Do elite ‘power sport’ athletes have a genetic advantage?

A “functional polymorphism” of the angiotensiogen (AGT) gene is two to three times more common in elite power athletes, compared to nonathletes or even elite endurance athletes, according to the new research by Paweł Cięszczyk, PhD, of University of Szczecin, Poland, and colleagues. They write, “he M23T variant in the AGT may be one of the genetic markers to investigate when an assessment of predisposition to power sports is made.”

Gene Variant More Common in Elite Power Athletes

The researchers analyzed DNA samples from two groups of elite Polish athletes: 100 power-oriented athletes, from sports such as power-lifting, short-distance runners, and jumpers; and 123 endurance athletes, such as long-distance runners and swimmers and rowers. All athletes competed at the international level — eg, World and European Championships, World Cups, or Olympic Games. A group of 344 nonathletes were studied for comparison.

The analysis focused on the genotype of the M235T polymorphism of the gene AGT. “Polymorphisms” are genes that can appear in two different forms (alleles). A previous study found that the “C” allele of the AGT gene (as opposed to the “T” allele) was more frequent among elite athletes in power sports.

The genetic tests found that elite power athletes were more likely to have two copies of the C allele — in other words, they inherited the C allele from both parents. This “CC” genotype was found 40 percent of the power athletes, compared to 13 percent of endurance athletes and 18 percent of nonathletes.

Power athletes were three times more likely to have the CC genotype compared to endurance athletes, and twice as likely compared to nonathletes. At least one copy of the C allele was present in 55.5 percent of power athletes, compared to about 40 percent of endurance athletes and nonathletes.

But Functional Significance Not Yet Clear

In a further analysis, the researchers found no differences in genotype between “top-elite” athletes who had won medals in international-level competition, compared to elite-level athletes who were not medalists.

The new study is the first to replicate previous, independent research showing an increased rate of the CC genotype of the AGT gene among power athletes on Spanish national teams. That study also found about a 40 percent prevalence of the CC genotype among elite power athletes.

The AGT gene is part of the renin-angiotensin system, which plays essential roles in regulating blood pressure, body salt, and fluid balance. There are several possible ways in which the CC genotype might predispose to improved power and strength capacity — including increased production of angiotensin II, which is crucial for muscle performance. However, the researchers emphasize that the “functional consequences” of the M235T polymorphism remain to be determined.

The study contributes to the rapidly evolving body of research on genetic factors related to exercise, fitness, and performance — which may one day have implications for identification and training of potential elite-level athletes. Dr Cięszczyk and coauthors conclude, “Identifying genetic characteristics related to athletic excellence or individual predisposition to types of sports with different demands (power or endurance oriented) or even sport specialty may be decisive in recognizing athletic talent and probably will allow for greater specificity in steering of sports training programs.”

Is the speed gene the key to athletic performance? The answer is only a spit away

By Katherine Lawless on Wed, Jun 19, 2019 @ 13:06 PM

It is widely accepted that genetic factors are strongly linked with athletic performance. After receiving my own 23andMe wellness results, I learned that I was a carrier of the speed gene– α-Actinin-3 (ACTN3) R577X polymorphism — which is known to be common in elite power athletes. According to 23andMe, at national and international levels of athletic competitions, this gene seems to make a difference when it comes to athletes’ success.

What is the “speed gene”?

The ACTN3 gene is only carried by a small portion of the population – in Europe, only 18% 2. The gene regulates the ACTN3 protein, which is produced in fast-twitch muscle fibers. ACTN3 protein deficiency results in a lower proportion of fast-twitch muscle fibers (more slow-twitch muscle fibers) which is associated with endurance athletes. ACTN3 protein efficiency results in a higher proportion of fast-twitch muscle fibers, which allows fast muscle contractions for sprinting and high muscle strength..2 3

The most common polymorphism of the ACTN3 gene is R577X, a C-to-T base substitution of an arginine base (R) to a premature stop codon (X). In this blog we will focus more on the extremes of the gene: RR genotype (R allele) and the XX genotype (XX allele).1 2

Each genotype of the speed gene has a different role and association when it comes to muscle composition. The XX genotype contains a full ACTN3 protein deficiency and the RR genotype has ACTN3 protein efficiency. Both have significant differences when you compare power performance, muscle injury, and flexibility.

Power performance

Those who carry the ACTN3 gene are not all professional athletes, I know for certain that I am not. However, for carriers who are involved in professional sports, it can make quite a difference when it comes to their performance.3

A study by Heffernan A.M et al. was conducted on rugby players from the Rugby Union (RU) in the United Kingdom. They collected Oragene·DNA saliva samples from RU athletes and controls and divided the athletes into subgroups representing their respective roles in rugby: forwards and backs. They wanted to see if each subgroup differed in ACTN3 genotype and how that affected their performance.4

  • The players who play the back position had a higher proportion of the R allele; backs are known for their speed generation.
  • The players in the forward position had a higher proportion of the XX allele; forwards are known for their sustained endurance activity.

Muscle injury

Muscle injury is a concern for every professional athlete. Interestingly, different ACTN3 genotypes can indicate whether you are more prone to muscle injury.

R allele carriers are known to have greater levels of muscle mass (specifically type-II fibers) indicating strong capabilities to sprint at great speeds like the backs in rugby. 3,4 Since R allele carriers have strong speed capabilities one would think they’d be more prone to muscle injury, however, it is quite the opposite. X allele carriers who have strong endurance capabilities are more likely to have muscle injury.3

  • Kim J.H et al (2014) performed a study with a cohort of Korean ballerinas regarding ankle sprains. They found that the R allele was under-represented, and that those who carried the XX allele had more ankle injuries.
  • Massidda M et al (2017) found that the XX allele carries were 2.6 times more likely to suffer an injury than the R allele carriers in football players. These injuries were even more likely to be of increased severity.

