Our Genetic Reports Explained

Genomes.io allows you to contribute your powerful yet highly sensitive genomic and health data to supercharge medical research and development, all without giving up privacy, security or ownership control of your data. But what can Genomes.io tell me about myself from my DNA?

The future vision and short answer is: whatever YOU want to know, based on proven genetic understanding at that time.

With Genomes.io, you own your DNA. You control access to your data and therefore YOU decide what you want to know, and equally importantly, what you don’t want to know about yourself. We make this easier for you by providing libraries of genetic tests (e.g. personal traits, health risks, wellness traits, carrier status, drug response, etc) on our website, and giving you the option to run these reports on your data should you want to. These tests will only be run when you explicitly grant permission to do so using your Genomes.io mobile app.

The amount of information we can already interpret from a human genome is truly incredible. SNPedia represents the wiki for human genetics and already contains over 100,000 SNPs (positions in DNA known to contribute to expression of a trait, e.g. eye colour, disease risk, etc) used by all major genetic testing companies. But every day, genetic research is being carried out at an exponential rate to decipher what the remaining 2,999,900,000 As, Cs, Ts, and G’s in the human genome actually mean.

In the coming years, the amount of genetic information we will have available at our fingertips is almost unimaginable. But Genomes.io will ALWAYS give you total control over what you want to know and when you want to find out this information. For example, you might want to know useful and actionable information, for example whether you are a carrier for cystic fibrosis, or how you respond to a certain medication. But you may not want to know other information, such as your risk of developing a currently untreatable condition like Alzheimer’s disease, which may result in more psychological harm than health benefit.

To give you this choice, we have a dedicated and growing team of bioinformaticians working to establish a wide and diverse library of genomic reports made available to you through Genomes.io.

Carrier Status Report

One of our very first genetic reports is our Carrier Status report. This is a set of reports that gives you information on whether or not you are a carrier for certain hereditary conditions. This type of test can quite easily, and very definitively determine whether you are a carrier for these conditions. If you are a carrier, this will most likely not affect your health, but may affect the health of your children.

The conditions we test for are:

  1. Monogenic: Caused by a mutation in a single gene.
  2. Autosomal recessive: Condition must be passed down by BOTH parents (e.g. both parents must be carriers).

Humans have 23 pairs of chromosomes, and within each chromosome, there are two copies of each gene. You receive one from your mother, and one from your father. Carriers have one ‘faulty’ and one ‘normal’ version of the gene, and are not affected by the condition.

However, if both parents are carriers, there is a 25% chance that a child will inherit two copies of the ‘faulty’ gene, and will be affected by the condition. There is a 50% chance that the child will inherit one copy of the ‘faulty’ gene, and be a carrier. And finally, there is a 25% chance that the child will inherit two copies of the ‘normal’ gene, and will neither be a carrier or affected by the condition.

Again, our report is ONLY testing whether or not you are a carrier for the condition, NOT whether you actually have the condition. A sample extract of our cystic fibrosis carrier status report is below.

The first section gives you an introduction to the condition and your overall result.

The next gives you more information about the test and how you should and should not interpret the test.

This is followed by more detailed information about the condition, including symptoms, causes and the variants we tested for in the gene.

Carrier status is just the start. We will continue to add reports that you and ONLY YOU can choose to run over time.

Let us know what you think! Get in touch through our Discord, Twitter, Facebook, Telegram or at info@genomes.io. We’d love to hear from you!

Best,

Team Genomes