For the past five years or so, I’ve heard the following prediction echoed in classrooms, genetic counseling related social circles, and books I’ve read: “soon your baby’s genome will be sequenced and handed to you at birth!” I just ran into the sentiment while reading Genetic Twists of Fate by Stanley Fields, a nonfiction compilation of unique genetic stories. The author of that book suggests that some of the individuals he writes about in his book might have avoided or lessened their genetic struggles, had they been given access to their full genome at birth.
I’ve always found it interesting that such an idea gets thrown out off-handedly. I mean, it sounds very much like the beginning of the Gattaca universe! Having done 23 and Me and Ancestry (+Traits!) as an adult, I try to think of what it would have been like to have been tagged with those traits and disease susceptibilities as a baby.
For me, it wouldn’t mean all of that much. Luckily, my direct-to-consumer genetic testing results were quite boring. Still, I did have this interesting tidbit.
Ok, who is going to tell Baby Laura?
As an adult, I’d say this genetic tidbit has been slightly motivating for me to make healthy choices when I’m thinking about a 4th donut or skipping exercise. (But let’s be real, I still take too many donuts more often than not!) But would it be an insightful insight for my parents as they held me for the first time? Not really. As future genetic counselor, I see more harm than good in a future with a full genetic report at birth.
I’m glad I have this tidbit about diabetes, as well as the “boring” info, like my completely negative carrier report! But the key to my satisfaction with this information is my consent to receive it. I wanted this information as I reach my mid-twenties, am starting to feel less invincible, and am hoping to have children in the next few years. Knowledge is power in my case!
Unexpected fact though, as a kid I had pretty severe health anxiety. I was the last kid you’d expect to say that I was going to grow up and work in a hospital.
This point might be unique to my situation, but I can’t imagine me as a kid overhearing that I had a genetic mutation that put me at risk for something. I mean seriously, I was already thinking I was going to die of asphyxiation after breathing in “fumes” from Lysol wipes, or thinking I had a brain tumor because I have a small lipoma on the side of my head. And sure, that’s probably just me and my childhood fixation. However, it’s not too far-fetched to imagine that an inundation of genetic information could overwhelm new parents, growing kids, and their family development.
As I mentioned, consent is key! A little newborn can’t consent to knowing their risk for breast cancer or Huntington Disease. I feel that better than a full baby genome would be a two-part genome sequencing: newborn screening, and adult screening. With our ever-expanding range of genetic testing we could pursue a greatly expanded newborn screening panel which includes genetic testing for a variety of childhood-onset conditions, especially conditions that can improve with treatment. Then we can worry about running whole exomes in adulthood, if that person decides to pursue that.
I look forward to whole exomes becoming cheaper and more accessible, so that in the upcoming years people will be able to explore their genetics in depth if they wish. As genetic counselors grow in number and genetics research springs forward, I anticipate there will be much useful information that patients can gain from exploring their genomes.
It’s an excellent goal for us to aspire to: accessibility to personal genomic information for all. But just like no one should forcefully suction saliva from someone’s mouth and make them do 23 and Me, no one should be forced to know their genetic proclivities from birth. So, I hope that authors and professors will move away from declaring that we’re a few years out from whole genome or exome sequencing at birth, and be open to discussing the pros and cons of knowing genetic information. We as future genetic counselors are out to provide patients with informed consent to know what they truly want and need to know about their genes. By helping patients make these choices actively and intentionally, we prevent undue stress and anxiety, and provide them with empowering information.