Genetics and genomics are terms your doctors may use when discussing health conditions and diseases due to your DNA.
When you're pregnant or expecting a baby, you'll likely be interested to know more about it. One way to learn about your baby is through genetic testing to see if they have any inherited conditions. Genetic testing can also help you learn more about your own health and risks for disease, specifically certain cancers.
If you or your baby might have a genetic or genomic condition, we're here to help.
Although genetics and genomics sound similar and are often discussed together, they're not the same. Both involve genes — the DNA that holds the instructions for the structures and functional parts of our cells and tissues.
Experts test and analyze your genes to help you and your doctors understand and make decisions about your health.
Experts study medical genetics and genomics to learn about:
The genomic and genetic medicine experts in the UPMC Center for Medical Genetics and Genomics are there for you and your family when you need answers.
Our medical geneticists and genetic counselors provide the following:
DNA is a long chain of molecules in every cell of your body that holds the code of your genes. Your genes tell your cells how to make and use proteins, the large molecules that make up much of our body.
Your genes determine physical traits like eye color, hair color, and height. They also give cells instructions for making the proteins that form your muscles, nerves, and tissues. These proteins tell your body's systems how to function.
Each person has thousands of individual genes. The code of these genes can change. Sometimes, these changes do nothing, but other times, they change how your cells, tissues, or organs work. Sometimes, this causes disease or increases your risk of disease.
Medical genetics is the study of your genes. Genetic specialists study your genes to learn if you may have inherited a genetic change from your parents. Inherited genetic mutations can cause disease directly or increase your risk of developing diseases, such as cancer.
Healthcare providers may take a sample of your blood, hair, or other cells to test your genes. Gene experts (geneticists) study these samples to learn about specific genes (or parts of genes) in your body.
A genetic expert will:
Your genome is all of the DNA in your body taken together. This includes the genes and the DNA that isn't part of a gene but has other functions, like telling a cell whether to use a gene.
Sometimes, genetic experts study your genome to learn how your genes interact. They may also study how a change in non-gene DNA makes your body make too much or too little of a gene.
Genomics also studies how your behavior and the environment you live in cause changes in your genes.
We use genetic testing to identify mutations that may affect your or your baby's health. We help get you the answers you need about many genetic conditions. These conditions may occur during pregnancy or develop during childhood or adulthood.
We also test for gene changes that increase your risk for cancer. Genetic testing can help diagnose certain blood cancers.
It can also give you information about how your body might react to medication.
There are benefits to genetic and genomic testing. You can use what you learn about your own or your baby's genetic make-up to make important health decisions.
Researchers continue to study medical genetics and genomics. Understanding genes and their health effects helps doctors develop new disease treatments.
Genomics research into how a person's genes affect their response to drugs (pharmacogenomics) leads to better, personalized treatment options.
UPMC genetic specialists provide genetic screening and diagnostic testing for many health conditions. Our expert genetic counselors help you interpret your test results to inform your decisions about your health.
If someone in your or your partner's family has an inherited disorder, our genetic counselors talk with you. We help you understand potential risks to your future children if you're considering starting a family. If doctors diagnose your child with a congenital disability or genetic disorder, we connect you with resources to manage your child's needs.
Our counselors also help you understand genetic differences or mutations that may affect your risk of developing:
Our laboratory specialists examine your samples to determine how genetic differences may affect your health.
We offer preconception and prenatal screening to determine if:
We also provide testing for adults. Our specialists determine if you have a gene mutation that puts you at greater risk for developing a health condition or disease. Our cancer genetics program tests for gene mutations that may increase your cancer risk.
This includes changes in these genes:
We may also recommend genetic testing to diagnose blood cancers like leukemia or lymphoma.
Genetic testing is done at the:
Specialists in the UPMC Pregnancy Screening Laboratory (UPSL) offer screening and diagnostic testing during pregnancy. These tests help you learn if your baby has or is at risk for a genetic disorder or congenital disability.
If prenatal testing indicates a potential genetic condition, your doctor may enroll you in the UPMC Fetal Diagnosis & Treatment Center (FDTC).
Medical genetics and genomics can help doctors decide how to treat you if you have certain cancers or genetic disorders. Genetic testing for medication gives your doctor important information about how specific drugs may work in your body. Understanding your unique genetic make-up means your doctor can design a personalized treatment plan.
The UPMC Center for Medical Genetics and Genomics is a highly trained team of geneticists and genetic counselors. Our team includes laboratory directors and genetic counselors who are certified and accredited by the American Board of Medical Genetics and Genomics.
We study and treat genetic disorders that may occur:
Our experts ensure you have the information you need to know your risk of developing certain diseases and genetic disorders. We help you understand genetic test results so you can make decisions that feel right for you and your family. Our team works with you and your doctors to make sure you have access to comprehensive knowledge about your genetic risk factors.
Last reviewed by a UPMC medical professional on 2024-09-05.
