Proposed implementation

Proposed users of the Genomus

Since the main idea of the Genomus is to reduce the amount of autosomal-recessive diseases, we direct it to these groups of people:

  1. Everyone who is interested in giving birth to healthy children. The majority of people have never got their hereditary material tested. Genomus, as a preconceptional screening system, allows them to get their DNA analyzed and get understandable results.
  2. Planning pregnancy? - Compare your genotypes with Genomus and visit your local clinical geneticist! This is particularly true for partners that have relatives affected by autosomal-recessive diseases. Because of the specificity of inheritance, mutations associated with these diseases are passed from parents to kids. That means they may carry the same mutation.

Genomus is a preconceptional screening system so it compares two genotypes in terms of the mutations users carry.

However, it can also be used just as a regular genetic screening system if users are not planning to analyze their genetic compatibility. They still can get their DNA tested for 30 mutations associated with 4 most common autosomal-recessive diseases.

Proposed implementation

Before the lockdown because of the COVID-19 pandemics we took our first steps in implementing Genomus in the real world. As we genotyped approximately 1500 from Pirogov Medical University, these people can potentially compare their genotypes as soon as we hand their unique GENids and QR-codes out. We succeed in handing them out to approximately 200 participants before lockdown.

Unfortunately, there are restrictions to meetings organisation at Pirogov Medical University. For this reason we are planning to meet participants right after the situation with COVID-19 gets better.

As Genomus users get their results, they will have an opportunity to know a little bit more about their genetics.

Data safety

For personal data safety reasons, we developed a scheme where the only way to get GENids and QR-codes is to visit one of our meetings with Genomus users held in Pirogov University. We’ve chosen to hand out GENids on paper because it is more reliable than electronic mailing.

We're in the process of developing a new secure way of providing our future users with their GENids and QR-codes.

We challenge to make this process convenient for users outside our university & available during pandemic.

There are also risks of personal information leakage on the website. To prevent it, our security and safety specialist 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.

Other challenges

In the future, when Genomus is widely used, the amount of the samples will be huge. We already developed the method of working fast & safe and keeping samples in the right order. However, it may be still challenging to work with hundreds of thousands samples. Our solution is robotic automatization of the laboratory at Pirogov Medical University.

How other iGEMers can build up on our project?

We created a huge biobank with depersonalised human DNA which is allowed to be used by researchers. We can provide other teams working on population studies with genetic information from our database. It’s legal because all our participants agreed with further usage of their samples in informed consent form.

We also developed methods and protocols for biomaterial collecting and processing. We're trying to automate all the lab processes, maybe our engeneering solutions (hardware and software) will be usefull for other teams working with huge amounts of samples.

We can provide other teams with the API of our website.