The social utility of clinical exome sequencing

Examine the presentation of clinical and social implications of exome sequencing findings during patient-geneticist interactions.

Video-recordings of 34 returns of exome sequencing results with findings in an academic genetics clinic were examined using an inductive thematic analysis to distinguish categories of consequences. We then operationalized these categories for structured observation coding of parent or geneticist/genetic counselor-initiated mention of consequences, complemented with semi-structured interviews with 16 families. This allowed us to provide basic descriptive statistics including frequencies and bivariate analyses. Because variables were generally dichotomous, we used chi-square tests of independence.

A total of 568 consequences of exome sequencing were discussed during the consultations, which can be grouped in two broad categories: clinical and social consequences. Clinical consequences related to the diagnosis, prognosis or treatment regimen of the test. Social consequences affect the family as a social unit and were not the reason for testing.

Besides clinical consequences, patients and clinicians distinguish distinct and highly salient social consequences of exome findings during return of results consultations.

Clinical geneticists have an opportunity to address the social utility of exome findings.