Preconception tests are commercially available that detect mutations, associated with over 150 rare single gene disorders, in a single assay for less than $1000.66 Although evidence suggests that the mutation detection accuracy is high, interpreting the consequences of harboring a mutation can be challenging. In the prenatal period, technological advances have facilitated non-invasive aneuploidy testing using cell-free fetal nucleic acid present in maternal blood.67 More sophisticated mutation detection approaches applied to cell-free nucleic acids will likely provide non-invasive diagnosis of a broad array of heritable conditions. For couples at increased risk of having an affected child, costly assisted reproductive technologies including pre-implantation genetic diagnosis followed by embryo selection and implantation are options for increasing the likelihood of a healthy pregnancy outcome.68 As these technologies are perfected, and costs come down, the need to address the societal consequences of being able to influence human inheritance will only increase.
