{"id":3040,"date":"2026-07-15T15:32:09","date_gmt":"2026-07-15T15:32:09","guid":{"rendered":"https:\/\/americanvoiceofhealth.com\/index.php\/2026\/07\/15\/a-genetic-window-on-all-of-us\/"},"modified":"2026-07-15T15:32:09","modified_gmt":"2026-07-15T15:32:09","slug":"a-genetic-window-on-all-of-us","status":"publish","type":"post","link":"https:\/\/americanvoiceofhealth.com\/index.php\/2026\/07\/15\/a-genetic-window-on-all-of-us\/","title":{"rendered":"A genetic window on \u2018All of Us\u2019"},"content":{"rendered":"
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\n\t\t\tHealth\t\t<\/a><\/p>\n

\n\t\tA genetic window on \u2018All of Us\u2019\t<\/h1>\n
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\n\t\tMax Larkin\t<\/p>\n

\n\t\t\tHarvard Staff Writer\t\t<\/p>\n<\/p><\/address>\n<\/p><\/div>\n

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\n\t\t\t8 min read\t\t<\/span>\n\t<\/div>\n<\/p><\/div>\n

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\n\t\t\tBroad Institute researcher details U.S. biobank\u2019s value as global resource in study of roots of disease, health\t\t<\/h2>\n<\/header>\n
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Just as this country celebrated its 250th birthday, some geneticists were celebrating America, too.<\/p>\n

At the end of June, the National Institutes of Health announced its \u201cAll of Us\u201d Research Program had become<\/a> the world\u2019s largest database of integrated health and genomic information. The project, launched in 2015 under the Obama administration, aimed to collect comprehensive genetic information and health records from at least a million Americans. Eleven years later, they\u2019re approaching that goal, with 747,000 volunteers sharing their whole genomes, lifelong health records, or both.<\/p>\n

Comparable nonprofit efforts had already taken shape in the U.K., Canada, Germany, and Japan. But Alicia Martin<\/a> of the Broad Institute hopes the U.S. repository will be the most valuable resource of its kind for the study of disease\u2019s genetic and environmental roots, given the nation\u2019s size, diversity, and patchwork healthcare system.<\/p>\n

In this edited conversation with the Gazette, Martin explains the value of such a resource in a country that\u2019s home to over 342 million genomes and counting.<\/p>\n

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I know you didn\u2019t work on this project directly but what excites you about \u201cAll of Us\u201d?<\/strong><\/p>\n

No, I wasn\u2019t directly affiliated with the project. I would love to give some kudos to some colleagues \u2014 like Stacey Gabriel, Niall Lennon, Heidi Rehm, and the team they led at the Broad Institute \u2014 who\u2019ve done an enormous amount of work to generate this data, including the majority of the whole-genome sequencing.<\/p>\n

I\u2019m a population and statistical geneticist, so I work on large-scale biobanks around the world to understand the genetic, phenotypic, and social determinants of health that impact disease risk overall. So mostly I\u2019m excited as a researcher who\u2019s using the \u201cAll of Us\u201d database.<\/p>\n

It\u2019s been around a quarter-century since scientists \u2014 including Eric Lander, founding director of the Broad Institute \u2014 first \u201cmapped\u201d the human genome. How does a database like \u201cAll of Us\u201d build on that work?<\/strong><\/p>\n

We\u2019re way beyond where we were with the Human Genome Project. There, for $3 billion, we sequenced one genome \u2014 that\u2019s three billion base pairs of DNA. Here, we have the full genomes of over half a million individuals, deeply sequenced.<\/p>\n

And this is an incredibly comprehensive resource, so it also includes electronic health records that are longitudinal, allowing us to understand a disease\u2019s course and trajectories, rather than simply who has a disease now. And it includes multi-omic data.<\/p>\n

What does it mean for the bank to contain multi-omic data?<\/strong><\/p>\n

Well, in high school biology, you might have learned the central dogma that DNA makes RNA makes protein. Your DNA is fixed from birth.<\/p>\n

