Genetic screening in Lynch Syndrome: my thesis.


For this last post, I’ll use my thesis as a source of inspiration. I want to focus on the genetic screening in Lynch Syndrome and its consequences for patients and their families. Due to confidentiality, I can’t go into detail on what I’m exactly doing, so I’ll keep it general.

I want to refer to a comment I made on my very first post, see:

In this comment you can read about the screening procedures used to identify patients with Lynch Syndrome. The search for the specific mutation can be started, if the patient meets a certain set of criteria, called the Amsterdam II criteria, or if he/she meets the revised guidelines of Bethesda and it’s proven that he/she ha a tumor with a MMR defect. If Lynch Syndrome is diagnosed, the patients have to be screened regularly, because they have a major increase in cancer tisk throughout their lives. The same goes for their at-risk family members.

So when the diagnosis ‘Lynch Syndrome’ is made, it’s not only the patient who has to endure and live with medical consequences, it’s possible that also his/her family members have to do so. When a pathogenic mutation is found, other familymembers have to be screened as well for these mutations. If they also carry the pathogenic mutation, they also have to be screened regularly for tumors because of the increased cancer risk. This screening includes regular preventive colonoscopies. These procedures aren’t pleasant and unpainful. Also they have to live in constant fear that they might get cancer someday because of this genetic disorder. The main clinical feature for Lynch syndrome is an early age of onset, so the screening has to begin early in life. The average age of getting cancer in Lynch Syndrome is 40-45.

As with any disease and treatment, the patients have to get the right support and information. It’s important that they see the right people and receive the right help. Doctors are a big part of this aspect, to help get the patients in contact with the right people and organizations.

As any disease, Lynch Syndrome has an enormous impact on the patient’s life and his/her surroundings. LS means a life sentence of constant worrying and regular unpleasant preventive treatment. Due to the genetic aspect of this disorder, the entire family is affected, psychologically and maybe even medically. A tremendous and difficult burden to carry your entire life.


Vasen, H. F., I. Blanco, et al. (2013). “Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.Gut 62(6): 812-823.

Steinke, V., C. Engel, et al. (2013). “Hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome.Dtsch Arztebl Int 110(3): 32-38.

Intermezzo: GATTACA

What if society is driven by the belief and practive of improving the genetic quality of the human population? If children are conceived through genetic manipulation to ensure that they possess the best hereditaty traits of their parents?

This is the subject of GATTACA, a science fiction movie directed by Andrew Niccol in 1997, with Ethan Hawke and Uma Thurman. This movie draws on concerns about reproductive technologies which facilitate eugenics, this belief to improve the genetic quality of the human population, and the possible consequences these technologies can have on society and day-to-day life.

GATTACA tells the story of Vincent Freeman, played by Ethan Hawke. He’s a young man, who lives in a society, where children are conceived using genetic manipulation to create improved human beings, and DNA plays the primary role in determining the social class. A genetic registry database is used to identify and classify ‘valids’ and ‘in-valids’, which are more suscesptible to genetic disorders. Vincent Freeman is conceived without this genetic manipulation and after his birth, his DNA is tested and indicates he has a heart defect and a high probability of developing mental disorders.

Vincent dreams of a career in space, but is constantly reminded of his genetic inferiority and due to frequent screening, he faces genetic discrimination and prejudice. He’s forced to forget his dream of ever getting to Saturnus. Or maybe not?

For the rest of the plot, you’ll have to watch the movie !

Two posts ago, I talked about the designer baby system and 23andMe, a company which received a patent for such reproductive technologies that make eugenics possible. But this topic was already important 17 years ago, important enough to make a movie about it. Nowadays, the possibilities of technology are endless. So this relevance of this topic has even increased. The ethics and consequences of these technologies has to be considered and some ground rules have to be determined.


LASALLE M., (1997). `Gattaca’ a Not-So-Perfect Specimen / Hawke only adequate in futuristic thriller

KIRBY D., (2000). The new eugenics in cinema: Genetic Determinism and Gene Therapy in GATTACA

Genomic Sequencing: A tool to solve crime !


