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Designer babies

Designer babies

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The utility prospects based on access to the entire human genome sequence are just tantalizing. Of particular interest, and continuously growing demonstration, is its medical application. Indeed, it is a great time to be in the field of human genomics!

But sometimes, it would appear, not so much to the general public. Too often when I introduce to people what I do and what my interests are, I am met with a reaction of fear that the net result of such work will be the modification of offspring to a desired specification, the so-called “designer babies”. I find it somewhat concerning that this is the type of thinking that people can relapse to on their first encounter with the overall concept of human genome sequencing. On the other hand, one has to respect the notion of fear displayed by the public regarding the concept of manipulation of human genomes for satisfaction of someone's aesthetic desires: no doubt an ethically dubious notion. It is one thing to consider an alteration of the genome for medical purposes, such as the removal of a mutation that leads to a debilitating disease, as opposed to tinkering with a genome for non-health related reasons - for example, to achieve enhanced performance or alter the appearance of a baby.

But can this be done? Will this be done? Why are there such fears displayed by the public who are not familiar with the topic?

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So let's first look at the topic of design. When it comes to understanding the function of the genome, this knowledge is continuously increasing as more and more variations in the genetic code are being linked to specific human traits. The more accurate the measurements of human traits can become, and the more humans are assessed for their various phenotypes, as well as their genomes, seemingly the more human appearance will be directly linked to their genome. In some ways this makes sense, considering that the genome is the blueprint of all the information needed for the function of a given cell harbouring it, including on an individual basis as well as in a whole organ or even whole organism basis.

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Given enough accumulated information, such knowledge could be used for predictive purposes. This is indeed the premise used behind medical genomics in order to help identify the causes of disease development, and translate it to disease risk in any given individual based on their DNA sequence.

And it appears that the capacity of such predictive algorithms based on genome sequence are becoming very powerful, including forays into how a person might look. One such company, Human Longevity of California, has correlated genetic information with facial morphological features to be able to determine what a person might look like. The founder of the company, Craig Venter, was quoted last year in Wired magazine of what can be achieved: "We could take foetal cells from a mother's bloodstream, sequence the genome and give her a picture of what her future child will look like at 18." True, the study did receive some heat when it was published, but you cannot deny that is some powerful stuff!

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Of course, that does not imply that this is the application and purpose behind the company's motives. Once again, there are a myriad of positive purposes to such technology; the first that comes to mind would be in forensics. But the quote illustrates the scope of future possibilities, and can be learned in some fascinating detail from one of this year’s TED talks. As more data is generated, the predictive power of such programs will become increasingly sophisticated.

But there is always a “but”. The above notion would work perfectly in a genetically deterministic world, but not everything is prescribed in the genes, even if that is at times mistakenly portrayed to the public. There is a limit to such an approach, and it is the same limit that applies to medical genomics: the influence of environmental factors. While some phenotypic factors are static, for example eye colour, the outcome of many phenotypes will depend on the environment influencing the expression of genes and that can drastically impact the final appearance. Such is the case with the so-called complex diseases, like cardiac diseases, where the outcome will vary based on a person’s diet, exercise habits, exposure to stress, medication being taken, age, gender, and that is just to name a few. I think you get the point. And the same environmental influence should have dramatic effects in the appearance of an individual.

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Now let's explore the concept whether technology even exists to execute the design. Here the answer, at least in theory, is yes. In the last few years, the whole world has been abuzz with the discovery of genome editing tools that allow targeted sequence alteration. And for a good reason, as obviously the medical implications are great. But the system, termed CRISPR/Cas9 (derived from the bacterial self defence system), despite being continuously enhanced and perfected, is still far from being precise to perform any genomic editing at will. It simply lacks the accuracy and robustness, with only a small portion of the total genomic material actually being edited, and some editing occurring outside of the designated target.

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As you can see, there is still much improvement to be done, but powerful demonstrations of the system’s utility are published all the time. But these applications are for the treatment of conditions past their onset, and not prior to their development. Because there is a concerted effort of the worldwide scientific community to perfect this system, I don't doubt that eventually this will be achieved, allowing for precise clinical use, perhaps even for conditions prior to their development. In fact, the first case of human genome editing using CRISPR/Cas9 technology to help stem the progress of a disease just took place in an individual afflicted with Hunter syndrome. But we are talking about a highly experimental procedure at the moment, performed in an adult.

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But here is another “but”. The reality is that the complexity of genomic function is nowhere near actually being unravelled. It is nowhere near even being that far past the starting point. This is why it is so exciting to be in genome sequencing, because there is still so much to be discovered with this ground-breaking approach to studying human biology. And the complexity is staggering! That same Wired article mentioned that by the time Human Longevity amasses 100 000 genomes, it is expected that 500 million variants will be known. And in the current accumulated knowledge of 170 million, half of them are totally unique, seen only once in a given individual. Deciphering the meaning of so much variation in the human genome in the context of complex genetic pathways will not be an easy task. On top of that, many genes play multiple roles in cell function. Targeting one gene in order to fix a disease might give birth to completely unanticipated problems. This in fact was the problem with the first attempts of genome editing in the early 2000s, where the desire to treat a genetic condition with a viral therapy resulted in cancer development.

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At the end of 2015, the Organizing Committee for the International Summit on Human Gene Editing released a statement clearly defining the position of germline genome (DNA used in reproduction) editing as currently unattainable due to “the difficulty of predicting harmful effects” to an individual and society. While further valuable research was encouraged, germline genome editing is viewed as both dangerous and irresponsible. So needless to say, for now, the idea of editing genomes for desired traits is just a fantasy, and an unnecessary fear of a technology that is already transforming medicine.

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And finally, will designer babies ever be made if it were actually possible? The answer to this question will be provided by the collective acceptance of what is considered ethical or not. Obviously such an approach would currently be considered far outside the breach of ethics. Just consider the public outcry over a misunderstanding behind the closed doors of a Harvard meeting of scientists to discuss the synthesis of a human genome. But humanity as a whole has repeatedly shown that it is willing to break any standard of ethics, so I for one would not be surprised if somewhere someday the concept of designing babies would become standard. Whether this happens or not will depend on the collective vigilance of what we accept as a breach of morality. It is a serious enough topic that genome editing has been recently added by the US national intelligence to a list of potential weapons of mass destruction that could threaten the security of US. Yes, you read that right.

In one of the polls conducted, the American public also appears to have a dominant point of view, and that is against the use of genome editing in unborn babies, whether for personal appearance (83%) or medical reasons (65%).

I still consider these only musings based on the erroneous concepts I sometimes encounter in the public, perhaps espoused by such fear mongering Hollywood concepts as Gattaca. The reality is that we are nowhere near such biological understanding of genomics to know how best to even modify a genome for medical benefits, yet alone for such abstract notions as designing human beings. But someday, someone will probably attempt to create their Frankenstein.

Instead, consider DNA testing for what it should be used for, which is to obtain information of medical significance. At Merogenomics we can link you with a service provider and help you and your doctor understand the genome sequencing process. It will not involve redesigning your genome. But it might redesign your lifestyle.


This article has been produced by Merogenomics Inc. and edited by Kerri Bryant. Reproduction and reuse of any portion of this content requires Merogenomics Inc. permission and source acknowledgment. It is your responsibility to obtain additional permissions from the third party owners that might be cited by Merogenomics Inc. Merogenomics Inc. disclaims any responsibility for any use you make of content owned by third parties without their permission.


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