With the increased international focus on personalized health care and preventive medicine, next-generation sequencing (NGS) has substantially expanded the options for carrier screening of serious, recessively inherited diseases. NGS screening tests not only offer reproductive options not previously available to couples, but they may also ultimately reduce the number of children born with devastating disorders. To date, preconception carrier screening (PCS) has largely targeted single diseases such as cystic fibrosis, but NGS allows the testing of many genes or diseases simultaneously. We have developed an expanded NGS PCS test for couples; simultaneously it covers 50 very serious, early-onset, autosomal recessive diseases that are untreatable. This is the first, noncommercial, population-based, expanded PCS test to be offered prospectively to couples in a health-care setting in Europe. So far, little is known about how potential users view such a PCS test. We therefore performed an online survey in 2014 among 500 people from the target population in the Netherlands. We enquired about their intention to take an expanded PCS test if one was offered, and through which provider they would like to see it offered. One-third of the respondents said they would take such a test were it to be offered. The majority (44%) preferred the test to be offered via their general practitioner (GP) and 58% would be willing to pay for the test, with a median cost of €75. Our next step is to perform an implementation study in which this PCS test will be provided via selected GPs in the Northern Netherlands.

Purpose: With rapid advances in genetic technologies, new genetic information becomes available much faster today than just a few years ago. This has raised questions about whether clinicians have a duty to recontact eligible patients when new genetic information becomes available and, if such duties exist, how they might be implemented in practice. Methods:We report the results of a systematic literature search on the ethical, legal, social (including psychological), and practical issues involved in recontacting former patients who received genetic services. We identified 1,428 articles, of which 61 are covered in this review. results:The empirical evidence available indicates that most but not all patients value being recontacted. A minority of (older) articles conclude that recontacting should be a legal duty. Most authors consider recontacting to be ethically desirable but practically unfeasible. Various solutions to overcome these practical barriers have been proposed, involving efforts of laboratories, clinicians, and patients.conclusion: To advance the discussion on implementing recontacting in clinical genetics, we suggest focusing on the question of in what situations recontacting might be regarded as good standard of care. To this end, reaching a professional consensus, obtaining more extensive empirical evidence, and developing professional guidelines are important.Genet Med advance online publication 11 December 2014

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.