What women want: General population perspectives and access to preconception expanded carrier screening

2021 ◽  
Author(s):  
Liya Rabkina ◽  
Amy Swanson ◽  
Sharon Aufox ◽  
Lauren Propst ◽  
Morris Fiddler ◽  
...  
Keyword(s):  
General Population ◽  
Carrier Screening ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening

scholarly journals Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population

2021 ◽  
Author(s):  
Thirsa Conijn ◽  
Ivy van Dijke ◽  
Lotte Haverman ◽  
Phillis Lakeman ◽  
Frits A Wijburg ◽  
...  
Keyword(s):  
General Population ◽  
Focus Groups ◽  
Autosomal Recessive Disorder ◽  
Carrier Screening ◽  
Test Results ◽  
Focus Group Study ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening ◽  
Mps Iii ◽  
Prospective Parents

AbstractPreconception expanded carrier screening (ECS) enables prospective parents to assess their risk of having a child with an autosomal recessive disorder. Knowledge on motivations, feelings, and considerations people have towards the offer and use of ECS is limited. To enrich the public and professional discussion on ECS implementation, this study explored the perspectives towards various aspects of ECS in seven focus groups compromising first- and second-degree relatives of MPS III patients (N=9, N=4, N=5, N=5) and members of the general Dutch population (N=6, N=7, N=5). The focus groups were audio recorded and the transcripts were qualitatively analyzed to identify themes. Both relatives of MPS III patients and participants from the general population supported offering ECS, in particular for severe, childhood-onset disorders. Important barriers identified for ECS were a lack of genetic knowledge and a perceived lack of personal relevance and awareness, as well as out-of-pocket costs of testing. The majority of participants would prefer full disclosure of individual test results instead of couple-based test results. Moreover, offering people a choice for the way of reporting was proposed. All participants agreed that more efforts, for example by governmental campaigns, should be made to increase awareness on the availability, potentials, and limitations of ECS. Educating prospective parents about ECS is essential for increasing awareness and informed decision making. This study provides valuable insights that can be used by governments and public health authorities when considering implementation of preconception ECS.

scholarly journals Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes

2020 ◽  
Author(s):  
Thirsa Conijn ◽  
Stephanie C. M. Nijmeijer ◽  
Phillis Lakeman ◽  
Lidewij Henneman ◽  
Frits A. Wijburg ◽  
...  
Keyword(s):  
Carrier Screening ◽  
Genetic Knowledge ◽  
Expanded Carrier Screening ◽  
Knowledge And Attitudes ◽  
Preconception Expanded Carrier Screening

scholarly journals Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening

2020 ◽  
Vol 28 (10) ◽  
pp. 1331-1340
Author(s):  
Stephanie C. M. Nijmeijer ◽  
Thirsa Conijn ◽  
Phillis Lakeman ◽  
Lidewij Henneman ◽  
Frits A. Wijburg ◽  
...  
Keyword(s):  
Carrier Screening ◽  
Mucopolysaccharidosis Type ◽  
Expanded Carrier Screening ◽  
Type Iii ◽  
Mucopolysaccharidosis Type Iii ◽  
Preconception Expanded Carrier Screening

scholarly journals Corrigendum to: The ethics of preconception expanded carrier screening in patients seeking assisted reproduction

2021 ◽  
Vol 2021 (2) ◽  
Author(s):  
Guido de Wert ◽  
Sanne van der Hout ◽  
Mariëtte Goddijn ◽  
Rita Vassena ◽  
Lucy Frith ◽  
...  
Keyword(s):  
Assisted Reproduction ◽  
Carrier Screening ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening

scholarly journals Public Knowledge about Monogenic Diseases and Attitudes Toward Expanded Carrier Screening in China

2021 ◽  
Author(s):  
Jing Yang ◽  
Min Chen ◽  
Heli Wu ◽  
Wei Shen ◽  
Jianmei Han ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
General Population ◽  
Ethnic Groups ◽  
Medical Staff ◽  
Carrier Screening ◽  
Monogenic Disease ◽  
Public Knowledge ◽  
Qr Code ◽  
Expanded Carrier Screening ◽  
Monogenic Diseases

