Genos – A Medically Focused DNA Exome Test

On June 21, 2016, I placed an order for a DNA test with a new company, Genos at http://www.genosresearch.com. The first week of October I received my results.

Genos is a new type of testing company, focused not on genealogy, but on the human exome and medical conditions. Of course, that doesn’t mean that the genetic genealogy community might not find a way to utilize these tests in the future – but today this test is not useful genealogically.

A typical genetic genealogy autosomal test tests between roughly 500,000 and 900,000 locations to compare to others to determine kinship. These are the most variable locations in our genome, the ones most likely to differ from each other and be genealogically useful.

Exome testing, on the other hand, tests 50 million locations – the ones most often medically relevant and the ones we know the most about. Testing the 99% or so of our genome that is exactly like every other human is pointless, for either genetic genealogy or medicine.

What is an Exome?

What is the exome? Genos explains.

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Let’s step through the ordering process, then look at my results. They are very interesting.

What is Genos?

Before ordering, I did a bit of research on what Genos offers, what makes them different, and what kind of potential they might have to help me understand my own genes and conditions that makes me unique.

Let’s take a look.

Founders

Genos was founded by these two men.

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The next tab is Values, and I’m really impressed, especially with number 4, below.

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And the Genos Vision:

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Let’s move to the Product page.

Product

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Ordering

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Your DNA at Genos is yours, entirely, and you can choose when, where and if you want to participate in studies, unlike Ancestry and 23andMe where the consent you MUST AGREE TO in order to activate your kit includes allowing them to sell and profit from your DNA.

Family Tree DNA does NOT sell your DNA. Family Tree DNA does not want the genetic genealogy community to associate genetic genealogy testing with medical testing, because of concerns that it might discourage some people from testing for genealogy.

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Before ordering, as with any DNA sequencing product or service, please read the Genos Terms of Service here. The Privacy Policy is here and the Terms of Use are here. These are all actually different parts of one larger document titled “Genos Legal Policies.”

As far as I’m concerned, this is the overarching important sentence:

We do not sell, lease, or rent your User Information without your explicit consent.

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Also keep in mind that as with all companies, policies can and do change over time – and it’s the consumer’s responsibility to stay current with the policies of any company you do business with.

A New Business Model

Genos is trying a new business model both in terms of testing the entire exome and in terms of allowing participants to actively participate in selecting research projects, so I decided to be on the frontier of this brave new world. You pay for the sequencing, but the results are yours, forever, whether you participate in medical research projects or not, and Genos doesn’t sell your DNA or otherwise share your DNA results without your permission. You own it and you control it. Period.

I want to contribute to and facilitate research, but I want to select the research projects in which I choose to participate. I don’t feel that it’s ethically or morally right for a company to in essence capture and co-opt my DNA by holding forth the lure of my ancestors as bait. Both Ancestry and 23andMe participate in this unsavory practice. The Genos model very specifically does NOT do that.

Right now, the Genos Exome sequencing product and services are in BETA.

I was the 98th person to order this test, although I’m sure many more have ordered since June.

Let’s take a look at my results.

My Personal Logo

The first thing Genos does is to introduce you to your genome by creating a personal logo for you, if you select that option. I did, of course.

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The circle twirled and locations on my chromosome lit up, like tiny fireflies. I wish I had taken a video.

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Next, my unique logo, derived from my DNA, was displayed beside my name.

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OK, that was fun, but now, let’s look at the data and what, as a consumer, I receive.

The Four Options

Your results are broken down into 4 categories. You can explore your genome, click on Health Identity, view the News or look at the educational Genomics 101 section.

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I first spent a few minutes looking at Genomics 101 which is professional and well written. It includes chapters covering questions like, “What is a gene?”

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The News section includes links to articles you may find of interest. Of course, I was dying to see my results, so I quickly moved on to the “Explore Genome” tab, where I saw the Map Your Genome page. So, let’s map my genome.

Map Your Genome

Genos compares your genome of the standardized Genome Reference Consortium reference model.

On the page, below, Genos shows me the 44,154 locations where I vary from the reference model, of which only 773 of these have known medical affiliations or mentions in medical papers. The key word here, of course, is KNOWN. The rest of the variants could be family differences, recently introduced or perhaps from generations back in time. Those locations may not be medically significant, or they may be, but we just don’t know how yet. Time and research will tell.

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Out of the 50 million loci (locations) sequenced, I have 773 variants which are certainly of interest and may or may not be relevant medically.

I wondered what happens when a new variant is discovered to be medically relevant or found in a new paper. Would my 773 become 774, or is this a static page, really only relevant to today? I wrote and asked Genos, and discovered that their customer support is very prompt, courteous and helpful. Here’s what they had to say.

At no additional cost to you, as the information in ClinVar (the NIH sponsored database) is updated with new assessments and new discoveries, your data will be automatically updated through our digital experience. This ensures that you are always aware of the latest literature available.

This is great news, making this product infinitely useful (medically) into the future.

You can view all of your chromosomes with the chromosome number and the number of identified variants present on each chromosome, below.  Please note that you can click on any image to see a larger version.

