Summary
This summary is machine-generated.

Elective genetic testing (EGT) is increasingly available, with many genetics professionals seeing its potential benefits for patient health. However, barriers like limited resources and diagnostic testing prioritization hinder its widespread adoption.

Keywords:
attitudesbeliefsclinical geneticselective genetic testinggenetics services

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Area of Science:

  • Medical Genetics
  • Clinical Practice
  • Healthcare Policy

Background:

  • Elective genetic testing (EGT) is expanding in clinical settings for individuals without clear diagnostic indications.
  • Understanding the implementation and perceptions of EGT among genetics professionals is crucial.

Purpose of the Study:

  • To evaluate genetics professionals' perspectives on EGT.
  • To describe the current landscape of EGT practices in the U.S. and Canada.

Main Methods:

  • A mixed-methods survey study was conducted.
  • The study included responses from 6 clinical geneticists and 131 genetic counselors.

Main Results:

  • 44% of respondents offer EGT, with 88% reporting positive experiences.
  • Professionals perceive benefits (improved health outcomes) and risks (misinterpretation, health disparities).
  • Barriers include resource limitations and prioritization of diagnostic testing.

Conclusions:

  • Genetics providers recognize both the potential benefits and harms of EGT.
  • Positive experiences are reported by those offering EGT, but ethical and practical challenges persist.