Interest in and uptake of genetic counseling for preconception carrier screening when offered to predominantly white reproductive‐age persons seeking gynecologic care at a single U.S. academic medical center

Nesbit, Carleigh B.; Pollack, Catherine C.; Mascia, Nicolina S.; Lacroix, Valérie; Applebee, Devin M.; Bosco, Amy W.; Wilkinson-Ryan, Ivy; Erekson, Elisabeth A.; Evans, Rebecca H.

doi:10.1002/jgc4.1457

Cited by 6 publications

(18 citation statements)

References 19 publications

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“…The differences between this and our study could possibly be explained by differences in study design like the fact that our participants received RGCS free of charge while participants in the American study by Nesbit et al. (2021) had to pay out‐of‐pocket or relied on their insurance for (a partial) reimbursement. Schuurmans et al.…”

Section: Discussionmentioning

confidence: 72%

“…Pretest genetic counseling services will be essential to ensure that those who are being offered RGCS will be able to make informed choices. More research is needed to identify ideal approaches to deliver these services, especially when offered in settings with a limited number of trained counselors (Nesbit et al., 2021).…”

Section: Discussionmentioning

confidence: 99%

“…Therefore on-the-spot screening was not being offered. As raised by Nesbit et al (2021), we believe that we should be attentive to the way RGCS is being offered to avoid participants accept RGCS out of convenience and to enable informed reproductive decisions. Ideally, screening should therefore not be offered at the same time when patients are being informed about the option to undergo RGCS.…”

Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge, only four prospective research studies (Gilmore et al., 2017; Nesbit et al., 2021; Propst et al., 2018; Schuurmans et al., 2020) have assessed the uptake of RGCS for multiple conditions. Two of these studies (Gilmore et al., 2017; Schuurmans et al., 2020) offered RGCS free of charge in a research setting while participants in the two other studies (Nesbit et al., 2021; Propst et al., 2018) had to pay out‐of‐pocket or relied on their insurance for (a partial) reimbursement. The aim of our study was twofold.…”

Section: Introductionmentioning

confidence: 99%

“…The final uptake dropped even further to eventually 53% of participants. In an American study byNesbit et al (2021) reproductive-aged women presenting for a gynecologic consult were recruited to determine the level of interest in preconception RGCS. Of all participants who were offered participation, only 41% (n = 79/193) desired a referral to genetic counseling but less than half (44%, n = 35/79) of these couples indeed scheduled and attended a counseling session.…”

mentioning

confidence: 99%

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Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive‐aged women in Flanders (Belgium)

Steijvoort

Demuynck

Peeters

et al. 2022

Journal of Genetic Counseling

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Reproductive genetic carrier screening (RGCS) allows to identify couples who have an increased likelihood of conceiving a child affected with an autosomal recessive or X‐linked monogenic condition. Multiple studies have reported on a wide and fragmented set of reasons to accept or decline RGCS. Only a few studies have been performed to assess the uptake of RGCS. Nonpregnant women visiting their gynecologist were invited to complete a questionnaire assessing perceived susceptibility, the acceptability of offering RGCS, attitudes, the intention to participate in RGCS, reasons to accept or decline RGCS, and sociodemographic characteristics. Women who showed the intention to have RGCS were asked to consider a free RGCS offer. Most women (n = 127) were between 25 and 34 years old (60%), in a relationship (91%), and wanted to have children (65%). Study participants had positive attitudes towards RGCS and the intention to consider RGCS in the future. Reasons to accept RGCS were being able to share genetic information with children or relatives (n = 104/127, 82%), to prevent the birth of a child affected with a hereditary condition (n = 103/127, 81%), and/or to know the chance of conceiving a child with a hereditary condition (n = 102/127, 80%). Reasons for declining RGCS were the possible concerns that could arise when receiving test results (n = 27/127, 21%), having no family history of hereditary disorders (n = 19/127, 15%), and not wanting to take action based on test results (n = 13/127, 10%). Among test intenders that met the inclusion criteria, 53% decided to participate in RGCS together with their male reproductive partner. More in‐depth research on the decision‐making process behind the choice to accept or decline an RGCS offer would be highly valuable to make sure couples are making informed reproductive choices.

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Section: Discussionmentioning

confidence: 72%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

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Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive‐aged women in Flanders (Belgium)

Steijvoort

Demuynck

Peeters

et al. 2022

Journal of Genetic Counseling

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Expanded carrier screening for reproductive risk assessment: An evidence‐based practice guideline from the National Society of Genetic Counselors

