23andKids: Growing Up Genotyped

Photo by Hsien-Hsien Lei, Eye on DNA.

“Data, data, data! I want to see my data!” sang my 7-year-old, jumping around the kitchen, strumming his air guitar. What on earth was going through his mind? What did he think he’d get when he looked at his 23andMe data? We’ll probably never know, but, possibly influenced by his 12-year-old brother, he was definitely excited about seeing his data. His brother had been asking to see his own genetic information for days, ever since we told him it was available.Both boys had joined my husband and me a few months earlier as we looked through our own data. They quickly learned how to predict their own genotypes given ours, especially for the easy cases such as when Daddy has an AA and Mama has a GG. So they did have some clue as to what it’s all about.It took us a while to decide that we really did want to see our sons’ genetic data. The question of signing up children was in the air more than a year ago when Amy Harmon, science writer for the New York Times, interviewed employees at 23andMe as she prepared an article published last November. Amy was grappling with the question of whether or not to sign up her child.The question of whether and under what circumstances children should be genotyped has been debated for decades, and this ethical discussion is a fascinating and important one. As a scientist however, I chose to take a pragmatic approach. I recall telling Amy that my plan was to look at my own data and my husband’s first, to get a sense of the possibilities for our kids. Dad and Mom both have a low genetic risk for type 1 diabetes? Kids are likely to have a low risk too. Mom has a higher than average risk for age-related macular degeneration and Dad has a typical risk? That’s a little tougher.Furthermore, given that they’ve reached the ages of seven and 12 without serious illness, we know the boys have been spared some of the rare recessive genetic diseases (where two broken copies lead to disease) that show up early in life. And there is no history in my family or my husband’s of diseases that have a clear genetic basis.After we had concluded from looking at our own data that we were comfortable with all the possible outcomes for the kids – at least for the current set of traits and conditions – there was one other big thing to consider: non-paternity. Fortunately that wasn’t an issue in our case — I was glad to be confident about that! Nonetheless, one of the first things I looked at when I initially explored my children’s data was the Paternal Line feature, which can reveal non-paternity. To my surprise I found myself a little nervous as I clicked on the link. If the boys’ paternal lines didn’t match my husband’s I was going to have to do a very quick investigation to see what had gone wrong! Sample mix-ups are unlikely, but that would have been my first guess. In any case, when I clicked on Paternal Line, I saw the boys reassuringly listed with their Dad, within Y haplogroup R1b1c. They also shared my maternal haplogroup, H10. Even though I knew they would, it was satisfying to see them there, just like the textbooks predict!Before showing the boys their data, both my husband and I looked it over; this seemed like an important step. It is challenging because the site is so rich, but we concentrated on things we knew could have the biggest impact, such as age-related macular degeneration and venous thromboembolism. There is no way to check everything however, partly because 23andMe adds new information each month, so there is no way to know whether or not there will be dramatic findings in the boys’ genomes in the future.I clicked on the Eye Color report, which we knew would be interesting. My husband and I have brown and hazel eyes; both our sons are blue-eyed. The odds of that are pretty low: depending on the parents’ genotype they can be either zero or about one in 16. But there the boys were, both of them, with GG genotypes, having received one G each from my husband and me.Just because I was enjoying seeing the genetics work out, I clicked on the Bitter Taste report next. My boys had tasted the PTC paper (little strips of paper often used in genetics classes to explore this simple trait) at a 23andMe event last fall. The older one hadn’t tasted much, like me. The younger one, who’s generally pickier than his brother about food, had twisted up his face in disgust. Sure enough, the younger one showed up in the “taster” box with my husband, while the older one turned out to be a “non-taster” like me.One of my favorite features, maybe because I’m a geneticist, is the Family