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Matthew Iida: Why Genetic Testing Isn't For Me

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Matthew Iida: Why Genetic Testing Isn't For Me

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It really does seem like a great idea, but I don't think me

or my family would be able to handle the results if

they didn't turn out the way we would want them to. If you

are ready for life changing news, then by all means, go for it.

I have nothing against it personally and I would in a heartbeat if

I knew my results would be pleasant, but there is no way I would be

willing to take the risk. The permanent mental repercussions from learning

this info could be detrimental to me and my family. Sometimes, ignorance is

bliss.

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Victoria Nguyen: Why I Would Get Genetic Testing Done

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Victoria Nguyen: Why I Would Get Genetic Testing Done

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You should only get genetic testing done if you have a family

background of the disease because that would higher your risk

of developing the disease. By getting genetic testing done, you can

find out if you have that increased risk or not. If it turns out that

you do NOT have an increased risk, then you will be relieved and

will not have to spend your life worrying about it. If you DO have a

higher risk, then you can take preventive measures so that you will

not get the disease, which could potentially save your life. You could

adjust your life style or get surgeries. For me personally, I would take

the test because I have a family history of breast cancer, which greatly

increases my risk for getting the disease, so a genetic test would be

very beneficial in my case.

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( Update: The headline of this post was changed to remove the words "false diagnosis" since 23andMe does not provide actual diagnoses.)
In the wake of the FDA's warning letter to 23andMe to halt sales, I thought that my story might be of value for an English-speaking audience and decided to publish this file that I had lying around on my computer for several weeks. I am very much aware that 23andMe doesn't claim to make any diagnoses. My story serves to illustrate the psychological effects that a health report can nevertheless have, ultimately driving me to spend some nights trying to disprove the report in question.
I signed up for 23andme in November 2010. I sent them my saliva and received a web login to my genome in return. Or at least that's what I thought back then. Today I'm a bit more informed and know that what 23andMe really does is this: They extract some sort of gene soup from my saliva and pour it on a so called DNA microarray chip made by a company called Illumina. These chips are covered with thousands of little testing probes. A probe is made up of a lump of molecules to which the matching pieces of my DNA naturally attach. These molecules are designed in a clever way, so that they light up when a match occurs. Hundreds of thousands of chemical tests run in parallel on the chip. The result is an image that is scanned by a computer and compared to a database of so called SNPs, "snips." According to Wikipedia, these "single nucleotide polymorphisms" make up about 90% of all genetic variation in the human genome.

So when 23andMe detects a SNP variation in my genome it means that in a base pair of my DNA there's a difference from the so called "reference genome." We may recall, the nuclein bases Adenine (A), Guanine (G), Cytosine (C) and Thymine (T) are the basic building blocks of DNA code. Say I had an A>C SNP, this would mean that I had Adenosine instead of Cytosine at the corresponding DNA location. This difference doesn't necessarily have to be bad. The actual judgment is derived from statistics. For example, do all the members of a certain group of people who have the same mutation develop the same kind of symptom?

To sum it up, 23andMe compares hundreds of thousands of scanned SNPs to its database which is constantly updated in response to new scientific studies and sources. The website then shows you nicely designed, ready to ingest interpretations of your genetic variations manifesting in health risks. But you also learn about more entertaining topics like heritage (99% European, 3% Neanderthal, 0.5% Scandinavian). Every time they have new updates for "Health Risks" or "Inherited Conditions," you'll receive an email.

Everything went well for a long time. There were no special surprises. I will probably die from a mix of heart attack and prostate cancer; nothing special there.

But some weeks ago there was, suddenly, an unnerving update in my inherited conditions report. I clicked the link and a warning appeared. You have to specifically agree if you want to know the result of potentially unnerving, life changing results. I clicked OK and was forwarded to the result. It said:

Has two mutations linked to limb-girdle muscular dystrophy. A person with two of these mutations typically has limb-girdle muscular dystrophy.

I let that sink in for a moment. I had never heard of this illness before.

