Sunday, June 22, 2014

CAJ #11: Arguments against PGD and Co.

Hey Everyone,

As indicated from my previous posts, there isn’t a great deal of PGD supporters out there. Frankly, all technologies and techniques associated with reproductive biology and genetic engineering raise a lot of ethical concerns. But why are so many people against the notion of finding out ways to eliminate even more diseases to have a perfectly healthy child? Let’s look at some of the arguments of those opponents to try to see why they are so reluctant to welcome this futuristic trend.

Playing God. You will almost always come across the argument which says that interfering with the genetic code is against nature and that we are basically assuming God’s role. Humans have no right to change another human being’s DNA, and especially not for enhancement purposes.

Eugenics. According to the Oxford Dictionary, eugenics is “the science of improving a population by controlled breeding to increase the occurrence of desirable heritable characteristics.” PGD is used to detect defects and then discard the embryos that include undesirable traits. This could lead to creating a homogenized society, or a master race, similar to the idea Adolf Hitler had in mind. Variation, however, allows for innovation. Opponents argue that there are some amazing and inspiring people who happen to be disabled but contribute a lot to science and other fields. For instance, Stephen Hawking who is paralyzed due to amyotrophic lateral sclerosis (ALS) or Albert Einstein who had learning disabilities. These disabilities didn’t stop neither from becoming one of the successful physicists in the world and forming the theory of relativity, respectively. PGD and other genetic engineering technologies are therefore seen as a discrimination against the disabled community.

Discrimination against the poor. Not only is PGD extremely time consuming, but it is also a highly expensive procedure. It is therefore only accessible to wealthy couples. As a consequence, only the poor will have to suffer.

It is unsafe. The viral vectors that are used to bring the DNA into the cell may cause lethal immune responses or even tumors. While this argument may be valid today, it is probably a technical problem that will eventually be circumvented. Another safety argument is that when transgenes become inserted into the genome, they may disrupt functional genes and cause mutations. This has been seen during trials in mice. There is still no 100 % guarantee that this technology works on everyone equally. There is also a chance of misdiagnosis, about a 20 % chance of damaging the embryo during the biopsy process, and other yet unknown complications.

Pressure. Some women's health advocates worry that genetic engineering could create new pressures for the mother. Genetic enhancement could be subtly or coercively suggested by a partner, but also by third party groups with financial incentives such as insurance companies, a doctor, a social circle, current fashions, biotech marketers or mass media advertisers. It is not implausible that women could lose the ability to make genetic decisions about their own baby if the medical establishment or national government decided to regulate genetic engineering in some way.

Policy. What is a “medical necessity”? What is considered a “serious genetic disorder”? That’s when medical opinions vary and so a policy cannot be made to guarantee an equal distribution of PGD.

Technologies that involve changing DNA will always be full of controversy. Do you feel that you now understand both sides to it? Honestly, I do.

Wednesday, June 11, 2014

CAJ #10: Modified Sperm Technology

Hey Everyone,

I’ve just read this new article on yet another technique that could lead to, according to the UK’s leading fertility doctor, Lord Winston, THE breakthrough in genetics medicine! I don’t know how you guys see this, but it seems to me that scientists and doctors never cease to search for new developments to scare/ surprise us. This new method involves inserting new genetic material into sperm to replace defective genes. With this new technique, developed by Dr. Winston and his team, it could be possible to create healthy babies without manipulating the embryos at all. Artificial fertilization would be needed. This might lead to making reproductive technologies seem less frightening since embryos could stay the way they are. But where can these healthy genes be taken from? Dr. Winston and his team are currently working on creating modified pigs whose organs could be transferred into humans without causing any medical problems. In 2012, the Federation of American Societies for Experimental Biology already published a research report showing that introducing new genetic material via a viral vector into the sperm of mice leads to the presence and activity of those “designer sperm” genes in the resulting embryos. Who comes up with these discoveries, right? Well, this guy here:



This is what he had to say about this futuristic technique:

“Artificial insemination is an easy way to get something pregnant. You just modify the sperm beforehand. The idea we had was not using embryos at all. We’ve always been interested in trying to make transplant organs from the pig which would not be recognised by the human immune system. It’s a step forward in genetic research which is really interesting because if you can modify large animals and you don’t need to use IVF then obviously the biggest large animals, clearly, is ourselves."

He does also acknowledge the risk of working towards an era of eugenics, but he states that every technology has its advantages and downsides and that people should not misuse it.


