This study highlights the challenges that prenatal genetic screening presents for both pregnant patients and their obstetric healthcare providers. Our findings raise important clinical and ethical questions about how best to ensure that patients can make autonomous, informed decisions about their screening options.
While knowledge levels for both kinds of screening were low at baseline, participants had greater familiarity with AS at the onset of prenatal care compared to CS. Knowledge deficits were noted across several informational categories, including the conditions contained in these screenings, the risk factors for a fetus being diagnosed with chromosomal or genomic variant, the interpretation of screen results, and the implications of those risk assessments on their pregnancy and future reproductive decision-making. In many regards, these findings were expected. Prior studies have demonstrated patient knowledge deficits and challenges for informed decision-making for prenatal AS factors have persisted despite the continued growth of cfDNA screening.42–45 Other studies have demonstrated deficits in patient knowledge and decision-making for CS.20, 38, 46–49 While some of these are due to patient-related factors, others are due to healthcare-related factors, including impediments in provider knowledge and adherence to evidence-based guidelines about their use.50–57
Our findings indicate that it will require significant time and effort for healthcare providers to overcome the patients’ deficits in knowledge. This is problematic, given that providers have increasingly less time during clinical encounters to engage in lengthy conversations. These results point to the increasing workload required at the first prenatal visit to ensure patients are prepared to make informed prenatal genetic screens decisions. Ideally, prenatal genetic screening options should be offered at the onset of prenatal care. While final decisions about the use of prenatal genetic screens may not be made at the initiation of prenatal care, the counseling that occurs at this time sets the stage for patients' informed access to genetic information about the pregnancy. In reality, these discussions do not occur in isolation, but during the time at which other important aspects of prenatal healthcare delivery must be discussed (e.g., the role of folic acid, immunization), with the addition of significant topical issues (e.g., COVID-19).1 These factors affect how much time and effort can be allocated during this visit to support patients' understanding of screening and diagnostic testing options and the implications of their choices on the outcome of the pregnancy. 60–61
In addition, as prenatal genetic panels become increasingly complex, it will become more difficult to structure and individualize a patient-centered decision-making process. For instance, we found that participants preferred to learn about all of the conditions on a panel when there were only 5–10 conditions; however, when the number of conditions increased to 50 or 100, participants preferred to defer learning about conditions until the post-test period. While some authors have suggested using a generic informed consent process for expanded panels,58 this approach may not meet patients’ needs for informed and autonomous decision-making for panels with less than 50 conditions, as it is necessary to ensure patients understand how screening accuracy may decrease as the number of conditions on a panel increases.59 In addition, participants in this study found personal value in panel tests that can provide information about a range of different identifiable variants that can affect the quality of life or viability. This preference included not only information about variants associated with severe childhood-onset conditions but also those associated with adult-onset conditions and conditions which have an uncertain impact on the quality of life, although screening is not recommended for such conditions. 3,15, 20 Thus, there may be a need to align patient preferences with evidence-based guidance, an effort complicated by the continued availability of expanded panels that depart from current guidelines.
This situation calls for integrating innovative technological solutions as we reevaluate how to best support patients’ informed decision-making about an expanding array of prenatal genetic screening options at the onset of prenatal care.62 For instance, patient engagement software is a new approach used in other areas of healthcare driven by patient preferences and needs.63 These types of programs can present information with decision aids and then, using the input of patients, respond and adapt to patient preferences and needs to provide more personalized education. Such an approach may reduce the challenges to condensing these processes in a single visit. In addition, using programming pathways, information delivery can be automated so that it can be delivered at different time points in prenatal care delivery. This would be an optimal approach to initiate decision-making once a pregnant patient schedules her initial prenatal visit and then at set times over the prenatal episode in conjunction with screening and diagnostic testing milestones. It would also help prepare patients to discuss their options with a genetic counselor by introducing them to genetic screening concepts in preparation for that visit. Further research is needed to determine how to integrate innovative approaches into prenatal care delivery to meet the challenges posed by genomics.
As study data were collected using a self-administered survey among eligible patients who elected to participate, it is crucial to consider the impact of response and selection bias among the types of patients who completed the survey, particularly given our low response rate. However, when we tested for statistical differences between responders and non-responders, we did not find significant differences between groups. In conducting this study, we sought a broad demographic representation in our recruitment efforts; yet, most respondents were > 35 years of age, self-described Caucasian, with higher education levels, and from the same geographic areas. Knowledge and decision-making preferences of women of different ages, education levels, or race/ethnic groups remain uncertain. Thus, further research is needed to elucidate these important issues. Despite these limitations, our study sheds light on significant challenges facing patients, healthcare providers, and healthcare systems with the clinical implementation of new prenatal genomic screens.