"Some people with limb-girdle muscular dystrophy lose the ability to walk and suffer from serious disability," said the page, showing me an image of a smiling physical therapist treating a smiling patient. What 23andme didn't spell out- but Wikipedia did -was that LGMD potentially ends with death. The more I read about LGMD, the worse my mood grew. I fumbled with my shoulders and thighs and didn't notice any special degradation. I thought, "This can't be true. It must be an error."

It also appeared to me that I had absolutely no idea what the "technical information" behind the fine print link on the 23andMe result page meant.

When someone is confronted with a life-threatening situation, he or she can develop unexpected capabilities. When a nerd is confronted with a life-threatening situation, he reads every last site on the web until he completely understands every last bit of the circumstance. I downloaded my 23andMe raw data and poked at it with a text editor. I read cryptic articles about genetic engineering and installed the weird genome analysis tool, "Promethease," which can import, amongst other formats, 23andme raw data; but in contrast to 23andme it tells you even the very unnerving stuff. I tried to understand enough of genetic engineering to understand the source code of my own body. Someone had found a bug in me and I tried to reproduce it.

Technically speaking, 23andme detected two SNP variations in my genome called rs28933693 and rs28937900. So I attempted finding out more about these mutations. When you look up "rs28933693" in SNPedia, a kind of Wikipedia for SNPs, you'll find a link to an entry in OMIM (Online Mendelian Inheritance in Man). The entry features medical study excerpts concerning some LGMD patients that all had the same so called homozygous mutation in a certain gene location.

To understand the meaning of this you have to recall that humans are diploid organisms: We have two copies of each chromosome, one inherited from the mother, another from the father. A heterozygous mutation only affects one of the two copies, a homozygous mutation means that the same location of both copies differs in the same way.

Diploidy is a good thing, it means that I potentially have a backup of every critical function of my body. So if a piece of my DNA encodes a critical enzyme and this code is "broken" on one of the chromosome copies, it could well be intact on the other. If you're out of luck and both of your parents are "carriers" of exactly the same mutation, the inherited condition may manifest in you. This was the case with the LGMD patients mentioned in the study I stumbled upon. Both of their copies of the respective chromosome region are mutated in the same (homozygous) way, which triggers the muscular dystrophy. This very rarely happens, but it happens.

So now I should be one of those very few?

After researching tensely for some hours, trying to ingest as much knowledge as I could, I looked closer into the raw data that 23andme provided as a download. Yes, I really had two mutations. But they weren't on the same gene, but on two different genes. By rare chance, both of these mutations are statistically linked to LGMD, but to two different versions of LGMD. So I didn't have a homozygous mutation, but two unrelated heterozygous ones. The web programmer at 23andme had added those two mutations together into one homozygous one in their code. And so the algorithm switched to red alert.

I sent a support request to 23andMe including my research and conclusions (this would be called a "bug report" in software engineering). After a few days of waiting, 23andMe confirmed the bug and apologized. So the bug was not inside of me, but in the algorithm. An algorithm can be fixed easily, unlike my genetic code.

My inherited condition page now says: "Has multiple mutations linked to limb-girdle muscle dystrophy, but they are in different genes. A person with such mutations typically does not have the condition, but can pass the mutations to offspring. May have other mutations linked to limb-girdle muscular dystrophy (not reported here)."

I can live with that. For quite some time, I hope.
This is a translation of the original post in German on the blog, blogctrl+verlust. You can follow Lukas on Twitter @mntmn. We welcome your comments at ideas@qz.com.

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Why 23andMe has the FDA worried: It wrongly told me I might die young

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(Update: The headline of this post was changed to remove the words "false diagnosis" since 23andMe does not provide actual diagnoses.) In the wake of the FDA's warning letter to 23andMe to halt sales, I thought that my story might be of value for an English-speaking audience and decided to publish this file that I had lying...

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Megan Ishihara; What I think about getting tested.

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Megan Ishihara; What I think about getting tested.

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My personal opinion is that if you get a test done and you find out that you are at a high rate

of getting a terminal disease then that fact would kill you slowly on the inside rather than

letting you live your life to the fullest.