“You could easily see how this kind of thing could be used in North Korea for example. I don’t think it’s very likely it will be used in the UK in a mischievous way but I’ve no doubt that given the burgeoning market, given the desperation of people who want to enhance their children in all sorts of ways, humans might be tempted to use this and that therefore it does become a form of eugenics. I’m not trying to make an exaggerated claim for what we have done at all but I think the reproductive technologies are being misused in my view. This is far more likely to be a serious threat than cloning. Cloning seems a useless technology.”

This innovative, yet still highly experimental technique could pave the way for a new development in genetics and for more diseases to be effectively cured–if it someday proves to be successful in humans.

CAJ #9: Creating a baby from DNA of three people–why not?


No, I didn’t make this up and yes, it isthanks to the quickly advancing DNA technologypossible to combine DNA of three parents to conceive a baby. Why settle with only two parents when you can have three, right?

Of course, this special process is not applied just for the fun of it. It’s a recent technique, developed by British scientists, which can serve to eliminate specific diseases that are caused by the mitochondria, tiny structures that supply power to cells, which are inherited solely from the maternal side. You might wonder why these diseases can’t be solved with PGD only. I’ll tell you why:

99.8 percent of our DNA is located inside our cells and is inherited evenly from our parents. The remaining 0.2 percent, however, comes from our mitochondria, the parts of the cells that function as the power supplies, and passes directly from our mother to us. Now, disorders in the mitochondria can cause very serious medical conditions, such as muscular dystrophy, heart failures, sight loss and brain damage. About one in 6,500 babies is born carrying some sort of mitochondrial diseases. And because this 0.2 percent comes straight from the maternal side, there is no chance to replace it with DNA from the father. So what can be done for these babies? Just add a third, female parent’s DNA to the mix. For this, a specialized type of IVF is used wherein the genetic material from the mother’s egg is transferred into the donor egg that has its own genetic material removed beforehand. This donor egg containing the mother’s genetic material is then fertilized with the father’s sperm. The baby still receives its physical traits completely from its biological parents, but that 0.2 percent of mitochondrial DNA that would cause so much trouble is provided from the female person who donated the donor egg. The result: a mitochondrial disease-free baby thanks to healthy mitochondrial DNA from an extra parent. 




Sounds great? Well, this procedure has not become legal yet because it is considered, once again, extremely controversial and rather experimental. The main reason why this procedure hasn’t been legalized yet is because it is considered germ line gene therapy, since the replaced DNA is passed on from generation to the next. Where is the harm in that if this procedure can eliminate mitochondria related diseases within the family? The problem is that other diseases or defects could be unknowingly passed on as this technique hasn’t been tested for that long. Several people have also expressed moral and ethical concerns, arguing that this technique could truly pave the way for Designer Babies and eugenics (=the prospect of creating a perfect human population by breeding for certain genes). It is also argued that traditional IVF combined with PGD could be used instead to prevent mitochondrial defects by using only a donor egg. This would mean that the baby wouldn’t be biologically related to the mother since there would be only the father’s sperm and the donor’s egg. To put a baby through the unknown risks and consequences of this technique over safe egg donation so that a mother can be biologically related to her child is believed to be even more unethical.

The UK government, however, is set to end the debate and legalize this inheritable human genomes modification. Ministers had decided that the health risks of mitochondrial diseases outweigh all concerns and that regulations will most certainly be drafted by the end of 2014. It is predicted that by early 2015, the UK is going to become the first country worldwide to perform this “three-parent babies” procedure. While many scientists and doctors welcome this new era in genetics, others claim that it will result in more harm than good as the technique is too experimental and hasn't passed enough of the safety texts.


What do you think? Great solution to eradicate severe mitochondrial diseases in the first place, or just another way for scientists to “play god”?

CAJ #8: My mum is not happy about this!

I deliberately chose to talk to my religious, not-very-fond-of-technology mum about the highly controversial topic of Designer Babies. My sister was in the same room but did only join my laughter and, well, it was quite a fun discussion!

