What are you made of?

Inexpensive genetic testing for health issues raises moral and ethical questions but provides few answers

Angelina Jolie made me do it.

My practical efforts to learn whether I had any unknown genetic health risks began in earnest when Jolie had those magnificent, world-famous breasts surgically removed. Since she’s one of the most famous actresses in the world and has been called “the most beautiful woman in the world” many times over, you probably know the story: Jolie, a mother of six, had a double mastectomy to prevent developing breast cancer. She also plans to have her ovaries removed in order to prevent developing the same kind of cancer that killed her mother, Marcheline Bertrand, in 2007, at the age of 56. Jolie’s aunt, Bertrand’s sister, Debbie Martin, died of breast cancer just a few weeks after Jolie’s surgery.

While I find her decision nothing short of heroic, it also made a certain amount of rational sense. By some measures, the actress had an 87 percent risk of developing breast cancer and a 50 percent chance of ovarian cancer because of genetic variations, the BRCA1 and BRCA2 genes, that ran in her family. Her mother and aunt had the same mutation. (Health officials quickly noted that these risk probabilities do not apply to most of the population.)

I crapped out on the genetic dice roll as well. My mom died young of a brain aneurysm, after having lived a wholly laudable life, never having smoked a cigarette, gotten drunk or even said the ’F’ word. My dad, on the other hand, smoked for years, drank more than was good for him, had heart attacks, strokes and diabetes. He’s 80 now. His brother, Leonard, a Catholic priest, died at 47 of a massive heart attack. I guess I don’t need to say my lifestyle choices have more aligned with my dad’s than my mom’s, and at 51, I’ve already had to face issues of obesity, diabetes and heart disease.

I’d like to say this is proof of the old adage “only the good die young,” and somehow I’ve been inoculated against early death, but I’ve known far more hedonists who died without wrinkles than I have saints.

But the threat of an aneurysm, heart attack or diabetes didn’t hold a candle to my greatest health fear: Alzheimer’s. I’ve said many times that my right not to have my family suffer through my death by Alzheimer’s is a fundamental human right, and I’d blow my brains out long before I put them through that. How’s that for a happy thought: Lingering death by Alzheimer’s or the family ordeal of a suicide?

But Angelina Jolie was not my introduction to this concept of testing for genetic medical issues. She was just the catalyst. Tanja Poley, human resources manager for this company, had put the seed in my mind months earlier. She’s the adoptive mother of two Chinese children. A late onset Type 1 diabetic, she was very concerned about the lack of information regarding her children’s family medical history. She had the analysis performed on herself through an outfit called 23andme, but after having the analysis, decided against having her children tested.


This individual genetic analysis is a fairly new science called personal genomics. Since I’m a cheapskate, I went with 23andme to do my analysis, mainly because it was the cheapest and biggest at the time, due to a multimillion dollar grant from Google, which brought the price down to $99. But there are other companies that do genetic analysis (see sidebar), although they generally cost at least as much, and focus on different kinds of information.

It’s a simple process. Just go to www.23andme.com and order a kit. The kit took 10 days to arrive at my house. It’s basically a box with a tube in it, instructions and a mail-back envelope. After not eating, smoking or using alcohol for a half-hour or so, you spit about a half-teaspoon of saliva into the tube, seal it, which automatically releases a stabilizer, and mail the sample back to the company. I had my results in 18 days. While I was waiting for them, I answered medical history questions on the website until I got bored. I presume those results were measured against others to look for relationships among symptoms and genes to possibly discover new genetic markers, and it must work because 23andme claims certain discoveries.

Tanja Poley is the HR manager of the News & Review and the adoptive mother of two children.

Brad Bynum

Personal genomics has come a long way in a short time, baby. But the real problem behind these inexpensive types of tests is that the science hasn’t come far enough. For example, companies like 23andme only analyze about a million genes out of the 3 billion on a human genome (that’s the complete set of DNA, which is made of two twisting, paired strands). But every individual who participates adds to the database, increasing the accuracy of the information provided back. It should also be mentioned that a single gene variant barely nudges someone’s overall risk, so the results are less actionable than they are just interesting. It’s an incredibly complex interplay between the individual variants and how they interact with each other and the things our lifestyles add to the mix.

