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.
Highlights
Most women have routine ultrasound scans to be reassured about the health of their baby
A key concern is that the volume of information generated by these tests increases the incidence of uncertain results, including the identification of genomic variants of uncertain significance (VUS) or the detection of findings that are unrelated to the original reason for testing
Eight were drawn from both parent and health professionals (HPs) datasets, one was drawn from the HP dataset, and one further attribute was drawn from the patient dataset
Summary
Most women have routine ultrasound scans to be reassured about the health of their baby. In a small number of cases (around 4%), an unexpected structural anomaly will be detected [1] In such cases, women can choose to have further investigative invasive procedures (e.g. amniocentesis or chorionic villus sampling (CVS)) with DNA testing conducted on the extracted sample. Understanding the preferences and priorities of parents for tests that may reveal uncertain results is important, and may help health professionals (HPs) working within genomics to identify the best way to support parents in such a scenario. A DCE may reveal where differences of opinion arise amongst parents (e.g. whether older mothers or second-time mothers have different priorities and preferences regarding the return of uncertain prenatal test results than younger mothers), or even across countries, which may support varied approaches and guidelines to service delivery
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