Mark Wanner (@markgenome) followed graduate work in microbiology with more than 20 years of experience in book publishing and scientific writing. His work at The Jackson Laboratory focuses on making complex genetic, genomic and technical information accessible to a wide audience.
I used to edit books.One thing I loved about book editing was that I was always learning. The authors were my teachers, delving into their subject matter with expertise and passion. It was usually invigorating and exciting, but every now and then something would come up that surprised me in a not-so-good way. I couldn’t help but think of one such instance while I read a recent article in the Wall Street Journal. The book I’d been editing was the autobiography of a very aged, beloved politician. Sometime in the late 1940s or early 1950s, I don’t remember exactly, his wife had become ill with cancer at a relatively young age. As she neared death, the author recounted, he thought she suspected she had cancer, but her doctors never told her. Nor did he. Nobody, not a single person, ever told a dying woman what she was dying from.I know now that this wasn’t uncommon in that era, but at the time it floored me. From my perspective it seems horrible, paternalism at its worst. And so we return to the WSJ article, which had me a bit riled from the title alone: “What Geneticists Think You Should Know.” It’s a rather shallow piece, actually, about a study into how geneticists view returning various data from genome sequences to patients. Should a patient be informed of a dire, yet at the same time “incidental,” finding not related to their presenting disease, such as the mutation for Huntington’s disease? Some of the geneticists thought not.It was nearly two years ago that I wrote about the REVEAL study. It indicated people wanted to know the results of genomic testing and weren’t at all discombobulated by it, even if it contained bad news. (The example then was a higher chance of Alzheimer’s.) I thought that this was an important issue to explore, but that with greater understanding and awareness it was sure to become quite evident that people can handle knowing about their genomic makeup, warts and all. After all, we’ve moved way past the paternalism of the mid-1900s. Haven’t we?Apparently not. The WSJ article is merely the latest in a series of commentaries that by now add up to useless hand-wringing in my mind. The AMA even advocated against giving access to DTC genomic testing without a physician serving as gatekeeper and interpreter for the test. (The AMA’s letter (pdf) did spark some irate commentary at the time.) This was particularly ironic, given the well-documented lack of understanding of clinical genomics among doctors. Grant you, DTC genomic testing at this stage will likely provide vaguely alarming susceptibility reports instead of actionable information, but the condescension (and $$$ signs) practically drips off the AMA’s messaging. Why do we rabble in non-medical or scientific professions need such protection? Are people that fragile?Maybe I’m an outlier, but if I have the genetics to get a devastating disease and my genes can tell me, I want to know. (Disclosure: I have yet to have my genome sequenced but will when my circumstances allow.) I want to prepare for the future with that knowledge—find patient communities, lay a solid foundation for my children, and yes, have more fun while I can. No sense letting that fancy wine age gracefully without me and all that. If someone thinks differently and wants to opt out of learning “incidental” findings in their genetic information, fine. But, with understanding, I think few people will choose ignorance.The advent of genomics in healthcare brings with it added responsibilities to us as citizens and patients. And we need to not just accept the responsibility but to embrace it and the benefits it will confer on an active, knowledgeable patient population working with our doctors, not blindly following them. I expect to see more hand-wringing in the months and years ahead, much of it well-intentioned but most of it, in the end, overbearing. It’s up to us to insist that we deserve to know our information, and that not only will it not harm us, it will help us moving forward.