Genetic testing and counseling
Modern genetics allows us to understand how genetic diseases are inherited based on DNA, genes and chromosomes.
Genetic specialists at UCHealth
Recent advances in the field of human genetics have greatly improved our knowledge of genetic conditions. The genetic specialists at UCHealth are experts at diagnosing and evaluating genetic conditions, and then working with you and your primary care physician to manage them.
UCHealth features the most advanced adult medical genetics program in the Rocky Mountain region. Our genetics teams work closely with patients and various medical specialists to diagnose and manage disease and/or risk for disease that have genetic links.
The adult genetics clinic in Metro Denver is one of the only clinics in Colorado staffed by experts in the genetic counseling/testing and specialists for management based on genetic results, including a variety of specialty clinics designed to provide comprehensive care for certain complex genetic conditions.
We’re also home to some of the most respected hereditary cancer genetic specialists in the country. These experts offer a range of advanced tests to help you make informed decisions about what’s best for you and your family regarding cancer risk(s) based on genetic findings and/or family history. If you need additional screening/management, UCHealth is home to the Cancer Genetics and Prevention Clinic, a unique specialty clinic that can serve as your one-stop-shop for all of your care needs based on your genetic and/or family history-based risk.
What are genetic tests at UCHealth used for?
Genetic testing analyzes DNA, genes and chromosomes to:
- Detect or diagnose disease.
- Assess your risk of developing certain diseases.
- Determine if you are an unaffected carrier for a genetic disease.
- Assess risk for your relatives carrying a genetic alteration that could affect their health.
- Evaluate for personalized treatments/medications and preventative care opportunities.
What are common genetic tests?
We offer a variety of different genetic testing methods that can assess for nearly any condition, including some of the more common:
- Diagnostic testing: Confirms or rules out suspicion for genetic conditions based on your symptoms.
- Examples: inherited arrhythmia (irregular heartbeat) and cardiomyopathy, Marfan syndrome, muscular dystrophy, adult intellectual disability, birth defects.
- Presymptomatic/predictive testing: Assess your risk of developing certain diseases.
- Examples: cancer predisposition, Huntington’s disease, hereditary hemochromatosis.
- Carrier Screening: Identifies whether you carry genetic alterations that do not affect your health but could manifest disease in your children.
- Examples: cystic fibrosis, sickle-cell anemia, spinal muscular atrophy.
- Prenatal testing: Detects genetic or chromosomal alterations in a developing fetus.
- Examples: down syndrome, trisomy 13/18, hemophilia, achondroplasia.
- Pharmacogenomic Testing: Analyzes how a person’s genetic makeup affects their response/tolerance to certain medications. This can help in creating personalized care plans for you.
What research studies are offered?
UCHealth has conducted some of the most advanced genetics research to help advance our understanding of genetic conditions and how to treat individuals and families who are affected.
Talk to your provider for research trial opportunities to learn about studies that are currently enrolling study participants. You can look for UCHealth’s current areas of genetics-related research, and focus your search by entering in key words such as “Genetics,” or by disease (i.e. “Lynch syndrome,” “Pulmonary Fibrosis”).
Currently our areas of research include hereditary cardiomyopathies, lysosomal storage disorders, polycystic kidney disease, chronic obstructive pulmonary disease, pulmonary hypertension, pharmacogenetics (how genetics influence response to medications), adult intellectual disability and rare genetic disorders.
