{"id":64769,"date":"2022-07-18T11:42:55","date_gmt":"2022-07-18T17:42:55","guid":{"rendered":"https:\/\/www.uchealth.org\/today\/?p=64769"},"modified":"2025-11-14T05:53:47","modified_gmt":"2025-11-14T12:53:47","slug":"biobanking-makes-genetics-fundamental-part-of-health-care","status":"publish","type":"post","link":"https:\/\/www.uchealth.org\/today\/biobanking-makes-genetics-fundamental-part-of-health-care\/","title":{"rendered":"Biobanking makes genetics a fundamental part of health care\u00a0\u00a0"},"content":{"rendered":"<div style=\"margin-top: 0px; margin-bottom: 0px;\" class=\"sharethis-inline-share-buttons\" ><\/div><figure id=\"attachment_64771\" aria-describedby=\"caption-attachment-64771\" style=\"width: 640px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-64771\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/07\/08143440\/Getty-biobank.webp\" alt=\"The Biobank provides DNA specimens for personalized medicine treatments and research. \" width=\"640\" height=\"427\" srcset=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/07\/08143440\/Getty-biobank.webp 800w, https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/07\/08143440\/Getty-biobank-300x200.webp 300w, https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/07\/08143440\/Getty-biobank-768x513.webp 768w, https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/07\/08143440\/Getty-biobank-150x100.webp 150w, https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/07\/08143440\/Getty-biobank-200x134.webp 200w\" sizes=\"auto, (max-width: 640px) 100vw, 640px\" \/><figcaption id=\"caption-attachment-64771\" class=\"wp-caption-text\">The Biobank provides DNA specimens for personalized medicine treatments and research. Photo: Getty Images.<\/figcaption><\/figure>\n<p>A fundamental financial concept is that banks should be well capitalized with diversified investment portfolios. These two elements are the foundation of their economic strength.<\/p>\n<div class=\"su-callout-box col-xs-12 col-sm-6 right\" style=\"background-color:#dce4e7; color:#2e3b44;\">\n<h4><strong>Participating in the biobank is easy. How to get started.<\/strong><\/h4>\n<ul>\n<li>Join the biobank by signing a consent form in your <a title=\"https:\/\/mychart.uchealth.org\/MYCHART\/Home\/LogOut?postloginurl=fdiredirect?webid=WP-24DrUuwClF4ynTbPmXC1i9PA-3D-3D-24EhON06K-2BLqQp50DkcIx9pHq8dYBDhlTG66G-2Fa-2BwyHc0-3D&amp;mobileaction=https%3A%2F%2Fexit.uchealth.org%2Fresearchopportunities\" href=\"https:\/\/mychart.uchealth.org\/MYCHART\/Home\/LogOut?postloginurl=fdiredirect?webid=WP-24DrUuwClF4ynTbPmXC1i9PA-3D-3D-24EhON06K-2BLqQp50DkcIx9pHq8dYBDhlTG66G-2Fa-2BwyHc0-3D&amp;mobileaction=https%3A%2F%2Fexit.uchealth.org%2Fresearchopportunities\" target=\"_blank\" rel=\"noopener noreferrer\" data-outlook-id=\"bd8fd289-8289-4087-a39b-569294b465ba\" data-auth=\"NotApplicable\" data-linkindex=\"0\">My Health Connection Account.<\/a><\/li>\n<li>You must be a UCHealth patient who is age 18 or older.<\/li>\n<li>After you sign up, during an upcoming visit that requires a blood draw, a medical provider will collect an extra vial of blood for the biobank.<\/li>\n<li>Learn more about\u00a0<a title=\"https:\/\/www.uchealth.org\/services\/biobank\/\" href=\"https:\/\/www.uchealth.org\/services\/biobank\/\" target=\"_blank\" rel=\"noopener noreferrer\" data-outlook-id=\"09067291-a022-44c7-a66c-6a892055e0d6\" data-auth=\"NotApplicable\" data-linkindex=\"1\">the biobank<\/a>.<\/li>\n<\/ul>\n<\/div>\n<p>In genetics, a different kind of bank must adhere to a similar set of principles in its own unique way.<\/p>\n<p>On the <a href=\"https:\/\/www.uchealth.org\/locations\/uchealth-at-university-of-colorado-anschutz-medical-campus\/\">Anschutz Medical Campus<\/a>, that\u2019s the <a href=\"https:\/\/www.uchealth.org\/services\/biobank\/\">Biobank<\/a>, which is part of the <a id=\"\" href=\"https:\/\/medschool.cuanschutz.edu\/ccpm\" target=\"_blank\" rel=\"noopener\">Colorado Center for Personalized Medicine<\/a>. The Biobank is a repository of DNA specimens from UCHealth and Children\u2019s Hospital Colorado patients. Researchers use the samples for research, genetic analysis and clinical care. The bank is one key element in efforts to advance personalized or precision medicine that aims to tailor medical care to the specific genetic makeup of patients.<\/p>\n<p>But as with the banks with teller windows and ATMs, the Biobank and other biorepositories like it need deposits \u2013 and the more the better, says <a href=\"https:\/\/www.uchealth.org\/provider\/david-kao-md\/\">Dr. David Kao<\/a>, medical director of the Colorado Center for Personalized Medicine. The deeper the biorepository, the greater the evidence on which to learn from and draw reliable conclusions about, for example, specific genetic mutations and the health conditions linked to them.