A key challenge of preconception healthcare is identifying how it can best be delivered at a population level. To review current strategies of preconception healthcare, explore methods of preconception healthcare delivery, and develop public health models which reflect different preconception healthcare pathways. Preconception care strategies, programmes and evaluations were identified through a review of Medline and Embase databases. Search terms included: preconception, pre-pregnancy, intervention, primary care, healthcare, model, delivery, program, prevention, trial, effectiveness, congenital disorders OR abnormalities, evaluation, assessment, impact. Inclusion criteria for review articles were: (1) English, (2) human subjects, (3) women of childbearing age, (4) 1980–current data, (5) all countries, (6) both high risk and universal approaches, (7) guidelines or recommendations, (8) opinion articles, (9) experimental studies. Exclusion criteria were: (1) non-human subjects, (2) non-English, (3) outside of the specified timeframe, (4) articles on male healthcare. The results of the literature review were synthesised into public health models of care: (1) primary care; (2) hospital-based and inter-conception care; (3) specific preconception care clinics; and, (4) community outreach. Fifteen evaluations of preconception care were identified. Community programmes demonstrated a significant impact on substance use, folic acid supplementation, diabetes optimization, and hyperphenylalaninemia. An ideal preconception visits entail risk screening, education, and intervention if indicated. Subsequently, four public health models were developed synthesizing preconception care delivery at a population level. Heterogeneity of risk factors, health systems and strategies of care reflect the lack of consensus about the best way to deliver preconception care. The proposed models aim to reflect differing aspects of preconception healthcare delivery.

Congenital disorders are a leading cause of global burden of disease; the birth prevalence remains constant at 6%. Initiating preconception care before pregnancy may be an effective strategy to reduce congenital disorders and improve the health of reproductive-age women. Our objectives are: (1) To identify components of preconception interventions, (2) to assess the effectiveness of preconception interventions in reducing the burden of congenital disorders, and (3) to prioritize these interventions. Medline and Science Direct search terms included: preconception, pre-pregnancy, childbearing, reproduction, care, intervention, primary care, healthcare, model, program, prevention, trial, efficacy, effectiveness, congenital disorders OR abnormalities. Inclusion criteria were: (1) English, (2) human subjects, (3) women of childbearing age, (4) 1980-current data, (5) all countries, (6) experimental studies, (7) systematic reviews or meta-analysis, (8) program reports/evaluations. Data was collected and abstracted by two independent reviewers. To prioritize preconception interventions likely to have the largest impact at a population level, a ranked scoring system was created incorporating the following: (1) quality of evidence supporting the intervention, (2) effect size of the intervention, and (3) global burden of the specific congenital disease. Preconception interventions include risk screening, education, motivational counseling, disease optimization and specialist referral. The most effective interventions, based on the strength of evidence, size of impact of intervention, and disease burden are: folic acid fortification/supplementation, diabetic control, smoking and alcohol interventions, HIV management, thrombophillia screening, obesity prevention and epilepsy management. Although multiple conditions require preconception attention, only nine interventions have evidence to support their effect on congenital disorders through a randomised control trial, systematic review or meta-analysis. There is a need for more high-level research in evaluating certain preconception interventions. These findings have significant implications on planning and implementation of preconception care.

The introduction of new sequencing technologies wholegenome sequencing (WGS) and whole-exome sequencing (WES) that are much less finely targeted than previous genetic tests has resulted in ethical debate about what should be done with clinically significant findings that may arise during the sequencing process. In this piece we argue that, in addition to whether the finding has been intentionally sought or arises incidentally, the ethical issues concerning what should be done with WES and WGS findings are also influenced by whether sequencing occurs in a clinical or research setting. We argue that decisions about the disclosure of WGS and WES findings generated in the clinical context are much less ethically contentious than decision making about the feedback of research results. We conclude by calling for greater transparency about the purpose of sample collection, more explicit protocols for transitioning between research and clinical contexts and patients and research participants to be warned of the potential for incidental findings to be generated, their potential significance and the actions that might be taken as a result.

Inherited cardiovascular conditions (ICCs) are a group of monogenic disorders caused by mutations in the components of the electrical and contractile system of the heart or its vasculature. ICCs include arrhythmias, cardiomyopathies, inherited arteriopathies such as Marfan syndrome, muscular dystrophies, and familial hypercholesterolaemia. Epidemiological data on ICCs are sparse but a survey of the available literature suggests that there are approximately 340,000 prevalent cases of these conditions in the UK (population 61 million). As a result of dramatic advances in understanding of the molecular pathology of ICCs, more than 50 ICCs have been recognised, and diagnostic genetic tests are increasingly available. As part of a needs assessment and review of provision of ICC services, a survey of all UK ICC services was undertaken focusing on both quantitative and qualitative aspects. Service provision was found to be highly inequitable, with typically a 10–20-fold variation in referral and genetic testing rates between different UK regions. Service levels per million population are much higher in London than in all but one of the regions. The review concluded that capacity of services is inadequate to meet current or future demand and many services lack the critical mass to provide the full range of services. Recommendations are made for the development of services appropriate for the future. Services should be led by cardiology but have close links with clinical genetics services, which should provide support with specialist genetics advice and cascade testing. Finally, the international relevance of this review is considered.