Good News About Health Reports

The U.S. Food and Drug Administration granted 23andMe authorization to offer ten genetic health risk 23andMe_Logo_blogreports including late-onset Alzheimer’s disease, Parkinson’s disease, celiac disease, and a condition associated with harmful blood clots.

For several years, 23andMe has worked on demonstrating that its reports are easy to understand and analytically valid in order to meet FDA requirements. The decision this week provides a clear pathway for submitting additional genetic health risk reports for the FDA’s consideration.

“The FDA has embraced innovation and has empowered people by authorizing direct access to this information,” said 23andMe co-founder and CEO Anne Wojcicki. “It is a significant step forward for 23andMe and for the adoption of personal genetics.”

Authorized Genetic Health Risk Reports

Alpha-1 Antitrypsin Deficiency (AATD)
AATD deficiency is a genetic condition that can lead to lung and liver disease. It is caused by decreased levels of the alpha-1 antitrypsin (AAT) enzyme.

Celiac Disease
Celiac disease is a condition that is characterized by bloating, diarrhea, and abdominal pain after eating gluten.

Early-Onset Primary Dystonia (DYT1/TOR1A-Related)
Early-onset primary dystonia is a rare genetic condition characterized by involuntary muscle contractions and other uncontrolled movements.

Factor XI Deficiency
Factor XI deficiency, also known as hemophilia type C, is a bleeding disorder caused by abnormally low levels of a protein called factor XI. When factor XI levels are too low, blood does not form clots properly to stop bleeding.

G6PD Deficiency
G6PD deficiency is a common genetic condition characterized by episodes of anemia. People with this condition often have no symptoms unless triggered by certain factors. This condition is particularly common in people of African origin.

Gaucher Disease
Gaucher disease is a rare genetic disorder than can affect many organs. The most common form of this condition is Gaucher disease type 1, which often leads to an enlarged liver and spleen a well as bone abnormalities. A person must have two variants in the GBA gene in order to have Gaucher disease.

Hereditary Hemochromatosis
Hereditary hemochromatosis is a genetic condition in which the body absorbs too much iron. This leads to iron overload, which can cause liver disease.

Hereditary Thrombophilia
Hereditary thrombophilia is a predisposition to developing harmful blood clots. These harmful blood clots most commonly form in the legs and can travel to the lungs.

Late-Onset Alzheimer’s Disease
Alzheimer’s disease is characterized by memory loss, cognitive decline and personality changes. This report identifies the status of a variant in the APOE gene associated with developing late-onset Alzheimer’s disease.

Parkinson’s Disease
Parkinson’s disease is characterized by problems with movement, tremor and muscle stiffness. This report includes two genetic variants associated with a risk factor for Parkinson’s disease.

 

The decision on these reports came through the FDA’s de novo classification process. This is a regulatory pathway for first-of-its-kind medical devices that the FDA considers low to moderate risk, but have special controls to ensure safety, effectiveness and accuracy. For this authorization, 23andMe conducted extensive validation studies for accuracy and user comprehension that met FDA standards.

23andMe is now the only company authorized by the FDA to provide personal genetic health risk reports without a prescription. These reports provide individuals with information about genetic variants that could increase their personal risk for certain diseases.

The company will release its first set of new genetic health risk reports including late-onset Alzheimer’s disease, Parkinson’s disease, hereditary thrombophilia, alpha-1 antitrypsin deficiency, and a new carrier status report for Gaucher’s disease in April, with additional reports to follow. New 23andMe Health + Ancestry customers in the U.S. will have access to these reports. Current 23andMe customers will be notified directly on their eligibility for receiving the new genetic health risk reports.

In addition to the authorization, the FDA indicated it will create something called a “Class II exemption” for 23andMe’s substantially equivalent reports. This opens a pathway for 23andMe to release additional genetic health risk reports that meet this “substantially equivalent” designation.

Prior to this most recent authorization, the FDA authorized  23andMe in February of 2015 to market the first direct-to-consumer genetic test for Bloom Syndrome under the de novo pathway. This in turn enabled the company to bring back more than 35 carrier status reports which identify inherited recessive variants.

Genetic health risk reports, by contrast, convey personal health risk, necessitating a separate FDA review classification pathway. In its decision this week, the FDA specifically authorized 23andMe to market genetic health risk reports through the de novo classification pathway including: alpha-1 antitrypsin deficiency (AATD), celiac disease, G6PD deficiency, hereditary thrombophilia which is associated with blood clotting, early-onset primary dystonia, hereditary hemochromatosis, which is associated with iron overload in the blood, among other reports.