Flexibility

Flexibility is an important aspect of performance and is crucial for specific sports such as gymnastics, divers, dancers, etc. Kikuchi N et al. conducted a study to determine the trunk flexibility of athletes who carry different alleles of the ACTN3 gene. Their goal was to determine which allele provides the best flexibility by collecting Oragene·DNA saliva samples from two fitness cohorts.1 They discovered:

Trunk flexibility of the R allele group was significantly lower than the XX allele group. Individuals with XX alleles have a higher trunk flexibility. Flexibility is very important for cardiovascular health and can lower the risk of developing a number of diseases. The XX allele is considered to have a survival advantage to humans, due to its full ACTN3 protein deficiency, allowing for increased muscle flexibility than the average human.1

If you are a carrier of the speed gene, no matter which genotype you carry, you have an athletic advantage in one way or another. Do you carry the ACNT3 gene and if so, how do you use your athletic ability? Leave a comment below.

Oragene self-collection kits were used in the above research studies. If you are interested in trying Oragene saliva collection kits for your own project, click on the free kits request button or email [email protected]

23andMe report:

Pickering C et al. ACTN3: More than just a gene for speed. Front Physiol. 8:1080 (2017).

Kim J.H et al. Genetic associations of body composition, flexibility and injury risk with ACE, ACTN3 and COL5A1 polymorphisms in Korean ballerinas. Nutrition Biochem. 18:205-214 (2014).

Massidda M et al. ACTN3 R577X polymorphism is associated with the incidence and severity of injuries in professional football players. Clin. J Sport Med. (2017).

My ‘tailored’ DNA profile said to eat vegetables, avoid fast food

NEW YORK — Avoid fast food, eat vegetables and exercise. It sounds like generic health advice, but they’re tips supposedly tailored to my DNA profile.

The suggestions come from 23andme, one of the companies offering to point you toward the optimal eating and exercise habits for your genetics. As with most dieting schemes, the idea is appealing because it implies there’s an elusive reason why you can’t get in shape — in this case, your genes.

But Isaac Kohane, a biomedical researcher at Harvard, said research in the field is still limited and that there’s little evidence any small effects from genetic variations can be translated into meaningful dietary advice.

“By and large, these are not giving a lot of value to the people who are purchasing them,” he said, adding that other factors play a far bigger role on health, such as how much we eat.

Still, it’s tempting to think your DNA holds clues to your ideal diet. To see what my genes might reveal, I tried two services, 23andMe and DNAFit.

23andMe

If you pay $99 for a 23andMe ancestry report, you can spend $125 more for its health reports based on the same saliva sample.

Among the extras you get are several wellness reports, including one that predicts your “genetic weight” and offers other dietary insights. These findings are based on comparisons to data from other 23andMe customers.

After adjusting the default setting from European to East Asian descent, my report said I’m predisposed to weigh “about average.” For a 40-year-old, 5-foot-6 woman, the company defined average as 138 pounds. 23andMe notes that most of its customers are of European descent and that its data for other ethnicities is more limited.

The report then lists 10 habits associated with healthy weights for your DNA profile. For me, that included limiting red meat, avoiding fast food and exercising at least twice a week. Given how formulaic that sounded, I wondered how much results vary for others.

It turns out everyone gets the same 10 habits since those are the ones 23andMe decided to survey people about. But the order in which they’re listed varies to indicate the magnitude of their supposed effect for you. Alisa Lehman, a senior product scientist for 23andMe, said the top two habits for most people are limiting red meat and avoiding fast food, as they were for me.

Like many other nutrition studies, the findings do not establish cause-and-effect relationships but are links the company makes between customers’ genes and the survey results.

Other wellness reports said I’m more likely to be lactose intolerant (check), to flush when drinking alcohol (check) and to consume less caffeine (check). They were more interesting because of their specificity but didn’t reveal anything surprising. Another report said my weight isn’t likely to be affected by my intake of saturated fat, which is commonly found in meat.

The only surprise was learning I have a genetic variant “common in elite power athletes.” When I followed the link, however, I saw about half of customers have the same variant.

DNAFit

For $99.99, you get a saliva collection to produce reports on a variety of fitness and dietary traits. If you already have your DNA file from 23andMe, you can upload it to get instant results for $79.

DNAFit says its reports are based on the broader universe of scientific research about genes and diet.

Given the general fear of carbs among many dieters, I started with the “carbohydrate sensitivity” report. It started with an overview explaining the difference between complex carbs like brown rice and refined carbs like sugar that are digested more quickly.

After scrolling down, the report said I have a “very low” sensitivity, meaning I’m less susceptible than others to sugar highs and diabetes. Despite this carb tolerance, it suggested I limit refined carbs to 10 percent of daily calories. Again, this sounded like fairly generic advice and made me wonder how much the recommendations vary for others.

Andrew Steele, head of product at DNAFit, said that depending on people’s sensitivity, the recommended limit for refined carbs ranges from 6 to 10 percent of total calories. For someone who eats 2,500 calories a day, that’s a range from 150 calories to 250 calories.

While that may not seem like a big difference, DNAFit notes cutting back from 10 to 6 percent would mean a 40 percent reduction. Still, the relatively tight range reinforces the idea that dietary advice would be largely consistent regardless of your genes.

Another report said my sensitivity to saturated fat is low and suggested limiting it to 10 percent of calories. DNAFit said the range for that recommendation is also 6 to 10 percent.

Other reports were more nutrient specific. One said I have a raised need for omega-3, the cholesterol-lowering fatty acid. Another said I have a raised risk for DNA damage from chargrilled meats and should limit them. (This advice was provided over an image of candle-lit steak.)