<\/p>\n<p>\u201cThe fewer the people, the more generic the treatments,\u201d Kao said. \u201cThe more people, the more targeted or personalized are the treatments.\u201d<\/p>\n<figure id=\"attachment_64770\" aria-describedby=\"caption-attachment-64770\" style=\"width: 250px\" class=\"wp-caption alignright\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-64770 size-full\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/07\/08143435\/Biobank-1-David-Kao.webp\" alt=\"Dr. David Kao, medical director of the Colorado Center for Personalized Medicine.\" width=\"250\" height=\"343\" srcset=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/07\/08143435\/Biobank-1-David-Kao.webp 250w, https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/07\/08143435\/Biobank-1-David-Kao-219x300.webp 219w, https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/07\/08143435\/Biobank-1-David-Kao-109x150.webp 109w, https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/07\/08143435\/Biobank-1-David-Kao-200x274.webp 200w\" sizes=\"auto, (max-width: 250px) 100vw, 250px\" \/><figcaption id=\"caption-attachment-64770\" class=\"wp-caption-text\">Dr. David Kao, medical director of the Colorado Center for Personalized Medicine.<\/figcaption><\/figure>\n<p>In addition, Kao said, biobanks grow stronger as they diversify genetically. A repository that accurately reflects a community\u2019s makeup is well positioned to assist clinicians and researchers in serving that community. Call it a well-diversified genetic portfolio.<\/p>\n<p>For these reasons, Kao and his colleagues are working to reach out to UCHealth patients to encourage people to participate in the Biobank. In an interview with UCHealth Today, Kao explained what the Biobank is, how it operates, and how it benefits both patients and providers. He also addressed questions about how the Biobank protects patient privacy.<\/p>\n<h2><strong>What is the Biobank?<\/strong><\/h2>\n<p>The Biobank is essentially a large research study that aims to collect DNA specimens from a set of UCHealth and Children\u2019s Hospital Colorado patients who voluntarily agree to participate.<\/p>\n<h2><strong>What is the purpose of biobanking?<\/strong><\/h2>\n<p>The fundamental goal is to \u201cunderstand how genetics fits into everyday health,\u201d Kao said. \u201cWe can learn how patients\u2019 genes are associated with different facets of health, whether that is risk of developing certain conditions, or responses to treatment, or ways to prevent disease,\u201d Kao said.<\/p>\n<p>To do that, biobanks strive to increase the number of specimens in the repository. Doing so enriches the genetic diversity of the specimens. That, in turn, helps researchers and clinicians learn more about the unique characteristics of patients in different racial and ethnic groups, for example.<\/p>\n<p>\u201cA surprising amount of what we know about genes and diseases has come from a relatively narrow population of people \u2013 white males,\u201d Kao explained. \u201cThat is not the world, so we have discovered that the diversity that exists is important to study in order to know if the recommendations we are making are appropriate in different populations.\u201d<\/p>\n<h2><strong>Can\u2019t we get that information from other biobanks? Why is it important for UCHealth and its University of Colorado Anschutz Medical Campus partners to put resources into creating their own Biobank?<\/strong><\/h2>\n<p>There are several reasons that it makes sense to have a local biobank, Kao said.<\/p>\n<p>The first is that having a unique, local biobank helps with the practical goal of incorporating genetics into health care. The Biobank at the Colorado Center for Personalized Medicine contains samples and genetic information derived from UCHealth patients. That can enrich the knowledge their providers use to treat them.<\/p>\n<p>\u201cWe are able to assess how genetics are important to treating our patients here,\u201d Kao said. \u201cWe can tell providers what the best things to do are, with confidence that it applies to the person in front of them.\u201d<\/p>\n<p>For example, Kao said, Hispanics make up about 15% of UCHealth\u2019s patient population. Genetic information from a biobank of patients from, say, the United Kingdom, with a much smaller Hispanic population, would not make an ideal match.<\/p>\n<p>\u201cYou know you\u2019re going to miss something,\u201d he said.