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

scholarly journals INTRODUCTION OF EXPANDED CARRIER SCREENING (ECS) HAS INCREASED REFERRALS FOR PREIMPLANTATION GENETIC TESTING FOR MONOGENIC CONDITIONS (PGT-M)

2021 ◽  
Vol 116 (3) ◽  
pp. e382-e383
Author(s):  
Rachel Mnushkin ◽  
Savanie Maithripala ◽  
Agnes Machaj ◽  
Svetlana Rechitsky ◽  
Anver Kuliev
Keyword(s):  
Genetic Testing ◽  
Carrier Screening ◽  
Preimplantation Genetic Testing ◽  
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.

scholarly journals National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer

2017 ◽  
Vol 35 (34) ◽  
pp. 3800-3806 ◽  
Author(s):  
Christopher P. Childers ◽  
Kimberly K. Childers ◽  
Melinda Maggard-Gibbons ◽  
James Macinko
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Unmet Need ◽  
Cancer Control ◽  
The United States ◽  
Eligibility Criteria ◽  
Cross Sectional ◽  
Age Of Diagnosis ◽  
History Of ◽  
Interview Survey

Purpose In the United States, 3.8 million women have a history of breast (BC) or ovarian cancer (OC). Up to 15% of cases are attributable to heritable mutations, which, if identified, provide critical knowledge for treatment and preventive care. It is unknown how many patients who are at high risk for these mutations have not been tested and how rates vary by risk criteria. Methods We used pooled cross-sectional data from three Cancer Control Modules (2005, 2010, 2015) of the National Health Interview Survey, a national in-person household interview survey. Eligible patients were adult females with a history of BC and/or OC meeting select 2017 National Comprehensive Cancer Network eligibility criteria on the basis of age of diagnosis and family history. Outcomes included the proportion of individuals reporting a history of discussing genetic testing with a health professional, being advised to undergo genetic testing, or undergoing genetic testing for BC or OC. Results Of 47,218 women, 2.7% had a BC history and 0.4% had an OC history. For BC, 35.6% met one or more select eligibility criteria; of those, 29.0% discussed, 20.2% were advised to undergo, and 15.3% underwent genetic testing. Testing rates for individual eligibility criteria ranged from 6.2% (relative with OC) to 18.2% (diagnosis ≤ 45 years of age). For OC, 15.1% discussed, 13.1% were advised to undergo, and 10.5% underwent testing. Using only four BC eligibility criteria and all patients with OC, an estimated 1.2 to 1.3 million individuals failed to receive testing. Conclusion Fewer than one in five individuals with a history of BC or OC meeting select National Cancer Comprehensive Network criteria have undergone genetic testing. Most have never discussed testing with a health care provider. Large national efforts are warranted to address this unmet need.

scholarly journals Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1278
Author(s):  
Michael Glenn O’Connor ◽  
Amjad Horani ◽  
Adam J. Shapiro
Keyword(s):  
Genetic Testing ◽  
North America ◽  
North American ◽  
Primary Ciliary Dyskinesia ◽  
Clinical Phenotype ◽  
The United States ◽  
Diagnostic Process ◽  
The North ◽  
Diagnostic Guideline ◽  
Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD) is a rare, under-recognized disease that affects respiratory ciliary function, resulting in chronic oto-sino-pulmonary disease. The PCD clinical phenotype overlaps with other common respiratory conditions and no single diagnostic test detects all forms of PCD. In 2018, PCD experts collaborated with the American Thoracic Society (ATS) to create a clinical diagnostic guideline for patients across North America, specifically considering the local resources and limitations for PCD diagnosis in the United States and Canada. Nasal nitric oxide (nNO) testing is recommended for first-line testing in patients ≥5 years old with a compatible clinical phenotype; however, all low nNO values require confirmation with genetic testing or ciliary electron micrograph (EM) analysis. Furthermore, these guidelines recognize that not all North American patients have access to nNO testing and isolated genetic testing is appropriate in cases with strong clinical PCD phenotypes. For unresolved diagnostic cases, referral to a PCD Foundation accredited center is recommended. The purpose of this narrative review is to provide insight on the North American PCD diagnostic process, to enhance the understanding of and adherence to current guidelines, and to promote collaboration with diagnostic pathways used outside of North America.