In my previous posts, I talked about using genomic sequencing for hereditary diseases and its social impact. Today, however, I’ll discuss the use of genomic sequencing for an entirely different application, namely the investigation of biological traces in crime and the identification of perpetrators, or in other words the use of this technology in forensics.

Every person carries genetic variations in their genome, which make it possible to generate a unique DNA profile for every single person. When comparing the profiles of two different persons, you can distinguish one from the other. This DNA profile can not only be generated using the DNA of an individual, but also by using biological traces which can be found on the crime scene. By comparing the DNA profile, from the biological trace, with the DNA profile of the victim or the perpetrator, you can determine which one was the donor of that specific biological trace.

Nowadays, DNA-research is a standard tool for forensics, but keeps on evolving due to technical development. This makes it possible to analyze smaller amounts of biological material in a faster way. In the beginning, it was only possible to perform DNA-research on blood, saliva or sperm, because these body fluids contain a lot of cells, so also a lot of DNA. Nowadays they can also use traces of skin, urine, faeces, teeth and bone to draw up DNA profiles. The traces of skin are the most common biological traces found. In some cases, though, it isn’t possible to draw up a DNA-profile from a trace of skin. Only 6 out of 10 persons are a good donor of skin traces, which means that they leave skin traces when they touch an object and that makes it possible to draw up the DNA-profile for them. Also, it can be that a skin trace has the DNA of multiple persons, because multiple persons have touched that object. In that case, we have a “mixed DNA profile”. In most cases, only the identity of one of the donors can be found, by comparing the mixed DNA profile, with the profile of the suspect. The identity of the other donors will be unknown.

The DNA-profiles of biological traces and suspects/perpetrators are being kept in databases. In Europe, these databases are used for automatic comparison, which means that the DNA-profiles have to be drawn up in the same way in every country. This will increase the chance for identification, because a perpetrator can run to another country continue doing crime.

But how would the technology of genomic sequencing change this successful system of forensics?

First of all, this technology won’t be implemented routinely yet, due to it’s high cost. At the moment the price of using this technology is about 100 times more than when using the technology to draw up a standard DNA profile. But, bearing in mind that the prices for genomic sequencing is dropping rapidly, we have to keep our options open. Although using this technology on a daily basis is not an option yet, a couple of aspects of DNA-research would benefit from this technique. First of all, as I mentioned earlier, the current technology can only bring the identity of the dominant donor of the mixed DNA profiles. By using genomic sequencing, it’s possible to generate the sequence of every single DNA-fragment in that profile and thus generate a DNA-profile for every donor of that trace. Secondly, this technique can also be used to analyze the total mitochondrial DNA-genome of hairs. Hairs, which are found at crime scenes, are hairs, which fell out spontaneously. These hairs don’t contain hairrootcells anymore, so it’s not possible to draw up a DNA profile, using the traditional technique. By analyzing the total mtDNA genome, the donor can still be identified.

At the moment, I don’t think it’s necessary to implement this technology in forensics. I don’t think that forensics is screaming for it and that they would benefit more from using genome sequencing. The current techniques are sufficient for the identification of donors of biological traces. If they would implement this technique, it would be a lot of work to update all the databases now available, to keep automatic comparison possible.  Ofcourse, genome sequencing has some benefits in comparison to the traditional techniques, but until the cost for genome sequencing lowers,  I don’t think it will be beneficial to implement it on a daily basis.


BERGLUND et al. 2011. Next-generation sequencing technologies and applications for human genetic history and forensics.  Investigative Genetics , 2:23

ILLUMINA. 2013. Targeted Next-Generation Sequencing for Forensic Genomics.

MATTHIJS G., VERMEERSH J., Wat met GENETICA, Lannoo Campus, Leuven, 2013

The designer baby system.

designer baby

Imagine that you want a baby, but not an ordinary baby, a baby that fits your wants and wishes completely, your dreambaby. Well, the american company 23andMe can fulfill all these wants for you.

