scholarly journals Introduction of expanded carrier screening by a large sperm bank improves preconceptual care without altering acceptability of sperm donors

2018 ◽  
Vol 110 (4) ◽  
pp. e57-e58
Author(s):  
T.G. Nazem ◽  
D. Gounko ◽  
S. Chang ◽  
J. Lee ◽  
P. Callum ◽  
...  
Keyword(s):  
Carrier Screening ◽  
Expanded Carrier Screening ◽  
Sperm Donors ◽  
Sperm Bank

P–537 What is the attitude of gamete donors towards expanded genetic testing

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
A B Skytte ◽  
A Pacey ◽  
J Rothma. Herrmann ◽  
E Mocanu ◽  
C Burke ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Response Rate ◽  
Empirical Studies ◽  
The United States ◽  
Hereditary Disease ◽  
Carrier Screening ◽  
Main Element ◽  
Potential Donor ◽  
Expanded Carrier Screening ◽  
Sperm Bank

Abstract Study question What is the opinion of gamete donors on extended carrier screening in Denmark and in US? Summary answer This study showed that the overwhelming majority of the donors were very positive towards genetic testing in general and the expanded carrier screening. What is known already There is a lack of empirical studies on the experiences of and attitudes of donors towards expanded carrier screening (ECS) (Amor et al. 2018). Oocyte donors in a Spanish clinic were surprised by the information on testing and the possibility of being carriers (Abuli et al., 2016). After adequate genetic counselling before and after the test, the results of testing did not seem to have a meaningful emotional or psychological impact on the donors. Study design, size, duration A questionnaire was emailed to all active sperm donors in a sperm bank in Denmark and in a sperm bank in US. Participants/materials, setting, methods A total of 393 donors received the email of which 233 donors completed the questionnaire, 196 in Denmark (response rate of 60.7%) and 37 in the United States (response rate of 52.9%). Main results and the role of chance We systematically compared the US and DK donors and ID-release versus non-ID-release donors for all characteristics and items. ID-release donors with a partner significantly more informed their partner about their donor status than non-ID-release donors (90.5% vs. 72.4%, p 0.027). ID-release donors significantly more intended to tell their own children (57.5% vs. 21.2%, p 0.001). ID-release donors significantly more thought about their potential donor children (56.2% vs. 35.0%; p 0.002) and significantly more likely to want information on whether a pregnancy occurred from their donation (70.6% vs. 55.0%, p 0.017). In addition, they also significantly more wished to obtain information about the children conceived with their sperm: the number of children (64.0% vs. 50.0%, p 0.048), their gender (40% vs. 26.2%, p 0.042), and their health (59.3% vs. 42.5%, p 0.018). The ID-release donors were much less likely than the other type not to want any information (19.3% vs. 32.5%, p 0.034). This general attitude is extended to the wish to be informed if a child with a hereditary disease is born after using their sperm. The ID-release donors were more likely to desire contact if their genetic child was diagnosed with a genetic disease (73.9% vs. 55.0%, p 0.003). Limitations, reasons for caution The main element that makes the study unique (i.e., the choice between ID-release and non-ID-release) also renders the generalization of the findings more difficult. Wider implications of the findings: A better understanding of the attitude among gamete doners will possibly guide future legislation and ensure the safety and welfare of the donors too. Trial registration number none

P–539 The use of expanded carrier screening of gamete donors

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
M Payne ◽  
A B Skytte ◽  
J Harper
Keyword(s):  
Web Sites ◽  
Muscular Atrophy ◽  
Carrier Screening ◽  
Carrier Status ◽  
National Guidelines ◽  
Expanded Carrier Screening ◽  
Sperm Donors ◽  
International Panel ◽  
Registration Number ◽  
Alpha Thalassaemia

Abstract Study question What are the sperm and egg donor rejection rates after expanded carrier screening (ECS)? Summary answer Using an ECS panel looking at 46/47 genes, 17.6% of donors were rejected. What is known already The use of ECS is becoming commonplace in assisted reproductive technology, including testing of egg and sperm donors. Most national guidelines recommend rejection of donors if they are carriers of a genetic disease. If the use of ECS increases, there will be a decline in the number of donors available. Study design, size, duration A review of the current preconception ECS panels available to donors was carried out through an online search. The genetic testing results of donors from Cryos International were analysed to determine how many were rejected on the basis of the ECS. Participants/materials, setting, methods Data on gamete donors and their carrier status was provided by Cryos International, who screen donors using their own bespoke ECS panel. The ECS panels identified through the review were compared to the Cryos International panel and data. Main results and the role of chance A total of 16 companies and 42 associated ECS panels were reviewed. There were a total of 2673 unique disorders covered by the panels examined, with a mean of 329 disorders screened. None of these disorders were common to all panels. Cryos International screen 46 disorders in males and 47 in females. From 883 candidate donors, 17.6% (155/883) were rejected based on their ECS result. Carriers of alpha-thalassaemia represented the largest proportion of those rejected (19.4%, 30/155), then spinal muscular atrophy (15.5%, 24/155) and cystic fibrosis (14.8%, 23/155). Limitations, reasons for caution Panel information was found on company web sites and may not have been accurate. Wider implications of the findings: This study highlights the need for consistent EU regulations and guidelines which allow genetic matching of gamete donors to recipients, preventing the need to reject donors who are known carriers. A larger ECS panel would be most beneficial, however, this would not be viable without matching of donors and recipients. Trial registration number Not applicable