I began to explain that I am currently working on a journal to learn more about this advanced technology that is used to “design” a baby outside the mother’s body. I tried, as simple as possible, to explain the procedure known as preimplantation genetic diagnosis and that through this and in-vitro fertilization, doctors are given the chance to genetically modify embryos to reduce genetic disorders. She immediately remembered the movie we once watched together in which a girl was ‘created’ to help keep her older sister alive. So I asked her what she thought of this technology and she wasn’t entirely against it. She actually thought it was great because it can prevent unborn children from having genetic diseases. She also added that it is a wonderful opportunity for infertile couples. Then I continued telling her that this technology is far more advanced than most of us realize and that in the not too distant future, it will be possible to preselect all sorts of traits and qualities to create perfect human beings. She asked what I meant and I elaborated and told her that parents, wealthy parents in particular, will most certainly be able to choose traits such as height, longevity, appearances, etc., just like it is already possible to select the gender. “What are they teaching you at this university?” were her exact words. After my sister and I had finished laughing, I told her that this gender selection is really possible due to the fact that only the X and Y chromosome needs to be identified. She couldn’t really believe it, but got really angry and said that this is not natural anymore and that god is the only one who decides the gender and the other traits. I decided to defend this concept of designer babies and asked her further why she thought that this isn’t acceptable but that it is okay for babies to be born without diseases. Why shouldn’t parents have the chance to provide their children with the very best? She couldn’t quite present some objective arguments because she kept saying that it is simply not right to create a baby the way you want it since having a baby is a miracle by god and that scientists have no business interfering with that. I argued that god created the earth and everything in it and that he wanted us to profit from it all, so why shouldn’t we benefit from this advanced technology as well? She starred at me and asked what was wrong with me and if I now consider doing that someday. It went on like this for a couple of minutes with my sister and I laughing even more as my mum told my dad, who had just arrived home, that we had gone crazy and wanted to interfere with god’s creation.

This conversation proved that this growing trend of designer babies will certainly cause a lot of controversy. I honestly don’t know yet what to think of it all, but since I have been reading a lot on this topic lately, I now see things from other perspectives and have therefore become more open minded.

CAJ #7: The prospect of “Designer Babies”: innovative or frightening?

If you had been given the choice, wouldn’t you have wanted to be born with a different eye color, skin tone or a smaller nose? Perhaps you would have chosen to be more athletic, taller or thinner. So, why is it publicly considered so wrong to make use of this advanced technology to provide our children with the very best there is? Why is the prospect of creating healthy, good looking, almost impeccable human beings seen as an abomination to human nature?

As with nearly all medical interventions that have to do with reproductive biology, PGD causes a great deal of controversy, to say the least. It is therefore outlawed in many countries, such as in Austria and Switzerland, and accessible in certain countries, like in the UK, US and China but with limitations to its application. For instance, this procedure is, in addition to detecting diseases, allowed to be used for sex selection to avoid sex-linked diseases but strictly forbidden solely for sex selection. Perhaps I need to first establish that there is a difference between therapy and enhancement. Therapy involves the use of technology to treat or cure diseases, while enhancement is the process of selecting specific traits to “designing” a desired baby. The term “Designer Babies” was originally taken from designer clothes and is currently used by the press and opponents only to indicate the disapproving implication of the transformation of human beings. While the foremost use of PGD is to prevent serious genetic disorders, it is, however, difficult to draw the line as to what a ‘serious’ disorder is. While some people may interpret serious conditions as something interfering with a person’s survival, others think it is something preventing an equal advantage in life quality.

Even though the idea of using advanced reproductive technologies for enhancement has been raising most of the ethical questions, there are still thousands of people who oppose the alteration of the genetic code to screen for genetic disorders. These people argue that being an embryo is as much a part of the lifecycle of a human as an infant, child or adult and that it must not be discarded if a genetic defect has been diagnosed. An embryo is a form of life and should be respected, much like pro-life campaigners (e.g. anti-abortionists) would say. They believe that scientists shouldn’t attempt to “play God” and interfere with his creation. On the other hand, supporters state that if we want to draw a line on Designer Babies, we have to draw it in a different place. We should at least use these advances within genetics to detect diseases. To say to never genetically engineer an embryo because it is not the ‘norm’ in our society and leave children impaired or dying, is not the right ethical course either. Did you know that it is possible for PGD to prevent 5 to 10 percent of all cancers? More recently, PGD has been used to diagnose cancer predisposition syndromes, such as for breast cancer. And so scientists claim that not using these technologies would be immoral and unethical.

There is also an ethical concern regarding the purpose of savior siblings. These embryos are conceived with the aim of saving their sick sibling’s life by providing a tissue-matched blood stem cell transplant. How ethical is it to bring in a life in order to save another? In addition, most of the savior siblings are exposed to a number of medical procedures from the day they were born. Not only do they suffer from physical pain and stress but can also suffer from tremendous psychological stress. They might see themselves as only a means to save their siblings and nothing more.

It is indeed a heated issue that is not likely going to become the “norm” soon. However, it also took people some time to get used to the concept of IVF and now it has become commonplace. But where should the line be drawn in relation to all the ethical concerns? More on the ethical debate in the following posts!