Answers to some of your questions:

Does this mean 23andMe will bring back all the health reports they previously offered to customers?
We will continue to work with the FDA to offer additional genetic health risk reports to our customers — we can’t speculate on specific new reports or the timing of those reports.

What is a ‘genetic health risk’ report?
A genetic health risk report offers customers the opportunity to see whether they have genetic variants that increase their chances of developing certain health conditions. Not everyone with a risk variant will develop the health condition. And for most of these conditions, not having a genetic variant does not eliminate the risk of the health condition.

What does it mean to be granted a de novo authorization?
The Food and Drug Administration Modernization Act of 1997 (FDAMA) added the de novo classification option, which provides an alternate pathway to classify novel devices of low to moderate risk. The de novo process is used by the FDA to grant marketing authorization for devices that are new and unlike any other on the market. In addition de novo marketing authorization means that 23andMe met the FDA’s premarket requirements to demonstrate the following: accuracy, validity and user comprehension.

When will you be getting clearance for the other health reports?
We do not know, but we will continue to work in close collaboration with the FDA, on additional submissions for other genetic health reports.  

Will this speed up the process for authorization of other reports?
23andMe has now established a regulatory pathway with FDA and designed and validated its products to meet those standards.






  • Joyce Stillman-myers

    Can’t wait for more info. 23 and Me deserves all the accolades they get!

  • ElleJae

    “Current 23andMe customers will be notified directly on their eligibility for receiving the new genetic health risk reports.”
    Why would I not be eligible to receive the reports?

    • 23blog

      We have customers who are either in different geographic regions or who are on different versions of our genotyping chip.

  • Jorbear

    Looking forward to the AATD report. Both of my parents have had COPD.

  • 23blog

    Yes.

  • 23blog

    Although we test several SNPs in the MTHFR gene, we do not have a report centered on MTHFR. We will have a report on Genetic risk for Alzheimer’s.

  • 23blog

    If you are an ancestry only customer, you’ll get an email on how you can upgrade to health and ancestry.

  • 23blog

    We will have a report on Alzheimer’s. Customers should be receiving an emailing how the news impacts them and what steps they would need to take to access these reports.

  • 23blog

    Lilsy,
    You can set your account for what if any information you wish to share.

  • 23blog

    Currently the price is $199. You can find out more on our website. 23andMe.com

  • 23blog

    Hi Nicholas,
    No. Canadian customers currently receive health related results. That said the work that was done on these reports will inform how we report health information in reports to Canadian customers.

  • 23blog

    Hi Beth,
    Here is a link to our press release. The release includes the list of conditions and the variants used in making the reports.
    https://mediacenter.23andme.com/blog/23andme-inc-granted-first-fda-authorization-to-market-direct-to-consumer-genetic-health-risk-reports/

  • 23blog

    Clint,
    New 23andMe Health + Ancestry Service customers in the U.S. will have access to genetic health risk reports when they become available. Current 23andMe customers will be notified directly on their eligibility for receiving these reports.

  • 23blog

    New 23andMe Health + Ancestry Service customers in the U.S. will have access to genetic health risk reports when they become available. Current 23andMe customers will be notified directly on their eligibility for receiving these reports.

  • 23blog

    Hi Judy,
    You’ll be getting an email in the coming days.

  • 23blog

    Hi Adam,
    Customers can see the SNPs we test for by looking at their raw data. In addition each report we do includes a scientific details section that lists the SNPs used to inform the report. For these reports the list of variants that are part of the DEN, which is here:
    https://www.fda.gov/aboutfda/centersoffices/officeofmedicalproductsandtobacco/cdrh/cdrhtransparency/ucm232269.htm

  • 23blog

    See the answer to your previous comment. As for your second question, we haven’t deleted a comment from you.

  • 23blog

    Hi Adam,
    You can see how the FDA evaluated our methods for variant classification and look through their DEN for more details. I included a link to that document in another response to a previous comment of yours.
    We are also pretty transparent about our methods and have published on them.
    You can look at some of the papers here: https://www.23andme.com/publications/for-scientists/

  • Charles Dix

    How can I determine if I wil receive this report ? Thank you.

    • 23blog

      Hi Charles,
      All customers will be getting an email letting them know about their eligibility for receiving these reports.

  • cecilia sol

    I’ve had my DNA analyzed last year, will I receive these reports?

