Feasibility of couple-based expanded carrier screening offered by general practitioners

Abstract

Expanded carrier screening (ECS) aims to inform couples’ reproductive choice, preferably before conception. As part of an implementation study in which trained general practitioners (GPs) offered a population-based ECS couple-test, we evaluated the feasibility of the test-offer and degree of participant informed choice (IC). Trained GPs from nine practices in the northern Netherlands invited 4295 female patients aged 18–40 to take part in couple-based ECS. Inclusion criteria were having a male partner, planning for children and not being pregnant. We evaluated the feasibility of the organizational aspects, GP competence and the content of the pre-test counselling. Participant satisfaction, evaluation of pre-test counselling and degree of IC were measured using a longitudinal survey. We explored GP experiences and their views on future implementation through semi-structured interviews. 130 consultations took place. All participating GPs were assessed by genetic professionals to be competent to conduct pre-test counselling. Most (63/108 (58%)) consultations took place within the planned 20 min (median 20, IQR 18–28). GPs considered couples’ prior knowledge level an important determinant of consultation length. 91% of patients were (very) satisfied with the GP counselling. After pre-test counselling, 231/237(97%) participants had sufficient knowledge and 206/231(88%) had a positive attitude and proceeded with testing. Our pilot demonstrates that offering couple-based ECS through trained and motivated GPs is feasible. Future large-scale implementation requires a well-informed general public and a discussion about appropriate reimbursement for GPs and health care coverage for couples. Providing (more) test information pre-appointment may help reduce average consultation time.

Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service

“…Further work would be required using samples from both affected patients (with as wide a range of variant types as is relevant to the disorder to be screened for) and a cohort representative of the population to be screened. Although the aim of this study was to assess the potential of targeted NGS in routine NBS, targeted NGS from DBS may also be applicable in a range of other clinical pathways [89–91]. This assay thus provides a basis for further work to develop cost effective, fast, high throughput targeted NGS from DBS.…”

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

“…The size of the gene panel also imposes potential technical constraints, in terms of the requirement to analyze and report large numbers of variants. For this study, the use of a couples-based approach to analysis, with autosomal variants reported only if both partners carry a variant that meets reporting criteria, means that the burden of analysis is markedly reduced compared with reporting individual variant information, removing this as a constraint on panel design [14,15]. A couples-based approach also greatly reduces the genetic counseling requirements for the study [16].…”

Ethical issues in reproductive genetic carrier screening

“…Mackenzie's Mission is one of several large scale population-based RCS initiatives globally that have curated large panels of genes to test using a couplebased model. 5, 10,13 It is important for participants to understand that RCS is designed to provide the couple with information that might help with decisions about reproduction, rather than to convey genetic risk information for their own health. Participants will also be encouraged and supported to reflect on their values and their goals for testing, to help them decide whether this screening will be useful or important for them.…”