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Introduction
Bioethics is a field of study at the intersection of medical research and ethics, so it represents an interdisciplinary area of knowledge. Comprehending bioethical concerns, such as genetic manipulations anticipated to prevent hereditary diseases in children, requires input from diverse discipline fields. In bioethical investigations, contributions from medical professionals involved in empirical research and service providers can be combined with takeaways/solutions generated by applying philosophical methods of cognition, legal reviews, economic analysis, and many other frameworks. As a bioethical issue, genetic disease prevention via preimplantation genetic diagnosis (PGD) and editing the human genome to replace genes responsible for certain life-affecting disorders also requires the diversity of viewpoints to be solved. Genome editing might benefit couples incapable of producing embryos free of disease-inducing mutations, but PGD for embryo selection remains much less questionable ethically and in terms of effectiveness.
The implementation of the prospective and actually existing methods for reducing the burden of diseases, including those resulting from genetic anomalies, often requires ascertaining supposed interventions’ ethical appropriateness. Analyzing PGD and genetic manipulations holistically should involve systematic assessments of safety/effectiveness-related clinical trial data, solutions’ economic feasibility, and research costs. Ethical arguments revolving around the embryo’s status and the moral permissibility of selective reproduction if it seeks to minimize human suffering as the final outcome are also indispensable.
Preimplantation Diagnosis and Genome Modification to Correct Genetic Anomalies
PGD refers to a set of techniques to assess embryos and prevent couples from having offspring with genetic disorders. Within the frame of assisted fertilization interventions, PGD is applied to check embryos for chromosomal abnormalities and select the best options for implantation. PGD testing has other hypothetical uses, such as selecting the future child’s sex or certain physical features. However, biopsy and embryo testing procedures just for that purpose are discouraged as the risks of damaging embryos significantly outweigh the benefits (Sciorio et al., 2020). Overall, PGD creates opportunities for selective reproduction, making it potentially ethically questionable.
Whether PGD is essentially better compared to any opportunities for anomaly correction via genome modification is an open question. In bioethical literature, selective implantation after PGD is cited as the key alternative to correcting genetic anomalies via modifying the genome (Ranisch, 2020). On the one hand, PGD techniques are often sufficient for preventing aneuploidy (Sciorio et al., 2020). As the PGD Consortium reports, current PGD techniques help prevent several hundred monogenic disorders (Sciorio et al., 2020). Cystic fibrosis, Huntington’s disease, sickle cell disorder, and fragile X syndrome represent the most frequent conditions diagnosed in the preimplantation stage (Sciorio et al., 2020). On the other hand, PGD cannot guarantee pregnancy success; for instance, per systematic review research, PGD use has no significant impact on live birth rates in in-vitro fertilization (Sordia-Hernandez et al., 2021). Overall, PGD still produces positive outcomes in terms of anomaly correction, reducing the proportion of lives that would not be considered worth living and would be fraught with everyday suffering and extra barriers to socialization. Genome editing prior to embryo transfer remains mostly hypothetical, making its safety and effectiveness speculative, which affects ethicality as well.
Modifications available with the help of germline genome editing could hypothetically outperform PGD when it comes to couples with a small chance of producing healthy embryos. It involves spouses with both partners turning out to be heterozygous for autosomal dominant disorders or homozygous for recessive ones (Battisti, 2021). To some degree, genome editing represents the last resort for such families to have genetic offspring, thus supporting their freedom of choice in reproductive matters and eliminating the need for engaging external donors or adoption.
However, genome editing’s effects remain concerning and largely unexplored, which is the key ethical barrier. The existing investigations focusing on the CRISPR-Cas9 editing technology in human embryos suggest the risks of unintended gene mutations in parts other than the target site (Ledford, 2020). It has been demonstrated in trials involving mutations in the POU5F1 and EYS genes (Ledford, 2020). Specifically, changes to the POU5F1 gene caused DNA rearrangements and base deletion in the surrounding region in more than 20% of cases (Ledford, 2020). Alterations to the EYS for blindness prevention caused damage to the entire chromosome in almost 50% of embryos (Ledford, 2020). Realizing the opportunity for anomaly corrections via genome editing is considered heavily ethically ambiguous at the moment. He Jiankui was sent to jail for using CRISPR to alter the CCR5 gene in embryos to eliminate HIV risks, resulting in the birth of the first twins with modified genomes (Ledford, 2020). Proceeding with experimentation in humans in spite of limited knowledge pertaining to such edits’ long-term effects on children, their overall physical development, and their own future offspring creates massive concern.