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Genos allows you to browse your medically relevant variants and what they may mean. The results are broken down into “Conditions” and “Traits,” as seen at right, above.

The Conditions are health related, but just because you have a mutation that may be associated in literature with a particular condition, that does NOT mean you have or will ever be diagnosed with that condition. In fact, as you can see, the literature itself is often contradictory. We don’t always understand what makes one person get a disease while another person does not.

For this reason, nearly every page that involves conditions also contains a link to genetic counselors along with cautionary messages that succinctly warn people against assuming that variant=disease. It doesn’t.

Individual Chromosomes

You can explore each chromosome individually.

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I clicked on variant 1, on chromosome 1, above.

If I click on the NEXN with the right arrow, I see the display below.

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If I click on the G>A which means the normal G nucleotide at this location has been replaced with an A in my case, I see the following:

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I can then read more about this gene and the mutational variant.

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I must tell you that I feel very empowered by having my own genetic information at my fingertips that was previously entirely unavailable to me, or available only through a medical provider, if at all.

Conditions

Moving now to the Conditions link on the right hand side of the main page, I can see the following conditions, grouped by category.

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You can explore the Conditions link for conditions associated with your variants, the Traits or the Variants themselves.

By clicking on the icons, you can see how many variants you have in each category. The first category is allergies.

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For example, here is one of my Conditions. I’ve chosen to share this one because you can tell by looking at my picture that I am clearly NOT albino.

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Still, I carry at least one mutation associated with this condition.

Estes Publicity

Almost every single page carries this warning verbiage, which is proven by my albinism mutation and my somewhat younger photo when my hair was still its original color!

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Variants

Variants are divided into groups.

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Most of my findings are benign. Whew!!!

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This is an example of one of my benign variants.

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You can see that while this mutation is mostly benign, or green, some papers show it to fall into the other risk categories.

Please note the verbiage at the bottom of the screen.

“What is believed to be true today may be disproven tomorrow.” That’s part of why I’m participating in this type of testing.

The screen for each variant goes on to provide the links to the studies themselves, which may or may not agree, so you can read and digest for yourself. Please, unless you’re an MD, do not attempt to be your own doctor!

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Traits

The Traits at Genos are the same traits that are tested and reported by other testing firms as well.

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Like other genetic values, variants and results, these may or may not be accurate. My hair is very thick, as you can see from my photo, I taste bitter very well, unfortunately, and my skin is not light…at least not for someone primarily Caucasian. Some of these traits are clearly subjective. They make for interesting party conversation.

Health Identity

The next section of the website if for Health Identity. This is where you provide information about yourself and your health history. 

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If you’re going to participate in this type of endeavor, it’s important to provide Genos with as much information as possible. That’s one avenue for Genos to know who would might be a good candidate for specific kinds of research.

Research

While there aren’t any research projects yet underway today, there will be in the future.

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And last but not least…

Genetic Counselors

If you discover something you would like to know more about, or that concerns you, you can make contact with a genetic counselor through the Genos site.

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Caveat

I am, personally, very much an advocate of genetic research, when it is preformed ethically, transparently and with full disclosure. As far as I’m concerned, Genos absolutely fits that bill.

However, if someone were prone to anxiety or hypochondria, this type of testing might not be a good fit.

I’m not prone to either, and I have a very high risk tolerance level, but I still am inclined to spend quite a bit of time looking at the variants that aren’t benign. If you are in the “don’t want to know” camp, then don’t test. Bottom line.

Let me say this again.

Don’t test if you really don’t want to know.

You cannot put the genic back into the bottle once it’s out.

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Exome testing is different than genetic genealogy testing and has the potential to reveal information which may be frightening or distressing to some people, which is why I shared my results with you in such detail.

Looking to the Horizon

Having said that, I find exome testing absolutely fascinating. I would like to see if my children have the same variants that I do. Did they inherit those from me or did those variants bite the dust in my generation? Are there variants that I carry one of and my children have two, meaning their father contributed one as well? What does this mean, health-wise, potentially, for my grandchildren?  What did they inherit?

Of course, today, exome comparisons between individuals are not possible at Genos (or elsewhere), but perhaps in the future?

Could this type of testing be a step forward in identifying conditions and diseases not yet “discovered” as we define them today? Some mutations affect particular individual family lines negatively, and sometimes fatally. Can exome testing help these families, if not today, then tomorrow? Exome testing certainly has that and a lot more potential.

I’m excited about being able to select and participate in research studies with the ability for the researchers to contact me to follow up many years into the future, if need be. The new Genos model allows citizens willing to have their exome sequenced the opportunity to help shape the future of medical understanding and potentially, contribute to treatments and cures – in addition to learning a great deal about their own DNA and literally what makes them tick.  Which studies you participate in and what happens to your DNA is entirely within your control.

I hope that a research project (or projects) that I participate in eradicates a disease or diseases so that my descendants will only read about the disease in history books and will hopefully know that their ancestor played a small role in disease extermination.

