If the Human Genome Project (HGP) was an actual human, he or she would be a revolutionary whiz kid. A prodigy in the vein of Mozart. One who changed the biomedical universe forever as a teenager, but ultimately has much more to offer in the way of transforming mankind.<\/p>\n\n\n\n
It\u2019s been 20 years since scientists published the first draft of the human genome. Since its launch in the 90s, the HGP fundamentally altered how we understand our genetic blueprint, our evolution, and the diagnosis and treatment of diseases. It spawned famous offspring, including gene therapy, mRNA vaccines<\/a>, and CRISPR<\/a>. It\u2019s the parent to HGP-Write<\/a>, a global consortium that seeks to rewrite life.<\/p>\n\n\n\n Yet as genome sequencing costs and time continue to dive, the question remains: what have we actually learned from the HGP? After two decades, is it becoming obsolete, with a new generation of genomic data in the making? And with controversial uses such as designer babies, human-animal chimeras<\/a>, organs-in-a-tube, and shaky genetic privacy, how is the legacy of the HGP guiding the future of humanity?<\/p>\n\n\n\n In a special issue<\/a> of Science<\/em>, scientists across the globe took a deep dive into the lessons learned from the world\u2019s first biomedical moonshot. \u201cAlthough some hoped having the human genome in hand would let us sprint to medical miracles, the field is more an ongoing relay race of contributions from genomic studies,\u201d wrote<\/a> Science<\/em> senior editor Laura Zahn.<\/p>\n\n\n\n Decoding, reworking, and potentially one day augmenting the human genome is an ultramarathon, buoyed by potential medical miracles and fraught with possible abuses.<\/p>\n\n\n\n \u201cAs genomic data and its uses continue to balloon, it will be critical to curb potential abuse and ensure that the legacy of the HGP contributes to the betterment of all human lives,\u201d wrote Drs. Jennifer Rood and Aviv Regev at Genentech in a perspectives article<\/a> for the issue.<\/p>\n\n\n\n Big data projects are a dime a dozen these days. A global effort<\/a> to solve the brain? Yup. Scouring centenarians\u2019 genes to find those that lead to longevity<\/a>? Sure! Spitting in a tube to find out your ancestry and potential disease risks\u2014the kits are on sale for the holidays! Genetically engineering anything<\/a>\u2014from yeast that brew insulin to an organism<\/a> entirely new to Earth\u2014been there, done that!<\/p>\n\n\n\n These massive international collaborations and sci-fi stretch goals that we now take for granted owe their success to the HGP. It\u2019s had a \u201cprofound effect on biomedical research,\u201d said Rood and Regev.<\/p>\n\n\n\n Flashback to the 1990s. Pulp Fiction<\/em> played in theaters, Michael Jordan owned the NBA, and an international team decided to crack the base code of human life.<\/p>\n\n\n\n The study arose from years of frustration that genetic mapping tools needed better resolution. Scientists could roughly track down a gene related to certain types of genetic disorders, like Huntington\u2019s disease, which is due to a single gene mutation. But it soon became clear that most of our toughest medical foes, such as cancer, often have multiple genetic hiccups. With the tools that were available at the time, solving these disorders was similar to debugging thousands of lines of code through a fogged-up lens.<\/p>\n\n\n\n Ultimately, the pioneers realized we needed an \u201cinfinitely dense\u201d map of the genome to really begin decoding, said the authors. Meaning, we needed a whole picture of the human genome, at high resolution, and the tools to get it. Before the HGP, we were peeking at our genome through consumer binoculars. After it, we got the James Webb s<\/a>pace<\/a> telescope to look into our inner genetic universe.<\/p>\n\n\n\n The result was a human \u201creference genome,\u201d a mold that nearly all biomedical studies map onto, from synthetic biology to chasing disease-causing mutants to the creation of CRISPR. Massive global consortiums, including the 1000 Genomes Project, the Cancer Genome Atlas, the BRAIN Initiative, and the Human Cell Atlas have all followed in HGP\u2019s steps. As a first big data approach to medicine, before the internet was ubiquitous, HGP laid out a new vision for collaborative science by openly sharing data from labs across the globe\u2014something Covid-19 vaccines have benefited from.<\/p>\n\n\n\n Yet as with AOL, CDs, and Microsoft FrontPage, HGP may be a legacy product from a bygone era.<\/p>\n\n\n\n The first relatively finished reference genome was published in 2003. Yet two core questions at the heart of the HGP remain. One, what exactly should be considered a \u201ccomplete reference\u201d? Two, how can it be decoded to benefit humans?<\/p>\n\n\n\n \u201cReference\u201d is an ambiguous idea in the age of increasingly cheaper genome sequencing. The original reference was what science considered an \u201caverage\u201d human. It wasn\u2019t<\/a>, but the reference genome did focus on mapping the most common variants in a gene. Yet it\u2019s increasingly obvious that humans are wildly diverse in our genetic differences, which could\u2014for example\u2014have a say in our longevity.