In what ways does our project Genomus benefit society?
Our project Genomus is focused on reducing the amount of autosomal-recessive mutations (and, consequently, diseases) in the human population.
Autosomal-recessive diseases seem to be rare in the global population. However, the situation is much more severe if we take a closer look at genetics.
How’s that possible?
Most of us carry recessive genes for various diseases inside our DNA and know nothing about it. We can go through life unharmed because we also have a healthy, dominant copy of the gene. But when two parents who each carry a defective copy of a gene have a child, there’s a risk that their offspring could end up with two defective copies of the gene. Worldwide, roughly 5% of children are born with serious birth defects caused by a single gene mutation.
And that’s exactly what happens with diseases inherited by the autosomal-recessive way.
Fig.1 Autosomal-recessive inheritance. If both mother and father carry the same mutation, the probability of giving birth to a healthy, sick and healthy carrier are 25%,25% and 50% respectively.
Which diseases are autosomal-recessive?
There are more than 1500 autosomal-recessive diseases. During this iGEM season our team has been working on detection of 30 mutations in 4 genes associated with cystic fibrosis, phenylketonuria, galactosemia and sensorineural hearing loss. These are the most frequent diseases in Russia.
Even though it is possible to diagnose the carriage of autosomal-recessive diseases, there are a couple of problems:
- It is expensive
- It’s not available in terms of basic health insurance (speaking of Russia)
- People need to have special biological or medical background to understand the results
For this reason, our team has developed a system of preconceptional screening which is called Genomus.
Our system allows users to get their biomaterial (blood or saliva) tested, receive clear results and automatically compare genotypes with their partner. There’s also a notification system which gives users recommendations for the next steps.
There are two possible comparison results:
- You and your partner don’t carry the same mutation. Everything's alright!
- You and your partner carry the same mutation. In this case our system recommends visiting a clinical geneticist as the chances of giving birth to a kid of autosomal-recessive diseases are pretty high (25%). We advise not to worry about it but to think wisely and make decisions according to the specialist's opinion.
As a result, even if both future mother and father are carriers of an autosomal-recessive mutation, they still can have a 100% healthy kid.
Global usage of our system will significantly reduce the amount of monogenic-recessive diseases worldwide.
Why’s it so important to reduce autosomal-recessive diseases?
- These diseases significantly reduce the longevity of patients and the quality of patients and their relatives lives
- There’s no widely-available and 100% effective treatment for the majority of autosomal-recessive diseases.
- Due to the specificity of these diseases, treatment is extremely expensive. We also need to treat the complications the patients have.
- Medication of 1 patient with cystic fibrosis approximately cost 23000-45000$ per year. Such amount of money is a ball and chain for economics.
Mutations are something we can never control or take care of. They are unpredictable and appear suddenly. For this reason, Genomus is a necessary system for broad usage.
We understand that the price matters (especially for emerging states) and therefore our system is based on Polymerase Chain Reaction (PCR). This method is widely used in molecular and synthetic biology and allows us to make the process of diagnostics relatively cheap and pretty precise. Now PCR genotyping costs us approximately 1500RUB (~20$) per one participant.
Genomus is cheaper and therefore more affordable for young families (our target group) compared to any commercially available screening programmes. Usage of PCR genotyping for extensive screening purposes is yet more advisable compared to whole genome (WGS) or exome sequencing.
Dmitry Korostin, “Genotek” R&D Director, Head of the Genome Center of the Research Institute of translational medicine of Pirogov Medical University helped us to evaluate Genomus prospects. His advice and comments were really useful for determination of further development oportunities of the Genomus project.
How does our approach compare to alternative solutions to the problem of autosomal-recessive diseases?
We conducted research on alternative solutions to the problem of autosomal-recessive diseases. It appears that Genomus is the only preconceptional screening system which allows you to receive understandable results of genetic tests and automatically compare them with your partner. Another important part is that the process of comparison is instantaneous and error-free.
You might have heard about George Church’s dating app called digiD8. However, his idea was to include serious genetic disease as a part of the criteria on a dating app — by asking users to submit their DNA for WGS.
First of all, his app prevents two carriers of the same gene for a rare genetic disease from even meeting in the first place, by making sure they can’t view each other’s dating profiles. In contrast, our system doesn’t discriminate against users based on their hereditary material. We offer up-to-date solutions to salvage your family and help to obviate difficulties together.
Secondly, he uses WGS which is more expensive compared to PCR. The results of the sequencing also need to be analysed by special bioinformatics tools which takes time and money. PCR is a more convenient and cheap method for single-nucleotide polymorphisms screening, which has great prospects for the development of out-of-laboratory portable and easy to use applications.
Which communities may be most interested in the Genomus?
First of all, we address our project to everyone who’s planning to have children.
