{"id":4608,"date":"2016-09-27T00:00:00","date_gmt":"2016-09-27T06:00:00","guid":{"rendered":"https:\/\/www.uchealth.org\/today\/2016\/09\/27\/whats-in-your-genes\/"},"modified":"2024-03-07T10:24:14","modified_gmt":"2024-03-07T17:24:14","slug":"whats-in-your-genes","status":"publish","type":"post","link":"https:\/\/www.uchealth.org\/today\/whats-in-your-genes\/","title":{"rendered":"What\u2019s in your genes?"},"content":{"rendered":"
<\/div>

Last summer, Natalie did something not many others do \u2013 at least not yet. She had her genome sequenced. It started simply, with a blood draw, about one-and-a-half teaspoons. It yielded, after extensive processing and analysis, the entire order of the compounds of acids, sugars and bases, known as nucleotides, that make up her DNA. Billions of these nucleotides, arranged in a sequence unique to Natalie, provided her hereditary blueprint.<\/p>\n

For all the information processed, Natalie (not her real name) received a report of only a few pages from Illumina, the company that did the sequencing. But within the report were many nuggets of information that she is using to make important decisions about her health care and personal life.<\/p>\n

For example, Natalie, who works on the Anschutz Medical Campus, now knows she has a genetic mutation that increases her risk of hemochromatosis<\/a>, a metabolic disorder that causes the body to retain too much iron from the diet. Without treatment to remove the excess iron from the blood, the condition can lead to cirrhosis and liver failure.<\/p>\n

Cellular truths<\/strong><\/p>\n

That\u2019s unlikely to happen now that she\u2019s aware of the risk. She\u2019ll get baseline blood work to check her iron levels and will monitor them over time, in consultation with her primary care provider. She\u2019ll avoid eating too much iron-rich food, like red meat, and will abstain from alcohol. If her iron levels get too high, Natalie can handle the problem relatively simply by periodically having a unit of blood removed.<\/p>\n

Along with discovering she has a gene known to cause disease, Natalie also found that she is a genetic carrier for cystic fibrosis (CF), which causes the cells to secrete thick, organ- and airway-plugging mucus. It\u2019s a devastating, life-shortening disease with few treatments available. While Natalie doesn\u2019t have CF, the knowledge that she is a carrier raises important questions. For example, if her significant other is also a carrier, the risk of bearing a child with CF increases dramatically.<\/p>\n

The discovery triggered thoughts and conversations about her reproductive decisions, Natalie said, particularly if her partner is a carrier for CF. This piece of knowledge she gained from the sequencing wasn\u2019t positive, obviously, but she said she\u2019s glad she has it.<\/p>\n

\u201cIt was the truth before the testing, and it\u2019s still the truth,\u201d Natalie said. \u201cIt made me think about what it means to have the disease, what to expect and the treatments that are available.\u201d<\/p>\n

The sequencing also led to what Natalie called some difficult conversations with her family members. Her older sister, for example, didn\u2019t want to know about \u201canything that is not actionable,\u201d such as a genetic variation linked to a disease like Alzheimer\u2019s. Her sister did get an iron test after learning about Natalie\u2019s increased risk of hemochromatosis and the link to it in their family\u2019s history.<\/p>\n

Reading the genes<\/strong><\/p>\n

Natalie didn\u2019t think through these and other questions alone. As part of her sequencing, she consulted with Matthew Taylor, MD, PhD<\/a>, director of the Adult Genetics Clinic<\/a> at University of Colorado Hospital and associate director of UCHealth\u2019s Center for Personalized Medicine. Taylor received a copy of the genome-sequencing report from Illumina, reviewed it and helped explain the findings to Natalie and answer her questions. She also met with Jean Jirikowic, MS, a genetics counselor who is coordinator for the Adult Genetics Clinic, to talk through the report and consider her options.<\/p>\n

Jirikowic emphasized that Natalie\u2019s experience is not the standard for those seeking genetic testing \u2013 at least for now. For one thing, she\u2019s healthy. The vast majority of people who get tested do so because of specific situations that raise questions: family history of a disease like Huntington\u2019s or various forms of cancer, for example; or \u201cconstellations of obscure signs and symptoms\u201d that have defied the efforts of specialists to explain, Jirikowic said.<\/p>\n

In addition, Natalie had her genome sequenced as part of an \u201cUnderstand Your Genome\u201d symposium hosted by the University of Colorado Anschutz Medical Campus and Illumina last June. She was one of a few individuals chosen for the sequencing, a process that is for now too expensive (although the cost has decreased significantly in the past decade) for most people.<\/p>\n