<\/p>\n<p>In addition, the Biobank specimen data links to a deep reservoir of clinical data stored in the Epic electronic health record (EHR), a capability many other institutions lack, Kao said.<\/p>\n<p>Finally, the Biobank is set up to return certain clinical results from DNA specimens to patients. \u201cTo our knowledge, we are the only biobank that does that,\u201d Kao said. \u201cGenetic research benefits everyone, but here you can get an individual benefit.\u201d<\/p>\n<h2><strong>How does that work? What are some specific ways the Biobank can help individual patients?<\/strong><\/h2>\n<p>There are three main ways that the Biobank can help individual patients, Kao said.<\/p>\n<p>First, there are a set of about 75 genes with \u201csignificant health implications,\u201d most notably breast and other cancers and heart failure caused by organ deterioration that begins at a young age.<\/p>\n<p>\u201cThese are conditions that the genetics community has said, \u2018If you see this, you really need to tell the person,\u2019\u201d Kao said.<\/p>\n<p>About 60 UCHealth patients with these genes have been identified, with about half so far contacted directly to notify them and help them make further decisions, he said.<\/p>\n<p>Second, data about genes that affect how certain medications work or don\u2019t work go directly into a patient\u2019s medical record in the EHR. If a provider tries to prescribe one of these medications, a message pops up with a warning about the patient\u2019s genetic risk.<\/p>\n<p>One example, Kao said, is statins, a frequently prescribed class of medications that protect against heart disease. In patients with a specific genetic abnormality, the drugs can cause muscle aches and soreness. Without understanding the genetic cause, the patient might stop taking the drug and increase their risk of heart problems. On the other hand, if the provider knows a specific drug has those side effects, they\u2019ll simply choose a different one.<\/p>\n<p>\u201cWe can make sure the person gets the medication they need without being misled by side effects,\u201d Kao said. He added that as of recently, the Biobank provides \u201cgenetically driven advice for all statins\u201d because they are so commonly prescribed.<\/p>\n<p>Third, genetic data has been used to flag other conditions, such as risk of hemochromatosis, or iron overload. The condition generally doesn\u2019t produce symptoms early, but over time, it can cause deposits of the mineral in the liver, heart and joints. A specific gene is usually present in people who have hemochromatosis, Kao said, although not everyone who has the gene will develop problems. But with knowledge of the gene, again embedded in the EHR, providers can advise patients to get screened early and, if necessary, get treatments, which are effective.<\/p>\n<p>\u201cWithout the genetic information, most patients wouldn\u2019t think to check about iron levels at an early age,\u201d Kao said.<\/p>\n<h2><strong>That sounds great, but if I donate a specimen, how do I know that my privacy will be protected?<\/strong><\/h2>\n<p>Specimens are protected through the same protocols used to store other research specimens across the University of Colorado Anschutz Medical Campus, Kao said. They are placed in tubes with no patient identifying information and stored in deep freezers behind \u201cmultiple locked doors, with access limited to very specific personnel,\u201d he added.<\/p>\n<h2><strong>What about the data that you get from the specimens? How do you protect that?<\/strong><\/h2>\n<p>\u201cThe data lives in a highly secured, cloud storage environment that is more secure than the electronic health record,\u201d Kao said. \u201cThe specific genetic data is stored without patient identifying information attached to it.\u201d<\/p>\n<h2><strong>You\u2019ve said that an advantage of the Biobank is that you can connect my genetic data back to my clinical record in the electronic health records. What if someone hacks the Biobank system? Isn\u2019t my health information at risk?<\/strong><\/h2>\n<p>It is true that for people with the specific genes discussed earlier (and others), the Biobank has a \u201cmatching process\u201d used to \u201cregenerate the connection\u201d between them and their samples, Kao said. \u201cSo we do have a path to trace genetic data back to an individual, because that is how we are able to put specific results back into the medical record.\u201d However, he added, that path \u201cinvolves several steps that are each secure in their own right.\u201d A hacker would have to breach all the systems involved and then know the protocols to rematch genetic data to an individual, and there are a number of safeguards to protect that from\u00a0 happening, Kao said.