In other words, with the part they do analyze, most of it isn’t as black and white as that of the BRCA 1 and 2 markers for breast cancer. I say “black and white” knowing that the presence of those markers are no guarantee of developing the disease. Or not developing the disease, for that matter. But this is the sort of information the Tomb Raider actress based her decisions on.

The National Cancer Institute says, “According to estimates of lifetime risk, about 12.0 percent of women (120 out of 1,000) in the general population will develop breast cancer sometime during their lives compared with about 60 percent of women (600 out of 1,000) who have inherited a harmful mutation in BRCA1 or BRCA2. In other words, a woman who has inherited a harmful mutation in BRCA1 or BRCA2 is about five times more likely to develop breast cancer than a woman who does not have such a mutation.

“Lifetime risk estimates for ovarian cancer among women in the general population indicate that 1.4 percent (14 out of 1,000) will be diagnosed with ovarian cancer compared with 15 to 40 percent of women (150–400 out of 1,000) who have a harmful BRCA1 or BRCA2 mutation.”

So personal genomics is all about odds. What you do with those odds is as individual and as stressful as deciding whether to hit on a 16.

According to the 23andme website, the company tests for more than 240 health conditions and gives test results for 40-plus inherited conditions. So, let me pose you some questions: What if my results had come back that I had an elevated risk for Alzheimer’s? What if I had say, a 51.3 out of 100 chance of getting Alzheimer’s between the ages of 50 and 79? What is the only preventative measure available to me? Or better yet, what if something I had never even considered, for example, atrial fibrillation, showed an increased risk? And what if stress is a cause of atrial fibrillation? Do I sign up for my pacemaker now?


Tanja Poley, the News & Review’s HR manager, comes from a family that all had interest in what their genetic analysis might hold. That’s got to be genetic, right?

“My sister and my mom were really intrigued by this idea,” she said. “So for Christmas that year, I bought them the test kit. As a side note, my sister has done the DNA on her dog, so she knows exactly all the breeds that he is (see sidebar). So, we’re just kind of a family that’s intrigued by the science of this and who we are and where we come from. So when my sister got her results back, it showed she was 100 percent European, but when I got mine back, it showed that I was only 99 percent European, and so we just kind of wondered how two sisters could have that different heritage. … My 1 percent shows that it comes from Nigeria or Japan.”

But as I said, Poley had a deeper interest than just curiosity. She’s the adoptive mother of two children. Noah is 10, and Grace is 12, and they’re originally from Taiwan, Republic of China.

“I had my DNA done because my children are adopted,” she said. “In a conversation once with other adoptive moms, it came up about getting their DNA to see if there were any health concerns we should be aware of since we didn’t have any family medical history on them. I was kind of intrigued, but I wanted to do it to myself first to see if I really wanted to take this step to get the DNA on my children.”

With her 1 percent possibly Asian genome, she wonders if there isn’t a metaphysical connection from her genetic make-up to her adopted Asian children, but is a bit hesitant to discuss it because, well, that’s not the sort of thing human resource managers generally talk about in newspapers. But her perception into genetic analysis goes a bit deeper. She developed Type 1 diabetes when she was in her 20s, a genetic marker that’s mentioned in the 23andme data.

“So the results that I got, I shared with my mom, and I said, ’So if you had known this about me when I was 10 years old, would it have changed anything in the course of raising me? And she said, ’No, it wouldn’t.’ That was one of the most insightful parts of the whole thing. We know I have Type 1 diabetes. It doesn’t run in my family. But my DNA showed that I do have a higher risk of acquiring diabetes than the average person. But the DNA showed that I have a 7 percent higher chance of getting it than the average person. And I got it. But I have like a 30 percent chance of getting restless leg syndrome, and that hasn’t shown up yet.”

D. Brian Burghart’s future is so pointy, he has to wear 3-D shades.

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So while the results of the analysis may be 100 percent accurate, they are far from precise, and the data raises more questions than it provides answers.