But other parts of the \u201cmulti-ome\u201d are dynamic. They change throughout your life course, and they differ depending on your cell types, what age you are \u2014 all sorts of things. So your multi-ome is a much more comprehensive capture of what\u2019s happening in your body at any given time.<\/p>\n

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\u201cA resource like \u2018All of Us\u2019 will be beneficial for treating everybody, even if a given discovery was made using a subpopulation in the bank.\u201d<\/p>\n<\/blockquote>\n<\/figure>\n

There are, by now, many biobanks operating around the world \u2014 the U.K.\u2019s is famous, for example. What is different about this one?<\/strong><\/p>\n

It\u2019s true that global biobanks are abounding, and each one is really a national treasure, given how much they can teach us about disease biology. You mentioned the UK Biobank, and that has an amazing amount of whole-genome sequencing, whole-exome, other multi-omic data as well, in addition to an incredible depth of electronic health records going back decades.<\/p>\n

But \u201cAll of Us\u201d has a unique focus on drawing on representative populations from the U.S. And the unique thing about the U.S. is that our ancestors come from all over the world. With that, we\u2019re able to identify novel biology that we wouldn\u2019t necessarily see if we were only studying populations in the U.K., say.<\/p>\n

One of the poster children of the genomic drug development pipelines is PCSK9 inhibitors, which lower LDL cholesterol levels. And they\u2019re a proof of the power of representative genetic study. They came out of discoveries for loss-of-function variants that were identified at much higher frequencies in African American populations, in a few thousand individuals in the Dallas Heart Study. It took far, far larger numbers of individuals of European ancestry to validate that loss-of-function finding in large biobanks elsewhere.<\/p>\n

So this is not necessarily just about knowing how to treat a specific subpopulation for specific diseases. In fact, a resource like \u201cAll of Us\u201d will be beneficial for treating everybody, even if a given discovery was made using a subpopulation in the bank.<\/p>\n

In many cases, the genetic mutations that increase risk of a disease are not sure things \u2014 the mutated gene may interact with other exposures or conditions so that the disease takes root, or it may not.<\/p>\n

Can a biobank heighten our level of granular understanding, to know about all that a given participant\u2019s life that might have caused or prevented health problems?<\/strong><\/p>\n

I think resources like this are so valuable because they\u2019ll push really hard on what we\u2019d call the \u201cexposomics\u201d space: In other words, all of the things you\u2019ve been exposed to in your life that, as you said, can combine with genetics to affect your total disease risk.<\/p>\n

For example, when we study proteomics \u2014 the proteins your body produces based on genetic instructions \u2014 we can develop a quantitative, objective measure of, say, how much you\u2019ve smoked over your life course, and how the cumulative biological load of that affects your overall disease risk. Same with alcohol use, or pollution exposure through PM2.5 measures.<\/p>\n

And in the end, you can integrate all of that information to try to understand better. And conversely, sometimes people can have very protective lifestyles or habits that mitigate their underlying genetic predispositions toward disease.<\/p>\n

We\u2019re interested not just in whether someone gets a disease, but whether and how that disease progresses, or whether they respond to therapeutics. And all of those things are to some extent informed by the new types of data that \u201cAll of Us\u201d has released.<\/p>\n

This would seem to have a new usefulness as gene therapies begin to become more commonplace.<\/strong><\/p>\n

Yes. We have these incredible examples of biomedical successes. Like Victoria Gray<\/a> \u2014 an amazingly brave woman, a sickle-cell patient \u2014 who got the first CRISPR gene-editing therapy. She underwent clinical trials with CRISPR editing in 2019, and that paved the way for Casgevy [a gene therapy used to treat sickle-cell disease and beta thalassemia, both inherited blood disorders].<\/p>\n

Or Baby KJ<\/a>, who had an incredibly rare mutation \u2014\u00a0one in more than a million babies \u2014\u00a0that is lethal in about half of infants. He had personalized CRISPR editing therapy that effectively cured him. He got to graduate from the NICU.<\/p>\n

