Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing

Gilmore, Marian J.; Schneider, Jennifer; Davis, James V.; Kauffman, Tia L.; Leo, Michael C.; Bergen, Kellene M.; Reiss, Jacob A.; Himes, Patricia; Morris, Elissa; Young, Carol; McMullen, Carmit K.; Wilfond, Benjamin S.; Goddard, Katrina A.B.

doi:10.1007/s10897-017-0074-y

Cited by 40 publications

(66 citation statements)

References 18 publications

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“…Alternatively, the elect group expressed that ECS would reduce their anxiety level, while the decline group expressed that ECS would increase their anxiety level. This is consistent with prior research from Gilmore et al (2017) which demonstrated that individuals who decline ECS in a preconception setting may believe it would increase their anxiety. When counseling patients regarding ECS, it may be beneficial to ask the patient if they believe ECS would increase or decrease their level of anxiety and why they believe so.…”

Section: Does Current or Predicted Level Of Anxiety Impact Decision Tsupporting

confidence: 91%

Pregnant Women's Perspectives on Expanded Carrier Screening

Propst

Connor

Hinton

et al. 2018

Journal of Genetic Counseling

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Expanded carrier screening (ECS) is a relatively new carrier screening option that assesses many conditions simultaneously, as opposed to traditional ethnicity-based carrier screening for a limited number of conditions. This study aimed to explore pregnant women's perspectives on ECS, including reasons for electing or declining and anxiety associated with this decision-making. A total of 80 pregnant women were surveyed from Northwestern Medicine's Clinical Genetics Division after presenting for aneuploidy screening. Of the 80 participants, 40 elected and 40 declined ECS. Trends regarding reasons for electing or declining ECS include ethnicity, desire for genetic risk information, lack of family history, perceived likelihood of being a carrier, and perceived impact on reproductive decisions. Individuals who declined ECS seemed to prefer ethnicity-based carrier screening and believed that ECS would increase their anxiety, whereas individuals who elected ECS seemed to prefer more screening and tended to believe that ECS would reduce their anxiety. These findings provide insight on decision-making with regard to ECS and can help guide interactions that genetic counselors and other healthcare providers have with patients, including assisting patients in the decision-making process.

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Section: Does Current or Predicted Level Of Anxiety Impact Decision Tsupporting

confidence: 91%

Pregnant Women's Perspectives on Expanded Carrier Screening

Propst

Connor

Hinton

et al. 2018

Journal of Genetic Counseling

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show abstract

“…While there is little data examining reasons for or factors influencing patient acceptance of ECS, a study by Gilmore and colleagues specifically sought to qualify reasons for decline. In their 2017 study, they surveyed 240 women who had previously declined potential genomic carrier screening and found that these women were less educated, younger, and had a lower income compared with those who accepted ECS.…”

Section: Discussionmentioning

confidence: 99%

The uptake of pan‐ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling

Larsen

Strassberg

et al. 2019

Prenatal Diagnosis

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Objective To examine factors that influence uptake of expanded carrier screening (ECS) among women undergoing preconception and prenatal genetic counseling. Methods We retrospectively reviewed 500 medical records from women with prenatal or preconception genetic counseling at a prenatal genetic counseling service. We tabulated acceptance of ECS by indication for genetic counseling along with demographic and pregnancy‐related factors. Results ECS was offered to 483 of 500 women, and 192 (39.8%) accepted. Of the 67 women counseled preconceptionally, 46 (68.7%) accepted ECS. This was significantly more than for 416 women counseled during pregnancy, of whom 146 (35.1%) accepted (P ≤ 0.001). For pregnant patients, the mean gestational age of those accepting ECS (12 weeks 3 days; n = 146) was significantly lower than those declining (13 weeks 4 days; n = 270; P ≤ 0.001). The acceptance rates were 7 of 12 (58.3%, P = 0.195) for Ashkenazi Jewish women, 12 of 41 (29.3%; P = 0.186) for Asian women, and 7 of 25 (28.0%; P = 0.241) for women of mixed ethnicity. Conclusions These results suggest that receiving genetic counseling prior to or earlier in the first trimester is associated with acceptance of ECS and support the importance of early genetic counseling about carrier screening options.

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“…This conflicting result may suggest that those who will take the test probably have a positive attitude towards the test, perceived susceptibility to the disease or probably want to avoid having an affected child, as studies have suggested 43. Conversely, those who decline the test may feel that they are not at risk, or that a lack of family history is sufficient to convince them that such tests are unnecessary 38. Our results show that who individuals learn about the test from is important.…”

Section: Discussionmentioning

confidence: 99%