Sperm donor attitudes and experiences on direct-to-consumer genetic testing

Introduction: Direct-to-consumer (DTC) genetic testing provides a way for genetically linked persons to connect, threatening the anonymity promised by sperm banks to past sperm donors. This study will assess whether these testing resources have changed attitudes of previous donors on donation and their likelihood to donate again. Methods: A cross-sectional survey was distributed to sperm donors between 1980 and 2020 at Fairfax Cryobank, measuring variables including demographics and donor attitudes on DTC testing. The Qualtrics survey platform aggregated responses and descriptive statistics were used to report outcomes. Results: Of the 364 responses, 72.8% of donors had not participated in DTC genetic testing, only 13.4% of which responded was due to not wanting themselves identifiable to potential donor conceived offspring. Of the donors who were contacted by offspring, 56.3% were identified via DTC testing databases. Despite this fact, a majority of respondents (31.3%) reported being neither comfortable nor uncomfortable with testing companies sharing the identity of genetically related persons, with only 19.9% being extremely comfortable and 12.1% being extremely uncomfortable. Notably, 62.1% of donors would donate sperm again knowing their anonymity is no longer guaranteed. Discussion: Results suggest that the prevalence of DTC genetic testing has not significantly impacted attitudes towards donation, and that most donors would likely donate again. The inquiry question was answered but the hypothesis was disproven, as a more negative response to testing was expected. While some respondents did feel strongly against donation without guaranteed anonymity, sperm banks can rest assured that donor numbers will not significantly decrease with this resource

Sperm donor attitudes and experiences with direct-to-consumer genetic testing.

OBJECTIVE: To identify factors influencing sperm donor willingness to participate in direct-to-consumer genetic testing, comfort with sharing genetically identifiable data in commercial genetic testing databases, and likelihood to donate sperm again. DESIGN: Cross-sectional online anonymous survey. SETTING: Multicenter, 2 large American sperm banks from July 1, 2020 to July10, 2021. PATIENTS: Sperm donors from 1980 to 2020. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Associations between donor demographic characteristics, donation history, and attitudes toward direct-to-consumer genetic testing. RESULTS: A total of 396 donors completed the survey. Most donations (61.5%) occurred from 2010 to 2020, and 34.3% were nonidentified donations. Nonidentified donors were less comfortable with their genetic data being shared than open-identity donors (25.4% vs. 43.8%) and were less likely than open-identity donors to donate sperm again (43.3% vs. 72.1%). Donors who donated after the inception of direct-to-consumer genetic testing in 2007 were less likely to participate in commercial genetic testing than those who donated before 2007 (25.8% vs. 37.1%). Most donors (87.4%) have disclosed their donation(s) to current partners, but fewer have disclosed them to their families (56.6%) or children (30.5%). Of the donors who had been contacted by donor-conceived persons, 79.5% were identified via direct-to-consumer genetic testing. Overall, 61.1% of donors would donate again regardless of direct-to-consumer genetic testing. CONCLUSIONS: Direct-to-consumer genetic testing is playing a dynamic role in sperm donor identification, but donors seem willing to donate again. Implication counseling regarding future linkage and contact from donor-conceived persons needs to be standardized for potential donors before donation

A Systematic Review of Reproductive Counseling in Cases of Parental Constitutional Reciprocal Translocation (9;22) Mimicking BCR-ABL1

We aim to determine the spectrum of cytogenetic abnormalities and outcomes in unbalanced offspring of asymptomatic constitutional balanced t(9;22) carriers through a systematic literature review. We also include a case of a constitutional balanced t(9;22) carrier from our institution. Among the 16 balanced t(9;22) carriers in our review, 13 were maternal and 3 were paternal. Of the 15 unbalanced translocation cases identified, 13 were live births, one was a missed abortion, and one resulted in pregnancy termination. The spectrum of established syndromes reported among the live births was the following: trisomy 9p syndrome (6/13), dual trisomy 9p and DiGeorge syndrome (3/13), dual 9q subtelomere deletion syndrome and DiGeorge syndrome (1/13), 9q subtelomere deletion syndrome (1/13), and DiGeorge syndrome (1/13). One unbalanced case did not have a reported syndrome. The phenotype of the unbalanced cases included cardiac abnormalities (5/13), neurological findings (7/13), intellectual disability (6/10), urogenital anomalies (3/13), respiratory or immune dysfunction (3/13), and facial or skeletal dysmorphias (13/13). Any constitutional balanced reciprocal t(9;22) carrier should be counseled regarding the increased risk of having a child with an unbalanced translocation, the spectrum of possible cytogenetic abnormalities, and predicted clinical phenotype for the unbalanced derivative

Sperm donor attitudes and experiences with direct-to-consumer genetic testing

Objective: To identify factors influencing sperm donor willingness to participate in direct-to-consumer genetic testing, comfort with sharing genetically identifiable data in commercial genetic testing databases, and likelihood to donate sperm again. Design: Cross-sectional online anonymous survey. Setting: Multicenter, 2 large American sperm banks from July 1, 2020 to July10, 2021. Patient(s): Sperm donors from 1980 to 2020. Intervention(s): None. Main outcome measure(s): Associations between donor demographic characteristics, donation history, and attitudes toward direct-to-consumer genetic testing. Result(s): A total of 396 donors completed the survey. Most donations (61.5%) occurred from 2010 to 2020, and 34.3% were nonidentified donations. Nonidentified donors were less comfortable with their genetic data being shared than open-identity donors (25.4% vs. 43.8%) and were less likely than open-identity donors to donate sperm again (43.3% vs. 72.1%). Donors who donated after the inception of direct-to-consumer genetic testing in 2007 were less likely to participate in commercial genetic testing than those who donated before 2007 (25.8% vs. 37.1%). Most donors (87.4%) have disclosed their donation(s) to current partners, but fewer have disclosed them to their families (56.6%) or children (30.5%). Of the donors who had been contacted by donor-conceived persons, 79.5% were identified via direct-to-consumer genetic testing. Overall, 61.1% of donors would donate again regardless of direct-to-consumer genetic testing. Conclusion(s): Direct-to-consumer genetic testing is playing a dynamic role in sperm donor identification, but donors seem willing to donate again. Implication counseling regarding future linkage and contact from donor-conceived persons needs to be standardized for potential donors before donation