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 25 publications

(13 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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

View full text Add to dashboard Cite

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.

show abstract

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

View full text Add to dashboard Cite

show abstract

“…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

122

125

View full text Add to dashboard Cite

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.

show abstract

“…On the other hand, a study by Gilmore et al in 2017 explored the patients' reasons for declining preconception ECS, which included time limitation, not wanting the information, and potential anxiety. In addition, some studies have indicated that the majority of patients are uncertain about if they would like ECS or not (Ekstrand Ragnar et al 2016;Plantinga et al 2016).…”

Section: Introductionmentioning

confidence: 99%

Pregnant Women's Perspectives on Expanded Carrier Screening

Propst

Connor

Hinton

et al. 2018

Journal of Genetic Counseling

View full text Add to dashboard Cite

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.

show abstract

Swedish parents’ interest in preconception genetic carrier screening

Cited by 25 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

The evolving landscape of expanded carrier screening: challenges and opportunities

Pregnant Women's Perspectives on Expanded Carrier Screening

Contact Info

Product

Resources

About