<\/p>\n<h2><strong>You\u2019ve mentioned that providers may use my genetic data in certain situations. Who else has access to it?<\/strong><\/h2>\n<p>Some researchers on campus use the results of the Biobank\u2019s analysis of DNA specimens, Kao said. Others may use samples for further testing in pursuit of their own research. But they have no access to patient-identifying information, he added.<\/p>\n<h2><strong>What about other organizations? Do they have access to Biobank data?<\/strong><\/h2>\n<p>Yes, some do. But, there is always rigorous protection of patient privacy, Kao said.<\/p>\n<p>\u201cWe collaborate with a number of national and international consortia of biobanks\u201d for research and innovation, he said. One purpose is to study conditions that might be seen infrequently in a place like Colorado or another state, region or country. With a much larger pool of biobank data, \u201cwe can make some conclusions\u201d about relatively rare conditions, Kao said.<\/p>\n<p><a href=\"https:\/\/www.gignouxlab.org\/\">Dr. Chris Gignoux<\/a>, director of research for the Colorado Center for Personalized Medicine, said the Biobank is part of consortia that include the Covid-19 Human Genetics Initiative, the <a href=\"https:\/\/www.globalbiobankmeta.org\/\">Global Biobank Meta-analysis Initiative<\/a>, and the <a href=\"https:\/\/twitter.com\/BRaVa_genetics\/status\/1510956722030055430\/photo\/1\">Biobank Rare Variant Analysis consortium<\/a>. Gignoux added that the Biobank works frequently with <a href=\"https:\/\/www.uclahealth.org\/precision-health\/atlas\">UCLA (ATLAS)<\/a> and <a href=\"https:\/\/icahn.mssm.edu\/research\/ipm\/programs\/biome-biobank\">Mount Sinai (BioMe)<\/a>, and is now collaborating with those two biorepositories on three major grants. The Biobank also shares data with the <a href=\"https:\/\/www.research.va.gov\/mvp\/\">Million Veteran Program<\/a> and <a href=\"https:\/\/www.vumc.org\/dbmi\/biovu\">Vanderbilt University (BioVU)<\/a>, among others, he said.<\/p>\n<h2><strong>If I want to participate, how do I do it?<\/strong><\/h2>\n<p>The simplest way is to sign in to your <a href=\"https:\/\/www.uchealth.org\/access-my-health-connection\/\">My Health Connection<\/a> account (or create one). Click the UCHealth Research Opportunities button on the main page to read more about the Biobank and view the consent form. After reading the form, you can sign it, decline to or elect to decide at a later time.<\/p>\n<h2><strong>If I consent to biobanking, what happens?<\/strong><\/h2>\n<p>At your next clinic or hospital visit that requires a blood draw, a provider will draw at least one extra tube of blood. Kao said the Biobank has started more recently to use saliva-based collection, and mailed out 250 kits in early June. \u201cWe may be ramping that up,\u201d he said.<\/p>\n<h2><strong>In sum, what is the benefit of participating in the Biobank?<\/strong><\/h2>\n<p>\u201cIt\u2019s important to be part of the research because the more different people that we have, both in terms of genes and their entire life course, the <a href=\"https:\/\/www.uchealth.org\/today\/5-reasons-why-participate-in-biobank-at-colorado-center-for-personalized-medicine\/\">better we can understand how to customize, select and choose with each person<\/a> how they want to treat disease or manage their health over time,\u201d Kao said.<\/p>\n<p>Kao added that as medical director of the Biobank, he wants genetic medicine to become an accepted part of all medicine. \u201cI want more patients and providers to be aware of it and expect it, just like getting your blood sugar checked,\u201d he said. \u201cPart of that is empowering patients to learn about and figure out how to use the Biobank, how it matters to them and how they want to engage with it.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"<p>A fundamental financial concept is that banks should be well capitalized with diversified investment portfolios. These two elements are the foundation of their economic strength. In genetics, a different kind of bank must adhere to a similar set of principles in its own unique way. On the Anschutz Medical Campus, that\u2019s the Biobank, which is [&hellip;]<\/p>\n","protected":false},"author":2143,"featured_media":64771,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"categories":[5],"tags":[9085,9104,47],"class_list":["post-64769","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-innovative-care","tag-biobank","tag-colorado-center-for-personalized-medicine","tag-genetic-testing-and-counseling"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.4 (Yoast SEO v27.4) - 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