Assessing women’s preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design

Abstract

Prenatal DNA tests, such as chromosomal microarray analysis or exome sequencing, increase the likelihood of receiving a diagnosis when fetal structural anomalies are identified. However, some parents will receive uncertain results such as variants of uncertain significance and secondary findings. We aimed to develop a set of attributes and associated levels for a discrete-choice experiment (DCE) that will examine parents’ preferences for tests that may reveal uncertain test results. A two phase mixed-methods approach was used to develop attributes for the DCE. In Phase 1, a “long list” of candidate attributes were identified via two approaches: 1) a systematic review of the literature around parental experiences of uncertainty following prenatal testing; 2) 16 semi-structured interviews with parents who had experienced uncertainty during pregnancy and 25 health professionals who return uncertain prenatal results. In Phase 2, a quantitative scoring exercise with parents prioritised the candidate attributes. Clinically appropriate levels for each attribute were then developed. A final set of five attributes and levels were identified: likelihood of getting a result, reporting of variants of uncertain significance, reporting of secondary findings, time taken to receive results, and who tells you about your result. These attributes will be used in an international DCE study to investigate preferences and differences across countries. This research will inform best practice for professionals supporting parents to manage uncertainty in the prenatal setting.

A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018

“…This reduction is important as it is documented that the waiting time for a result is perceived as very trying for the pregnant couple. 14,15 We continue to miss the eminent causal understandings that karyotyping provides in rare cases. Looking back, this is primarily an issue in the rare cases where mosaicism for sex-chromosome disorders or mosaicism for CNVs are detected.…”

“…The turnaround time significantly improved with the change in method; from 14 to 21 days with karyotyping 9 to only 5.5 days with CMA. This reduction is important as it is documented that the waiting time for a result is perceived as very trying for the pregnant couple 14,15 …”

Factors that impact on women's decision‐making around prenatal genomic tests: An international discrete choice survey

“…An extensive description of the development of the attributes and levels for the DCE survey is provided elsewhere 19 . In brief, we applied a two‐phase mixed methods approach involving a systematic review of the literature, followed by semi‐structured interviews and a quantitative scoring exercise.…”

“…An extensive description of the development of the attributes and levels for the DCE survey is provided elsewhere. 19 In brief, we applied a two-phase mixed methods approach involving a systematic review of the literature, followed by semi-structured interviews and a quantitative scoring exercise. This yielded five attributes (described in Table 1): diagnostic yield, reporting of variants of uncertain significance, reporting of SFs, time to receive results, and which healthcare provider explains the results.…”

Key drivers of family-level utility of pediatric genomic sequencing: a qualitative analysis to support preference research

“…Formative qualitative research, conducted in a target population appropriate for the intervention under study, is a critical rst step in designing a DCE, as the ndings are necessary to inform which attributes and levels are included (14)(15)(16). Formative work supporting attribute choice and labeling has received increasing attention (7,(17)(18)(19), yet the process of attribute development is infrequently described in detail (20). Thorough, t-for-purpose qualitative work can inform preference-based valuation of both health and non-health outcomes, ultimately serving to make economic evaluations more patient-centered by better re ecting what matters to patients and families.…”