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smarter informed consent protocols that safeguard patients’ health and privacy, but let humanity benefit from gathered data. Of the >6 billion DNA letters in a genome, very few can directly inform a person’s healthcare today—but the rest of those letters can help build a critical mass of knowledge on genetic variation that benefits everyone. As such, secure and productive sharing of genome and associated phenotype data has become a key topic at AGBT and similar meetings.
From one genome to many
Many AGBT talks will highlight how fast, cheap, and sensitive sequencing technology lets us peer deeper into the diversity of genomes around us – and, increasingly, within us.
Over the past decade, we’ve moved beyond thinking monolithically of ‘the’ human genome, recognizing that only by surveying how genomes vary do we learn how they shape our traits. Today, thousands of people’s genomes have been comprehensively sequenced, and much of our field’s buzz centers on new methods for making sense of the resulting data. One front worth watching is how we’re adapting methods for studying small families to the challenge of comparing genomes in huge pedigrees and other population samples, to assess kinship among thousands of people at once and, in so doing, help better understand disease heritability.
But just as sequencing has led us to think of our genomes at the population scale, it now points to the many genomes that each of us harbors. That’s clear first for tumors: clumps of our own cells whose genomes are distinctive in ways that let them divide dangerously fast. Many AGBT talks will look at those genomes—including how they vary within a tumor, and over time.
But other talks, likewise leveraging sensitive sequencing methods, will highlight how our internal genetic diversity extends further: to eggs and sperm, whose diversity carries on into future generations; to immune response cells, whose genomes programmatically rearrange; and to the foreign cells within us, including our thriving microbiomes, as well as cell lines derived directly from our mothers or children during gestation, which can, remarkably, live on for decades.
All these cells may play key roles—both positive and negative—in health. And, thanks to an embarrassment of technical riches, geneticists are starting to characterize their diversity with stunning precision. Look for early results next week, and ever deeper insights at AGBTs to come…