<\/div>\n

Instead, many people interested in a better understanding of their genetic makeup turn to services like 23andMe, which use genotyping rather than sequencing. Instead of providing a look at an individual\u2019s entire genome, genotyping examines pieces of DNA, giving clinicians a view of variations in nucleotides along specific points in the genetic sequence. These \u201csingle nucleotide polymorphisms<\/a>,\u201d or SNPs, can reveal genetic variants that might indicate increased risk of disease, for example, without going through the considerable time and expense of examining every nucleotide in the genome.<\/p>\n

The Center for Personalized Medicine, which is building a DNA biorepository on the Anschutz Medical Campus<\/a>, will use genotyping when the program starts, Taylor said, but he added that the center has plans for sequencing in the future.<\/p>\n

Partial pictures<\/strong><\/p>\n

Jirikowic and other genetic counselors meet with patients to work through the information they receive from such tests. Sometimes the considerations are clear. The discovery of mutations in the BRCA1 and BRCA2 genes, for example, significantly increase the risk of breast and ovarian cancer. But family history, lifestyle, ethnicity, environment and many other factors come into play as well, Jirikowic said.<\/p>\n

Even when the results of genetic testing are straightforward, Jirikowic added, they rarely if ever exist in a vacuum. They very often affect family members, as Natalie\u2019s example shows.<\/p>\n

\u201cAny testing can reveal risk to family members, and it\u2019s our responsibility and role as counselors to communicate that to patients,\u201d Jirikowic said. It\u2019s then up to the individual to decide what to do with the information, she said.<\/p>\n

\u201cWe\u2019re dealing with adults,\u201d Jirikowic said. \u201cIt\u2019s our job to be the messengers.\u201d<\/p>\n

Individuals who get the testing sometimes neglect to consider family history, an element Jirikowic and her fellow counselors also take pains to explore. \u201cPatients will sometimes say they didn\u2019t think family history was important,\u201d Jirikowic added. \u201cThey don\u2019t always share the information. But it\u2019s very important. It affects other family members.\u201d<\/p>\n

Natalie noted that she was aware that her grandfather had hemochromatosis and her mother had \u201csome variant of it,\u201d but \u201cno one ever asked me about my family history.\u201d Jirikowic covered it, however, during their consultations.<\/p>\n

No single solutions<\/strong><\/p>\n

The number of genetic tests available continues to grow and with it the caseload for Jirikowic, who along with two other colleagues see patients in the Adult Genetics Clinic (the Prenatal Diagnosis and Genetics Center and the University of Colorado Cancer Center have their own genetic counseling clinics). The number of visits to the Adult Genetics Clinic is up 28 percent thus far in fiscal year 2017 from the previous year, Jirikowic said.<\/p>\n

\n
\"\"
Multicolored rectangles are solid surfaces holding collections of DNA.<\/figcaption><\/figure>\n<\/div>\n

With increased volume and interest, however, comes occasional misunderstanding of what genetics can reveal about an individual\u2019s health, she said. Even the most sophisticated testing can offer only a better understanding of levels of risk. Individuals still can do much to improve or worsen their health through lifestyle choices or changes in their environment.<\/p>\n

\u201cThere can be fear based on misunderstanding of the results of genetic testing,\u201d she said. \u201cGenetics isn\u2019t everything. There is much more that comes into play.\u201d Moreover, patients with the same disease-linked genetic changes can experience different outcomes, Jirikowic said. In one the disease might appear at age 15, in another at age 45. In still another, the disease might not appear at all.<\/p>\n

\u201cIt\u2019s important in 2016 that we have realistic expectations of what the testing is telling us,\u201d Jirikowic said.<\/p>\n

At the same time, Natalie\u2019s experience offers a glimpse of the promise of genetic testing, Jirikowic stressed. With awareness of her increased risk of hemochromatosis, for example, she can choose to change her dietary habits and regularly monitor her blood-iron levels.<\/p>\n

\u201cShe can be proactive rather than reactive,\u201d Jirikowic said. Knowledge of that type, spread broadly across the health care system, has the potential for revolutionary change.<\/p>\n

\u201cThe testing helped me to know what to expect and defend against more effectively,\u201d Natalie said. \u201cI can also sleep better instead of wondering what\u2019s coming around the corner.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"

Last summer, Natalie did something not many others do \u2013 at least not yet. She had her genome sequenced. It started simply, with a blood draw, about one-and-a-half teaspoons. It yielded, after extensive processing and analysis, the entire order of the compounds of acids, sugars and bases, known as nucleotides, that make up her DNA. […]<\/p>\n","protected":false},"author":2143,"featured_media":18199,"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":[28,46,47,331],"class_list":["post-4608","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-innovative-care","tag-cancer-care-oncology","tag-dna-testing","tag-genetic-testing-and-counseling","tag-integrative-medicine"],"acf":[],"yoast_head":"\nWhat\u2019s in your genes? - UCHealth Today<\/title>\n<meta name=\"description\" content=\"Last summer, Natalie did something not many others do \u2013 at least not yet. 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