The U.S. Patent and Trademark Office (PTO) has awarded this company a patent on ‘gamete donor selection’. This patent gives 23andMe the exclusive right to genetic and computer technologies that would enable prospective parents to handpick a sperm or egg donor with whom they would be likely to produce a child born with certain traits that they desire. Also couples who are already planning to have a baby can use this patent, to determine the likelihood that their child would have the desired phenotypes.

The use of this technology to avoid disabilities or hereditary diseases would be magnificent. Nowadays a lot of techniques are already used to prevent hereditary conditions on a routine basis. But this patent goes beyond medical conditions, however. It enables the parents to give their preferences for a range of non-health related traits, like sex, height, weight, hair color, eye color and even personality characteristics or their ability to become a professional athlete.

The company has denied that they intend to use this technology for anything more than a way for customers to preview trivial traits. They say they don’t pursue the donor selection concepts as described in the patent and that they have no plans to ever do so.

Personally, I see the benefits to use this technology to prevent serious disabilities and hereditary diseases. But wanting to create your dreambaby, by defining its hair color or its ability to be a professional athlete, just goes to far. Ofcourse, every parent wants his or her child to have a happy and successful life, but there are ethical and social limits, which have to be respected. What are your thoughts on this subject?

More information:

Intermezzo: From life comes art.


And unique art, it is. DNA 11, a company founded in 2005, delivers DNA portraits. You only have to order their DNA portrait kit. You’ll get the kit, which includes a cheek swab kit. You take your own DNA, you package it by following the given instructions, you choose a color scheme and send it. A couple of weeks later, you’ll receive your own DNA portrait, which is as unique as you are. Beautiful, no?

Personally, I don’t think I would ever hang a print of my own DNA in my living room. I do like the fact that they try to bring together science and art. Science is more than difficult words and formulas, white coats and articles. Science is beautiful, beautiful enough to end up in someone’s living room.

What do you think about this art form? Would you like to hang a print of your DNA in your living room?

Some more examples of DNA portraits can be found below and more information can be found on:

Genomic sequencing: Possible effects on society and day-to-day life. Part 2.


In my previous post, I discussed the effect of knowledge of genetic profile on our insurance system. Today, I will look at the influence on employment and more specifically how an employer will handle a genetic profile.

Actually, it’s very simple. An employer has no business with the genetic profiles of his employees. Genetic profiles are protected by the privacy legislation in Belgium. But of course, as always, exceptions exist. There are situations in which an employer could come in contact with a genetic profile of an (possible) employee. In these specific situations, an employer is allowed to have knowledge of the medical records of employees, when it’s necessary for obligations, imposed by the labour legislation.

The first situation is a medical examination. It’s the employer’s duty, by law, to take care of the health of his employees. These laws exist with the primary goal to protect the employees. People, who aren’t  suitable to do a certain job, due to health issues, should not be working. This seems a good way to protect the employees who are more sensetive for the consequences of a certain job. But what if this cordial measure is misused and genetically good employees can get distinguished from the genetically bad ones? Then, genetic screening will lead to discrimination. But then, there’s legislation. In Belgium, a law states that it’s prohibited for an employer to include predictive genetic screening in medical examinations. Every aspect of the medical examination should be connected to the current suitability of the employee to do his job, not his future suitability. The second situation, in which the employer is allowed to have knowledge of medical records, is when controlling the working inability of an employee. As in the previous situation, every aspect of this check-up should be connected to the current working inability of the employee.

It’s very important to understand that in both of these situations, the examination has to be executed by an medical practitioner. It’s obvious that it’s not the employer himself who’s going to give you that examination. So the employer will never come in direct contact with your medical records. And as always, medical practitioners are bound to the law of confidentiality. It’s prohibited that they share medical information with anyone, including your (possible) employer. They can only give them the conclusion of their examination.

So, in Belgium our jobs are protected from the dangers of genomic screening.


MATTHIJS G., VERMEERSH J., Wat met GENETICA, Lannoo Campus, Leuven, 2013

SAGRADO B., (1999). Genetic screening: the social impact of genetic knowledge.

