{"id":41957,"date":"2021-09-15T09:01:25","date_gmt":"2021-09-15T15:01:25","guid":{"rendered":"https:\/\/www.uchealth.org\/today\/?p=41957"},"modified":"2023-07-03T12:25:50","modified_gmt":"2023-07-03T18:25:50","slug":"personalized-medicine-helps-patient-harness-helpful-genetic-information","status":"publish","type":"post","link":"https:\/\/www.uchealth.org\/today\/personalized-medicine-helps-patient-harness-helpful-genetic-information\/","title":{"rendered":"Personalized medicine helps patient harness helpful genetic information"},"content":{"rendered":"
<\/div>

Dr. Richard Altman considered the chart of his patient, David Clay, and also his personal experience as Clay\u2019s primary care physician at UCHealth Lone Tree Medical Center<\/a>. Over the past few months, Clay had been experiencing more nighttime anxiety. Altman considered the citalopram (Celexa) dose he had previously prescribed and decided there was room to boost it.<\/p>\n

As Altman keyed in the prescription order, a message popped up in UCHealth\u2019s electronic health record. The message informed Altman that Clay has a version of a gene called CYP2C19. That polymorphism \u2013 in automotive terms, same model, but with an automatic transmission versus a stick shift \u2013 meant that Clay\u2019s liver probably metabolized citalopram much faster than an average patient. That, in turn, meant that he would need a higher-than-average dose for the drug to have its normal effect. Altman was going to up the dose anyway, but the popup crystallized for both doctor and patient why prescribing a higher dose made sense.<\/p>\n

\"A
A technician prepares a sample for genetic sequencing at the Colorado Center for Personalized Medicine\u2019s Biobank. UCHealth has collected 85,000 biospecimens since the biobank commenced biospecimen collection in 2016. Photo courtesy of CCPM.<\/figcaption><\/figure>\n

Personalized medicine<\/h2>\n

This was a single alert, related to a single patient, in a single UCHealth clinic room one day in April 2020. It was also an early return on a major long-term investment<\/a> by UCHealth and the University of Colorado School of Medicine aimed at harnessing genetic information to develop new treatments and improve day-to-day patient care.<\/p>\n

That investment, announced in 2014, created what is today the Colorado Center for Personalized Medicine (CCPM) and its crown-jewel biobank<\/a> that holds 85,000 biospecimens and counting.<\/p>\n

Help somebody<\/strong><\/h2>\n

Every UCHealth patient is offered the option to contribute through My Health Connection<\/a>, and many already have. So far, 185,000 UCHealth patients have consented to contribute to the biobank. The 100,000-patient gap between consents and donors exists because biobank specimens are collected as part of an in-clinic blood draw the patient needs anyway. But some never do have blood draws in clinic \u2013 ophthalmology patients, for example. With others, those blood draws are rare. The CCPM is ramping up a campaign to collect saliva (an alternative source of genetic material) to close that gap.<\/p>\n

Clay was among those who signed up<\/a>, and a few years back, a routine blood draw yielded another sample for the Biobank\u2019s ultracold freezers.<\/p>\n

\"Dr.
Dr. Richard Altman<\/figcaption><\/figure>\n

\u201cI think the doc just asked if I would do it, because, at some point, it may help somebody,\u201d he recalled.<\/p>\n

The big idea behind personalized medicine is to feed artificial intelligence a buffet of genetic information from huge numbers of patients, have that AI tease out connections between genes and diseases, and then use those insights to develop therapies tailored to people with particular genetic characteristics. That work is underway, and it will take time.<\/p>\n

In the meantime, the CCPM is focusing on pharmacogenetics, which has to do with how our genes influence how we metabolize drugs. The CCPM started with CYP2C19.<\/p>\n

\u2018Huge factor\u2019<\/strong><\/h2>\n

One might think that a gene that encodes a liver enzyme responsible for breaking down roughly 10% of all human pharmaceuticals would have earned a name more compelling than CYP2C19, but so it is. Among the drugs it metabolizes include proton-pump inhibitors for stomach ulcers<\/a>, antidepressants, anticonvulsants, sleep aids, antimalarials, and drugs that inhibit viral replication. A different version of the gene can either slow down or speed up metabolism.<\/p>\n

