If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that ‘actionable’ genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England). They argue that the opportunity should be used to routinely and systematically look for secondary findings—so-called opportunistic screening. From a normative perspective, the distinguishing characteristic of screening is not so much its context (whether public health or health care), but the lack of an indication for having this specific test or investigation in those to whom screening is offered. Screening entails a more precarious benefits-to-risks balance. The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm. Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.

Polygenic risk score analyses on embryos (PGT-P) are being marketed by some private testing companies to parents using in vitro fertilisation as being useful in selecting the embryos that carry the least risk of disease in later life. It appears that at least one child has been born after such a procedure. But the utility of a PRS in this respect is severely limited, and to date, no clinical research has been performed to assess its diagnostic effectiveness in embryos. Patients need to be properly informed on the limitations of this use of PRSs, and a societal debate, focused on what would be considered acceptable with regard to the selection of individual traits, should take place before any further implementation of the technique in this population.

Cascade testing (CT) is an effective instrument for identifying an index patient’s relatives at high risk of a heritable condition enabling informed decision-making on preventive interventions and reproductive choice. However, CT remains underutilised and faces barriers. Discussions are ongoing on how to optimise informing family members and testing uptake in a responsible manner. The European Society of Human Genetics (ESHG) contributes to this debate and provides recommendations based on an ethical analysis of when CT is justified, or may be less compelling, considering proportionality and the judicious use of finite resources. ESHG underscores the strong consensus regarding the ‘moral architecture’ of CT in cases of a high risk of serious, avoidable harm. In such cases, a more active approach towards CT is suggested, including a more directive approach in counselling, more active support for the proband, direct contacting, and balancing confidentiality when this is necessary to avoid a high risk of serious harm, taking account of national regulations and jurisdictions. In contrast, more caution is advised in more complex cases where the balance of benefits and harms of CT is less clear, such as when penetrance is low, and actionability or medical treatment is limited. This more cautious approach does not call for directivity, direct contact or the relaxing of medical confidentiality. The focus, then, shifts to cascade counselling, rather than cascade testing. In some cases, CT may not be proportional or appropriate given the balance between benefits and harms, also in view of available resources.

In many countries, some form of genetic screening is offered to all or part of the population, either in the form of well-organized screening programs or in a less formalized way. Screening can be offered at different phases of life, such as preconception, prenatal, neonatal and later in life. Screening should only be offered if the advantages outweigh the disadvantages. Technical innovations in testing and treatment are driving changes in the field of prenatal and neonatal screening, where many jurisdictions have organized population-based screening programs. As a result, a greater number and wider range of conditions are being added to the programs, which can benefit couples’ reproductive autonomy (preconception and prenatal screening) and improve early diagnosis to prevent irreversible health damage in children (neonatal screening) and in adults (cancer and cascade screening). While many developments in screening are technology-driven, citizens may also express a demand for innovation in screening, as was the case with non-invasive prenatal testing. Relatively new emerging issues for genetic screening, especially if testing is performed using DNA sequencing, relate to organization, data storage and interpretation, benefit–harm ratio and distributive justice, information provision and follow-up, all connected to acceptability in current healthcare systems.

Midwives’ position in maternal and newborn care (MNC) in the Netherlands is unique: unlike many other countries, they have retained the authority over risk assessment and referral. We studied why and how midwives formally gained their position as gatekeepers, a role formally granted in 1987 by the Study Group for the Revision of the Kloosterman List (SGKL), a group of representatives from all professions and organisations involved in Dutch MNC. We analysed the minutes of the SGKL’s meetings and conducted interviews with eight key-informants who were involved in the SGKL’s decision process. We used theories of professional boundary work and cultural theories of risk to analyse the negotiations regarding the authority over risk assessment and referral in MNC that occurred between the representatives of midwives, general practitioners, and obstetricians in the SGKL. Our study offers new insights into professional boundary demarcation and the contest for control of risk management that occur at the political level of MNC. We show that beliefs regarding risks associated with childbirth and concern with the protection of professional interests can differ not only between but also within professions that seek to police and extend their boundaries. Negotiations are shaped by a dynamic interaction between these beliefs and interests, creating the possibility for otherwise unexpected transprofessional coalitions and redefining boundaries in unexpected ways. Our findings offer the possibility to view disputes in MNC as occurring between beliefs and interests, instead of between professional groups. These insights can reframe policy discussions in MNC and point to the need for further analysis of the boundary work that occurs in political and regulatory arenas.