In the mean time, I’m very actively participating in exome testing to attempt to track and identify a fatal family mutation that has plagued one family for at least 4 generations.  Of course, we don’t yet know how successful we will be.  However, exome testing, especially at this price, holds promise that was never available before. I hope that what today is literally a life and death experiment will one day be a standard testing routine available to any family with this type of issue.  I’ll let you know the outcome in a few months.

24 thoughts on “Genos – A Medically Focused DNA Exome Test

  1. Thanks much for this rundown. People who have previously used Promethease can get an additional $50 off, and I was just looking into it. Your blog was timely! I’ve gone ahead and ordered.

  2. Here’s an e-mail that I received offering a $40 discount through a teaming arrangement with Promethease until December 12th.

    Subject: Exome Sequence Offer for Promethease Users
    As someone who has received Promethease DNA (genome) reports from us, we would like to tell you about a new DNA sequencing service and a discounted price available only for a limited time to our users.

    Over ten years ago we established SNPedia as a database of scientific literature about human DNA variants, and we created Promethease to help you learn about the variants you carry. Since then we’ve seen SNPedia’s content double almost every year, and Promethease’s interface has improved to enable better searching, filtering and exporting options. If you haven’t seen us lately, here’s a typical report: http://files.snpedia.com/reports/promethease_data/Genos_example1_ui2.html

    Regardless of the growth in SNPedia, a Promethease report can only say something about the variants listed in a person’s “raw” DNA data file. Most users have DNA data generated using microarray platforms (DNA chips), and typically that means only a minority of the interesting DNA variants were actually tested.

    We’re pleased to announce that a new company, Genos, is now producing a reasonably-priced sequence-based genome service that tests the majority of the DNA variants in all of your genes, and they have worked with us to ensure Promethease compatibility.

    Their current price for sequencing your whole exome is $399, but until Dec. 12, as a Promethease user you can purchase as many as you like for $359 (a $40 discount), and for each exome we will run a new Promethease report at no charge. To get this discount, you must use URL:

    https://www.genosresearch.com/?cid=prom-100-email-GI&pid=prom

  3. Good information
    One day I will do it.It’s important for every family that need to know about a dieses or disorder that it suffer from it for generations.
    This article one of the most important subjects you wrote about DNA.Thanks

  4. Roberta,
    Did you compare this report with what you got with Promethease using your 23andMe data? I know they are testing more mutations, but apart from a graphically more appealing report, it seem that there is no really added value as the most important diseases were already addressed.
    For Canadian readers, if there is a genetic disease running in your family, I am told that genetic testing is available free of charge through your family doctor.

    • No, I didn’t compare. The format is quite different and I don’t really think it would be very easy to do an apples and apples comparison. It might be quite interesting to compare the exome results in Promethease to the results of the other testing companies there.

  5. Roberta, are you familiar with Promethease.com ? It isn’t as exhaustive as the $$$ one you documented in this blogpost, but it’s only $5. I got a TON of medical info just by posting my Ancestry test results on Promethease. It’s based on a database of medical studies.

    • Exome testing tests a lot more locations than the 3 major testing companies today. I’ve used Promethease and written about the company. Certainly worth doing, but this testing goes beyond what Promethease can offer through the other testing companies.

  6. As a medical Practitioner I would support this kind of research if it would help patients, but I absolutely would resist the idea that this kind of information get used to load life-insurance, or to exclude employment oppurtunities or to exclude or load premiums of people for medical care or medical insurance, It should be illegal for these firms to insist on testing for their benefit.

    • Life insurance companies have required blood tests for years. I don’t know exactly what they test for today, but given that their goal is to “beat the odds” relative to a client passing away, DNA testing would not surprise me once the price is no longer prohibitive. We do have the GINA legislation in the health insurance industry today to protect individuals from discrimination.

      • I find the concept of life insurance, except for accidental death, totally baffling. In any case, at the moment, do they not ask at what age and from what your parents died? Knowing how much money they make, I am sure that if a parent died early from cancer, they assign you a very high risk, even if your lifestyle is different. If anything, testing should reduce the risk. As a consumer, if I were to provide a DNA test, I would demand a reduction in premium if the outlook is positive. To me, a better alternative is to invest your money instead of giving it to insurance companies!

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  8. I see that FTDNA is now offering a “Vitagene” test on nutrition, exercise, etc. Any info on this? It’s interesting and not too expensive, but I’m just wondering how accurate it is? How much info are they basing it on?

  9. Pingback: The Day My Ancestors (and Chocolate) Tried to Kill Me | DNAeXplained – Genetic Genealogy

  10. Thank you for your article!
    But how useful is whole exome sequencing for genetic genealogical research? What do you think?
    GEDmatch started with new Genesis algorithm and accept exome sequencing results, but is it worth it? Probably Whole Genome sequencing has more potential… (I’ve got WGS for around 400 euro at 30x coverage).
    With both WES and WGS we have a challenge to work with enormous datasets and databases.

  11. Pingback: Promethease 2017 | DNAeXplained – Genetic Genealogy

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