Abstract
BackgroundGamete and embryo donors undergo genetic screening procedures in order to maximise the health of donor-conceived offspring. In the era of genomic medicine, expanded genetic screening may be offered to donors for the purpose of avoiding transmission of harmful genetic mutations. The objective of this study was to explore the attitudes of donors and recipients toward the expanded genetic screening of donors.MethodsQualitative interview study with thematic analysis, undertaken in a tertiary fertility centre. Semi-structured in-depth qualitative interviews were conducted with eleven recipients and nine donors from three different cohorts (sperm, egg and embryo donors/recipients).ResultsDonors and recipients acknowledged the importance of genetic information and were comfortable with the existing level of genetic screening of donors. Recipients recognised some potential benefits of expanded genetic screening of donors; however both recipients and donors were apprehensive about extended genomic technologies, with concerns about how this information would be used and the ethics of genetic selectivity.ConclusionParticipants in donor programs support some level of genetic screening of donors, but are wary of expanding genetic screening beyond current levels.
Highlights
Gamete and embryo donors undergo genetic screening procedures in order to maximise the health of donor-conceived offspring
Plain English summary A relatively small proportion of pregnancies are achieved with the assistance of sperm donors, egg donors or embryo donors
In most assisted reproductive clinics, donors or sperm, eggs or embryos undergo some genetic screening procedures in order to maximise the health of donor-conceived offspring
Summary
Gamete and embryo donors undergo genetic screening procedures in order to maximise the health of donor-conceived offspring. Genetic tests undertaken in donors may include karyotyping and genetic screening for the carrier status of specific conditions such as cystic fibrosis, spinal muscular atrophy, haemoglobinopathies, Tay-Sachs disease and Fragile X syndrome [2, 4, 5]. Despite implementation of these practices, it is inevitable that serious inherited conditions will, on occasion, occur in donor-conceived children or in individuals who have been donors in the past. Most attention has been directed towards expanded carrier screening for autosomal recessive disorders [2, 12, 13], new genetic testing technologies could potentially be used to screen for undiagnosed autosomal dominant disorders and even for susceptibility to some multifactorial diseases [14]
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