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Science Reviews

Insomnia – When your genes and emotions cause havoc at nighttime

Health
20Dec '19
0

It is said that someone “suffers” from insomnia, but we do not say someone suffers from a cold, or a flue, or even cancer. New studies are showing that suffering is the correct verb to use in this context. Two studies published in 2019 found that insomnia is linked to emotional disorders. One study by (Wassing et al. 2019) found that people with insomnia have a hard time forgetting painful or shameful past experiences compared to normal sleepers who settle those emotions during sleep. By now we know that sleep helps consolidate experiences in memory, which is essential for learning new information, but sleep also helps clear away emotional distress triggered during those experiences. The study looked at MRI images of people with insomnia and found a neurobiological link between long-lasting emotional distress and hyperarousal or inability to sleep.

The second study by (Jansen et al. 2019) looked at the genes that are linked to insomnia in a large study of over one million people with insomnia from 23andMe research participants. It discovered many insomnia-risk genes which are expressed in limbic circuits and are involved in disturbed emotion processing and more specifically in depression, anxiety, attention deficit hyperactivity disorder (ADHD), and neuroticism. Among the prominent insomnia-risk genes are MEIS1, LRGUK, and BTBD9 and several genes that are expressed in the brain. MEIS1 is associated with insomnia complaints and restless legs syndrome (RLS). Although RLS is a physical disorder, a study by (Tully et al. 2019) found an association between RLS and anxiety-depression comorbidity. LRGUK was also found to be associated with type 2 diabetes and autism spectrum disorder. BTBD9 is part of a pathway that regulates circadian rhythms, it is expressed in the brain and has been associated with RLS and Tourette syndrome. 

Whether insomnia has a genetic cause or an emotional cause, the evidence is clear that emotions only exacerbate the problem. People with insomnia might ask what they can do with the new information? Understanding the problem is a first step, getting a genetic analysis done can help too, and then sharing the information with their physicians about how to modify existing treatments using that knowledge. And in this case, they may be able to do so without waiting for a new drug or without drugs.

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

Health
3Dec '19
0

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
5Nov '19
0

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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How to validate microbiome testing services now that uBiome got busted?

Uncategorized
15Oct '19
0

When science discovers new links between our health, the bacteria in our gut, what we eat, our brain functions, and our moods, people pay attention. Microbiome research has uncovered those gut-brain-axis links after the National Institutes of Health launched a five-year, $150 million research effort, which in turn gave rise to several microbiome testing and research startups who received hundreds of millions in financing, among them Finch Therapeutics, Kallyope, Second Genome, which research specific diseases, and startups such as uBiome, Viome, Thryve, DayTwo selling direct-to-consumer testing kits for disease prevention. There is also a public, not-for-profit project called American Gut, which has the lowest price for sequencing people’s microbiome at $99 but is limited in its results. Microbiome testing, like all types of genome sequencing or genomics tests, sequences the DNA (or RNA) of living organisms, bacteria and other microbes in this case.

One of these companies, uBiome, will no longer be included in that list. uBiome raised $83 million in venture capital, and was worth a whopping $600 million at the start of 2019, making the deep dive they took recently to nothing more than a liquidation valuation even more dramatic. After a series of unfortunate events of their own making, uBiome got busted for bad accounting practices, and most recently, for faulty science. It has now filed for Chapter 7 with plans to shut down. As reported by FierceBiotech, CVS stores turned down stocking their shelves with uBiome’s at-home, Explorer microbiome consumer test, after the shocking news were revealed. Two weeks ago, Business Insider reported that uBiome lost their laboratory certifications, forcing them to stop their clinical tests activities. Perhaps worse than the accounting practices are the news that the Explorer test had been tainted by using a reference sequence database that included samples from minors, infants and at least one animal and that was populated by fecal samples volunteered by employees and participants from an online fundraiser.

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Where is the Beef in a Vegan’s Microbiome Test Results?

Health
3Jun '19
0

Screenshot excerpts showing Miss Vegan’s and Q Bob’s  Viome microbiome test results

A growing list of direct-to-consumer (DTC) microbiome genetic testing services have popped up in recent years since I first tested my own microbiome sample and wrote an article in Omicshelpdesk.com about it. If you are not familiar with the microbiome or with microbiome sequencing you might want to read that article first.  Since then, hundreds of millions of dollars in financing have been invested in microbiome testing startup companies like uBiome, Viome, Finch Therapeutics, Kallyope, Second Genome, Human Longevity, Maat Pharma, Seed.

Many of these startups are focused on nutrition and making diet recommendations as that is the most obvious application when studying gut bacteria which are in fact responsible for metabolizing the food we eat, and it is also the least risky business one may attempt at this still early stage of microbiome research. They all seem to have very nice reports and user interfaces from the screenshots I looked at. The one service I looked at more attentively this time around is Viome, by accessing the reports that a vegan friend allowed me to see in the Viome web site and app, which contained the results of her microbiome test. In this article I compare her results to those of a man who runs a personal blog called Quantified Bob. In his blog, Q Bob, as I will call him here, shares his experiences quantifying everything that can be measured in his body or about him.