 STEWART J., TRAN D.T., The ethical imperative in the contect of evolving technologies, Ethical Publishing, Boulder, 2004

Genomic sequencing: Possible effects on society and day-to-day life. Part 1.


In my previous post, I featured the TED talk of Richard Resnick, the CEO of GenomeQuest. He briefly discussed the impact of genomic sequencing on medicine and on society and day-to-day life. In this post, I will continue on this subject and I will look at what effects genomic sequencing can have on society and day-to-day life, and more in particular on our insurance system.

So I just recently had to buy life insurance.And I was required to answer:A. I have never had a genetic test, B. I’ve had one, here you go,and C. I’ve had one and I’m not telling.Thankfully, I was able to answer A,and I say that honestly in case my life insurance agent is listening.But what would have happened if I had said C?

Richard Resnick – TED talk

Our current insurance system only works because individual persons don’t have enough information to predict their own expenses. An insurer, however, can bring risks together and estimate the average expenses for diseases and accidents for the entire group of insured. This way they can determine an average insurance premium, which will be sufficient to cover all the expenses of the insured. But the fact is, this system depends on the right information to work.

What will happen to this system if the giant amount of information, generated by genomic sequencing, will become available? Will this information lead to distinguishing the “expensive” clients from the “cheap” ones? We can assume that the prediction force of genome sequencing will have a big impact on the current system.

Imagine two persons, person A has a good genetic risk profile, but person B is less fortunate and has a bad genetic risk profile. Also assume that the insurer has all the information necessary to distinguish these two persons. This could lead to a much higher insurance premium for person B that for person A. An unequal treatment of two persons, purely based on genetic factors over which they have no control at all. This does not seem right. The obvious solution would be to prohibit the insurers to offer different premiums to different clients, but this is not as easy as it seems. There are a lot of sneaky little tricks to get around that kind of laws, just being unfriendly to the right client can be enough. Fortunately, in a lot of countries, including Belgium, the usage of genetic information by insurers is prohibited.

But what if the clients know about their own genetic risk profile and make use of it while looking for insurance? Then the selection will be the other way around. The clients will determine which policy they want, by looking at their risk profile. Again a case of unequal treatment.

This unequal treatment can be solved by making an insurance obligatory and by using premiums which are independent of the genetic risks, but dependent on other factors. But even this system can be questioned. It’s a case that has to be reviewed constantly and has to be thinked of in detail before implementing any new systems.

What do you think? If genomic sequencing will be used regularly in day-to-day medicine, should this information be used for insurance or should the insurance premiums be independent of the genetic risk profile of the client? Which other factors should then be taken into account, according to you, when determining premiums for insurance?


HENDERSON M., (2013,September), Human genome sequencing: the real ethical dilemmas, retrieved February 04,2014, from

Desmet B. (2006). Genetisch onderzoek en verzekeringen. De wet van de (genetisch) sterkste. jura falconis, 42(4), 505-548.

MATTHIJS G., VERMEERSH J., Wat met GENETICA, Lannoo Campus, Leuven, 2013

Welcome to the genomic revolution !

The speaker in this TED talk is Richard Resnick, the CEO of GenomeQuest. GenomeQuest is a company that provides software to support genomic medicine. He also was a member of the Human Genome Project.

In this easy and accessible video, he shows us how genome sequencing will turn health care upside down. He starts by giving a short overview, in which he introduces the human genome and genomic sequencing. Then he explains the impact of genomic sequencing on medicine, by giving some examples. We have to bear in mind, though, that for this examples the genes and the mutations, responsible for the disorders, are known, so that diagnosis is possible. Like I said in my previous post, in a lot of cases the genes and mutations involved, are not known. Also, when genomic sequencing is performed, we reveal an entire human genome and, thus, thousands of genetic variations. So finding the gene(s) and mutation(s) responsible for that specific patient is not as easy as it may seem.

The last part of his TED talk involves the impact of genomic sequencing on society and day-to-day life. This will also be the subject of my next post ! To be continued.