This chapter on the ethics of human reproductive genetics focuses on current debates in three corners of the field of medically assisted reproduction (MAR). First, we discuss preimplantation genetic testing (PGT). Until recently, ethical debates concentrated on PGT “on indication,” formerly termed preimplantation genetic diagnosis (PGD), namely testing of embryos on behalf of couples mostly at high risk of transmitting a specific genetic disorder. As important, however, is the ethics of (the offer of) routine testing of in vitro fertilization (IVF) embryos, formerly termed preimplantation genetic screening (PGS). Although it is still unclear what the precise value of such screening may turn out be, the scenario of next generation sequencing (NGS)-based “comprehensive PGS” raises a number of challenging ethical issues. Secondly, we discuss carrier screening. In MAR, until recently this type of screening targeted gamete donors. Presently, however, a growing number of clinics have started offering carrier screening to applicants of MAR as well. As discussed in Chapter 10, new NGS technologies are expected to make broad-scope testing for many genetic conditions feasible and affordable. Accordingly, what should we test gamete donors and applicants of MAR for and why? Finally, we add a brief ethical reflection on what may become a (or the) real revolution in human reproduction: germline genome editing.

In this chapter, we will discuss the ethics of consent for fetal therapy. The latter term refers to a very broad field, ranging from open surgery to pharmacotherapy, from experimental procedures to accepted treatment, and from interventions aimed at saving fetuses from in utero or perinatal death to treatments with a rationale of improving long-term health outcomes. Because the fetus can only be treated via the body of the pregnant woman, fetal therapy is always a form of ‘maternal-fetal medicine’ and cannot be performed without her informed consent (or that of her representative). However, what makes informed consent for fetal therapy special is that, unlike in other medical contexts, the consenting (or non-consenting) person not only decides for herself, but also for the fetus who may or may not survive and/or for the future child who may or may not benefit. As a consequence, consent for fetal therapy is inevitably asked and given in the context of ideas about the responsibility of the pregnant woman as an expectant mother, a responsibility that, rightly or wrongly, is either assumed by her from within or ascribed to her from without.

The preceding chapter described how developments in the knowledge and potencies of stem cells are now holding out the promise of transplantation replacement therapies to restore organ functions that have been damaged or diseased, for example in Parkinson's disease, various types of heart disease and diabetes. Since these developments are currently drawing significant attention not only from biologists but also from the media, ethicists, governments, politicians, and indeed the general public, this chapter will explore the ethical issues causing concern. For further explanation of concepts and terminology, the reader is referred back to the previous chapter.

Much of the current ethical and societal debate is about spare embryos ‘left over’ from in vitro fertilisation (IVF) procedures, and the even more revolutionary alternative of embryos created specifically for the purpose by transfer of a cell nucleus from the patient's mature tissue (for example the skin) to a donor egg from which the nucleus has been removed. Cells from the latter would be ‘autologous’ (meaning: from the same organism) with the patient, holding out the promise of eliminating or at least substantially reducing the problem of graft rejection which normally bedevils transplantation surgery. This would have important benefits, for example for the sensitive human brain in the treatment of patients suffering from neurological or neurodegenerative disorders and handicaps, by improving on its natural advantage of suffering less violent immune reactions than other organs.