On the fitness side, the reports said I’m more prone to endurance activities than high-intensity activities. I don’t know if I’ll take this into consideration if I start exercising. Others have questioned the accuracy of the fitness reports, which rated one Olympic runner’s aerobic potential as “medium.”

DNAFit and 23andMe say knowing your genetic predisposition can motivate you to stick with diet or exercise routines. You may also have specific reasons for wanting to try the services, particularly 23andMe, which most get for the ancestry tests and provides many other reports. But for me, the findings from both felt too broad to influence my habits.

One small note: DNAFit is based in the United Kingdom, so if you decide to try it, you may notice a small currency exchange fee on your credit card statement.

Results Of At-Home Genetic Tests For Health Can Be Hard To Interpret

“I think that it’s an unfortunate development that will likely cause considerable mischief,” Evans says.

One problem is that patients can be easily overwhelmed when results are misleading or murky. Genetic testing is still best done through doctors, he says, working with specially trained genetic counselors who can guide patients every step of the way.

“What people deserve is well-thought-out information,” Evans says. “The only people who will really benefit are the investors in these companies that market these incomplete and misleading tests.”

23andMe home testing kit Meredith Rizzo/NPR hide caption

toggle caption Meredith Rizzo/NPR

23andMe home testing kit

Meredith Rizzo/NPR

Some companies are offering newer forms of genetic testing that decipher and analyze every gene known to carry instructions for producing proteins that might reveal mutations — a process called whole exome sequencing. Still others analyze the entire genetic code, which is called whole genome sequencing, which may find additional clues to disease. They will then analyze customers’ genomes for any variations known to be associated with diseases.

The approach 23andMe takes is a rapid, but older, process. It analyzes short pieces of DNA for genetic variations known as single nucleotide variations (SNPs) associated with specific diseases.

Except for 23andMe, all of the companies still require a doctor’s order to get this testing. But an increasing number of these companies will find a physician to sign off on that for customers.

“We’re all about empowering consumers and making it as easy as possible for people to get these insights,” says Elissa Levin, director of policy and clinical services at Helix, a genetic testing company.

Dr. Louanne Hudgins, president of the American College of Medical Genetics and Genomics, says she’s “very concerned” about this.

“Individuals should be evaluated by medical professionals who are not conflicted, meaning they do not somehow work for a company,” Hudgins says. “Doctors who are contracted by companies are going to say, ‘Do the test’ no matter what, even if the test may not be indicated.”

The companies defend the practice, saying the doctors they find for customers may be better suited than the average physician.

“The majority of doctors have had maybe one class in genetics,” says Othman Laraki, CEO of Color Genomics, another genetic testing company. “I think it’s much more important to have someone who has a background in genetics than just simply have someone who you can physically meet with.”

Privacy is another concern. Genetic testing companies say they have strict policies and procedures to protect customers’ information. But some firms provide access to the genetic information they collect on an anonymous basis to drug companies and others to use for research.

Recent breaches of privacy by companies that collect information about people, such as Facebook, have underscored the risks of electronic data.

“I’m really hoping that the security practices associated with genetic information are quite strong,” says Cook-Deegan. “The companies say they’re strong. Time will tell if that’s true.”

A federal law prohibits the use of genetic information to discriminate against the people for health insurance or jobs. But that law does not protect against the use of genetic information in making decisions about other things, such as life and long-term care insurance.

“These are the types of things you really ought to consider when thinking about doing this kind of genetic testing — not whether there’s a special on the testing this week,” says Mark Rothstein, a professor of medicine and a bioethicist at the University of Louisville School of Medicine.

Results — with limitations

About a month after sending in her sample, Steyn got a notice that the results of her breast cancer test were ready.

“I’m really nervous,” she said as she read through the company’s explanation of what her results do and do not mean.

She paused in silence after she clicked to get the results.

“It says zero variants detected,” Steyn finally said, meaning the test had not found any mutations that would increase her risk.

“I guess I do feel really relieved. It does make me feel better,” she said, her voice cracking. “I guess I just feel my chances are better now, you know?”

Steyn’s results showed she didn’t have three variants that increase the risk for breast cancer. Critics say that these kits don’t address thousands of other variants associated with the disease. Courtesy of Rita Steyn hide caption

toggle caption Courtesy of Rita Steyn

Steyn’s results showed she didn’t have three variants that increase the risk for breast cancer. Critics say that these kits don’t address thousands of other variants associated with the disease.

Courtesy of Rita Steyn

Critics worry the testing is misleading — and relying on it could be dangerous. It tests for only three mutations in two genes known as BRCA1 and BRCA2 that can increase the risk for breast and ovarian cancer. Women could still have one of the thousands of other mutations that increase the risk, or be at risk for other, nongenetic reasons.

The concern is that if a woman’s 23andMe test shows she’s free of the risky mutations, she may think she’s in the clear and not do things she should do, such as get regular mammograms or undergo more thorough genetic testing.

“To be very blunt, I worry that women who undertake testing from 23andMe could believe that they do not carry a mutation when in fact they do, and as a consequence could die of breast or ovarian cancer,” says Mary-Claire King, a University of Washington geneticist who helped identify the breast cancer genes. “I do not want to see that happen.”

The company argues that it makes the test’s limitations very clear and encourages women to talk to their doctor about the results and possibly seek more extensive genetic testing.

For women who discover they have one of the risky gene variants, the information could be crucial, according to Stacey Detweiller, a medical affairs associate and genetic counselor at 23andMe.

“Our mission is helping people access, understand and benefit from the human genome,” Detweiller says. “There’s steps that can be taken from knowing this information that could be life-saving.”

Steyn and the two other women NPR followed through the process of taking the test seemed to understand the test’s limitations. They said they knew they couldn’t rely on it, but they were curious to see the results.

