{"id":72354,"date":"2023-10-27T11:08:00","date_gmt":"2023-10-27T17:08:00","guid":{"rendered":"https:\/\/www.uchealth.org\/today\/?p=72354"},"modified":"2025-11-14T05:52:13","modified_gmt":"2025-11-14T12:52:13","slug":"biobanks-personalized-medicine-unearths-disease-risk-pinpoints-problems-with-medications","status":"publish","type":"post","link":"https:\/\/www.uchealth.org\/today\/biobanks-personalized-medicine-unearths-disease-risk-pinpoints-problems-with-medications\/","title":{"rendered":"Biobank\u2019s personalized medicine unearths disease risk, pinpoints problems with medications"},"content":{"rendered":"<div style=\"margin-top: 0px; margin-bottom: 0px;\" class=\"sharethis-inline-share-buttons\" ><\/div><figure id=\"attachment_72351\" aria-describedby=\"caption-attachment-72351\" style=\"width: 640px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-72351\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2023\/10\/26143734\/Pam-Dyer-biobank-garden-web.webp\" alt=\"The biobank\u2019s identification of the TTR gene variant that caused Dyer\u2019s amyloidosis was only the first step. Photo by Joel Blocker for UCHealth.\" width=\"640\" height=\"426\" \/><figcaption id=\"caption-attachment-72351\" class=\"wp-caption-text\">The biobank\u2019s identification of the TTR gene variant that caused Dyer\u2019s amyloidosis was only the first step. Photo by Joel Blocker for UCHealth.<\/figcaption><\/figure>\n<p>An ambitious vision for personalized medicine has become a reality, as the case of Pam Dyer illustrates.<\/p>\n<p>The vision of a decade ago was to generate genetic data from UCHealth patients who agreed to participate in the <a href=\"https:\/\/www.uchealth.org\/services\/biobank\/\">Biobank at the Colorado Center for Personalized Medicine (CCPM)<\/a>, a partnership between UCHealth and University of Colorado Anschutz Medical Campus, and then use that data to identify specific genetic variants that could increase the risk of cancer, heart disease, and other health problems as well as issues with how patients process a variety of medications.<\/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>The reality for Dyer is a much-improved outlook. She\u2019s an athletic 65-year-old in Fort Collins whose Biobank-driven diagnosis of a rare genetic condition led to faster treatment than would have been otherwise possible.<\/p>\n<p>Dyer is one of more than 235,000 patients who have consented to provide a blood sample since the Biobank <a href=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2017\/02\/28144628\/center20for20personalized20medicine-1.pdf\">launched in 2014<\/a> with a $63 million investment from UCHealth and its Anschutz Medical Campus partners. Of those, more than 135,000 and counting have provided samples to the Biobank for analysis, and nearly 22,000 have received information about how their genetics may affect either their health prospects or their metabolizing of medications \u2013 that\u2019s called pharmacogenomics, or PGx.<\/p>\n<p>Dyer, who works in a biochemistry lab when not working out, walking, biking, paddleboarding, skiing, and doing other active pursuits, was enthusiastic about enrolling in the Biobank.<\/p>\n<p>\u201cI love genetics,\u201d she said.<\/p>\n<p>Little did she know that her contribution to the CCPM\u2019s wide-ranging research program would return the favor.<\/p>\n<figure id=\"attachment_72353\" aria-describedby=\"caption-attachment-72353\" style=\"width: 640px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-72353\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2023\/10\/26144038\/Pam-Dyer-biobank-bike-clean-web.webp\" alt=\"ATTR amyloidosis, now held in check through medications, isn\u2019t keeping Dyer off her bike (or paddleboard, or skis). Photo by Joel Blocker for UCHealth.\" width=\"640\" height=\"426\" \/><figcaption id=\"caption-attachment-72353\" class=\"wp-caption-text\">ATTR amyloidosis, now held in check through medications, isn\u2019t keeping Dyer off her bike (or paddleboard, or skis). Photo by Joel Blocker for UCHealth.