Inheritance feature, where relatives can compare chromosomes. Each set of relatives has a characteristic pattern. My boys showed up with the characteristic sibling pattern when I compared them to each other – fully identical in 25% of their genomes, half-identical in 50% and unmatched in the remaining 25%. They share only one copy of the immune system genes on chromosome 6 (half-identity), so it is unlikely they would make ideal candidates for bone marrow donation to each other, were that to become necessary.The boys do share the Alzheimer’s disease-associated APOE gene region at 100%, however. So even though we don’t know their genotypes because 23andMe doesn’t report on that gene (yet), we know the boys have the same genetic risk.When we found some time one evening to show the boys their data, we first showed them their maternal and paternal lines, and how they matched ours. We then showed them the simple, non-disease traits such as Eye Color and Bitter Taste. My favorite moment was when we figured out that the boys had received their maternal blue eye color from my Dad, who died 20 years ago — my mother doesn’t carry the blue variant. My boys haven’t had many reasons to connect very directly with either of their deceased grandfathers, so when we made this discovery, I quickly looked around for a photo of my Dad, finding a tiny one on the office wall. I pointed it out to my younger son, who exclaimed, “My Grandpa!” Knowing he had received something in particular from his grandpa seemed to strengthen that otherwise wispy connection.As we meandered around the site, my older son started getting antsy — he wanted to choose what to look at. “Obesity!” was his first choice. I think he may have been expecting a yes/no answer, so he might have been a little disappointed to see that he has close to average genetic risk — neither yes nor no. Type 2 Diabetes was another of his choices. That report revealed that one of the boys has twice the genetic risk of the other. We teased him that he will have to watch the candy intake. I didn’t see the need to make a big deal out of it, in part because I know that although the risk estimates appear quite different there are so many other factors (diet, exercise, other unknown genes) in play that the information is more a reminder to keep an eye out for any symptoms than anything else.So, should parents get genetic testing for their children? More specifically, should parents who don’t work here sign their children up for 23andMe’s service?The benefits and risks associated with knowing such information have not been studied systematically. The possible benefits include information that leads to better health decisions. Our family has also benefited from being reminded of our connections with each other and the things we share.The fears typically revolve around the possibility that strong emotional reactions or misinterpretation of the information could lead to poor decisions. Discovery of non-paternity is a valid fear, as is the possibility that people will feel they are to blame for having passed down a disease-influencing genetic variant. But research studies have shown that most people who get genetic testing, even for serious diseases, may have a strong reaction initially but generally show no change in stress level or quality of life a few months later. That research has been an important factor in my decisions regarding 23andMe’s service.And what if we are surprised one day, with news that one or both of the boys is at high genetic risk for a serious disease? I predict that we’ll use that information somehow. We’ll learn more about the disease, we’ll study all the prevention and treatment options. We’ll find out about the latest research, and take steps to prevent anyone from feeling that they “caused” this by handing down a mutation. We’ll be proactive. It’ll be a family project.My older son has asked about getting direct access to his account. Children are not allowed to sign up for 23andMe’s service on their own, for good reason. I “own” my sons’ accounts, and they do not have the passwords. Currently I feel strongly that he should look at his data only with a parent. Maybe we will reconsider as he gets older.We look forward to returning to the site with the kids as new reports come out and additional relatives sign up. My husband and I might start answering “23andWe” research surveys on our sons’ behalf soon — they can’t answer for themselves given the 23andWe rules, but together we can answer and thereby contribute to research. Another great topic for family discussion raised by 23andMe’s service.
  • griffin