But Steyn admits that she felt somewhat less urgency to get a mammogram or additional testing because of the 23andMe test results, especially since she doesn’t have health insurance at the moment.

“I’m glad I did it, especially in light of the fact that I find myself in a position where I do have to wait to see a doctor now because of the insurance situation I find myself in,” Steyn says. “Now I feel a little bit better about waiting. Beforehand, I probably would have not waited and figure out a way to afford this.”

Editor’s note, June 20, 2018: A sidebar has been added to this story to highlight information that could help women decide if they want to try genetic testing for breast cancer risk.

What is 23andMe? It is a personal genetic services organization which offers two primary services. You can purchase an ancestry kit that looks at your familial history through the lens of genetics or you can add a health element to the test that will look for markers that could indicate your risk of disease.

You can receive access to over 125 personalized reports that give you information about your genetic traits, overall health, and much more.

Getting this information follows a simple process. Once you receive the kit from 23andMe, all you need to do is provide a sample of your saliva from home. Then you would mail the product back to the lab in the same kit thanks to the prepaid postage. In roughly 8 weeks or less, you will receive an email from the company that let you know that all of your reports are ready through your online account.

Then just login to discover what your DNA says about you.

If you’re thinking about using a service like this to discover more information on your ancestry or health, then these are the pros and cons of 23andMe to consider.

List of the Pros of 23andMe

1. It has the most accurate ethnicity estimates that are available today.
23andMe offers consumers an autosomal test which includes the basic mitochondrial and Y-chromosome haplogroup information without an additional charge. Out of the five companies which currently provide similar services for DNA testing, this provider offers the most accurate ethnicity estimates thanks to the structure of this kit. You can rely on the data provided more often than you can with the other options.

The current process used by 23andMe tests 570,000 genetic markers across 31 population groups from over 150 different regions in the world.

2. It is the only company providing trait and medical reports.
23andMe is the only organization of its size to offer access to both the trait and medical DNA reports. Although this information is not generally useful for genealogy research, it can be fun to know what your family history is for future planning needs. This information can make it possible for you to discover if you are a carrier for a serious disease so that you can minimize potential risks for your offspring. You could discover that you might have a chance to pass along something like cystic fibrosis.

3. It does not require a subscription or referral for the services.
If you want to take advantage of this DNA testing opportunity, then you don’t need to go to the doctor to receive a referral. There is no need for an additional subscription to access any ethnicity reports or matching tools either with this provider. They will leave an estimate how much Neanderthal DNA might be in your current genome. That means you can maximize the value of this investment without worrying about hidden costs like you sometimes do with the competition.

4. It allows you to find your potential genetic relatives.
One of the unique aspects of the 23andMe DNA database is that it allows you to compare the information you receive with the profiles of others who have already taken the test. That makes it possible to find unknown genetic relatives who used this kit as well. The company allows you to download your rod DNA information to look for potential matches in other companies as well.

5. It gives you access to more health information that is valuable.
23andMe became the first organization of its type to win approval from the FDA to market genetic tests for cancer directly to customers without the need for a doctor’s order. During the first quarter of 2018, the company spent nearly $30 million to promote this new product. As the medical uses of these tests are eased in the United States, more products may start being introduced thanks to the success of DNA testing.

This trend makes it easier for consumers to discover if they have an increased risk for cancer, Alzheimer’s disease, and many other health issues.

6. It offers a private messaging system to consumers.
When messages are sent within the 23andMe system, then they are automatically labeled as being private. No one on staff has access to the information you send or discuss unless your explicit consent is offered first. That means you can rest assured that all of your communications about the DNA results are kept in confidence if that’s what you want to have happen.

7. It could help with the future of medical research.
What does 23andMe expect to do with all of the data it collects from its testing kits? The company has never been shy about sharing its long-term vision for this technology. They want to use it for medical research, looking for possible genetic links to specific traits. They discovered the bright light and sneezing genetic tag as an example of this process. Through the use of brute-force matching with patterns, it becomes possible to find a genetic cause for a serious disease. That could lead the way to eventually combat you.

8. It can start the necessary discussions about early medical interventions.
Although there are not clinically actionable items that come from the 23andMe reports that you receive after sending in the testing kit, it does offer you a premise to begin a conversation with your doctor about some of its potential findings. When you discover that you come from a region where you might be a potential carrier for a disease, the you can seek out proactive treatment instead of waiting until something happens. This process could improve your quality of life, prolong it, or even save it in some instances.

List of the Cons of 23andMe

1. It puts your information into a database of other people.
23andMe currently maintains a DNA database of over 5 million people. That makes it the second-largest of its type in the world today. When you submit your saliva for analysis, then you are handing over information that can be stored indefinitely. You get information that is critical for your health or family background, but at the same time you are creating an additional identity risk for yourself. Information can always be hacked. The Experian data breach shows how devastating that could be for millions of people.

2. It takes time to generate the reports.
When you decide to use 23andMe for your DNA testing needs, then most reports are generated in 6 to 8 weeks. Some customers might receive their information sooner, while others might get the notifications later – it all depends on the speed of the delivery service and how fast the company can process the information. Although this time frame is standard for the industry right now, it is a significant disadvantage to wait for two months or more when using a product like this.

3. It doesn’t feature any family trees in the database.
When you use the DNA testing features from 23andMe, then you are able to research your genetic profile in comparison with others. All of this work must occur manually because there is no current method of genealogy involved with this service. You can still connect with relatives that have also used this kit, but it is often a hit-or-miss process. It would be much more advantageous if the organization provided some type of family tree information that you could use to join communities.

4. It doesn’t always provide accurate results.
A study published by Nature shows that up to 40% of DNA results coming from consumer genetic tests like those offered by 23andMe may provide inaccurate results that are reported to the consumer. Most of the tests use genotyping as a way to offer information about the ancestry of the individual. The variants that show up in the raw data can produce false positives, showing that something is there when it really is not. Most of these issues involve cancer-linked genes. Even third-party interpretation services can misunderstand the results when these errors occur.

