Swedish parents’ interest in preconception genetic carrier screening

Ragnar, Maria Ekstrand; Tydén, Tanja; Kihlbom, Ulrik; Larsson, Margareta

doi:10.1080/03009734.2016.1218575

Cited by 24 publications

(13 citation statements)

References 25 publications

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“…The CSER project with the highest rate of decline was the NextGen site at Kaiser Permanente, which was the only site performing GS for carrier status in healthy adults. Genetic professionals express high interest in offering expanded carrier screening (Lazarin et al 2016); however, uncertainty and concern about negative consequences have been cited by patients (Ekstrand Ragnar et al 2016;Schneider et al 2016). Thus, it is possible that offering GS in the context of reproductive planning could warrant unique considerations.…”

Section: Discussionmentioning

confidence: 99%

Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium

Amendola

Robinson

Hart

et al. 2018

Journal of Genetic Counseling

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Clinical and research settings are increasingly incorporating genomic sequencing (GS) technologies. Previous research has explored reasons for declining genetic testing and participation in genetic studies; however, there is a dearth of literature regarding why potential participants decline participation in GS research, and if any of these reasons are unique to GS. This knowledge is essential to promote informed decision-making and identify potential barriers to research participation and clinical implementation. We aggregated data from seven sites across the National Institutes of Health’s Clinical Sequencing Exploratory Research (CSER) consortium on each project’s procedures for recruitment, and rates of and reasons for decline. Data were analyzed using descriptive statistics. The decline rate for enrollment at the seven CSER sites ranged from 12 to 64% (median 28%) and varied based on age and disease status. Projects differed in their protocols for approaching potential participants and obtaining informed consent. Reasons for declining GS research were reported for 1088 potential participants. Commonly cited reasons were similar to those reported for clinical single gene testing and non-GS genetic research. The most frequently cited reason for decline was study logistics (35%); thus, addressing logistical barriers to enrollment may positively impact GS study recruitment. Privacy and discrimination concerns were cited by 13% of decliners, highlighting the need for researchers and providers to focus educational efforts in this area. The potential psychological burden of pursuing and receiving results from GS and not wanting to receive secondary findings, a concern specific to GS, have been cited as concerns in the literature. A minority of potential participants cited psychological impact (8%) or not wanting to receive secondary findings (2%) as reasons for decline, suggesting that these concerns were not major barriers to participation in these GS studies. Further research is necessary to explore the impact, if any, of different participant groups or study protocols on rates of decline for GS studies. Future studies exploring GS implementation should consider using standardized collection methods to examine reasons for decline in larger populations and more diverse healthcare settings.

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Section: Discussionmentioning

confidence: 99%

Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium

Amendola

Robinson

Hart

et al. 2018

Journal of Genetic Counseling

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“…The finding that women who had gone through another method of fetal diagnostics were more interested both in sex determination and sex selection did not come as a surprise. In a subsample of this cohort and their partners, an association between an interest in preconception genetic carrier screening (PCS), experiences of prenatal diagnostics, and wanting to find out or select the sex of their child was found ( 36 ).…”

Section: Discussionmentioning

confidence: 99%

Do pregnant women want to know the sex of the expected child at routine ultrasound and are they interested in sex selection?

Larsson

Berglund

Jarl

et al. 2017

Upsala Journal of Medical Sciences

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BackgroundThe aim of the study was to investigate if expecting parents wanted to know the sex of the fetus during ultrasound examination and if they had discussed it with the midwife. Another aim was to explore any interest in sex selection.MethodsA longitudinal survey in early and late pregnancy among 2393 women in Sweden.ResultsAlmost all (95.8%, n = 2289) women had discussed sex determination with the partner before the ultrasound scan, and 57% (n = 1356) of women and their partners wanted to find out the fetal sex. The expecting parents mostly initiated a discussion with the midwife (46%, n = 1088), but 10% (n = 229) stated that the midwives initiated the discussion. Few (5%, n = 118) expressed a potential interest in selecting sex of a baby. Women who were interested in sex determination did not differ from those who were not, with respect to age, origin, education, parity, level of pregnancy planning, or importance of religion, but women who had chosen another fetal diagnostic method were more interested in sex determination and in potential sex selection.ConclusionsHalf of women and their partners wanted to know the fetal sex, and 5% were interested in sex selection. This high interest in sex determination is a challenge, since present national guidelines do not include sex determination as an option.

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“…Some studies that included individuals of reproductive age have found general interest in expanded carrier screening. 35,36 A survey of 777 Swedish parent couples 51 found that about one-third of couples were interested in preconception carrier screening, just under one-third were not, and the remainder were uncertain. The authors attributed the range of interest in part to relatively low knowledge of carrier screening, which was neither standard of care nor marketed to consumers in Sweden.…”

Section: Challenges For Expanded Carrier Screeningmentioning

confidence: 99%

The evolving landscape of expanded carrier screening: challenges and opportunities

Kraft

Duenas

Wilfond

et al. 2019

Genetics in Medicine

113

125

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Carrier screening allows individuals to learn their chance of passing on an autosomal or X-linked condition to their offspring. Initially introduced as single-disease, ancestry-based screening, technological advances now allow for the possibility of multi-disease, pan-ethnic carrier screening, which we refer to as “expanded carrier screening.” There are numerous potential benefits to expanded carrier screening, including maximizing the opportunity for couples to make autonomous reproductive decisions, and efficiency and marginal additional costs of including more conditions if the test is already being offered. While numerous laboratories currently offer expanded carrier screening services, it is not yet commonly used in clinical practice, and there is a lack of consensus among experts about the service, including whether this should be offered to individuals and couples, whether this should be offered preconception or prenatally, and what conditions to include in screening programs. Challenges for expanded carrier screening programs include a lack of demand from the public, low prioritization by health systems, the potential for pressure to undergo screening, the possibility of disability-based discrimination, needed adaptations to pre- and post-test counseling, technical limitations, and the evolving technological and socio-political landscape.

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Swedish parents’ interest in preconception genetic carrier screening

Cited by 24 publications

References 25 publications

Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium

Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium

Do pregnant women want to know the sex of the expected child at routine ultrasound and are they interested in sex selection?

The evolving landscape of expanded carrier screening: challenges and opportunities

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