The Actionability of Exome sequencing testing results

Area of Science:

• Genomics
• Clinical Genetics
• Medical Sociology

Background:

• Genomic tests like exome sequencing are increasingly available for patient diagnosis.
• The clinical utility of extensive genetic information is under examination.
• Professional organizations advocate for broader definitions of genomic sequencing benefits.

Purpose of the Study:

• To investigate how genomic test results become actionable in clinical encounters.
• To explore the utility of exome sequencing beyond traditional diagnostic and management goals.
• To understand the parental experience of receiving exome sequencing results for children with disabilities.

Main Methods:

• Video-recorded observations of exome sequencing result returns in a clinical setting.
• In-depth interviews with parents of children with disabilities.
• Qualitative analysis of clinical encounters and parental perspectives.

Main Results:

• Exome results are utilized by parents and clinicians for purposes beyond biomedical diagnosis and management.
• Genomic information is marshaled to address parental guilt related to a child's disability.
• Test results facilitate access to disability-related services for families.

Conclusions:

• Genomic actionability is influenced by the interplay between genetic findings and parental circumstances.
• The clinical utility of exome sequencing extends to psychosocial and practical support for families.
• A broader perspective is needed to fully appreciate the benefits of genomic testing in diverse patient populations.