scholarly journals Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer

2021 ◽  
Author(s):  
Ivy van Dijke ◽  
Phillis Lakeman ◽  
Naoual Sabiri ◽  
Hanna Rusticus ◽  
Cecile P. E. Ottenheim ◽  
...  
Keyword(s):  
High Risk ◽  
Medical Center ◽  
Informed Choice ◽  
Carrier Screening ◽  
University Hospital ◽  
Structured Interviews ◽  
Expanded Carrier Screening ◽  
Post Test ◽  
Future Child ◽  
Clinically Significant

AbstractPreconception carrier screening offers couples the possibility to receive information about the risk of having a child with a recessive disorder. Since 2016, an expanded carrier screening (ECS) test for 50 severe autosomal recessive disorders has been available at Amsterdam Medical Center, a Dutch university hospital. This mixed-methods study evaluated the experiences of couples that participated in the carrier screening offer, including high-risk participants, as well as participants with a general population risk. All participants received genetic counselling, and pre- (n = 132) and post-test (n = 86) questionnaires and semi-structured interviews (n = 16) were administered. The most important reason to have ECS was to spare a future child a life with a severe disorder (47%). The majority of survey respondents made an informed decision (86%), as assessed by the Multidimensional Measure of Informed Choice. Among the 86 respondents, 27 individual carriers and no new carrier couples were identified. Turn-around time of the test results was considered too long and costs were perceived as too high. Overall, mean levels of anxiety were not clinically elevated. High-risk respondents (n = 89) and pregnant respondents (n = 13) experienced higher levels of anxiety before testing, which decreased after receiving the test result. Although not clinically significant, distress was on average higher for carriers compared to non-carriers (p < 0.0001). All respondents would opt for the test again, and 80.2% would recommend it to others. The results suggest that ECS should ideally be offered before pregnancy, to minimise anxiety. This study could inform current and future implementation initiatives of preconception ECS.

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 Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists’ views

2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Sandra Janssens ◽  
Davit Chokoshvili ◽  
Danya F. Vears ◽  
Anne De Paepe ◽  
Pascal Borry
Keyword(s):  
Carrier Screening ◽  
Expanded Carrier Screening

Expanded Carrier Screening and Professional Society Guidelines

2018 ◽  
Vol 131 ◽  
pp. 54S
Author(s):  
Maggie Westemeyer ◽  
Jennifer Saucier ◽  
Bert Gold ◽  
Herman Hedriana ◽  
Kimberly A. Martin
Keyword(s):  
Carrier Screening ◽  
Professional Society ◽  
Expanded Carrier Screening

scholarly journals Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions

2019 ◽  
Author(s):  
Marie Balzotti ◽  
Linyan Meng ◽  
Dale Muzzey ◽  
Katherine Johansen Taber ◽  
Kyle Beauchamp ◽  
...  
Keyword(s):  
Experimental Evidence ◽  
Strong Evidence ◽  
Clinical Guidelines ◽  
Disease Association ◽  
Carrier Screening ◽  
Clinical Validity ◽  
Expanded Carrier Screening ◽  
Acceptable Method ◽  
Consistent Application

AbstractObjectiveClinical guidelines consider expanded carrier screening (ECS) to be an acceptable method of carrier screening. However, broader guideline support and payer adoption require evidence for associations between the genes on ECS panels and the conditions for which they aim to identify carriers. We applied a standardized framework for evaluation of gene-disease association to assess the clinical validity of conditions screened by ECS panels.MethodsThe ClinGen gene curation framework was used to assess genetic and experimental evidence of associations between 208 genes and conditions screened on two commercial ECS panels. Twenty-one conditions were previously classified by ClinGen, and the remaining 187 were evaluated by curation teams at two laboratories. To ensure consistent application of the framework across the laboratories, concordance was evaluated on a subset of conditions.ResultsAll 208 evaluated conditions met the evidence threshold for supporting a gene-disease association. Furthermore, 203 of 208 (98%) achieved the strongest (“Definitive”) level of gene-disease association. All conditions evaluated by both commercial laboratories were similarly classified.ConclusionAssessment using the ClinGen standardized framework revealed strong evidence of gene-disease association for conditions on two ECS panels. This result establishes the disease-level clinical validity of the panels considered herein.

Expanded Carrier Screening and the Complexity of Implementation

2021 ◽  
Vol 137 (2) ◽  
pp. 345-350
Author(s):  
Julia Silver ◽  
Mary E. Norton
Keyword(s):  
Carrier Screening ◽  
Expanded Carrier Screening
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