I have been struggling with why the idea – and likely coming reality – of universal newborn genome sequencing disturbs me. It’s finally crystallized: the practice could create a genetic underclass.
On the day that genome sequencing of all newborns begins, a cohort of individuals about whom a tremendous amount of personal information exists will be instantly created. At the same time, the practice will establish a shrinking cohort of most of the rest of us who do not know our genome information.
A century from now, possibly everyone will have access to her or his genome data. But until then, how can we prepare to handle the avalanche of information of what I’d call, if I were a science fiction writer, “generation Alpha?”
My idea of the Alphas is inspired by the 1992 dystopian novel The Children of Men, by P.D. James. In 1994, all human sperm suddenly die, and 1995 becomes Year Omega. After that, populations plummet in the face of global infertility, with the last remaining people, the Omegas, struggling towards inevitable extinction.
What will happen in our world as the Alphas age? For now, mining sequenced genomes is experimental and seeks to end the “diagnostic odysseys” endured by patients, typically children with rare or one-of-a-kind diseases . But just as opening a magazine can reveal much more than the article one is looking for, a genome sequence provides hundreds of thousands of gene variants that might mean something about a person’s health. And so the American College of Medical Genetics and Genomics lists 56 “actionable” secondary (“incidental”) conditions, a minimal menu of conditions which doctors can prevent or treat. The list is always growing.
Thousands of newborns have already had their genomes sequenced, and the actual deciphering takes under a day – a lot better than the decade it took for the first human genomes. But our understanding of our genomes, of how genotype becomes phenotype, lags behind the ability to decipher the overlapping strings of A, C, T and G. The value of an “annotated” genome to “raw sequence” is like comparing the meaning of the novel To Kill a Mockingbird to the book cut up into a pile of tiny pieces. When it comes to genomes, meaning and context are everything.
The era of looking for what we already know, the “round up the usual suspects” approach to gene identification and disease diagnosis, will gradually end as more human genome sequences and their interpretations are stored in clouds. Our algorithms will ultimately identify all possible gene variants and all possible combinations of and interactions among them – and what they mean at the whole-body level, the phenotype.
My concern is not those “usual suspects,” the well-studied mutations known for decades to cause inherited illness: cystic fibrosis, sickle cell disease, Huntington disease. I fear the fuzzier genetic information. Genome-wide association studies, for example, identify suites of gene variants that signal a good chance that an illness will happen, but not with the power of a clinical diagnosis. The media often trumpet such findings with a false sense of certainty. (Note on terminology: “gene variant” is a broader, more politically correct term without the negative connotation of “mutation,” which classically means “change in a gene” from the most common form [“wild type”] in a particular population.)
What I fear most isn’t the use of genome information in predicting disease, but in identifying the harder-to-follow, multifactorial traits that are molded by genes and the environment: intelligence, personality, temperament and talents. Each gene contributes a small amount and to a differing degree to characteristics that aren’t as neatly predictable as the single-gene, Mendelian disorders like cystic fibrosis.
Will the idea of genetic determinism – that we are our genes – strengthen as the stockpile of genomic information swells through the population, beginning with the youngest? Will the practice become the ultimate example of paternalism, because newborns weren’t asked? As they age, can they choose not to know? Will that even be imaginable, as today it is difficult to envision a time without the Internet? Choosing not to know will be especially difficult if others have access to genome information. And who should those others be?
Annotated genome sequences could guide pediatricians in troubleshooting problems, providing a powerful new tool in preventive medicine. At the first birthday, a microbiome analysis might be added to identify children with tendencies towards certain conditions, or with underdeveloped immune systems due to too much cleanliness.
Beyond infancy, will availability of genome information fuel stratification as DNA information better predicts who is most likely to benefit from a scarce medical resource, and only the young have that information? Years from now, will I be denied a treatment unless I have my genome sequenced to show that I’m just as likely to benefit as a 20-year-old whose genome has been in the electronic medical record since birth?
In a few years, will posh preschools scan applicants’ genome information to select pupils? Will teachers use it to create compatible playgroups, or to identify bullies like the Tom Cruise film Minority Report punished future criminals? Will standardized test scores be compared to DNA data to deduce whether students are working up to their potential? Will employers look for genomic red flags, the way they stalk Facebook now for visual evidence of stupidity? I’ve already written about the fallacy of DNA-based dating.
I’m not sure where all this is heading, but it is coming. Newborn genome sequencing could happen within 5 to 10 years, experts have told me. At a conference April 8-10 at Children’s Mercy in Kansas City, several research groups already doing this work will address population-wide newborn genome sequencing. That’s a great start to what will certainly be an intriguing and important conversation. Ricki Lewis is a science writer with a PhD in genetics. She is author of The Forever Fix: Gene Therapy and the Boy Who Saved It (St. Martin’s Press), the college textbook Human Genetics: Concepts and Applications (McGraw-Hill Education), and co-author of two human anatomy and physiology textbooks. She has also published a short human genetics book, an essay collection, a novel about stem cells, and more than 3,000 articles. She writes the DNA Science blog at Public Library of Science and contributes regularly to Medscape Medical News. Ricki is a genetic counselor at CareNet Medical Group in Schenectady, NY, and teaches “Genethics” online for the Alden March Bioethics Institute of Albany Medical College. She lives near Schenectady, New York with husband Larry and many felines.
Posted in Bioethics, Biotech & Pharma, Civil Society, Personal genomics, Sequencing & Genomics, US Federal
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