Overall, supporting PGD’s accessibility and relevant counseling for couples that may have genetic conditions and investing in further research into genome modification seem suitable solutions for genetic anomalies from the humanistic perspective. As opposed to editing embryos’ genomes, genome-affecting gene therapies for children with sickle cell disease represent a promising but still controversial option that could improve life quality (World Health Organization [WHO], 2021). Minorities, such as Black people in non-African ECOSOC member countries, can unite and connect to the WHO (2021) to create federal proposals for their governments and advocate for investment in gene therapy research. In this case, individuals’ race serves as a predisposing factor to sickle cell disease (WHO, 2021). In a similar manner, propositions to keep PGD procedures, which tend to cost over 10,000$ and are insufficiently funded in African states, affordable can be generated (Carzis et al., 2019). Removing barriers to PGD for selective reproduction and proceeding with research to assess gene therapies’ effectiveness would reduce the burden of caring for children with anomalies in at-risk families.
Conclusion
To sum up, when it comes to the bioethical issue surrounding PGD and genome editing, the former represents a less ethically problematic option. PGD demonstrates effectiveness in detecting embryos that should not be considered for transplantation in assisted reproduction. PGD maximizes the chances of preventing lifetime disease, thus reducing child suffering while also removing the financial and emotional burden of caring for children requiring special accommodations. As opposed to embryo assessment for selecting the baby’s sex or certain characteristics having no health impacts, PGD for disease prevention actually seeks to reduce pain, making it aligned with the humanistic viewpoint. In contrast, the known opportunities for anomaly prevention via editing are fraught with knowledge gaps regarding edits’ long-term health effects and the risks of unintended changes to the genome.
Considering the current state of knowledge and technology, maintaining at-risk couples’ access to PGD, including assessing the opportunities for improving such procedures’ affordability, seems a reasonable solution. While genome editing’s safety is yet to be demonstrated, research in this field may need to be emphasized as a chance to maintain each couple’s happy parenthood. The promise of such disease reduction measures may inspire propositions from minorities in ECOSOC to advocate for PGD’s accessibility and investment in research.
References
Battisti, D. (2021). Affecting future individuals: Why and when germline genome editing entails a greater moral obligation towards progeny. Bioethics, 35(5), 487-495. Web.
Carzis, B., Wainstein, T., Gobetz, L., & Krause, A. (2019). Review of 10 years of preimplantation genetic diagnosis in South Africa: Implications for a low-to-middle-income country. Journal of Assisted Reproduction and Genetics, 36(9), 1909-1916. Web.
Ledford, H. (2020). CRISPR gene editing in human embryos wreaks chromosomal mayhem. Nature, 583(7814), 17-18. Web.
Ranisch, R. (2020). Germline genome editing versus preimplantation genetic diagnosis: Is there a case in favour of germline interventions?Bioethics, 34(1), 60-69. Web.
Sciorio, R., Tramontano, L., & Catt, J. (2020). Preimplantation genetic diagnosis (PGD) and genetic testing for aneuploidy (PGT-A): Status and future challenges. Gynecological Endocrinology, 36(1), 6-11. Web.
Sordia-Hernandez, L. H., Martinez, F. A. M., Rodriguez, A. F., Diaz-Gonzale Colmenero, F., Camacho, P. L., Martinez, O. H. V., Guajardo, R. R., & Sordi Piñeyro, M. O. (2021). Impact of screening for aneuploidies in blastocysts on single embryo transfer live birth rates. A systematic review and meta-analysis. Human Reproduction, 36(S1), 385-386. Web.
World Health Organization. (2021). WHO issues new recommendations on human genome editing for the advancement of public health. Web.
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