    • 23blog

      Hi Cecilia,
      The answer to your question depends on where you are — if you are in the US or not — and whether you purchased an ancestry only or the ancestry and health service. Customers will be receiving an email regarding how this decision impacts them.

  • Leslie Cooper

    I signed up for health and ancestry reports at least 4 or more years ago, but after the deal with the FDA, the bulk of those health reports disappeared, and I didn’t print them beforehand. Will these reports be available again? Will I have to pay for them again?

  • 23blog

    Lois,
    You should be able to sign onto your account to see the progress of your sample. If you sent in your sample more than two months ago, your results should be ready by now. You should look through your spam folder in your email to see if the email from 23andMe about your results was some how filtered into a junk email folder. If you cannot find that or have trouble signing into your account please contact our customer care team here: https://customercare.23andme.com/hc/en-us/requests/new

  • 23blog

    There are two options: Ancestry only and Health and Ancestry. The $149 option was a limited time offer.

  • 23blog

    Robbie,
    Customers in Canada and the UK do receive genetic health risk reports, as do customers in Denmark, Finland, Netherlands, Sweden and Ireland. Although we ship to 50 countries the types of reports we can offer customers vary based on the rules in those geographies.

  • 23blog

    Hi Jeanette,
    You may have to, but it depends, but customers will be getting an email notifying them of their eligibility. Also if you are an existing customer, but you bio-banked your sample you won’t have to spit again.

  • 23blog

    If you just purchased and you purchased the health and ancestry service you are eligible for the new reports when they become available.

  • 23blog

    It depends on when you purchased, but you will receive an email notifying you of your eligibility.

  • 23blog

    Hi Mike,
    You will get an email notifying you or your eligibility.

  • 23blog

    Hi Gilbert,
    We have approval for 10 specific reports, and a pathway for additional reports. What those reports will be I don’t know.

  • 23blog

    You should be getting an email in the coming days.

    • Clint e

      No email yet?

      Clint

  • 23blog

    Current customers will be receiving an email in the coming days notifying them about their eligibility for the new reports. That will include information regarding whether they need to purchase an upgrade or not.

  • 23blog

    If you are a health and ancestry customer, who just purchased and thus in on the most recent genotyping chip, yes you are eligible.

    • Sue Pantoja

      How can I tell which chip I had?

      • 23blog

        Hi Sue,
        You’ll be getting on email from 23andMe in the coming days regarding your eligibility and that is the best way to figure out which version of the chip you are on, but in general if you tested after 2013 you are on the latest version of the chip known as V4.

  • 23blog

    Hi Cynthia,
    Nothing on the immediate horizon regarding these two conditions. Although we now have a regulatory pathway we do not know yet what conditions we will be pursuing in the future.

  • 23blog

    Hi Melissa,
    Thanks for the note. I’ll pass it along.

  • 23blog

    It sounds like you purchased recently the health and ancestry service and are thus on the most recent version of our genotyping chip. If that is the case, you will not have to upgrade or retest.

  • 23blog

    Wolf cat,
    Customers will be getting an email notifying them of their eligibility. As for what was approved, hopefully you understand that this is a regulatory process. The approval gives 23andMe a pathway to add future reports, but we do not yet know what those reports will be.

  • 23blog

    We do not know what reports will be offered in the future. That depends on many things, including FDA authorization.

  • 23blog

    Jim,
    In the coming days customers will be receiving an email from 23andMe notifying them of their eligibility.

  • Tim Reese

    I got my results 2 months ago without the Health Report.
    How can I get the Health Report?
    Thanks

    • 23blog

      Tim,
      All customers will receive an email in the coming days about their eligibility for these new reports.

  • 23blog

    We currently have reports on sleep movement and deep sleep. At the moment we do not have any immediate plans for reports on narcolepsy.

  • 23blog

    You should receive something in the coming days.

  • 23blog

    You should be getting an email on your eligibility in the coming days.

  • 23blog

    Hi Ridsel,
    Our product offers differ based on the rules and regulations within different jurisdictions. Although our reports and offerings are all informed by the same science, the type of reports we offer in these different markets is not always the same. It’s good to hear that you’ve spoken to the Minister of Health in New Zealand. I’ll pass that information on to our International Team.

  • 23blog

    Hi Russell,
    I’m so sorry to hear about your daughter’s illness.
    I did want to make clear that 23andMe does not diagnose illness. Our Genetic Health Risk Reports tell you about genetic variants associated with increased risks for certain health conditions. Right now we’ve received authorization for 10 reports, and will soon offer four of those reports. We do not have immediate plans for a report on MS.