In Clay\u2019s case, he consented and provided a biospecimen. That specimen was analyzed by a million-dollar Illumina gene sequencer. Citalopram was among the 10 CYP2C19-influenced drugs that the CCPM chose as initial targets for its feedback loop back to patients. The CCPM worked with UCHealth\u2019s Epic team to create an alert that popped up at just the right time so as not to distract or even annoy physicians who have faced a growing number of alerts with the transition to electronic health records. Those alerts then popped up for patients with polymorphisms that either sped up drug breakdown (as in Clay\u2019s case) or slowed it down (meaning a standard dose would become a larger dose than intended).<\/p>\n

Those alerts haven\u2019t happened often: 69 times in the past 18 months or so. But it\u2019s a start, and Altman, for one, believes it\u2019s a positive sign for the future of medicine. \u201cPrecision-medicine pharmacogenetics\u201d may sound like buzzword gobbledygook, but it can help answer pressing exam-room questions, Altman says.<\/p>\n

\u201c\u2019Why is my patient not responding to treatment?\u2019 Or, \u2018Why is my patient having such a serious reaction when I gave him a small dose?\u2019\u201d said Altman. \u201cIt\u2019s about having insight into a huge new factor that influences care, like gender, or age, or smoking status.<\/p>\n

In Clay\u2019s case, that popup provided peace of mind as to the reason for needing the higher dose. The medication wasn\u2019t failing; he was just processing it faster than most. And medication doses matter, Altman says, whether it\u2019s about improving cholesterol numbers, lowering blood pressure, or improving mood.<\/p>\n

\u201cFrom the doctor\u2019s perspective, you want to give the right dose \u2013 not more, not less \u2013 to get what the patient needs out of it,\u201d he said.<\/p>\n

On deck<\/strong><\/h2>\n

The CCPM isn\u2019t stopping with CYP2C19. Next up in its pharmacogenetics initiative is a gene called SLCO1B1<\/a>. Certain polymorphisms of this gene can cause muscle pain or worse in patients on certain statins \u2013 somewhere between 7% and 29% of them can experience what\u2019s known as statin-associated muscle symptoms (SAMS). An electronic-health-record popup related to statins could save patients a lot of pain.<\/p>\n

The Center is also looking to add variations of the gene DPYD<\/a> to its feedback loop. Certain flavors of that gene can slow down the breakdown of common chemotherapy drugs, resulting in higher risk of toxicity among cancer patients in treatment. Those investigations and others will soon benefit from a new generation of microarray chips<\/a> that will boost sequencing throughput by a factor of seven.<\/p>\n

The most important throughput for the biobank, though, is that of UCHealth patients who agree to contribute to the advance of medical science. Many patients want to contribute to the science as a way to contribute to the collective good and show appreciation for the care they have received.<\/p>\n

Some do benefit, of course \u2013 David Clay among them.<\/p>\n

\u201cIn my case, I did it because it might help somebody \u2013 and it came back and helped me,\u201d he said.<\/p>\n

To learn more or to sign up for the biobank at the Colorado Center for Personalized Medicine Biobank, visit\u00a0<\/em>https:\/\/www.uchealth.org\/services\/biobank\/<\/em><\/a>.<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

Dr. Richard Altman considered the chart of his patient, David Clay, and also his personal experience as Clay\u2019s primary care physician at UCHealth Lone Tree Medical Center. Over the past few months, Clay had been experiencing more nighttime anxiety. Altman considered the citalopram (Celexa) dose he had previously prescribed and decided there was room to […]<\/p>\n","protected":false},"author":23,"featured_media":41958,"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":[9085,138,4781,4135],"class_list":["post-41957","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-innovative-care","tag-biobank","tag-center-for-personalized-medicine","tag-research-in-health-care","tag-uchealth-primary-care-lone-tree"],"acf":[],"yoast_head":"\nPersonalized medicine helps patient harness helpful genetic information - 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He covered science and the environment for the Daily Camera in Boulder, Colorado, and has taught narrative nonfiction at the University of Colorado, where he was a Ted Scripps Fellowship recipient in Environmental Journalism. 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