5. It could create questions about data use in the future.
The reports which 23andMe generate can create helpful user profiles, but it can also develop the potential for harm. DNA information is considered to be infallible when presented in a court of law in the United States. Even though there is a 0.1% inaccuracy rating or higher promoted by testing providers, “matches” are treated as fact when developing a legal case against someone. If the information in this database were to become useful to someone else, then the potential of harm could become very great for someone. It might be possible to indicate legal responsibility through DNA transfer even though the individual did not give consent.

6. It does not provide a resource to counter human error.
DNA samples that go to a database like that of 23andMe can encounter multiple levels of human fallibility before the reports are created for the consumer. There is always the risk that the saliva is not deposited as instructed or gets contaminated during the shipping process. It is even possible for some groups to be over-represented compared to others. These issues can skew the results published on the final report, which can then cause the potential for harm to the individual because they believe something is true when it may not be at all.

7. It is a medical company first and a genetics company second.
When you send your DNA profile to 23andMe with your saliva test, then the results tend to emphasize the medical component of the data pull instead of the genealogy component. Most of the customers that use this resource are not interested in seeing what their family history happens to be. They often choose to opt out of relative matching when they fill out the paperwork with their kit. Even if they do want the information that is available, they are typically not prone to sharing it with others.

8. It comes at a higher price.
The MSRP for a single test is $99 when working with 23andMe for your genetic profiling. If you want to receive both sets of information from your saliva kit, then you must pay for both tests. That means you’re forced to fork out $200 + sales tax and platform fees to receive the reports about your health and genetic profile without a guarantee of their accuracy. You are literally paying a company to obtain and store data about your DNA because it may offer something of value to you as well.

9. It can include you in the disadvantages even if you don’t participate in the program.
You do not need to volunteer your DNA to 23andMe to experience some of the potential disadvantages which are associated with this service. Every time one of your relatives decides to send in their saliva for testing, there is a small part of your genetic makeup that gets stored in their database. If several close relatives were to send in samples, then the company would already have enough information to create a genetic profile about you as well. That information might violate your privacy, but there are no current legal standards that would stop it because everyone else provided consent.

10. It offers a cap on your relative matches.
23andMe caps the number of genetic matches that you can find in their database to 2,000. That rule applies regardless of whether your relatives opted into the program. Close matches who opt out of the DNA Relatives program can displace distance matches who do want to find more information about their genealogy. The average customers who uses the kits offered by the company typically see about 1,200 possible matches in total.

11. It does not allow you to provide raw data from another provider.
If you have already taken a DNA test with one of the other providers of this service other than 23andMe, then the raw data file you received cannot be uploaded to your profile with this company. The only way that you can get your information into their database to begin searching for answers is to purchase a test with them. Since there is the possibility of using that information for future marketing purposes, some people may find that using another service or ignoring this product altogether is a better option for their needs.

12. It does not provide results which are suitable for clinical use.
When the FDA announced that it would allow 23andMe to market and advertise directly to consumers about its genetic health risk tests for roughly 10 conditions, it was giving the company the ability to share data about the potential risks of testing and what the results may be. There is no known harm that comes from the collection and testing of saliva. The tests you receive are not validated for clinical use, which means there’s nothing you would learn about yourself from this investment that could create an actionable item for your health.

13. It can make a person’s family secrets become public.
Dani Shapiro discovered heartbreaking information when she submitted her kit for a home-based DNA kit. She discovered that her father, who died in a car accident when she was 23, was not actually her biological parent. She discovered that her parents had trouble conceiving, so a sperm donation was used.

Sisters have taken these tests together only to find out that they were only half-siblings because one of their parents had an affair. Some people have discovered they were adopted thanks to this information. There have been numerous other family secrets exposed. If you don’t want to be surprised by what could be found, then it is probably better not to take this test.

14. It may disrupt your self-identity.
Home DNA testing kits from 23andMe provide an ethnicity estimate based on your genetic profile. If you grew up thinking that you were Irish because that’s what your family said, you might be saddened to discover a report that says you are actually German. This result can create disillusionment which can be difficult to overcome for some people because it impacts their identity at a core level. Some people may find that the ethnicity portion of the test creates more questions than answers, like why there is a significant percentage of ancestry from a region in the world that no one discusses in your family.

The pros and cons of 23andMe are admittedly still in their earliest stages. We do not know enough about this technology as of yet to determine its accuracy or full potential. Continued use of the kits offered for DNA testing will help to refine the data, create a larger database, and make it possible to understand more about one’s current and future health. Can the information be liberating? Possibly. Only time will tell if the investments we are making now into this technology will create beneficial results in the future.

About the Author of this Article
Natalie Regoli is a seasoned writer, who is also our editor-in-chief. Vittana’s goal is to publish high quality content on some of the biggest issues that our world faces. If you would like to contact Natalie, then go here to send her a message.

23andMe’s full offering review

23andMe is perhaps the most recognizable name in the home DNA tests industry. The company, named after the 23 chromosome pairs in humans, essentially founded the direct-to-consumer-genetic-tests when it was opened shop some 12 years ago.

23andMe genetic testing serving clients in the USA, Canada and the UK, among others. The company boasts an astonishing number of 5m users to date. Read our comprehensive 23andMe review to learn more about what exactly is 23andMe, what the company offers, how much 23andMe cost and get our editorial opinion about them.