<\/figcaption><\/figure>\n<h2><strong>Biobank finds a genetic variant with consequences<\/strong><\/h2>\n<figure id=\"attachment_72348\" aria-describedby=\"caption-attachment-72348\" style=\"width: 200px\" class=\"wp-caption alignright\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-72348\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2023\/10\/26143725\/Emily-Todd-biobank-web.webp\" alt=\"Emily Todd\" width=\"200\" height=\"249\" \/><figcaption id=\"caption-attachment-72348\" class=\"wp-caption-text\">Emily Todd<\/figcaption><\/figure>\n<p>Starting about a year ago, she just didn\u2019t feel well. She wondered if the fatigue and the heart palpitations that would go on for several minutes had to do with aging. But when she passed out on a walk, it became clear that something else was going on. She was undergoing tests guided by her primary care physician, <a href=\"https:\/\/www.uchealth.org\/provider\/stace-a-fritzler-md-family-medicine\/\">Dr. Stace Fritzler<\/a>, when she got a phone call from <a href=\"https:\/\/www.uchealth.org\/provider\/emily-todd-ms\/\">Emily Todd<\/a>, the lead genetic counselor at the Colorado Center for Personalized Medicine (CCPM). Todd said the Biobank\u2019s analysis of Dyer\u2019s sample had found a genetic result that could affect her health. Would she be interested in learning more?<\/p>\n<p>As of late September, Todd and colleagues had made over 350 such phone calls to patients whose Biobank samples had genetic variants that <a id=\"\" href=\"https:\/\/medschool.cuanschutz.edu\/cobiobank\/return-of-results\/disease-risk\/list-of-genes-analyzed\" target=\"_blank\" rel=\"noopener\">boost disease risk<\/a> and also have treatments for those diseases. The list of genes the Biobank analyzes is based on recommendations from the American College of Medical Genetics (ACMG), says Kristy Crooks, PhD, the CCPM Biobank\u2019s director. That\u2019s far from an exhaustive list of protein-coding human genes \u2013 they number about 20,000 \u2013 but it includes many genes associated with cancer risk, cardiovascular risk, and other conditions such as <a id=\"\" href=\"https:\/\/medschool.cuanschutz.edu\/cobiobank\/return-of-results\/other#ac-hereditary-hemochromatosis-hfe-0\" target=\"_blank\" rel=\"noopener\">hereditary hemochromatosis<\/a>. The list has grown over time and should continue to develop as medical researchers establish more and more gene-disease connections, Crooks says. One of the genes in that list is <em>TTR<\/em>, which can cause <a id=\"\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1194\/\" target=\"_blank\" rel=\"noopener\">hereditary transthyretin (ATTR) amyloidosis<\/a>.<\/p>\n<p>A genetic variant in the <em>TTR<\/em> gene may be benign \u2013 or it can trigger the production of sticky amyloid protein clumps that can gather in the heart and the nervous system. ATTR amyloidosis disproportionately affects people of color. The Biobank made a point of looking for it.<\/p>\n<p>\u201cPart of my motivation is trying to help level the playing field in terms of access to genetic information,\u201d Crooks said. \u201cOne way we could do that was by prioritizing <em>TTR<\/em>.\u201d<\/p>\n<p>Dyer is not a person of color, but when she told Emily Todd that she indeed would like more information on the result the Biobank discovered, it turned out to be <em>TTR<\/em>.<\/p>\n<figure id=\"attachment_72352\" aria-describedby=\"caption-attachment-72352\" style=\"width: 640px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-72352\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2023\/10\/26143736\/Pam-Dyer-biobank-standing-web.webp\" alt=\"Genetic results helped quickly pinpoint a genetic disease whose symptoms were starting to impact Pam Dyer\u2019s life. Early intervention has already made a big difference, and should slow its progression. Photo by Joel Blocker for UCHealth.\" width=\"640\" height=\"426\" \/><figcaption id=\"caption-attachment-72352\" class=\"wp-caption-text\">Genetic results helped quickly pinpoint a genetic disease whose symptoms were starting to impact Pam Dyer\u2019s life. Early intervention has already made a big difference and should slow its progression. Photo by Joel Blocker for UCHealth.