  • 23blog

    Olin,
    If you had access to the old health reports, you can still see that information in your report archives. Here is a link to the steps to take to access those reports: https://customercare.23andme.com/hc/en-us/articles/219163167-How-to-access-and-share-the-reports-in-your-Reports-Archive

    • Dianne Nixon

      I’m a long time customer and have reports that are archived. Will there be new information added to the old reports. I’m curious as I have the APOE gene associated with Alzheimer’s.

      • 23blog

        Hi Dianne,
        Thanks for the note. As a long time customer you have access to your archived report on Alzheimer’s. It’s probably not necessary for you to get a new report. The new Genetic Health Risk Report on Alzheimer’s looks at whether you are a carrier of these same variants but the information is presented in a different way. What is new is the way in which this information is presented. Once the reports come out you we will have examples of the reports online and you can look at what kind of information is presented and how it’s presented.

  • 23blog

    Hi Rachel,
    Sorry for the delay in responding. I’ve forwarded your question to our customer care team and they should have, or will soon, respond directly to you. But the answer to your question is that yes you opt out of this information. Current health and ancestry customers like you can choose to opt out, but in doing so they will also loose access to other health reports like those on carrier status. If you change your mind you can go back and opt back in. Finally for two of the new Genetic Health Risk Reports — Alzheimer’s and Parkinson’s — the reports are locked. That means there is an extra step required to unlock those results to ensure that customers are informed of what the reports will be telling them. You can keep those reports locked if you wish but still see the other genetic health risks. Hope that answers your questions.

  • Umberto Tachinardi

    I just got my reports and none of those health reports. Are they coming?

    • 23blog

      Hello Umberto,
      Customers will be getting an email shortly informing them of their eligibility to receive the reports.

  • 23blog

    Hi Hollisterbulldawg,
    You should be able to access them now.

  • kevinmkr

    Hmmm…I submitted a comment that was questioning 23andMe’s commitment to their current users, using their own quotes and absolutely zero inflammatory comments, and they removed it. There are other social media outlets. You know that, right?

  • 23blog

    Hello Kevin,
    We do appreciate our customers, particularly those who were early adopters. We apologize if some our answers do not have the specifics you want, but in some cases, specifically around timing, we do not yet know have those answers. As it is now the majority of existing US customers who purchased the health and ancestry 23andMe service after November 22, 2013 are eligible to receive the new Genetic Health Risk reports. For those who purchased before that November 22, 2013 they will have to upgrade, but at this time, updating genotyping chips is not available. This is because we are reviewing our policy surrounding updating genotyping chips. Additional information will be made available in the coming months. If you have questions that are specific to your account someone from our Customer Care team can help you out. You can contact them here: https://customercare.23andme.com/hc/en-us/requests/new

    • kevinmkr

      Respectfully, this is exactly the type of response that I (and others) have been receiving for a very long time.

      “Additional information will be made available in the coming months.”

      I most recently got that message 4 months ago.

      Nothing concrete. Nothing new. Just hang tight and wait a little longer! (wash rinse repeat)

      This is the source of my frustration and I’m sure I’m not alone.
      I have no idea how much support you’ve lost from others based on how long this has dragged on. But until you do something definitive for your decreasingly patient v3 (and lower) users, you’re going to continue angering people who would have otherwise been your best salespeople and allies. When people asked me 3 years ago how I felt about 23andme, it turned into a sale for you. Multiple sales. Now, when people ask, it may very well turn into a sale for your competition. I’m not being spiteful. I’m not being vindictive. I am a 23andme user! I only want it to work and to work uniformly. I would like nothing more than to be able to recommend the product that I use! A happy user is your most powerful promotional tool!

      The remedy is simple. Send out an email right now telling all of us that it will be a free upgrade…….in August. Or, tell us that it will be a one-time $49 fee and we’ll be able to upgrade on May 15th. Tell us something other than “we’re reviewing our policy….wait another couple of months” because that line has gotten woefully stale. It shouldn’t take years to review a policy.

      Lastly, tell us that this will never happen again.

      Is that something that 23andme can prioritize for the sake of their long-term users?

      • 23blog

        Kevinmkr,
        We are emailing customers individually. You will also get an email and it should answer your questions about timing and costs. I’m sorry but there is not one answer that applies to everyone because not all of our customers are on the same genotyping chip. Not all of them purchased the same level of service and not all of our customers are in the United States.

  • Michael Kewl

    Up Helly Aa!!!

Return to top