Sagaser

Malinowski²,

Westerfield

et al. 2023

Journal of Genetic Counseling

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Expanded carrier screening (ECS) intends to broadly screen healthy individuals to determine their reproductive chance for autosomal recessive (AR) and X‐linked (XL) conditions with infantile or early‐childhood onset, which may impact reproductive management (Committee Opinion 690, Obstetrics and Gynecology, 2017, 129, e35). Compared to ethnicity‐based screening, which requires accurate knowledge of ancestry for optimal test selection and appropriate risk assessment, ECS panels consist of tens to hundreds of AR and XL conditions that may be individually rare in various ancestries but offer a comprehensive approach to inherited disease screening. As such, the term “equitable carrier screening” may be preferable. This practice guideline provides evidence‐based recommendations for ECS using the GRADE Evidence to Decision framework (Guyatt et al., BMJ, 2008, 336, 995; Guyatt et al., BMJ, 2008, 336, 924). We used evidence from a recent systematic evidence review (Ramdaney et al., Genetics in Medicine, 2022, 20, 374) and compiled data from peer‐reviewed literature, scientific meetings, and clinical experience. We defined and prioritized the outcomes of informed consent, change in reproductive plans, yield in identification of at‐risk carrier pairs/pregnancies, perceived barriers to ECS, amount of provider time spent, healthcare costs, frequency of severely/profoundly affected offspring, incidental findings, uncertain findings, patient satisfaction, and provider attitudes. Despite the recognized barriers to implementation and change in management strategies, this analysis supported implementation of ECS for these outcomes. Based upon the current level of evidence, we recommend ECS be made available for all individuals considering reproduction and all pregnant reproductive pairs, as ECS presents an ethnicity‐based carrier screening alternative which does not rely on race‐based medicine. The final decision to pursue carrier screening should be directed by shared decision‐making, which takes into account specific features of patients as well as their preferences and values. As a periconceptional reproductive risk assessment tool, ECS is superior compared to ethnicity‐based carrier screening in that it both identifies more carriers of AR and XL conditions as well as eliminates a single race‐based medical practice. ECS should be offered to all who are currently pregnant, considering pregnancy, or might otherwise biologically contribute to pregnancy. Barriers to the broad implementation of and access to ECS should be identified and addressed so that test performance for carrier screening will not depend on social constructs such as race.

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Experiences of cystic fibrosis newborn screening and genetic counseling

Foil,

Christon,

Kerrigan

et al. 2023

J Community Genet

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The South Carolina cystic brosis (CF) newborn screening (NBS) program changed in 2019 to include CFTR genotyping for babies with top 4% immunoreactive trypsinogen, which improves sensitivity and timeliness, but increases carrier detection. Carrier identi cation has genetic implications for the family and parents of NBS+ babies have increased emotional distress. Genetic counseling (GC) may increase parent understanding and reduce anxiety yet is not uniformly offered at CF centers. We report our early results after implementing GC for NBS+ families at the time of sweat chloride testing (SCT). Sixteen mothers participated in an online survey about their experience. The child's pediatrician noti ed 10 (62.5%) of the NBS+ result. Parents felt they were noti ed in a timely manner (68.8%), by someone knowledgeable about NBS (62.5%), SCT (62.5%), CF (43.8%), and genetics (43.8%) and who cared about them (81.3%). Parents felt worried (81.3%), confused (81.3%), empowered (25%) and other (sad, shocked, scared, overwhelmed, devastated, defeated). Most (87.5%) sought additional information before SCT.Sadness and anxiety increased transiently with NBS+ result; bondedness with the baby was not affected. Nine mothers received GC with suggestion of reduced distress. Knowledge was high among both cohorts.GC was rated very helpful, informative, comforting, and minimally distracting. Data from this singlecenter study suggest bene t of GC and that families would value earlier contact with an expert. GC may potentially be taught via short course or online module(s) developed by GCs with CF expertise. Such undertakings and outcomes are areas for future study.This study was limited by small sample size at a single center, with GC provided by a single GC at the time of SCT, which limit power in statistical analyses and generalizability of ndings. A larger, multicenter study involving diverse settings, models and GCs would be informative. Ascertainment bias may exist. All participants were mothers and all had at least some college education, which may have impacted resource utilization and knowledge scores. Paternal experiences with CFNBS+ and GC are not known, and fathers are generally underrepresented in research (Bogossian et al., 2019). Although GC at SCT suggests potential reduced anxiety, the clinically meaningful change on the sadness, anxiety and bondedness measures is unknown. Emotional ratings also differed between GC+ and GC-groups before and after GC intervention; thus, the two groups may have other nonrandom differences. Recall bias is also possible.This study contributes to the understanding of parental CFNBS+ experience. Quality improvement initiatives may focus on result delivery, resources, timeline, and professionals involved. Continued engagement of GCs in CFNBS+ is recommended to optimize outcomes. DeclarationsCompliance with Ethics Guidelines: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki ...

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Interest in and uptake of genetic counseling for preconception carrier screening when offered to predominantly white reproductive‐age persons seeking gynecologic care at a single U.S. academic medical center

Cited by 6 publications

References 19 publications

Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive‐aged women in Flanders (Belgium)

Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive‐aged women in Flanders (Belgium)

Expanded carrier screening for reproductive risk assessment: An evidence‐based practice guideline from the National Society of Genetic Counselors

Experiences of cystic fibrosis newborn screening and genetic counseling

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