scholarly journals Medical Student Attitudes Toward Blood Donation in Times of Increased Need

2021 ◽  
pp. 000313482110110
Author(s):  
Rahima Khatun ◽  
Banan W. Otaibi ◽  
Anna Ssentongo ◽  
Joshua P. Hazelton ◽  
AmandaB. Cooper
Keyword(s):  
Medical Students ◽  
Student Attitudes ◽  
Response Rate ◽  
Blood Donation ◽  
Multivariable Analysis ◽  
The United States ◽  
Mass Casualty ◽  
Academic Institution ◽  
Donor Pool ◽  
Willingness To Donate

Background In situations of increased need, such as mass casualty incidents (MCIs) and COVID-19, donated blood products are in shortage across the United States. Medical students are a potential pool for blood donors. The aim of this study was to determine overall attitudes of medical students at a single academic institution toward blood donation during times of increased need. Methods Three anonymous REDCap surveys were administered to all medical students at a rural academic institution. Surveys 1 and 2 were administered preceding and after an institution-wide MCI drill, in September and November 2019, respectively. Survey 3 was administered following a student-organized COVID-19 blood drive in June 2020. Multivariable analysis was performed to determine if factors, ie, experience with MCI drills and emergency medical services (EMS) training, were associated with willingness to donate blood. Furthermore, barriers to donation among those not willing to donate were assessed. Results Overall response rate for MCI surveys (surveys 1 and 2) was 38% (mean age 25.2 years and 50% women). 91% (n = 210) of respondents were willing to donate blood. Previous participation in MCI drills and EMS training was not associated with higher willingness to donate blood. Response rate for survey 3 was 15.6% (59.4% women), and 30 (31.3%) respondents indicated they did not volunteer to donate blood during the COVID-19 drive. Most common reasons for not donating were “other,” medical concerns, and being out-of-town. Conclusions Majority of medical students are willing to donate blood during times of increased need and offer a possible solution to increase blood donor pool.

scholarly journals Osteopathic empirical research: a bibliometric analysis from 1966 to 2018

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Chantal Morin ◽  
Isabelle Gaboury
Keyword(s):  
Bibliometric Analysis ◽  
Empirical Research ◽  
Scientific Literature ◽  
Case Reports ◽  
Empirical Studies ◽  
Body Part ◽  
The United States ◽  
Mesh Terms ◽  
Research Designs ◽  
System Body

Abstract Background Despite the increasing use of osteopathy, a manipulative complementary and alternative medicine therapy, in the general population, its efficacy continues to be debated. In this era of evidence-based practice, no studies have previously reviewed the scientific literature in the field to identify published knowledge, trends and gaps in empirical research. The aims of this bibliometric analysis are to describe characteristics of articles published on the efficacy of osteopathic interventions and to provide an overall portrait of their impacts in the scientific literature. Methods A bibliometric analysis approach was used. Articles were identified with searches using a combination of relevant MeSH terms and indexing keywords about osteopathy and research designs in MEDLINE and CINAHL databases. The following indicators were extracted: country of primary author, year of publication, journals, impact factor of the journal, number of citations, research design, participants’ age group, system/body part addressed, primary outcome, indexing keywords and types of techniques. Results A total of 389 articles met the inclusion criteria. The number of empirical studies doubled every 5 years, with the United States, Italy, Spain, and United Kingdom being the most productive countries. Twenty-three articles were cited over 100 times. Articles were published in 103 different indexed journals, but more than half (53.7%) of articles were published in one of three osteopathy-focused readership journals. Randomized control trials (n = 145; 37.3%) and case reports (n = 142; 36.5%) were the most common research designs. A total of 187 (48.1%) studies examined the effects of osteopathic interventions using a combination of techniques that belonged to two or all of the classic fields of osteopathic interventions (musculoskeletal, cranial, and visceral). Conclusion The number of osteopathy empirical studies increased significantly from 1980 to 2014. The productivity appears to be very much in sync with practice development and innovations; however, the articles were mainly published in osteopathic journals targeting a limited, disciplinary-focused readership.

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.

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