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23andme Archives - Omics Help Desk

Tune into your genes and find your New Year’s resolution!

Health

Are you seeing many 23andMe ads this holiday season? Have you already used 23andMe? Would you like to uncover the secrets of your genes? There are many services that can help you mine your 23andMe data to find better strategies to deal with a chronic condition—or perhaps set a New Year’s resolution! You could learn that you have a variant of a gene that increases your anxiety when drinking caffeine, and you may want to start drinking decaf from now on and discover that you feel like a million bucks. Or, you could discover you have the Elite Power Athlete Gene, and want to start training for competitive sports! Or, you could learn you have a gene that makes you more empathetic and capable of handling stress well, and you may want to show your empathy to more people, and take on that big dream project without fears!

If you have 23andMe, Ancestry, or other genetic testing data that you would like to data mine with a more in-depth analysis, this is the time to take advantage of the service offered by Promethease—free until the end of this year. Promethease is a third-party site that allows you to upload your DNA sequence data from genetic testing services and compare it directly with SNPedia. SNPedia is a wiki for human genetics that link SNPs (single nucleotide polymorphisms) to medical conditions like Alzheimer’s, heart disease, or breast cancer (e.g., the BRCA gene), and helps people gain useful knowledge about their health from peer-reviewed, scientific publications.

The Promethease platform was acquired by MyHeritage on September 07, 2019, and to promote the service, Promethease will be free until the end of the year. MyHeritage also acquired SNPedia, but they intend to maintain that as a free resource. If you used Promethease when it was a $12 service, you can try it again for free. You may find new results—as science advances it discovers new links between your genes and health conditions. That is what I found recently, when I learned my “sprinter” gene had become the “Elite Power Athlete” gene!

As mentioned in my previous article, although 23andMe does not seem to want its users to download their raw genetic data, they do allow it—so take advantage of it. Remember that you can opt out of sharing your data for research when you choose any of the genetic testing services. If you do not see the option, contact their customer support. Creating a report in Promethease is easy. You upload your data, and then you wait for an email to download the results. Your downloaded results will open in a browser. The results do not focus on a particular disease you may be interested in, but will display all possible genetically linked conditions.

If you would like a more focused report that looks at a particular disease or condition, OmicsHelpDesk.com will connect you to Data Health scientists. They will answer your questions by analyzing your report and researching the scientific literature for the latest medical discoveries linked to your data.

23andMe Genetic Data – From 2016 to Now

Health

I did my 23andMe test in July 2016, and at the time, I downloaded and did my own analysis of the SNP raw data using different methods. Yesterday, I decided to check if the raw data had changed since that time. It did. I also looked at what’s new with the reports on the web site and found some had changed too.

For example, new in the 2019 report is that “my genetic muscle composition is common in elite power athletes”. That sounds great but I wish I had known it as a child, then I would have perhaps focused on “professional sports”! Last time I checked the report they described the gene differently, as a gene that reveals whether I am a long-distance runner or a sprinter. It shows that although my gene obviously stayed the same, more information about the gene itself was revealed through new scientific studies. I think “elite power athlete” is more motivating!  

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From Genotype to Phenotype: Things you can do with your 23andMe SNP data

Health

23ANDME-fat

Those of us who are curious about the hidden secrets encoded in our genes are excited about the new biomedical technologies that give us access to this genetic information. Our genes can tell a story about who we are. Only a “partial” story because we know that our environment and life style will add to the story. A well-established model of health is represented by this equation: Genome*Exposome=Phenome. The Exposome, is the collection of things we are exposed to, our life style and it has great influence on how we feel overall. Science tells us that we can prevent health problems if we are better informed about our “genetic” health risks, Genome and Genotype information, and adapt our life style to fit our genes. The Phenome and phenotypes are the observed outcomes of the interaction between Genome and Exposome, such as an observed disease, a symptom, a physical change such as weight loss or accelerated heart rate, or a mental state like depression or joy. Doctors, therapists and trainers have been measuring our different phenotypes, and have been monitoring our exposome whenever things go wrong, but they and we have little knowledge about our genetic predisposition for certain phenotypes.

And so, we want to know. At $199, or somewhat less with a discount coupon, the price tag for 23andMe genetic testing is only accessible to few. There are other options that are similarly expensive, among them deCODEme and FamilyTreeDNA offer similar genetic testing services.  Those prices are expected to drop as more genetic testing services compete against each other and as sequencing technologies become cheaper. When that happens, more people will benefit from understanding their genes and health risks.

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The Market for Easy, Quick Blood-Testing is Ready Even if Theranos is Not

Health

Theranos test menu

The take-home lesson from the Theranos fiasco is that unlike the emergence of other technologies that many did not see coming, the market for easy DIY tests exists, is huge and is waiting. Take over-the-counter pregnancy tests, they are popular and have become the norm, because women trust that most of the time they work reliably and accurately. What we can also learn from the Theranos controversy is that even when the market is ready, there is a need to wait when a new technology is not ripe or to be more exact, when it is flawed and the errors have greater consequences. When a computer or smartphone fails to turn on, it is an annoyance, but it is not comparable to getting a false result on a medical test. A false positive, as an erroneous positive test is called in statistics, can lead to worrying, spending time and money on doctor visits, and on more tests. Technologies that involve medical diagnosis and test kits need to be evaluated thoroughly even if the market, the public and investors clamor to get it now.

According to Theranos Yelp reviews, which seem legitimate because they involve complaints, it is clear what customers were looking for: “I can’t imagine going back to the way it was before when everything had to go through a doctor’s office for a lab order” and “very easy draws, and super fast results –  through an app no less”, and avoiding the wait at medical diagnostic offices. Together with the millions in funding that Theranos got, it shows that it is only a matter of time before the flood gates of self-measurement and personal health data collection and storage open wide. When that happens, medicine as we know it today will change. This leads us to consider the reasons that propelled Theranos to become the darling of biotech investments and the reasons that blindsided Walgreens into closing a rushed deal with a company they did not vet.

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