<\/p>\n\n\n\n \u201cCapturing the ever-growing genetic diversity of humans requires profiling a more diverse set of genomes,\u201d said the authors. \u201cUltimately, although highly useful, a single reference genome is inherently biased.\u201d Your genealogy results from consumer kits, for example<\/a>, could be on point or off base, depending on your race and the genetic background of their reference samples. For now, it\u2019s mostly people with European ancestry.<\/p>\n\n\n\n \u201cThe HGP and its legacy must serve humanity as a whole, not neglecting those who are currently underrepresented in biological research,\u201d the team said.<\/p>\n\n\n\n Then there\u2019s making sense of it. The HGP itself decoded the genome but didn\u2019t provide an understanding of it\u2014such as what genetic elements actually do, how they work together, and how they contribute to health and disease.<\/p>\n\n\n\n We\u2019re getting there, but slowly. We\u2019ve found genes that protect against Alzheimer\u2019s<\/a>, and genes that contribute to cancer and muscle disorders. Using a popular method called GWAS (genome-wide association study), scientists are increasingly capable of fishing out gene variants\u2014often hundreds at a time\u2014that play a role in more complex disorders such as autism. But teasing out how bucketloads of genes affect any disease remains difficult. With the rise of machine learning and AI, however, the authors said, we have a powerful tool to begin \u201cunpacking its secrets to affect health.\u201d<\/p>\n\n\n\n What\u2019s next? Thanks to ongoing massive whole genome sequencing<\/a> projects<\/a>, we could be shedding the veil of HGP\u2019s \u201caverage\u201d human and entering a new era of multiple reference genomes\u2014or even personalized ones. With this would come massive concerns around privacy. The Golden State Killer<\/a> case, though it had a \u201chappy\u201d ending in that it was ultimately solved, relied on a free and public genealogy database<\/a> that people may not have knowingly agreed to partake in. Unexpected findings related to long-lost relatives, a high risk of serious diseases, or our own heritage, especially if shared with third parties, could damage relationships or even overthrow our sense of self.<\/p>\n\n\n\n From the idea of a reference genome to a smorgasbord of genetic tools, HGP\u2019s legacy is here to stay. As we move towards a more \u201csnowflake\u201d era of genomics\u2014one that stresses individuality either for mixed-and-matched groups or individuals\u2014the original goal remains the same.<\/p>\n\n\n\n The project left us with a major mission, still relevant even 20 years later, the authors said. We need to better understand how to wield our genetic blueprints, both common and rare, to \u201cpromote human health and treat disease\u201d\u2014for all of humanity.<\/p>\n\n\n\n Image Credit:\u00a0Thor Deichmann<\/a>\u00a0from\u00a0Pixabay<\/a><\/em><\/p>\n\n\n\n Author:<\/strong><\/p>\n\n\n\n Shelly Xuelai Fan is a neuroscientist-turned-science writer. She completed her PhD in neuroscience at the University of British Columbia, where she developed novel treatments for neurodegeneration. While studying biological brains, she became fascinated with AI and all things biotech. Following graduation, she moved to UCSF to study blood-based factors that rejuvenate aged brains. She is the…\u00a0Learn More<\/a><\/p>\n\n\n\n Original Article<\/a><\/p>","protected":false},"excerpt":{"rendered":" If the Human Genome Project (HGP) was an actual human, he or she would be a revolutionary whiz kid. A prodigy in the vein of Mozart. One who changed the biomedical universe forever as a teenager, but ultimately has much more to offer in the way of transforming mankind. It\u2019s been 20 years since scientists […]\n","protected":false},"author":1,"featured_media":1667,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"episode_type":"","audio_file":"","podmotor_file_id":"","podmotor_episode_id":"","cover_image":"","cover_image_id":"","duration":"","filesize":"","filesize_raw":"","date_recorded":"","explicit":"","block":"","footnotes":""},"categories":[13],"tags":[28,29,40,41],"series":[],"class_list":["post-1666","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-articulos-ingles","tag-biotechnology","tag-biotecnologia","tag-genetica","tag-genetics"],"episode_featured_image":"https:\/\/singularityumexico.com\/wp-content\/uploads\/2021\/10\/dna-2371858_1280-2.jpg","episode_player_image":"https:\/\/singularityumexico.com\/wp-content\/uploads\/2023\/05\/11711533-1673157178559-89a95be153719-4-scaled.jpg","download_link":"","player_link":"","audio_player":false,"episode_data":{"playerMode":"dark","subscribeUrls":{"apple_podcasts":{"key":"apple_podcasts","url":"","label":"Apple Podcasts","class":"apple_podcasts","icon":"apple-podcasts.png"},"stitcher":{"key":"stitcher","url":"","label":"Stitcher","class":"stitcher","icon":"stitcher.png"},"google_podcasts":{"key":"google_podcasts","url":"","label":"Google Podcasts","class":"google_podcasts","icon":"google-podcasts.png"},"spotify":{"key":"spotify","url":"","label":"Spotify","class":"spotify","icon":"spotify.png"}},"rssFeedUrl":"https:\/\/singularityumexico.com\/en\/feed\/podcast\/the-feedback-loop-by-singularity","embedCode":"An Apollo Program to Decode Life<\/h3>\n\n\n\n
The Next Generation<\/h3>\n\n\n\n
\n\n\n\nScientists Completed the First Human Genome 20 Years Ago. How Far Have We Come, and What\u2019s Next?<\/a><\/blockquote>