Where'd you get those genes? The answer may shock you

Recent developments in the field of biotechnology have shown that mutations can be edited out of the human genome. What are the future implications of this research and will it be used to the benefit or detriment of society?

Last month, UK scientists performed gene-editing experiments for the first time in order to gain a greater understanding of how embryos develop, and it is likely researchers in other countries will soon follow suit.

UK law permits experiments to be performed on embryos that are no more than 14 days old and prohibits their implantation into a human host.

To provide a brief primer, the human genome consists of roughly 30,000 genes, spread across 23 pairs of chromosomes, containing the blueprints for our construction. Each person’s genetic code is unique, accounting for the myriad physical characteristics seen across the human species. Gene mutations can be inherited from a parent or are acquired spontaneously during the frequently occurring process of cell division. Mutation inducing agents, such as radiation, certain chemicals or naturally occurring toxins also cause alterations to the genetic code which may, ultimately, lead to cancer.

Each person’s DNA is estimated to contain around 400 flaws, though these mutations rarely cause us any problems. Some, deemed ‘silent mutations,’ do not bring about any noticeable changes, whereas others give rise to relatively common physical characteristics, such as red hair and blue eyes, which are considered part of natural human variation. However, some gene mutations can result in individuals being born with serious lifelong conditions that diminish their quality of life and/or lead to an early death. Examples of the estimated 10,000 diseases caused by a mutation within a single gene include cystic fibrosis, Huntington’s disease, and hemophilia.

The existence, let alone the inner workings, of the human genome long remained a mystery, with science powerless to rectify genetic mutations. Yet recent developments in the field of biotechnology have shown it is possible to edit out errors from the human genome.

A paper published two months ago in the renowned scientific journal Nature explains how scientists were able to remove a mutated paternal copy of the MYBPC3 gene, responsible for causing hypertrophic cardiomyopathy, from embryos in a lab and replace the faulty gene with a heathy maternal copy (Hypertrophic cardiomyopathy can cause heart failure and sudden cardiac death in young adults). The lab-grown embryos were destroyed after several days, as per protocol.

Although these embryo experiments were merely the first of their kind, they promptly gave birth to both optimism and concern. The possibility of one day being able to correct genetic faults at a stage where a future human is merely a clump of cells in order to prevent a lifelong and debilitating illness sounds miraculous. The additional benefits of a healthier population, reductions in medical costs and increased economic productivity are appreciable. However, the darker implications of this technology cannot be ignored.

The American Society of Human Genetics (ASHG) has expressed favorable sentiments towards gene editing research that is limited to human and animal cells in a lab but is against any experiments which lead to pregnancy or have any clinical applications. Kelly Ormond, ASHG member and genetics professor at Stanford University School of Medicine, believes that public funding could promote both openness and oversight as well as prevent such research from spreading to other countries with less stringent regulations. She comments: “I think the main issue is that not every country in the world has the same sorts of regulations or the same ability to enforce regulations.”

The respected UK think-tank, the Nuffield Council on Bioethics, published a report last year exploring the ethical issues associated with genome editing. They acknowledged the altruistic applications this science could have in future, including not only fixing embryonic gene mutations but also modifying plant and animal genes to increase food yields, preventing transmission of insect borne diseases by interfering with their DNA and re-introducing extinct species. However, they acknowledge that introducing new or altered genetic material into the ecosystem could have unpredictable and irreversible effects.

The report also highlighted that “There are concerns that the use of genome editing may facilitate the spread of ‘consumer’ or ‘liberal’ eugenics, driven primarily by the choices of parents, which could, in turn, exacerbate divisions or inequalities in society.” Perhaps genetic diseases, currently affecting individuals across all strata of society, may in the future become akin to today’s infectious diseases which predominantly affect people living in lower income countries.

The military applications of gene-altering technology must also be considered. Likewise, in the longer term, such knowledge could be utilized by non-state actors to create new strains of bacteria and virus immune to known antibiotics and vaccines, or bio-weapons that target individuals possessing a certain genetic makeup.

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Any new invention or technology eventually proliferates, increasing the risk that it may be acquired by unstable or corrupt nations, perhaps eventually falling into the hands of individuals with dubious motives. Strict security measures, reams of legislation, and international agreements cannot possibly close every loophole or prevent every eventuality. Conversely, one could argue that ensuring gene editing technology, and its associated benefits, remains under the control of a small number of wealthy nations is itself unethical in the longer term.

The aforementioned science it at a very early stage of development and it may take years or decades for its benevolent or malevolent effects to be realized. But would a few decades be long enough for the human race to sufficiently mature and reach a level where it would likely use, rather than abuse, such formidable potential?

At a time when mistrust between nations seems ubiquitous, powerful weapons somehow slip into the hands of terrorist groups in Syria, and attempts at ethnic cleansing take place from eastern Ukraine to Burma, it’s easy to feel despair. However, history shows that in turbulent times humanity can show either its best or its worst side; the future is far from predetermined.