P-497 Increasing use of pan-ethnic carrier screening for donor gametes creates new challenges for clinics and recipient counselling
Authors: Sage K , Shaikly V , Isley L , Lynch C 
Published: July 2024

Study question

How can clinics support recipients to understand a positive or negative carrier status following pan-ethnic carrier screening.

Summary answer

A combination of recipient testing and genetic counselling enables the use of donor sperm irrespective of pan-ethnic screening results.

What is known already

Data reported by the HFEA, UK reveals that in 2020, more than half of new donor registrations were from donor imports - 48% were American or Danish in origin, where the level of genetic screening for recessive conditions can vary from 3 to 502 genes. Donor banks generally state that donors are screened to professional guidelines for the countries they supply. Variations in the practice for carrier screening of gamete donors and how this information is shared and charged can be opaque to clinics and complex for recipients to navigate without specialist support to understand relevance and reproductive risk.

Study design, size, duration

This study reports on the number of genetic counselling requests from several IVF clinic referrals in the UK for the period Jan 2020 - Dec 2023. A total of 412 recipients interested in purchasing samples from donors identified as a positive carrier of one or more recessive condition(s) after undergoing extended carrier screening. Referrals for ECS negative donors were not received.

Participants/materials, setting, methods

Recipients were provided with the opportunity of genetic counselling to include the meaning of the carrier status, risk estimates, and options. Recipients were then given the opportunity to review the consultation report and were supported through their subsequent decision-making. The recipient’s choice to accept the risk for using the donor or proceed to counter-screening was evaluated to give insight into the recipient decision-making for accepting risk or wishing to undertake carrier screening.

Main results and the role of chance

UK screening recommendations cumulatively account for only 9.3% of identified mutations within a sperm donor applicant population at a single commercial US sperm bank screened using ECS, highlighting international inconsistencies in donor recruitment and acceptance criteria. 15.3 % (n = 63) of recipients elected to be screened for the conditions their donor was a carrier for, with most opting to be screened on a matched gene panel to provide information for a child and allow future matching with an alternative donor. 84.7% (n = 359) proceeded with treatment without counter screening appreciating their relatively low reproductive risk. Patients who undertake consultation with a genetic professional can understand their reproductive risk for autonomous decision-making, indicating ECS positive results are not a barrier to donor gamete selection for treatment.

Limitations, reasons for caution

ECS panels are variable by commercial provider, donor banks may vary their carrier screening policy or commercial ECS options over time, limiting the findings to the time frame in which the abstract was written

Wider implications of the findings

Review and implementation of carrier screening guidelines are required to ensure consistency and transparency with access to suitably qualified genetics professionals to provide information counselling and genetic testing options. This allows recipients to maintain a level of autonomy for donor selection and may ultimately widen the available donor pool.

Trial registration number

not applicable