When targeted to couples with a known or suspected increased risk of having a child with selleck a AZD1390 genetic disorder, genetic preconception care fits within the tradition of individual genetic testing and counseling. It provides counselees with a wider range of reproductive options than they would otherwise have had (Solomon et al. 2008). On the basis of their genetic
risk-profile and in the light of their personal weighing of relevant considerations, they may decide to 1) have a child while accepting the risk, 2) reproduce with the use of donor gametes, 3) refrain from having children genetically related to at least one of the partners, 4) establish a pregnancy and then use prenatal diagnosis (PD) with the possibility of having a selective abortion, or 5) conceive through in vitro fertilization (IVF) and use pre-implantation genetic diagnosis (PGD) with the hope of being able to select a non-affected embryo. When however offered to a whole population of reproductive age, genetic preconception care seeks primarily to identify couples or individuals with an increased risk of transmitting a genetic disorder. The basic format is taking an extensive family history as part of general preconception LXH254 chemical structure consultation (Health Council
of the Netherlands 2007). In most cases, this will not reveal a high risk of transmitting a serious autosomal recessive disease, such as cystic fibrosis (CF) or hemoglobinopathies. Indeed, due to the recessive inheritance pattern, affected children tend to be born to healthy and unsuspecting parents, even if the diseases in question may constitute a serious reproductive health problem
in specific populations or communities where they are more frequent. The systematic and uninvited offer of testing for carrier status of such diseases may therefore become an important instrument of genetic preconception care (Solomon et al. 2008). Experience with this approach also includes X-linked recessive diseases, notably Fragile X syndrome (FXS) (Musci and Moyer 2010). In the two main sections of this paper we review the ethics both of individual preconception genetic counseling and of systematically offering preconception carrier screening (PCS) to couples or individuals of reproductive age, either targeting specific diseases or using expanded (potentially next even genome wide) test-panels. Ethics of individual preconception genetic counseling Ethical issues of preconception counseling of individual couples with a known or suspected increased genetic risk include the objectives of genetic counseling, the ethics of abortion and embryo-selection, and issues arising with regard to the professional–client relationship. Objectives of individual preconception genetic counseling There are two different views of the aim of preconception care for individual couples with increased genetic risk: prevention and autonomy (Buchanan et al. 2000; De Wert 1999).