CAJ #6: Computational Genomics

Computerswhat do they have to do with genetic engineering?
Well, sequencing the first human genome took an effort of almost ten years, but the introduction of advanced computer technology has enabled to complete a DNA sequence within just a couple of hours. This is achievable through Computational Genomics, also referred to as Computational Genetics, which is used to quickly analyze entire genome sequences of cells and organisms into a set of data. One example of this field is the HGP that could not have been completed in 2003 if it had not been for the developed, computational sequencing methods. Nowadays, there is no need for geneticists to spend endless days in laboratories using highly toxic and radioactive chemicals to sequence genomes, as it used to be the case around the 1970s. Computational genomics is one of the numerous sub fields of computational biology which has become an essential tool to biological discovery and “involves the development and application of data-analytical and theoretical methods, mathematical modeling and computational simulation techniques to the study of biological, behavioral, and social systems” (Wikipedia). This computational science has been used to help create accurate models of the human brain, sequence genomes and much more. The sub field, in particular, focuses more on whole genomes, rather than on single genes, in order to have a better understanding of how the DNA of a living organism determines its biological function at the molecular level–and beyond. It is also intended to be used to sequence genomes of other types of life, such as animals and bacteria.

So, why computational genomics? Genomics are sequenced with computers and algorithms for the following reasons:
  • reduction of the cost for detailing genomes; therefore, no need for additional experiments 
  • detection of defects in DNA sequence
  • fast location of genes by sorting through the genetic material
  • identification and simplification of the information by implementation of mathematical algorithms and analysis 
A screenshot of a sequenced genome
Thanks to computational genomics, a great deal of base pairs and sequences have been able to be defined and registered online in the GenBank sequence database (=virtual collection of all available DNA sequences and their protein/base translations). Although considered highly unethical, it will be able to have several positive outcomes, such as:
  • individualized healthcare; it could allow for doctors to prescribe medicine and treatments based on the patient’s pre-analyzed genetic patterns 
  • finding new cures to rare diseases
  • reducing the cost and time for genomic sequencing 
This field of science is, however, still ‘under construction’. There are several other research projects who are currently working on this area to come up with new numerical and computational approaches. But since computing plays a crucial role in the field of genomics, it is predicted that software and system improvements will soon be available.

CAJ #5: The Human Genome

Since the turn of the millennium, a group of scientists have found out more about the human genomethe genetic blueprint for a human beingthrough the international Human Genome Project (HGP) that was conducted from 1990 to 2003. Why was this project of great importance to genetic engineering? Here is why: Our human body resembles a complicated, encrypted code that scientists attempt to crack through mapping the human genome. Everything we are physically and that makes us unique is controlled by around 25, 000 genes that are located within our DNA (=deoxyribonucleic acid). Each chromosome of our total of 46 chromosomes holds an assortment of genes. These genes create different proteins that, among other things, determine specific structures or functions in the human body. For instance, how the organism looks or how it fights infections. DNA, the building block or molecule of life, comprises the genetic code which is basically the description of who we are. This code contains four letters, each representing a different base/protein: adenine (A) which always pairs with thymine (T), and cytosine (C) which always pairs with guanine (G). The particular order of these bases is extremely important. Long, double-stranded molecules, which are made up of four of these proteins each, are pulled together into the shape of a double helix (see image below). 



The human genome is the complete map of our DNA wherein all the genetic material can be found, the double helix that contains all of our genes. In order to identify all the genes and to determine the sequences of the entire human genome that contains approximately 3.2 billion base pairs, or letters, the HGP was launched in 1990. Because of this international 13-year effort that was sponsored by the Department of Energy and the National Institutes of Health in the US, approximately 25, 000 genes could be analyzed and their DNA sequenced. This made it simpler and more efficient for scientists to screen embryo cells for genetic or chromosomal defects. Kind of awesome, isn’t it?

For a more animated explanation, see the following short video: http://www.youtube.com/watch?v=VJycRYBNtwY

Although it would be technically feasible to manipulate the genes of embryo cells to go further than “only” prevent diseases of genetic or chromosomal nature, it is not yet actively applied due to serious ethical concerns worldwide. In February, 2009, when a fertility clinic in Los Angeles offered couples the possibility to choose their baby’s eye and hair color, public outrage ensued. 


This is, however, only the beginning of what genetic engineering will be able to do, especially with the rapid advances within genetics research. So what does this mean for society? According to Dr. Eric Swedin, Professor at Weber State University, “One can easily imagine in 50 to 100 years the popularity of 400-pound football linebackers, workers with superior strength or stamina, workers who excel in mathematics, or workers whose bones and organs can better withstand the effects of zero gravity for functioning in outer space.” While the Human Genome Project has already mapped out almost every gene and chemical base pair of the human genome, scientists continue to uncover the effects and interactions of each gene to learn which genes control specific traits, such as a person’s intelligence or athletic ability. As further techniques are being looked into to achieve these goals, it will not be long until we can modify genes for enhancement. 

Awesome or kind of creepy? You decide for yourself!