Management considerations for clinically relevant findings on expanded carrier screening in a sperm donor applicant population.

Objective: To describe the clinical experience of managing expanded carrier screening (ECS) results in sperm donor applicants at a sperm bank in the United States, including considerations around suitability determination and appropriate education of prospective donors and recipients. Design: A retrospective review of donor genetic screening records from July 2017 to December 2021. Setting: A U.S.-based sperm bank. Patients: Donor applicants at a sperm bank. Intervention: Not applicable. Main Outcome Measures: To examine the rate of potentially significant health risks on the basis of ECS results to inform donor management and donor/recipient counseling considerations. Results: Nearly 2% of donor applicants were identified as having potentially significant health risks on the basis of their ECS results, and most individuals had no clinical manifestations related to these findings. Conclusion: There are unique challenges related to ECS in third-party reproduction for gamete providers, recipients, and their healthcare providers. A collaborative, multidisciplinary approach is necessary to help mitigate risks to donor offspring and maximize patient experience. Informed consent and access to a trained genetics professional are paramount when facilitating ECS on donor applicants and disseminating results to recipients.

Scope of practice distinctions based on primary work setting for genetic counselors in assisted reproductive technologies.

OBJECTIVE: To elucidate the tasks within various work settings that assisted reproductive technologies (ART) genetic counselors believe to be within their scope of practice. DESIGN: A survey was constructed and administered to genetic counselors who practice in the field of ART. SETTING: Genetic counselors were asked to self-identify with a primary ART work setting: genetic testing laboratory (preimplantation genetic testing, carrier screening, or both), in vitro fertilization clinic, gamete donor agency, telegenetic practice (either private practice or telemedicine company), or other. PATIENTS: N/A. INTERVENTIONS: N/A. MAIN OUTCOME MEASURES: The number of years of practice in ART, tasks performed within various ART work settings representing the reality or the ideal, and perception of understanding of the scope of practice by nongenetics colleagues. RESULTS: The majority of respondents reported <10 years of experience in this field. There were differences in what was considered the scope of practice among the various work settings. ART genetic counselors believed that their scope of practice was not well understood by their nongenetics colleagues. They also reported differences between the actual duties performed and what they ideally believed would be within their job function. CONCLUSIONS: The genetic counseling specialty of ART is a new work setting for genetic counselors. There is a need for education regarding the various roles of genetic counselors in ART. Better definition of the appropriate duties for genetic counselors in the various ART work settings is needed to foster effective working relationships with their nongenetics colleagues and optimize patient care.

Comparison of methodologies to detect hemoglobinopathy carriers in a multi-ethnic sperm donor population.

An estimated 7% of the world's population are carriers for a hemoglobin disorder. Current guidelines recommend carrier screening by complete blood count, with follow-up hemoglobin electrophoresis or fractionation based on abnormal result or ethnicity. Advances in molecular genetic testing are thought to increase carrier detection. This study compares carrier screening methodologies in a multi-ethnic sperm donor population. A retrospective analysis was conducted using data from a US sperm bank. All men underwent carrier screening for hemoglobin disorders via complete blood count, hemoglobin fractionation, and molecular testing. Results were compared using counts and percentages. McNemar's exact test was used to examine differences in the marginal probabilities of screening methodologies. Of the 438 tested, 25 (5.7%) were identified as carriers of at least one hemoglobin disorder by molecular testing. Seventeen (68%) of those carriers were missed by recommended methods. No identified carriers were detected by recommended methods but missed by molecular testing. The difference between these discordant pairs was significant (p-value < 0.001). The majority (44%) of carriers were mixed ethnicity, followed by 36% White. Results indicate that molecular screening methodologies have a greater ability to detect carriers of hemoglobin disorders compared to currently recommended methods in a multi-ethnic population.

Management of the risks for inherited disease in donor-conceived offspring.

OBJECTIVE: To illustrate the burden of inherited disease on donor-conceived offspring based on mode of inheritance and to provide guidance on methods of risk reduction. DESIGN: An 8.5-year retrospective review of outcome reports and donor management to summarize medical risks to donor-conceived offspring that presented after the sperm donors were qualified for participation in the donor program. SETTING: Not applicable. PATIENT(S): None. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Description of our experience with newly identified medical risks in donor-conceived offspring as well as how this information was ascertained and managed. RESULT(S): More than half of the indications to restrict donor specimen distribution were due to multifactorial disorders. Approximately one third of the restrictions involved autosomal recessive disorders. The remainder of the restrictions were due to the other indications, including autosomal dominant disorders. CONCLUSION(S): The risks for multifactorial disorders or undiagnosed autosomal dominant disease cannot be significantly reduced or eliminated with routine donor screening procedures. Ongoing risk assessment is essential to identify new genetic risks for autosomal dominant and multifactorial disorders. These assessments require an investment of resources and genetics professionals in the long-term management of changing health information as well as collaboration among gamete facilities, recipients, donors, and their health care providers.

Genetic evaluation procedures at sperm banks in the United States.

OBJECTIVE: To assess how genetic evaluations of sperm donor applicants are performed in the United States. DESIGN: A questionnaire was designed to assess: 1) the professionals involved in the family history evaluation and genetic screening; 2) the genetic testing, counseling, and informed consent processes; and 3) how the results of genetic evaluations and new risk information is communicated to donors. SETTING: Semen donor facilities. PARTICIPANT(S): Representatives of semen donor facilities. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Descriptive data. RESULT(S): Thirteen responses were received. All of the facilities assessed donors' family histories; eight of the facilities (62%) routinely informed donors about the results of these evaluations. At the majority of facilities (10/13), informed consent for genetic testing is obtained as part of the overall contract to be a sperm donor. Genetic counselors are employed full-time at two facilities and part-time at five others. CONCLUSION(S): There is variability in the education and informed consent processes for semen donor applicants, including variable communication about the limitations of genetic tests and the potential implications for the donors' own children. Further research into the best practices for education and consent for sperm donor applicants may be beneficial to ensure the well-being of the donors and their future offspring.