To substantiate the importance and practical implementation of Genomus, our team regularly visits children with cystic fibrosis at the Russian Children’s Clinical Hospital, which cooperates with Pirogov Medical University. We talk to them to understand better what they experience in their everyday life and how it is important to develop Genomus.
Here’s our interview with some of the patients:
We also talk to medical doctors to get new and relevant information about the situation with autosomal-recessive diseases in Russia. This consultative support helps us to choose the best target genes and mutations. We also discuss how we can expand the testing system in the future.
Sergey Y. Semykin, MD, PhD, Pediatrics Department chief in Russian Children’s Clinical Hospital helped us to calculate treatment costs for patients with cystic fibrosis to prove economic benefit from our project. He also helped us to organize a meeting with his patient’s parents and inspired us a lot.
We organized a meeting with a woman whose daughter has vlcad syndrome.
Vlcad syndrome is one more autosomal-recessive disease which is almost incurable. After our meeting we’ve come up with the idea to analyze mutations associated with this pathology in the future.
Here’s our interview with the mother with English subtitles:
How might our solution to this problem lead to other problems?
As we develop Genomus, we face some ethical problems. We’ve asked people from non-medical and biological areas and our potential users how they feel about the Genomus and preconceptional screening in general.
There are two opinions on our system.
Some people are sure that Genomus is an extremely important system to use for pregnancy planning and would definitely use it by themselves.
We also asked relatives of children with cystic fibrosis if they would have used Genomus. All of them said that it'd be extremely useful to use preconceptional screening and Genomus, in particular, as their lives changed in a really unfortunate way because of the genetic pathologies.
However, it appeared that some people don't want to know anything about their future progeny. Others are afraid of mistakes at the laboratory.
There are also risks of participants' personal information leakage and the spread of infectious disease from person to person during sampling and biomedical waste management.
We also heard an opinion as to discrimination of deaf people with our project. Including new diseases and extension of our project seems to be an ethical problem itself.
We are aware of these ethical implications and reservations and therefore continuously work on Genomus’s improvement.
Firstly, Genomus is NOT a mandatory system to use. If people prefer not to know about the mutations they carry, they can go without genetic screening. Another question is that, knowing is the first step to a happy and healthy future for their children. However, that’s voluntary and we’re open and tolerant to all the viewpoints.
Secondly, to minimize the possibility of making mistakes and to reduce the human element, we use special logistic protocols and robotic equipment trying to automate all the routine lab processes. We regularly conduct check-ups so that our robots work perfectly. We use robust algorithms of data uploading and genotype comparison, eliminating any mistakes on that step.
Speaking of risks of personal information leakage, our security and safety specialist Fyodor helps us by organizing security and safety webinars, monitoring hackers' attacks and other types of suspicious activity on the website and conducting regular check-ups of the equipment. He helped us to organize personal data storage securely, gave us plenty of lifehacks and works with us on the secure channel for GeneID and personal data exchange with our future users from outside of Pirogov University.
We use special uniforms and equipment to collect biomaterial samples and make sure there’s no infectious spread from person to person.
lastly, we do not discriminate anyone on the basis of disability, mutations carriage, race, color, religion, national origin, sex, maritial status or any other potentially discriminatory factors or circumstances.
That’s the fundamental concept of the Genomus and team Moscow-Russia.
What’s our plan to inform and work with relevant authorities or stakeholders of potential risks related to your project?
We've already had several meetings and discussions with the ethics committee and got their approval to conduct our research at Pirogov Medical University. We send them reports about our work regularly.
How many people are potential users of the Genomus?
We believe that preconceptional screening is a crucial thing for pregnancy planning. For that reason we hope that everyone who is thinking about having a kid, may use Genomus. However, we understand that some people prefer not to know anything about the mutations they potentially carry so there’s no pressure in using Genomus.
We also highly recommend people, whose relatives have any of the autosomal-recessive diseases to pay attention to their genetics. Especially if they are interested in having children.
How do we get feedback from Genomus users and how will we adapt Genomus based on this feedback?
On the Genomus website, we put our email address firstname.lastname@example.org to let any user contact us and let us know about any concern.
We also encourage our users to leave comments and their opinion on the website’s work and our system in general.
Based on the feedback we will improve our system and make it more user-friendly.
Fig.2 A screenshot of our website where users can find our email and contact us.
Other events our team takes part in
Fig.3 Aleksandr presented a lecture about methods in Molecular biology at Educational Center for talented school students
Our team leader Aleksandr recently presented a lecture on methods of Molecular biology used in diagnostics of autosomal-recessive diseases. He also explained why it is important to know about the carriage of these mutations and how our project Genomus can significantly reduce them.
It was an amazing experience! We decided to keep on popularizing Molecular and Synthetic biology to let more people know about the importance of these areas of Life Sciences.