<\/figcaption><\/figure>\n<h2><strong>Biobank&#8217;s disease risk discovery prompts medical options<\/strong><\/h2>\n<figure id=\"attachment_32266\" aria-describedby=\"caption-attachment-32266\" style=\"width: 200px\" class=\"wp-caption alignright\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-32266\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2020\/06\/02145254\/AmrutAmbardekar-tiny.webp\" alt=\"headshot of doctor who helps patients with heart failure caused by pregnancy.\" width=\"200\" height=\"257\" srcset=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2020\/06\/02145254\/AmrutAmbardekar-tiny.webp 300w, https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2020\/06\/02145254\/AmrutAmbardekar-tiny-234x300.webp 234w, https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2020\/06\/02145254\/AmrutAmbardekar-tiny-117x150.webp 117w, https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2020\/06\/02145254\/AmrutAmbardekar-tiny-200x257.webp 200w\" sizes=\"auto, (max-width: 200px) 100vw, 200px\" \/><figcaption id=\"caption-attachment-32266\" class=\"wp-caption-text\">Dr. Amrut Ambardekar, medical director of heart transplantation and cardiologist with the heart failure clinic at UCHealth University of Colorado Hospital at Anschutz Medical Campus.<\/figcaption><\/figure>\n<p>The Biobank\u2019s job was not done. Once a disease risk result is discovered and the patient asks to learn more, the Biobank creates a clinical-grade genetic result that is shared with the patient and their providers. Fritzler referred Dyer to <a href=\"https:\/\/www.uchealth.org\/provider\/amrut-ambardekar-md-cardiovascular-disease\/\">Dr. Amrut Ambardekar<\/a>, a University of Colorado School of Medicine cardiologist with expertise in cardiac amyloidosis. Dyer also saw neurologist <a href=\"https:\/\/www.uchealth.org\/provider\/dianna-quan-md\/\">Dr. Dianna Quan<\/a>, because sometimes ATTR amyloidosis can manifest in the nervous system.<\/p>\n<p>\u201cIt&#8217;s this sort of follow-up that really matters to patients,\u201d Crooks says.<\/p>\n<figure id=\"attachment_72349\" aria-describedby=\"caption-attachment-72349\" style=\"width: 200px\" class=\"wp-caption alignleft\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-72349\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2023\/10\/26143727\/Kristy-Crooks-web.webp\" alt=\"Kristy Crooks, PhD\" width=\"200\" height=\"257\" \/><figcaption id=\"caption-attachment-72349\" class=\"wp-caption-text\">Kristy Crooks, PhD<\/figcaption><\/figure>\n<p>\u201cWe provide top-quality care because we can take that patient from, \u2018Here are your results\u2019 to \u2018Here are your options,\u2019\u201d Crooks said \u2013 options that include referrals to diverse UCHealth specialists with expertise in these rare, genetically linked diseases.<\/p>\n<p>So it was with Dyer. Other patients\u2019 Biobank results arrive before symptoms do, giving patients the opportunity to work with their providers over the long term to learn about their risks, make lifestyle changes to aid in prevention, and to stay up to date about medical options for the best health outcomes, Crooks adds.<\/p>\n<p>In Dyer\u2019s case, imaging studies confirmed amyloid buildup, but also that her disease \u2013 which can cause electrical issues in the heart and <a href=\"https:\/\/www.nhlbi.nih.gov\/health\/cardiomyopathy\">cardiomyopathy<\/a> \u2013 was still in its early stages. Ambardekar prescribed tafamidis, a drug that delays ATTR amyloidosis disease progression.<\/p>\n<p>\u201cBecause we were able to catch this early, she\u2019s going to do quite well long-term,\u201d Ambardekar said. \u201cSometimes, if people are diagnosed too late in the game, the options are limited.\u201d<\/p>\n<figure id=\"attachment_72350\" aria-describedby=\"caption-attachment-72350\" style=\"width: 640px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-72350\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2023\/10\/26143730\/Pam-Dyer-biobank-bike-full-web.webp\" alt=\"Dyer contributed to the biobank because of an interest in genetics and a desire to help move medical science forward. Doing so turned out to be pivotal to her long-term health. Photo by Joel Blocker for UCHealth.