Screening Before We Know: Radical Uncertainties in Expanded Prenatal Genetics

In this article, we discuss the radical uncertainties unleashed by expanded prenatal genetics. We show how we are now routinely screening fetuses in the absence of two essential sorts of information. At the population level, we do not have sound, unbiased data about the prevalence, penetrance, and clinical variability of most mutations. At the level of the proband, it is often too soon to discern relevant information about the fetus’ phenotype. First, we outline the longstanding ethical objections to newborn screening for poorly understood genetic anomalies and disorders, and explain how it limits our understanding of their penetrance and variability. Next, we contrast the strong restrictions and regulations around newborn screening with the more laissez-faire framework for prenatal screening, using the rollout of non-invasive prenatal testing (NIPT) as the timeliest and most illuminating example. We show how new conditions are added to NIPT kits based on technological feasibility and profit motive, leading to widespread prenatal screening for incompletely understood genetic disorders. Finally, we explore the myriad dilemmas that ‘screening before we know’ creates for counsellors, caregivers, and prospective parents in the age of non-invasive prenatal genetic screening, and argue for an approach that openly embraces the radical uncertainties we face.

Improving Genetics Clinic Efficiency and Capacity Using Design and Human Factors Methods

This quality improvement study focused on developing an understanding of factors influencing the ability of prenatal genetics counsellors (GCs) to efficiently see patients during the COVID-19 pandemic and strategies to improve their workflow using techniques from human factors and design. The demand for Prenatal Genetics Clinics is rising which has increased pressure on GCs to become more efficient. Genetics counsellors can improve access to their services by reducing the time spent on the tasks performed before and after a genetic counselling encounter, thereby increasing the number of patients they see. We were limited to certain methods to understand the differences in workflow before and during the COVID-19 pandemic. This study involved a literature review, archival analysis of workflow studies conducted before the pandemic, stakeholder meetings and mapping, a brainstorming session, as well as documenting time-on-task in a diary and naturalistic observation sessions. A task analysis was developed to identify factors influencing efficiency related to the design of the space, processes and the use of artefacts. Virtual and on-site workflows show that GCs spend at least half of their time on tasks before and/or after the patient’s appointment. Looking at potential inefficiencies or bottlenecks in workflow formed the development of a strategic plan for improving GC workflows at the prenatal Genetics Clinic. Improvements suggested through this analysis were constrained to support the current number of healthcare providers working within the existing space configuration.