23andMe – Advantages and Disadvantages

If you don’t want to read through our comprehensive 2000+ word 23andme review all the way through, you are welcomed to read our simple pros and cons below:

Advantages

  • Industry veteran
  • Customers are overall content
  • Very comprehensive results
  • Very large database
  • Most diverse options

Disadvantages

  • Was disapproved by FDA for a period
  • Not the cheapest
  • A bit too versatile

Our Rating: 96.2%

✓ Best Health Results ✓ Most Diverse Test Kit ✓ Best Value for Money ✓ Top 3 – Ancestry

View Full Rating and Summary

23andMe Review’s Essential Data

Can be used for Genetic overview for health/fitness purposes, ancestry
DNA collection Saliva sample
Number of SNPs tested 630132.00
DNA sample stored? Yes
Availability Most countries
Price $200 or equivalent
Platform matching for family Yes
Geographical analysis of ancestry Yes
Special features Ancestry analysis, Neanderthal % in ancestry
Number of users 5000000.00
Ownership Privately held by various investors, particularly Anne Wojcicki, Johnson & Johnson Development Corp., The Roche Venture Fund, Google Ventures, and New Enterprise Associates
Address 899 W. Evelyn Ave., Mountain View, CA 94041
Website Address www.23andme.com and local websites: www.23andMe.ca and www.23andme.co.uk
Client reviews 3,000+ available on bazaarvoice with 4/5 rating; Under 50 reviews on Yelp with rating of 1.5/5

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Company background for 23andme

23andMe is in a unique position in the direct to customer DNA test kits being the pioneer and being significantly larger than its competitors. The company was founded in April 2006 and has been growing at a staggering pace up to 500 users.

The company has raised close to $500m in capital since its inception including a round of $250m, followed by a consecutive round of $300m, and it is projected that it is valued in close to 2.6bn dollars. The founders of 23andMe Linda Avey, Paul Cusenza, and Anne Wojcicki are still heavily involved in the company. Anne Wojcicki is the CEO and has been voted one of the top 100CEOs of Glassdoor.

Anne Wojcicki at GES 2016

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23andMe Genetic Testing and the FDA

When 23andMe and other competitors starting operating in the direct genetic testing for consumers space, there was no regulation whatsoever in this space. It was a very niche product. The average person didn’t know and/or did not care much about 23andMe results. Over the course of time, as home DNA kits were gaining popularity, the FDA started to show concerns about what howe 23andMe was marketing their disease risk tests. So, the FDA issued 23andMe a shutdown notice, telling them to stop offering their disease risk test for breast cancer because they were overmarketing the potential results.

Eventually, 23andMe altered its marketing materials and were again approved to sell disease risk tests. However, you should be aware that the FDA only regulates how companies market these tests. The BRCA test, for example, only searches for 3 SNPs (single nucleotide polymorphisms) that are typically only present within the Ashkenazi Jewish population. According to a recent study, 23andMe’s BRCA test misses other potentially dangerous mutations in 94% of people that take the test.

BRCA Risks – Do NOT Use 23andMe for that Purpose

So, a negative result simply tells you that you do not have a few specific mutations, not that you have a lowered risk of getting breast cancer in general. Further, a positive test does not mean you will absolutely get breast cancer. Both outcomes have led to negative health outcomes. For instance, some women receiving positive test results have had unnecessary mastectomies, while those receiving negative results sometimes stop getting regular cancer screenings. Neither of these is a reasonable reaction to the test results. This is an important distinction to understand, and the same is true of most disease risk analyses.

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23andMe has only two offerings, the Ancestry Service and the Health + Ancestry Service. The Ancestry Service provides only information on ancestry information, such as your geographical genomic profile. The Health and Ancestry Service provides insights into genes related to health and wellness. The details of each package are below:

Ancestry Service

The Ancestry Service includes 2 main features. The first feature is your personalized Ancestry Reports. This test includes 5 reports which detail your general Ancestry Composition, your Maternal and Paternal Haplogroups, your Neanderthal Ancestry, and Your DNA Family. The first report is based on the similarities found in your Autosomal DNA to known genotypes. Your maternal and paternal haplogroups are measured through your mtDNA and Y-DNA, respectively. If you contain any traces of Neanderthal DNA, it will be found in the fourth report. The final report details which groups of people you share DNA with.

The second main feature of the Ancestry Service is the DNA Relative Finder. This entirely optional service allows your DNA to be matched to 23andMe’s database of millions of customers. Using this service, the company finds close and distant relatives. It even allows you to connect with these relatives, if they have also opted into the program. With the Ancestry Service, you get access to your raw data which you can use with a variety of third-party companies.

The Ancestry Service is usually $99, but is currently on sale for $69. This includes a lifetime subscription to the platform. Also, if you later decide to get your Health reports, you can purchase this service later for an additional $125. We sometimes offer 23andMe discount codes or coupons. Be sure to look for those every once in a while.

Health + Ancestry Service

This service includes all of the reports detailed in the Ancestry Service (above), plus a wide variety of health and medical genetics reports. There are 4 basic categories reports fall into: Genetic Health Risk reports, Carrier Status reports, Traits reports, and Wellness reports.

The Genetic Health Risk reports contain information on genes that have been shown to increase your risk of certain diseases. While having these genes can increase your risk of some diseases, the nature of SNP testing does not allow for an accurate analysis of your overall disease risk. That being said, 23andMe does offer some of the only FDA approved tests for finding these genetic variants. There are currently 5 of these reports available, with more on the way.

The Carrier Status report shows if your genetics have markers indicating you are a carrier for certain genetic diseases. These diseases, like cystic fibrosis and sickle cell anemia, are only triggered when a person has both copies of the disease-causing gene. Though you would know if you had one of these conditions, this report will tell you which, if any, genetic variants you may carry.

The Trait report details genes you carry which relate to certain traits you have, such as male-pattern baldness and the ability to grow a unibrow. This report documents your genetics for over 25 traits. The Wellness reports include information on your genetics related to general health, such as sleep, weight, and food advice. These reports contain a variety of general healthy habits, and are tailored to your “genetic profile”.