But those involved millions of dollars of therapy for treatment of a single individual, and treatment that might only work in a subset of patients. \u201cAll of Us\u201d can help us quickly identify that subset of patients for a given disease, and we can turn it into a learning platform that teaches clinicians which patients they should be on the lookout for, to target these therapeutics to the patients who need the treatment and who will respond.<\/p>\n

You could see how a national biobank would be much easier to build in a country with a national health service of some sort: standardized forms, standard procedures, just one bureaucracy to deal with. How did this get done in the U.S., with its private healthcare providers, private and religious hospitals, not to mention the rural and military and Indigenous contexts?<\/strong><\/p>\n

The team of researchers behind \u201cAll of Us\u201d took electronic records as they were. And you\u2019re right \u2014 it\u2019s inherently incredibly messy in this country, which has a highly fragmented approach to healthcare. We have to take everyone at their word.<\/p>\n

But wherever people are getting care, that generates diagnostic and billing codes. And you can use billing codes to try to understand genetic predispositions to all sorts of diseases.<\/p>\n

For example, you know who has Type 2 diabetes, since that\u2019s been diagnosed in their health record previously. And I want to applaud participants, who were \u2014 I think \u2014 exercising a high degree of beneficence by allowing us to see their entire health records, sharing a lot of personal information. We owe them.<\/p>\n<\/div>\n\n","protected":false},"excerpt":{"rendered":"

Health A genetic window on \u2018All of Us\u2019 Max Larkin Harvard Staff Writer July 14, 2026 8 min read Broad Institute researcher details U.S. biobank\u2019s value as global resource in study of roots of disease, health Just as this country celebrated its 250th birthday, some geneticists were celebrating America, too. At the end of June, …<\/p>\n","protected":false},"author":1,"featured_media":3041,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"loftocean_post_primary_category":0,"loftocean_post_format_gallery":"","loftocean_post_format_gallery_ids":"","loftocean_post_format_gallery_urls":"","loftocean_post_format_video_id":0,"loftocean_post_format_video_url":"","loftocean_post_format_video_type":"","loftocean_post_format_video":"","loftocean_post_format_audio_type":"","loftocean_post_format_audio_url":"","loftocean_post_format_audio_id":0,"loftocean_post_format_audio":"","loftocean-featured-post":"","loftocean-like-count":0,"loftocean-view-count":36,"tinysalt_single_post_intro_label":"","tinysalt_single_post_intro_description":"","tinysalt_hide_post_featured_image":"","tinysalt_post_featured_media_position":"","tinysalt_single_site_header_source":"","tinysalt_single_custom_site_header":"0","tinysalt_single_custom_sticky_site_header":"0","tinysalt_single_custom_sticky_site_header_style":"sticky-scroll-up","tinysalt_single_site_footer_source":"","tinysalt_single_custom_site_footer":"0","footnotes":""},"categories":[37],"tags":[],"class_list":["post-3040","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-staying-healthy"],"_links":{"self":[{"href":"https:\/\/americanvoiceofhealth.com\/index.php\/wp-json\/wp\/v2\/posts\/3040","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/americanvoiceofhealth.com\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/americanvoiceofhealth.com\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/americanvoiceofhealth.com\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/americanvoiceofhealth.com\/index.php\/wp-json\/wp\/v2\/comments?post=3040"}],"version-history":[{"count":0,"href":"https:\/\/americanvoiceofhealth.com\/index.php\/wp-json\/wp\/v2\/posts\/3040\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/americanvoiceofhealth.com\/index.php\/wp-json\/wp\/v2\/media\/3041"}],"wp:attachment":[{"href":"https:\/\/americanvoiceofhealth.com\/index.php\/wp-json\/wp\/v2\/media?parent=3040"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/americanvoiceofhealth.com\/index.php\/wp-json\/wp\/v2\/categories?post=3040"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/americanvoiceofhealth.com\/index.php\/wp-json\/wp\/v2\/tags?post=3040"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}