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.

Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.

Motivations and attitudes of candidate sperm donors in Belgium.

OBJECTIVE: To study the motivation and attitudes of a candidate sperm donor population in Belgium. DESIGN: Anonymous survey. SETTING: Tertiary referral infertility center. PATIENT(S): One hundred candidate sperm donors applying to the center for a first semen analysis between April 2013 and March 2016. INTERVENTION(S): Invitation to complete an anonymous questionnaire. MAIN OUTCOME MEASURE(S): Demographic characteristics, recruitment methods, motivations and attitudes toward payment, donor anonymity, disclosure to offspring, donation to lesbian couples and single women, views on the donor children and social aspects of sperm donation. RESULT(S): The majority of our candidate donor population were older men with a partner who were donating sperm for altruistic reasons. The financial compensation was only an important motivational factor in 31% of the candidate sperm donors. Eighty-two percent of the men said they were willing to reveal nonidentifying information about themselves to donor offspring, but only 26% were willing to donate nonanonymously. The wish to receive certain information about the recipient family and the donor offspring was linked to men who had a partner and a child of their own. CONCLUSION(S): The wish to receive and donate information depends on the characteristics and beliefs of the candidate donors. Also, the donor's characteristics were linked to the acceptance of meeting the offspring in the future: the donors with a partner and donors who said they would donate without financial reimbursement were less willing to meet the donor offspring.

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡.

Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively-parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.

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.

Pertinencia del tamizaje genético en donantes de gametos / The pertinence of genetic screening in gamete donors

Introducción: una preocupación importante para las parejas sometidas a tratamientos de reproducción asistida con gametos donados es la posibilidad de adquirir enfermedades infecciosas o la transmisión de enfermedades genéticas a la descendencia. Existen reportes, basados en la legislación de cada país y en la experiencia de cada centro, que hacen referencia al tipo de evaluación genética, infecciosa y psicológica que deben tener los donantes de gametos. En Colombia no existe una ley específica sobre las técnicas de reproducción asistida y la donación de gametos. Tampoco existe claridad acerca de si los donantes deberían ser evaluados genéticamente y con qué tipo de pruebas. Objetivo: el objetivo de este documento es hacer una reflexión sobre la pertinencia de evaluar genéticamente a los donantes de gametos a partir de la caracterización de las principales condiciones genéticas prevalentes en nuestra población, la alteración genética de base y el método actual de diagnóstico genético. Conclusión: se concluye que es necesario desarrollar un protocolo claro a nivel nacional y en los centros de reproducción asistida a cerca de la evaluación genética en los pacientes donantes de gametos.

Introduction: A major concern for pairs undergoing assisted reproduction treatment with donated gametes is the possibility of acquiring infectious diseases or transmitting genetic diseases to their offspring. Some reports have been based on the legislation of each country and each centre’s experience referring to the type of genetic infectious and/or psychological evaluation which gamete donors must undergo. There is no specific law in Colombia about assisted reproduction and/ or gamete donor techniques; also, there is no clarity about whether donors should be genetically evaluated and which type of test should be used for this. Objective: This document was aimed at making a reflection about the pertinence of genetically evaluating gamete donors by characterising the main genetic conditions prevailing in the Colombian population, base genetic alteration and the method currently being used for genetic diagnosis. Conclusion: It was concluded that a clear national protocol must be developed about genetic evaluation in gamete-donating patients; this should also be done in assisted reproduction centres.