The Health + Ancestry Service is typically $199, though it is currently on sale for $139. The service also allows you access to your raw data. Purchasing this package will save you around $50, if you purchased the Ancestry Service first, then later wanted access to the Health Reports. 23andMe coupons and discount codes are sometimes available on our website. Be sure to check it when you finish reading this 23andMe review.

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What separates between 23andMe and other companies in that regard?

The wide variety of genetic tests offered by 23andMe is largely unmatched by other testing companies. Through a 23andMe DNA test, you can receive tests on your genetic health risk factors, your carrier status for certain diseases, and even trait reports and general wellness reports. 23andMe is aiming to be the go-to service for direct-to-consumer genetic testing, however, it is not yet available worldwide.

23andMe, owned in part by Google, provides one of the most user-friendly platforms for understanding your genetic results. Through this online platform, you receive various reports about your genetics. If you purchase the Ancestry results as well as the Health package, you will have access to ancestry information as well. The platform includes many tools, including ones to connect with genetic family members and discover your geographic ancestry.

Though many genetic companies are ancestry-based, 23andMe can also review a significant number of medical and health-related traits. In their health package, they test a large number of genes related to the disease. 23andMe DNA tests are one of the only genetic tests to have FDA approval on some of the company’s tests. While this doesn’t increase the accuracy or predictive power of the tests, it does suggest that the company will not present you with false information or overplay the role of genetics in any disease.

Through their platform, you can look at your genetic health risks, carrier status for diseases like cystic fibrosis, and even traits known to be determined genetically. 23andMe results also provide a wellness report, which gives generalized advice based partially on your genetics.

Like other companies, a collection tube is sent to your house for your saliva. Spit in the tube, and send it back to the lab. Within your spit will be enough cheek cells to analyze your DNA. The laboratory receives your sample, and takes 6-8 weeks to process it and provide you with 23andMe test results.

In analyzing your DNA, 23andMe uses technology that scans your DNA for known single nucleotide polymorphisms or SNPs. Checking hundreds of thousands of these SNPs, they match your genetics with known genotypes that match yours. This allows them to approximate with great accuracy, your exact genome without actually reading the whole thing. Though your whole genome is not sequenced (every nucleotide is not read), the genes you carry can be determined by the small matching pieces.

Depending on whether you selected the Health and Ancestry package, or opted for the Ancestry package alone, you will get access to these reports once the lab has processed your DNA sample. Simple login to the online platform and view your results.

View comparison – 23andMe Vs AncestryDNA

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How it works, what will your 23andMe kit include?

Like other companies, a collection tube is sent to your house for your saliva. Spit in the tube, and send it back to the lab. Within your spit will be enough cheek cells to analyze your DNA. The laboratory receives your sample and takes 6-8 weeks to process it and provide you with 23andMe test results.

In analyzing your DNA, 23andMe uses technology that scans your DNA for known single nucleotide polymorphisms or SNPs. Checking hundreds of thousands of these SNPs, they match your genetics with known genotypes that match yours. This allows them to approximate with great accuracy, your exact genome without actually reading the whole thing. Though your whole genome is not sequenced (every nucleotide is not read), the genes you carry can be determined by the small matching pieces.

Depending on whether you selected the Health and Ancestry package, or opted for the Ancestry package alone, you will get access to these reports once the lab has processed your DNA sample. Simple login to the online platform and view your results.

Genetic Health Risk Reports

You will find a number of reports on the 23andMe platform. The first is the Genetic Health Risk Reports, which explains which genes you carry that give you an increased risk for certain diseases. These genetic risks are based on researched associations between disease and genetics. While these reports can give you a small insight into which conditions you may be more likely to contract, they are by no means a diagnosis. Many of these associations increase your risk, but not by much.

Carrier Status Reports

In addition to checking your genetic risks, the platform provides Carrier Status Reports. A carrier is a person who carries 1 disease-causing allele. However, because there are 2 alleles for each gene, a carrier also has a regular, functioning allele. This allows them to live disease-free, but they still carry the deficient allele and have the chance of passing it on to their children. There are many recessive disorders for which you can be a carrier. 23andMe tests for many of these. This report can give you a heads up about which conditions you might carry, and help you plan a family.

Polygenic Risk Reports

23andMe recently started offering Polygenic Risks Reports as a part of its service and we wrote about it in length.

Trait Reports

Your Trait Reports will include information about your genetics which influences certain traits you have. Some of these traits may seem irrelevant, but they are associations which have been researched. Many of these traits are also controlled by a single gene, such as the ability to taste the bitter chemicals in broccoli and asparagus. Though you likely already know if you have the gene, this report can inform you which of your genes help control certain traits. This is a separate report because the information is typically not medical in any way.

Wellness Reports

The set of reports you can access are Wellness Reports, which will give you insights about how your unique genetics may be affecting your overall wellbeing. These include topics like sleep, weight, and muscle composition. These reports tell you how your genetics may affect these highly variable categories, though your genetics play only a small role. For instance, your body may have a genetic propensity to store fat, but you will only get fat if you eat too much and never exercise. These reports end with generic recommendations for better health “based on your genetics”. These include things like having a good diet and exercising regularly.

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Will your data be shared?

23andMe has a whole page devoted to their privacy policies, and what they will do with your genetic data. The company does sell and distribute aggregated data. First, they strip the data of personally identifying information, then amass it together. 23andMe aggregate data is then sold and researched.

Your personal data is supposedly under your control, and the company offers many different services you can opt out of if you don’t want to share any data. Some of these features include searching for relatives on the platform, which requires you to share the information if you choose to contact a relative. You can use most features of the platform without sharing your personal information. The platform also allows you to opt out of your data being stored, if you so choose.

