Experiences among Women with Positive Prenatal Expanded Carrier Screening Results

Abstract

The offering and acceptance of expanded carrier screening is increasing among pregnant women including women without an increased risk based on race, ethnicity or family history. The chances of a positive screening test have been reported to be as high as 24 % when multiple conditions are screened. Yet, little is known about the way these tests are offered and how patients are affected by a positive test result. To explore this area of genetic testing, interviews (n = 17) were conducted among women who received positive expanded carrier results in the context of obstetric care. A content analysis was conducted on the transcript data from the interviews. Outcomes of this research suggest that educational interventions are needed to improve maternal understanding of positive carrier screening results. Most of the participants in this study confused the results with other prenatal screening test options. In addition, the way the results were discussed varied greatly, and influenced participants’ thoughts about reproductive decisions that led to a range of emotional uncertainty. Our data suggests that genetic counseling improved participants’ understanding of positive results. More research is needed to further understand if our results are consistent within a larger, more diverse sample, and to explore how to best provide education about expanded carrier screening.

Patient actions and reactions after receiving negative results from expanded carrier screening

“…As the cost of sequencing decreases, expanded carrier screening, defined as simultaneously screening for a large number of genetic variants, is expected to be available to an increasing number of patients . Carrier screening is used to identify a patient or couple's likelihood of passing on a genetic condition to their child and has historically targeted specific subpopulations of individuals who are at increased risk of specific genetic conditions, but it is becoming more common to offer screening for a limited number of conditions to the general preconception and prenatal patient populations . As costs decrease for expanded carrier screening, there will likely be more couples receiving such screening.…”

“…While it is well recognized that patients who are found to be at risk of having a child with a particular genetic condition should have access to high‐quality genetic counseling, there is a need to understand how patients who receive negative results from expanded carrier screening will be affected and what kind of support they need, as they will represent the vast majority of carrier screening patients. In contrast to single‐disease screening, where receiving negative results has been shown to cause minimal long‐term harm, expanded carrier screening has the potential to raise additional challenges due to its ability to screen for more conditions among a broader population.…”

“…In contrast to single‐disease screening, where receiving negative results has been shown to cause minimal long‐term harm, expanded carrier screening has the potential to raise additional challenges due to its ability to screen for more conditions among a broader population. For example, the inclusion of many conditions and the lack of knowledge about their implications could cause negative psychological or emotional effects during and after the screening process . This may be especially true if patients learn about conditions they did not want to know about.…”

An empirical assessment of the short-term impacts of a reading of Deborah Zoe Laufer's drama Informed Consent on attitudes and intentions to participate in genetic research

“…In 2009, two state public health programs, Minnesota and Texas were sued by parents who objected to the use of residual newborn screening dried bloodspots without parental knowledge or permission (Rothwell et al 2016). Although the biospecimens were not used in a manner that violated federal regulations, the lack of awareness of this practice was problematic.…”

“…Another member of the team independently reviewed the codes for accuracy to ensure the codes represented what was reported in the open-ended questions. The codes were then linked based on similarity to form categories (Miles et al 2014; Rothwell et al 2016). For each question, the most commonly reported categories are presented below.…”