\" width=\"640\" height=\"426\" \/><figcaption id=\"caption-attachment-72350\" class=\"wp-caption-text\">Dyer contributed to the Biobank because of an interest in genetics and a desire to help move medical science forward. Doing so turned out to be pivotal to her long-term health. Photo by Joel Blocker for UCHealth.<\/figcaption><\/figure>\n<h2><strong>Pharmacogenomics results feed into electronic health records<\/strong><\/h2>\n<p>The vast majority of those 22,000 participants with Biobank results have had to do with pharmacogenomics. The CCPM team this year added four new genes\/gene pairs to the three it already tracked. Those seven genes and gene pairs can impact how the body breaks down or transports dozens of drugs: chemotherapies for cancer treatment, cholesterol-lowering statins, antidepressants, proton-pump inhibitors to treat stomach ulcers, antifungals, antiseizure medications, pain medications, and anti-inflammatory medications among them. In some cases, a drug can be life-threatening to those with a genetic variant that, for example, makes it hard for the body to break it down.<\/p>\n<p>Pharmacogenomic results feed straight into the patient\u2019s electronic health record, and the patient is alerted to the variant as for any other My Health Connection test result.<\/p>\n<figure id=\"attachment_65370\" aria-describedby=\"caption-attachment-65370\" style=\"width: 200px\" class=\"wp-caption alignright\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-65370\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/08\/23102442\/christina-aquilante.webp\" alt=\"Cr. Christina Aquilante\" width=\"200\" height=\"200\" srcset=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/08\/23102442\/christina-aquilante.webp 300w, https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/08\/23102442\/christina-aquilante-150x150.webp 150w, https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2022\/08\/23102442\/christina-aquilante-200x200.webp 200w\" sizes=\"auto, (max-width: 200px) 100vw, 200px\" \/><figcaption id=\"caption-attachment-65370\" class=\"wp-caption-text\">Dr. Christina Aquilante<\/figcaption><\/figure>\n<p><a href=\"https:\/\/pharmacy.cuanschutz.edu\/about-us\/profile\/christina-aquilante\">Christina Aquilante<\/a>, a CU Skaggs School of Pharmacy professor and the CCPM\u2019s director of pharmacogenomics, says patients who have received Biobank results can <a href=\"https:\/\/medschool.cuanschutz.edu\/cobiobank\/return-of-results\/pgx\">contact the<br \/>\nBiobank<\/a> to connect with a pharmacist to discuss how these results may impact their care. She added that, while automated clinical decision support tools alert doctors and other providers to relevant drug-gene interactions at the point of prescribing, medical professionals can also consult with CCPM pharmacists through a secure chat.<\/p>\n<p>Taken together, Crooks says her 10-person team\u2019s work has led to something \u201cunlike any other Biobank in terms of its scale and the patient population we reach.\u201d<\/p>\n<p>One of those patients is certainly grateful.<\/p>\n<p>\u201cI would have been struggling with my primary care doctor trying to figure out why I was so tired, why my heart was racing, why I fainted while I was out walking,\u201d Dyer said. \u201cNow I can pinpoint what my symptoms are and why I\u2019m feeling them. It allows me to rest more \u2013 before, I pushed myself pretty hard. But now I give myself space. So it\u2019s perfect for me.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"<p>An ambitious vision for personalized medicine has become a reality, as the case of Pam Dyer illustrates. The vision of a decade ago was to generate genetic data from UCHealth patients who agreed to participate in the Biobank at the Colorado Center for Personalized Medicine (CCPM), a partnership between UCHealth and University of Colorado Anschutz [&hellip;]<\/p>\n","protected":false},"author":23,"featured_media":72351,"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":[9085,137,4781],"class_list":["post-72354","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-innovative-care","tag-biobank","tag-personalized-medicine","tag-research-in-health-care"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.4 (Yoast SEO v27.4) - 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