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Preferences for results delivery from exome sequencing/genome sequencing.

Martha F Wright1, Katie L Lewis1, Tyler C Fisher2

  • 1Genetic Disease & Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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Summary

Participants want sequencing information for health management but worry about incurable conditions. They prefer in-person results, balancing curiosity with potential distress.

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Area of Science:

  • Genomic medicine
  • Participant engagement in research

Background:

  • Understanding participant preferences for genomic results is crucial for ethical research.
  • The ClinSeq study explored participant perspectives on receiving sequencing information.

Purpose of the Study:

  • To investigate participant views on returning various types of sequencing information.
  • To explore preferences for receiving and the implications of genomic results.

Main Methods:

  • Six focus groups conducted with 39 ClinSeq participants.
  • Inclusion of diverse participant groups: those who received results, those who did not, individuals with cardiovascular disease, and healthy adults.
  • Qualitative analysis of transcribed focus group data for thematic identification.

Main Results:

  • High interest in receiving medically actionable, nonactionable, and carrier results.
  • Preference for in-person result delivery, with some openness to online resources.
  • Perceived benefits include health management, scientific contribution, and personal control.
  • Concerns involve potential distress and aversion to results related to incurable diseases or implications for offspring.

Conclusions:

  • Participants value sequencing information but express concerns about emotional responses and incurable conditions.
  • Balancing the desire for knowledge with potential psychological impact is key in genomic result return.