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Media coverage and user opinions

23andMe has expanded drastically in recent years, as has its media coverage. Articles on the company are published weekly, if not daily when there is big news. As one of the first companies to receive FDA approval for a direct-to-consumer genetic test (shortly after receiving a warning from the FDA) the company is no stranger to making headlines. Here are some of the more interesting articles about 23andMe in mainstream media:

  • Forbes – How To Grow And Scale A Culture Like 23andMe
  • Inc magazine – 23andMe knows what diseases are in your DNA. Now, they are looking for the cures
  • Business Insider – DNA-testing companies like 23andMe are selling your data
  • Science news – What genetic tests from 23andMe, Veritas and Genos really told me about my health
  • futurism – 23ANDME IS TEAMING UP WITH A PHARMA COMPANY. YOU SHOULDN’T BE SURPRISED

User acceptance:

According to their own website, their customers are satisfied with 4 of 5 stars. Most of the customers give them 5 stars, with a smaller percentage distributed between all of the other star levels. On Amazon, with 1,000+ 23andMe reviews, 23andMe is rated 3.8/5 stars (true for Dec 9, 2018). 57% of the users thought the service deserves of 5 stars, but 20% thought it deserves of 1 star rating. Users who are happy with 23andMe have mentioned the following strong points:

  1. High level of security and data protection
  2. Easy to sign up and conduct the test
  3. Best ethnic origin analysis (more accurate than other companies)
  4. Relative identification tests are available, unlike other companies
  5. Medical analysis by Promethease is really outstanding and provides a great deal of information
  6. The test can, in fact, help you solve family mysteries
  7. Comfortable pricing at $99
  8. Very understandable and diverse results
  9. Provides useful and practical medical advice (preventive measures, mainly)

Clients who gave 23andMe a low rating discussed the following aspects of the business:

  1. Sometimes, the collection tube doesn’t yield any DNA results and you have to repeat the test. If you failed twice, you cannot use the service anymore.
  2. Sometimes, there are long waiting times with little response on their behalf on the source of delay
  3. Sometimes, they request extra fees on top of what you paid (unclear in which scenario, not stated)
  4. Customer service can be slow and unhelpful
  5. Genetic mutation indications are not accurate 100% of the time
  6. Some packages/kits aren’t clear in terms of what they contain

There are also some 23andMe reviews on TrustPilot and Yelp, but they are not worth delving into because it’s only several dozen reviews in comparison to the 1,000 on Amazon.

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23andMe Review: Executive Summary
Overall

96% 96%

Summary of our findings

23andMe is a very diverse company that excels on both health and genealogy tests. 23andMe DNA tests are easy to conduct, relatively cheap, and yield a full set of results that other companies aren’t able to produce.

The company is a combination of fun facts about your genetic heritage and body, combined with very important data that could be used for more serious purposes such as identifying genetic risks to certain diseases – A 23andMe kit might be vital for you more than you think. In other words, this 23andMe review concludes that 23andMe is the “real deal” when it comes to at home DNA tests.

I caved. I succumbed to the marketing of 23andMe, sent them a vial of my saliva and in return for about $200 was given an entertaining report on my Health and Ancestry.

In clinic I find myself talking about gene therapy more and more, what with gene replacement through the Food and Drug Administration’s approval of Spark Therapeutics’
Luxturna and more potential gene treatments in development, as well as early phase trials employing gene therapy as a platform for drug delivery in wet age-related macular degeneration driven by Adverum Biotechnologies and RegenxBio.

Superficially, the most gratifying finding in my report was that my “muscle composition” was found to be “Common in elite power athletes,” although my wife thinks this might be a mistake. I also learned that I am “Likely to consume more” caffeine, and I am “More likely to be a deep sleeper.”

More relevant to my daily practice, I learned that I harbor one of the two genetic variants tested for age-related macular degeneration, the Y402H polymorphism in the CFH gene, a genetic locus consistently found to be strongly associated with the development of AMD. This may help explain my family history of AMD. But, the report also informed me that since I am heterozygous, I am “not likely at increased risk of developing AMD.” Still, this finding sheds new light on my appreciation for my own vision and that of my patients suffering with AMD.

Cumulatively, an estimated three dozen genetic loci account for more than 50 percent of an individual’s risk of developing AMD. While we as a specialty do not routinely offer genetic testing for AMD to our patients, I believe that one day we will.

As we continue to develop new pharmaceuticals and devices aimed at improving outcomes and care delivery for patients with AMD, as well detailed by Michael Klufas, MD, and Donald D’Amico, MD, on page 14, I encourage these and future programs to incorporate an exploration of the underlying genetics. We have much yet to learn.

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23andMe Muscle Composition and Times

Fatfontaine wrote:
Anyone out there check their “Muscle Composition” in 23andMe? There are three results listed –
CC (Common result for elite power athletes),
CT (Common result for elite power athletes),
TT (Uncommon result for elite power athletes)
“This report is based on a genetic marker in the ACTN3 gene. This marker controls whether muscle cells produce a protein (called alpha-actinin-3) that’s found in fast-twitch muscle fibers. While some people don’t produce this protein at all, almost all of the elite power athletes who have been studied have a genetic variant that allows them to produce the protein. This suggests that the protein may be beneficial at least at the highest levels of power-based athletic competition.”
Mine is CT.
I started running at 30 and off 20 – 50 mpw I’ve broke 3 hour marathon, mid-17s 5K, low 5s for the mile. I’m naturally a little muscular – unfortunately no idea what my sprint times or 800 times are.
Anyone else out there have done this? What are your times across the board?
What’s really gonna cook your noodle later on, is if this would have made any difference on your running, if you had never gotten it checked

Common in elite power athletes

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