Editing embryos to prevent genetic diseases: Study sparks ethical debate microbiologystudy

Scientists from a collaboration of Australian research institutions have proposed that editing multiple genetic variants in human embryos could significantly lower the likelihood of developing complex diseases such as coronary artery disease, Alzheimer’s, major depressive disorder, diabetes, and schizophrenia.

Advancements in germline genome editing have accelerated rapidly, highlighted by the controversial birth of genetically edited twins Lulu and Nana in 2018. This event sparked international debates and led to calls for stricter regulations. Subsequently, the birth of Aurea, the first child born through embryo screening using polygenic scores, underscored the potential benefits and ethical complexities of genomic technologies.

Genome-based medical conditions place a significant burden on quality of life and health care systems, contributing to premature mortality. Addressing these challenges through genetic interventions offers a promising avenue to alleviate both human suffering and economic strain.

In the study, “Heritable polygenic editing: the next frontier in genomic medicine?,” published in Nature, researchers employed mathematical modeling and liability threshold frameworks to assess the impact of editing multiple DNA variants identified through genome-wide association studies.

By analyzing allele frequencies and effect sizes at various genomic loci, the study projected potential reductions in disease prevalence among individuals with edited genomes. Additionally, the team examined the influence of editing variants related to quantitative traits such as blood pressure, cholesterol levels, and glucose metabolism.

Findings indicate that altering as few as 10 genetic loci could lead to substantial decreases in the lifetime prevalence of targeted diseases among those with edited genomes. For instance, modifying 10 variants associated with Alzheimer’s disease could reduce its prevalence from 5% to below 0.6% in edited individuals. Similar significant reductions were observed for schizophrenia, type 2 diabetes, and coronary artery disease.

While the study is not a proposal of research that is expected to occur anytime soon, it might be time to start the conversation.

A “News and Views” article published alongside the Nature study, “Human embryo editing against disease is unsafe and unproven—despite rosy predictions,” raises significant concerns about the study’s underlying assumptions and the practical implementation of such technologies.

Key criticisms of the article include the current inaccuracy of gene-editing technologies, the challenges in accurately identifying causal gene variants, and the possibility of pleiotropic effects (also mentioned in the study) where a single edited gene could influence other traits, potentially increasing the risk of other diseases.

The opinion piece also highlights the range of ethical or social conflicts and attributes national bans of the technique more out of response to these concerns than concerns about technical safety and efficacy.

Issues they mentioned as possibly leading to bans on the technique; unnaturalness, stigmatization, discrimination, inequality, reproductive autonomy, reproductive norms and values, parent-child relationships, and disability rights—are all issues people with inherited diseases must face without having such treatments.

It may be easy to dismiss the technology without a family history of devastating genetic disease. For those who do, the promise of lifting the burden will likely outweigh societal opinions.

Disease-proofing future generations from heritable traits, as described in the study, may not be ready for some time. As gene editing technologies continue to evolve, the study emphasizes the necessity for proactive international cooperation and ethical deliberation to navigate the profound implications.

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