Getting my whole genome sequenced is my way of making the world a better place today than when Ethan was born. By learning about and changing my own view of genetic sequencing, I can make an impact on the way our culture thinks about and uses the secrets of our biology to fight diseases and prevent unimaginable tragedies.
My journey started years ago with a question: “Are you Ashkenazi Jew, French Canadian, or Creole?”
This simple list plunged me into the dilapidated state of medicine in 2003. I said no and thought to myself that would know if I were—I mean, wouldn’t I? My OBGYN replied quietly, “Okay, I would have tested you for Tay-Sachs, but since you’re not in a high-risk group, I’ll just test you for Cystic Fibrosis.” The entirety of this conversation happened in the blink of an eye and remains etched in my memory.
The fact of the matter is that I wouldn’t necessarily have known whether I was in a high-risk group or not. Indeed, it did not even matter: I still had a 1-in-250 chance of being a Tay-Sachs carrier, but nobody told me about that. The omission left me completely unaware, just like more than a million other Americans whose doctors neglect to tell them this important, sometimes crucial, fact.
In the years since then, I have wondered what else my genome could tell me. This question most recently sent me to Dallas, Texas for the Understand Your Genome conference held by a company called Illumina. Illumina has long been on the forefront of whole genome sequencing (WGS). A few years ago Illumina began offering WGS to the general population, accompanied by a detailed conference regarding the process and results. The only thing you needed was a doctor’s order for the testing.
I heard about Illumina in 2013, soon after Ethan was diagnosed with Tay-Sachs. I signed up for the sequencing and conference right away. At a cost of $5,000, I was determined to learn the secrets of my genome. It should have been a snap to get a doctor to sign my order. After all, we’d already identified our Tay-Sachs mutations when Ethan was diagnosed. Lysolab tested Ethan’s HexA levels to confirm that he had Tay-Sachs. GeneDx sequenced his HexA gene to identify his two mutations, then tested us to see which mutations we carried.
I talked to Ethan’s doctors about getting my whole genome sequenced. I was baffled when each gave me the same littany of responses. You have no reason to get sequenced because you are asymptomatic. The technology is too new to be reliable. You’ll suffer genetic discrimination. The number of incurable diseases that you could have is too many to count.
Still—hadn’t I already received what could arguably be the worst news of my life? News that undoubtedly could have been entirely prevented had I been whole genome sequenced in the first place!
It was about that time that Ethan became very ill. I reluctantly withdrew my registration for WGS. Then I just sat and watched for weeks as my son passed away before my eyes.
This summer, I decided to start again. I was determined to sign up for any genetic testing that I could get access to. I started with ancestry.com, which turned out to be very interesting from a genealogical perspective, but not so illuminating from a medical perspective. Then, I signed up for JScreen, which has some of the most comprehensive panels available upon request, but again only with a doctor’s order. I convinced my OBGYN to sign the order and JScreen sequenced several genes to test me for over 100 conditions. They all came back negative except for Tay-Sachs. And JScreen provided video genetic counseling to explain all of my results. My experience with JScreen is discussed here: http://jscreen.org/blog/michelles-story/.
This fall, Illumina added a Watch and Learn program to its conference, in conjunction with Genome magazine, and that’s how I landed in Dallas on a chilly day in November. Many of today’s genetics leaders were at the conference—luminaries expounding on topics ranging from basic genetics to medical ethics to the evolving genetics of cancer.
But I didn’t get my genome sequenced in Dallas.
I’ve offered the opportunity to see WGS in action to every doctor I know, but it’s still too new. I did muster up the courage to ask conference attendees why it’s so difficult to access our genomes, though, and why doctors stand in our way. Several people shook their heads and admitted it was a problem.
The irony is, of course, that it’s MY genome. Not letting me learn about it is like refusing to tell a blind man what color shirt he’s wearing—it’s just that genomes are significantly more important.
We’ve got a lot to learn still, about what genomes can do for us, why access to them is a good thing--and what in the world is in mine!
And so, just as new year is about to begin, my quest continues. Perhaps in 2016 I will finally be able to unlock the secrets inside me, inside my whole genome sequence.