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I Don't Know About Me, but we've all got 23 (chromosomes)

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I Don't Know About Me, but we've all got 23 (chromosomes)

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Here is a link to the possible benefits and drawbacks of genetic testing via 23andMe or other methods.

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I signed up for 23andMe with an open mind. I emerged with deep concerns about privacy, among other issues.

Who Owns Your Data?

Thanks to the U.S. Food and Drug Administration (FDA), 23andMe was out of the genetic testing business as of December 2013-not that those genetic tests were all that practical to begin with. Unfortunately for consumers, as of October 2015, they were back in business again. But don't be too quick to sign up.

Prior to December 2013, 23andMe touted new age promises of direct-to-consumer genetic testing. At the time, eager users like me were provided with personalized information regarding:

Risks for 120 health conditions

Carrier status for 49 rare diseases

Standing on 57 traits

(The reports sound more useful than they really were, however.)

Amazingly, users paid $99 for:

Surveys that benefit the medical research community-companies pay 23andMe big bucks for access to your data.

Uninterpretable raw genetic data. (Why?)

Ancestry information and

Risk. Plenty of it.

There's No Going Back

If you're not feeling exposed yet, you should be.

In addition to the ancestry benefits that 23andMe touts, consumers of DNA testing should understand possible medical, legal, and personal risks of getting such testing. They should understand that once certain information is provided, it can Never Be Taken Back. This is the proverbial horse that's been let out of the barn. There's no going back on this information.

No matter how curious you are, the benefits that 23andMe provides should pale in comparison to its risks. Yes, welcome to the brave new world of

spit in a test tube

pay $199 plus shipping (they raised their rates but occasionally offer specials)

answer loads of intrusive personal questions about your health and lifestyle (known medical conditions, pesticide exposure, sexuality, family background, drug use, etc.)

then turn over your medical and personal data so big companies like Pfizer and Genetech can use it for their own financial gain. (Yes, folks, this is where Big Pharma steps in.)

My recommendation: Think very carefully before you do this.

Direct-to-Consumer Genetic Testing Becomes Widely Accessible

The possibility of learning about one's personal genetic unknowns has intrigued the public since 2008, when 23andMe's direct-to-consumer (DTC) genetic test was named Time Magazine's Invention of the Year. ¹

At the time, however, the company's price tag for personal DNA analysis was $999, placing the service out of reach for many. (For those willing to pay attention, there's a lesson in there about being an "early adopter.")

The Google-backed company has dropped its price several times since then in an effort to attract more customers. In December 2012, the fee was permanently reduced to $99, plus shipping ($9.95 in the United States)-permanently, I guess, until the rate increase to $199 in October 2015. 2

At these lower price points, many people find themselves at a decision point: " Should I get at-home genetic testing?" I was one of them.

I signed up before the December 2013 FDA involvement. I went in with an open mind, enthusiastic to discover more. However, I have emerged with deep concerns about privacy, the ability to withdraw from medical research, and who really owns one's data. Following is my opinion, based on my experience.

A Cautionary Tale for Anyone Interested In Genetic Testing

The Immortal Life of Henrietta Lacks

Registration Was So Easy

Signing up was so easy, but that's often the thing about mistakes-they're easy to make and tough to undo. As someone who was curious about my health risks and carrier status, I decided to take the chance and enroll.

I registered online with 23andMe and provided the required personally identifying information. This included my name, address, email address, and credit card information for payment of the service. The option to be tested anonymously does not exist. Don't think I didn't want that option.

The company subsequently mailed me a "spit kit" to collect a small amount of saliva. They had to do it twice because I didn't understand how to properly use it the first time around.

I subsequently returned the sample to the contracted laboratory for processing. (To promote privacy with the third-party testing lab, the consumer uses a registration number instead of his or her name.) Then, after 6-8 weeks, I received the information I had been waiting for.

Have You Checked Their BBB Rating?

Better Business Bureau ratings are general barometers of how a business tends to interact with customers. Rating reflect a variety of factors, including complaint history, governmental and licensing issues, type of business and time in business, business transparency, and advertising issues.

Why Is A Spit Sample So Valuable?