But before presenting that comparison, I would like to bring some attention to two important inquiries we need to pursue before choosing and paying for a DTC microbiome test in order to assess its validity: (1) We should research if the technologies and methods the company uses have been validated; and (2) We should ask if the service offers access to the raw sequence data.

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What’s Up Microbes?

Health
12Jan '17
0

AG-Nephele-side-by-side2There is no doubt that the little bugs that live inside our bodies and on our skin affect our health and well-being, even our state of mind, but what we want to know is, by studying them, can we prevent disease or even just a bad mood? And how can we monitor them on a daily basis? Will there be an app called “What’s up microbes?” that communicates with some new device that checks on those microbes and reports back what we should eat or if we should go see the doctor, or go for a run, or take it easy and relax to ensure we maintain a healthy microbial equilibrium?

A few months ago, I shipped my “gut microbiome” inside a narrow transparent tube via the US postal mail service to American Gut. My microbiome made the long trip from Miami to California stuck on a Q-tip. At the time, it seemed that the scientific research into this tiny new world of microbes had come a long way, but to my disappointment, I found out that there is still much to be learned. I found out that my microbiome had not survived the trip intact and had started to bloom, aka “grow new bacteria” during the trip.

In recent years, the microbiome has been featured prominently in the news as one of several paths to personalized medicine. Researchers from diverse fields such as psychology or nutrition or cancer, and many others, are trying to join the race to decipher it. There is great promise in its research, which is why the sector is receiving billions in funding, with major research initiatives in the US and worldwide. But as of today, the microbiome is still a mystery.

A 2014 article titled “20 Things you Didn’t Know About the Human Gut Microbiome” aptly describes the microbiome this way:

The microbiome is defined as all the bacteria, viruses, fungi, archaea, and eukaryotes that inhabit the human body. Collectively referred to as the “second human genome”, the gut microbiome in particular is now being considered a separate “organ” with distinct metabolic and immune activity. The two major areas of microbiota investigation include taxonomic diversity to identify “who” is there and functional metagenomics to figure out what they are doing. There are other human microbiome sites as well, including skin, oral, and vaginal, but the gut is the most popular and diverse neighborhood.

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In the News: Sugar Industry Manipulated Heart Studies To Shift Blame to Fat

Health
12Sep '16
0

Cross-posted in Quantified-Self

After reading this article we have to worry once again how much we really know about the food we eat and the information we can trust, when evidence keeps showing up that big industries only care about profits and blatantly disregard our health:

Sugar industry secretly paid for favorable Harvard research

The food industry’s greed is so out-of-control and unchecked, that they will bribe unethical scientists to report false health information to the public. In the US, public health is not a priority, profits are a priority. The food industry is entrenched in lobbying strongholds in the US congress and will not allow passage of any new laws and regulations that reduce their profits.

But there is hope for us. The internet is helping change this trend. Movements like Quantified Self will help us discover what really makes us feel good and stay healthy! We only need to get more people to use the Internet to get informed. And we need more people asking for affordable access to personalized health information, like genetics and routine tests, and access to affordable sensors that capture personal health and fitness data.

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

Health
24Aug '16
1

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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Fitness, Diet, Clinical, Genome, Microbiome Data, it is All Yours

Health
14Jul '16
0

gr1

There are ongoing efforts to merge your health data and have it in a central place. Other efforts involve transferring or exchanging your health data between hospitals and doctors and you look forward to not having to spend 20 minutes filling out the same paper form you filled out at another doctor’s office. Yes, that will happen, eventually. But should this central place that holds your data only serve your doctors or should the information it contains directly guide your life style and life choices? You have read that eventually, a smart computer will access your health data and make a faster, more accurate diagnosis or create a personalized treatment plan. You have read that such a system will make recommendations on your diet, your physical exercise regimen and even your social life and your career (work less, take time off). These recommendations will help you lead a happier, healthier and fuller life. It is already happening today, with apps like Fitbit and MyFitnessPal being pioneers in the field.

Today, doctors, clinics and hospitals have portions of your health data. It is spread across filing cabinets, devices, and the computers owned by these institutions. According to HIPPA regulations you can ask for that data but the data collected at a particular health provider belongs to him or her.  Now consider this: 23andme and similar institutions have your genetic data but they don’t have your doctors’ health data. uBiome has your microbiome data but nothing else. Your Fitbit or similar fitness tracker has your fitness data but they don’t have your genetic data or your medical health history. You have been recording your weight and consumed calories in applications like MyFitnessPal, but nobody but you has that data. Ultimately, you have the right to access and own all that data and share it as you seem fit.

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

Health
17Jun '16
2

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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