“That is part of the reason I decided not to do it for my children, because it wouldn’t change anything in raising them,” Poley said. “What it did bring up was this whole ’who are we?’ It was too heavy for a 10-year-old. I completely support them doing it when they’re adults, but I think it’s something that adults have to do.

“All it really shows is who you could be, but it doesn’t really tell you who you are going to be. Or who you are. And that’s why I decided not to do it for my kids.”

Me and 23andme

In the end, I’m mostly with Tanja: The information I gained from 23andme has changed little about my behavior. Every one of these pieces of information goes back to the cliche pieces of advice that moms and doctors have been giving since they invented moms. Don’t smoke, maintain a healthy weight, exercise, eat natural foods, get plenty of sleep, and keep your brain active. I’d add, learn how to healthfully manage stress and cut people with forked tongues out of your life, but that’s just me. It’s probably in my DNA.

So, let’s take a look at my personal results from 23andme. There are essentially two parts to the results: Health overview and ancestry overview. Dig a little deeper into the innumerable links on the site, and you’ll be better informed about health issues, and probably begin to notice signs of insomnia.

Health overview is broken down to five subcategories: 1) Health risks: your risks for common and complex diseases; 2) Drug response: your body’s response to drugs and medications; 3) Inherited conditions: health conditions passed down through families; 4) Traits: your genetic likelihood of having various traits; 5) Health tools: experimental health features using your DNA.

Ancestry overview is likewise broken down to five subcategories: 1) Ancestry composition: the percentage of your DNA that comes from populations worldwide; 2) Maternal line: Your ancestry from your mother and through her mother and beyond; 3) Paternal line: your ancestry from your father and through his father and beyond; 4) Neanderthal ancestry: Your genome wide percentage of Neanderthal ancestry; and 5) Ancestry tools: experimental ancestry features using your DNA.

The only part I really care about is health risks. That subcategory is broken down into three subcategories, and I apologize for the long list, but aren’t these the reasons you got this far into the story?

Here are the diseases for which I have elevated risk: atrial fibrillation; gallstones; exfoliation glaucoma; primary biliary cirrhosis; abdominal aortic aneurysm; basal cell carcinoma; Behçet’s disease; Dupuytren’s disease; glaucoma; gout; keloid; kidney stones; meningioma; migraines; narcolepsy; nasopharyngeal carcinoma; neuroblastoma; osteoarthritis; Parkinson’s disease; primary biliary cirrhosis; progressive supra nuclear palsy; restless legs syndrome; sarcoma; stroke; thyroid cancer; developmental dyslexia; essential tremor; myeloproliferative neoplasms; and Tourette’s syndrome (WTF!).

Here are the diseases for which I have decrease risk: prostate cancer; venous thromboembolism; Alzheimer’s disease (Yes!); psoriasis; age-related macular degeneration; melanoma; restless legs syndrome; rheumatoid arthritis; ulcerative colitis; esophageal squamous cell carcinoma (ESCC); stomach cancer (gastric cardia adenocarcinoma); Crohn’s disease; Celiac disease; atopic dermatitis; breast cancer risk modifiers; cluster headaches; follicular lymphoma; kidney disease; obesity; Paget’s disease of bone; schizophrenia; scoliosis; selective IGA deficiency; melanoma; back pain; tardive dyskinesia; and obsessive-compulsive disorder.

I’ll skip the third subsection, which is “Typical risk” except to point out the top three on the list are obesity, coronary heart disease and diabetes, all of which I have problems with. I will also point out that 23andme says I have both increased and decreased risks for restless legs syndrome.

I won’t go as far as Tanja to say that I will change nothing on the basis of what I learned here. Obviously, I let nature get a leg up on nurture during almost four decades of bad lifestyle choices. Nor will I go as far as Angelina and have surgery because I have a 33.9 percent chance of suffering from atrial fibrillation. But I will bear all this information in mind when I notice funny, inexplicable symptoms.

And while I find it interesting that 23andme says that 2.9 percent of my DNA came from Neanderthals, some of my friends would say that while 2.9 percent is high for the general population, it’s probably low for yours truly. And they’d almost certainly point to the fact that Angelina Jolie’s breasts did more to get me to consider my own lifestyle choices than all the dire warnings of modern doctors.