Personal genotyping consists of genetic analyses conducted on a small sample of a person's DNA. Although the company now provides only ancestry information. 23andMe is the largest company in the direct-to-consumer genetic testing market.

Saliva is used because our spit is a genetic window to who we are. Saliva samples contain DNA cells for analyzing single nucleotide polymorphisms, or SNPs (pronounced "snips"). SNPs are patterns of DNA cells that contain small changes, or copying errors. ⁴ These errors occur when cells reproduce. As a result, SNPs contribute to both observable and unobservable variations in health, physical appearance, and other aspects of what makes each person unique.

SNPs are inherited from one's parents. Therefore, they can be used as an index of genetic similarity. The more closely related you are to someone, the more likely you are to share SNPs. For example, you share more SNPs with a sibling than a third cousin. 5

When you turn over access to your DNA, combine it with personally identifiable information (e.g., name), then provide survey data (e.g., questionnaires on sexuality, personality, drug use, lifestyle), you hand over the keys to not only your own identity but that of your relatives. Why? Thanks to publicly available records, you have provided information about not just yourself but also your relatives. And there's no going back.

Who knows how this information will be used in the future?

More than 10 million SNPs exist across the human genome, and prior to the FDA's involvement 23andMe tested for about one million of these coding variations. ⁶ This coverage of only a portion of the genome was one of the major criticisms of 23andMe even before the FDA became involved.

In contrast, competitor companies such as Gene by Gene Ltd. offer consumers an analysis of their entire genome (called "whole genome sequencing"). However, such comes at the hefty price tag of $7,395 or more and requires the involvement of a personal physician. ⁷

Nothing Is More Personal Than Genetic Analysis

Like hundreds of thousands of other people, I took the testing before the FDA put a halt to 23andMe's personal health analytics. The U.S.Food and Drug Administration (FDA) intervened in late 2013 because of concerns that this service eliminated the physician as consultant or middleman by offering testing services directly to consumers.

During the entire process, rather than relying on a personal physician to request testing, deliver results, and answer questions I communicated directly with 23andMe. Diagnoses were never involved-just potential risk factors and carrier statuses. Imagine, however, the personal impact of discovering that your results include Parkinson's or another serious illness. That physician as middleman sounds more necessary than ever.

23andMe Testing: You're Putting Yourself At Personal Risk

Do you care about this information so much that you could risk not being able to get life insurance or long term care insurance? If an insurance company gains access to your data, then these could be the consequences not only for you but potentially also for your relatives who did NOT consent to having their DNA tested.

Is genealogy information so important to you that you could risk a possible data breach? Regardless of what 23andMe says about their security and privacy protocols, think about hackers and the value of all that data in one place.

If data systems can be breached at the IRS, Target, Home Depot, Anthem, AOL, Heartland, Ebay, JPMorganChase, and other large organizations, what makes 23andMe and their corporate partners immune? If you think you're not at risk, you're fooling yourself.

Risk Assessment for Health Conditions

I received the full "benefit" of 23andMe services prior to the December 2013 FDA involvement, when they were supposedly unimpeded by government intervention. I was left with a big "so what?" Today's consumers who grasp at the even more watered down health reports should consider that carefully.

The so-called health information was of varying usefulness. Some conditions tested only one or two genes associated with a disease or condition known to involve multiple genes. ( What's the real value in that?) Other results were based on findings of questionable validity (e.g., preliminary research studies involving less than 100 people). This is scientifically meaningless.

Still other reports were marginally interesting but of no practical value: hair curl and earwax type. Finally, there were other results that seemed to be issued based on what I had reported to 23andMe already in a survey. They were reporting back to me what I had reported to them. Duh!

A Word To the Wise

I became alarmed with 23andMe in the Spring of 2015 when I attempted to confirm with the customer care department that they had my status as OPTING OUT of research participation. The company's recent partnerships with 12 big pharmaceutical companies had triggered concern about privacy, security, who owned my data, and how it would be used.