    I just finished reading the 23andKids article and as a grandmother to these two boys I am trying to decipher my gut reaction to them being made aware of some of their gene traits.

    I know that when I first received my own information I was also excited and nervous at the same time. For the most part I was very interested to know more about myself not just medically speaking but also being able to understand some of my characteristics which partially came from my inherited genes, some of which I will have passed on to my daughters and my grandchildren.

    Two traits were of particular importance to me and would therefore be of concern for my offspring. The first was the possibility of having the gene that would show a higher than average possibility of getting MS. My mother had the disease diagnosed in 1960 at the age of 49 and, despite all the best efforts of the medical services at Queens Hospital in London in the 1960s, she died in 1969. All our lives my sister and I had wondered if we might be more predisposed to get MS. In 1994 I had some problems with tingling in my arms and legs and was sure I had the start of MS. My main worry at that time was how to tell my children – their father had died 5 years before and I felt I would be letting them down if I should have the disease and pass on the likelihood of them getting MS. However, I did not have MS – apparently I was just getting too much medication for high blood pressure and it was soon resolved. My current gene profile shows that I am a lot less likely than the average person to get MS, and because of that I had felt a sense of relief. I now understand that new research could show that there may be another high risk gene which I may or may not have. Research is forever ongoing and so I will be looking for new information in my profile from time to time. My sister will not submit to the gene test but I did notice that she felt that some of my results, particularly the “good” ones, would relate to her!

    The second trait and probably the one that has had the greatest impact on me was when I was calmly browsing through my gene profile and found that I had a much higher than average likelihood of getting age related macular degeneration. I’m pretty good about getting all the checkups one needs at my age (65) and was taken aback to realize that I had not had a proper eye exam for about 12 years. I immediately got an appointment with the ophthalmologist and was told that I did not have any symptoms (as yet) but that I should definitely be rechecked every year for that and for glaucoma. I mention this reaction to my data because I believe it has made me more proactive and involved in my own healthcare.

    I did not see in the article whether or not my grandsons have this higher likelihood for age related macular degeneration and obviously I would prefer that they not. But they are young and hopefully research will find new cures which will be a matter of course when they grow older. Who knows maybe it will lead them to a career to find a cure for such problems – I do believe that knowing more will be of great benefit to them, personally in their lives, and for research in general. Their parents will use their good judgment in disseminating the information in their profile to them as they grow older.

    On a less serious note I have to say that I smiled when my grandson suddenly felt a connection to his Grandpa on hearing that he had inherited his blue eyes and that his older brother wanted to look at his own profile in reference to “obesity!”

    My grandsons have been born into a very interesting time.

  • One thing for sure, @griffin, your daughter and grandchildren seemed to have inherited the healthy curiosity you show. 🙂

    @JoannaM While the 23andMe tests give genetic information at a greater detail than we have ever had before, we’ve been doing ‘genetic’ testing for decades as we look back at disease incidences and phenotypes of our parents and grand-parents – heart trouble, obesity, diabetes, MS (as @graiffiin points out), and so on. In many cases more direct information is helpful, but in many other cases, you won’t need a genetic test to tell you that you are carrying something.

    Nonetheless, this is an awesome story about your family. Thanks for sharing. You all are pioneers and I trust that this story will be commonplace before we know it.

  • Amy

    I am very curious about the non-paternity issue. Has anyone found that the father they thought they were biologically related to is different than the one they are actually related to, and how did they react?
    I don’t mean to pry, it is just an issue that never came up before, and I have heard statistics saying there are far more cases of non-paternity than people suspect.

  • @Amy,

    Finding out things about your family that you never knew is a known risk of genetic testing. I personally have heard a few stories of people finding out about non-paternity. It seemed to me that many of these people were at first surprised, but then glad to know the truth. But this is probably not the case for everyone. Anyone considering a service such as 23andMe’s should consider these issues before making their decision.

    The following FAQ on the 23andMe site covers some more unexpected things you might learn through our service: https://www.23andme.com/you/faqwin/unexpected/

  • dfwmom

    “The benefits and risks associated with knowing such information have not been studied systematically” This attitude within the medical community frustrates me immensely. It is incredibly arrogant and CONDESCENDING and really, horrifically obnoxious to believe that you should ever be empowered to keep a person’s private medical data secret from the person it pertains to. The medical community should stick to studying medicine, instead of studying how or whether to control people’s access to information about themselves. Information is power, and doctors do this in order to seek power over people, by consolidating their power over people’s information. Regardless of whether it’s good for me or not to know about my medical data, it’s still MY information, and MY decision whether to reveal it to myself — not yours. It will never be anyone else’s decision by my own. Even if it leads me to bad choices, even if I make decisions that are not the best for my health. Because, I have a human right of self determination, and you have no right to interfere with that human right, even if you think it’s in my best interests. To do so, is to play God. Keeping people’s own medical information from them is not practicing medicine, it’s practicing Hubris.