Yaretzi Huff, Deputy Director for Safety, Division of Urology, Obstetrics and Gynecology, University of Maryland Medical System
The availability of new genetic technologies is all set to transform the reproductive decision-making of high-risk couples.
Couples who have an increased risk of having offspring with a genetic disorder who want to avoid having an affected child have reproductive options like prenatal diagnosis (PND) or preimplantation genetic testing (PGT). In the future, germline gene editing (GGE), non-invasive prenatal diagnosis (NIPD), and somatic gene editing (SGE) might become available. Here is how the availability of new genetic technologies, like NIPD, GGE, SGE, would transform high-risk couples' reproductive decision-making.
In the last few years, genetic technologies have developed quickly. One new reproductive genetic technology is the non-invasive prenatal diagnosis (NIPD) utilizing cell-free placental DNA. NIPD nowadays is increasingly available for the identification of monogenic disorders. Challenges in performing the procedure and the costs involved limiting its application. Compared to PND, NIPD can be run earlier in pregnancy, at around eight weeks gestational age, and has no procedure-related miscarriage challenge. However, if the NIPD result shows that the fetus is affected, the couple is nevertheless confronted with a decision regarding continuing the pregnancy.
The not yet available, possible future reproductive technology is germline gene editing (GGE). Targeted DNA transformations could be performed in both immature oocytes and sperm or in primary stage embryos due to this repairing the known disease-causing variant. However, some people argue that PGT is sufficient to fulfill the wish to have an unaffected child. Due to experiments without regulatory oversight, the call for a broad societal debate on the socio-ethical and legal implications of GGE has strengthened. Besides GGE, developments in somatic gene editing (SGE) as a therapy for patients also seems promising. The future availability of SGE as a treatment option and other enhancements in therapy might change current reproductive technologies' requirements.
Though several of the couples' considerations regarding these technologies remain the same, with the increasing number of reproductive options, genetic counselling will become more complex as these new advanvements will most likely complicate reproductive decision-making. Users' perspectives should be addressed, and they must be involved in shared governance and navigating further science and policy-making.