I had completed some but not all of their exhaustive battery of surveys and had not logged on for a very long time. In response to my clearly worded request that I withdrew my consent from research, the customer care replied that "23andMe may still use the information for internal purposes." 23andMe was the door that, once opened, can never be shut.

I'm not done with 23andMe yet, however I am left to wonder what "internal purposes" means? Who has access to my data? What are they using it for? How many other people have made similar requests and had them unheeded?

Is it worth $199 to reveal your genetic code to a private company with big links to Big Data for the mere benefit of perhaps connecting with fifth-degree cousins. In the future will we be able to Google our DNA code?

My advice: If you're curious about your family tree, look to genealogy, not genetics.

A good family tree/geneology service will NOT require you to provide a biological sample

What's In Those Surveys?

23andMe survey topics include a variety of topics. Examples include:

personality measures

commonly used medications

sexual orientation survey

questions about tobacco and caffeine usage

pesticide exposure and

which toe is the longest.

Although 23andMe indicates that 90% or more of its consumers do participate in their survey research, users can opt out of surveys they consider overly intrusive or decline to participate in surveys altogether.

Sources

1. Hamilton, Anita. "1. The Retail DNA Test - Best Inventions of 2008 - TIME." Breaking News, Analysis, Politics, Blogs, News Photos, Video, Tech Reviews - TIME.com. Last modified October 29, 2008. Accessed March 15, 2013. http://www.time.com/time/specials/packages/article/0,28804,1852747_1854493_1854113,00.html.

2. Rochman, Bonnie. "Good Genes - TIME." Breaking News, Analysis, Politics, Blogs, News Photos, Video, Tech Reviews - TIME.com. Last modified August 20, 2012. Accessed March 17, 2013. http://www.enhancedmedicalcare.com/portfolio-items/time-magazine/.

3. Neff, Gina. "23andMe vs. the FDA: Both are wrong." Slate Magazine. Last modified December 13, 2013. http://www.slate.com/blogs/future_tense/2013/12/13/_23andme_vs_the_fda_both_are_wrong.html?wpisrc=burger_bar.

4. National Center for Biotechnology Information. "SNPs: Variations on a Theme." National Center for Biotechnology Information. Last modified September 20, 2007. Accessed March 16, 2013. http://www.livingnaturally.com/ns/DisplayMonograph.asp?StoreID=3ED1FF6A18BD42979FFF73C8E8CD4512&DocID=genomic-snp.

5. 23andMe. "What are SNPs?" 23andMe. Accessed March 15, 2013. http://www.23andme.com.

6. 23andMe. "Genotyping Technology." 23andMe. Accessed March 15, 2013. http://www.23andme.com.

7. GenebyGene. "Products." DNA DTC. Accessed October 17, 2014. http://www.dnadtc.com/products.aspx.

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The Risks and Benefits of 23andMe DNA Analysis

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I signed up for 23andMe with an open mind. I emerged with deep concerns about privacy, among other issues. Thanks to the U.S. Food and Drug Administration (FDA), 23andMe was out of the genetic testing business as of December 2013-not that those genetic tests were all that practical to begin with.

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-Money spent on testing could be spent for living a better lifestyle.

-Upon learning something that is not favorable it will stick with you the rest of your life.

-Already know the most likely disease from past family history

-It could lead to higher insurance rates and more financial consequences.

-Could develop a false sense of security from either a misdiagnosis or not having a gene

for a disease that can be contracted from the environment

-Employers may get a hold of genetic information that may keep them from hiring you

-False assessment of the DNA could lead people to believe that they would contract a certain

disease and pay for unnecessary surgery or medicine.

-Who knows where your genome will end up? Who knows who will see it?

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-Knowing if you are at a high risk for a disease based

on your family background.

-Allows you to find out more about your background

-Adjust lifestyle to prevent getting a terminal illness.

-Personalize health care.

-Tests are fairly accurate (99.9%)

- Can participate in clinical research trials in which a

complete knowledge of your DNA is needed

-Easier access to genetic information (it's online)

-Test only costs 99 dollars and only takes 10 minutes

-Could potentially contribute to more knowledge about

the disease because your results could help scientists

determine patterns