Abstract Monogenic diseases affect about 10 in 1000 live births globally and account for 20% of infant mortality and 18% of pediatric hospitalizations. Many monogenic disorders could be prevented by offering expanded carrier screening (ECS) to the general population. China is a densely populated country with 56 ethnic groups and a high incidence of congenital disabilities. Genetic variation in different ethnic groups in China has been reported. At present, the implementation of ECS in China is sporadic. There is limited data on the knowledge and acceptance of ECS in China. The purpose of our study was to assess public knowledge about monogenic diseases and attitudes toward ECS in China. Our study classified the population into the medical staff and general population to evaluate the knowledge gap and provide a reference for ECS's education programs. Using the Questionnaire Star platform, we provided the QR code of the questionnaire survey online for the general public nationwide. The respondents filled in the questionnaires through the mobile phone after scanning the WeChat QR code. We found that although the public had little knowledge about monogenic disease and ECS, most of them showed a positive attitude. Our cross-analysis showed that medical staff had more knowledge compared to the general population. Pre-test education for ECS can be carried out by medical staff who are not qualified for genetic counseling. ECS training for medical staff, especially obstetrician-gynecologist and nurse in the department of Obstetrics and Gynecology, can reduce the workload of genetic counseling.

ACMG Position Statement on Prenatal/Preconception Expanded Carrier Screening

2013 ◽  
Vol 68 (12) ◽  
pp. 785-787 ◽  
Author(s):  
Wayne W. Grody ◽  
Barry H. Thompson ◽  
Anthony R. Gregg ◽  
Lora H. Bean ◽  
Kristin G. Monaghan ◽  
...  
Keyword(s):  
Position Statement ◽  
Carrier Screening ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening

scholarly journals Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature

2020 ◽  
Vol 26 (3) ◽  
pp. 335-355 ◽  
Author(s):  
Eva Van Steijvoort ◽  
Davit Chokoshvili ◽  
Jeffrey W Cannon ◽  
Hilde Peeters ◽  
Karen Peeraer ◽  
...  
Keyword(s):  
Systematic Review ◽  
General Population ◽  
Empirical Studies ◽  
Carrier Screening ◽  
Perceived Usefulness ◽  
Cochrane Library ◽  
Expanded Carrier Screening ◽  
Increased Risk ◽  
Uptake Rates ◽  
Prospective Parents

Abstract BACKGROUND Through carrier screening, prospective parents can acquire information about whether they have an increased risk of conceiving a child affected with an autosomal recessive or X-linked condition. Within the last decade, advances in genomic technologies have facilitated a shift from condition-directed carrier screening to expanded carrier screening (ECS). Following the introduction of ECS, several studies have been performed to gauge the interest in this new technology among individuals and couples in the general population. OBJECTIVE AND RATIONALE The aim of this systematic review was to synthesize evidence from empirical studies that assess the interest in ECS among individuals and couples in the general population. As the availability and accessibility of ECS grow, more couples who are a priori not at risk based on their personal or family history will be presented with the choice to accept or decline such an offer. Their attitudes and beliefs, as well as the perceived usefulness of this screening modality, will likely determine whether ECS is to become a widespread reproductive genetic test. SEARCH METHODS Four databases (Pubmed, Web of Science, CINAHL, Cochrane Library) were systematically searched to identify English language studies performed between January 2009 and January 2019 using the following search terms: carrier screening, carrier testing, attitudes, intention, interest, views, opinions, perspectives and uptake. Studies were eligible for inclusion if they reported on intentions to undergo a (hypothetical) ECS test, uptake of an actual ECS offer or both. Two researchers performed a multistep selection process independently for validation purposes. OUTCOMES Twelve empirical studies performed between 2015 and 2019 were included for analysis. The studies originated from the USA (n = 6), the Netherlands (n = 3), Belgium (n = 1), Sweden (n = 1) and Australia (n = 1). The sample size of the studies varied from 80 to 1669. In the included studies, 32%–76% of respondents were interested in a (hypothetical) ECS test, while uptake rates for actual ECS offers ranged from 8% to 50%. The highest overall uptake was observed when ECS was offered to pregnant women (50%). By contrast, studies focusing on the preconception population reported lower overall uptake rates (8–34%) with the exception of one study where women were counseled preconception in preparation for IVF (68.7%). WIDER IMPLICATIONS Our findings suggest that there may be discrepancies between prospective parents’ reported intentions to undergo ECS and their actual uptake, particularly during the preconception period. As ECS is a new and relatively unknown test for most future parents, the awareness and comprehension within the general population could be rather limited. Adequate pre- and post-test counseling services should be made available to couples offered ECS to ensure informed reproductive decision-making, together with guidelines for primary health care professionals. Due to restricted nature of the samples and methods of the underlying primary studies, some of the reported results might not be transferable to a broader population. More research is needed to see if the observed trends also apply to a broader and more diverse population.

Sign in / Sign up

Export Citation Format

Share Document