But some patients have had severe complications while receiving gene therapy. So the research is carefully controlled. Genetic treatments for some conditions are a long way off. But there is still great hope that many more genetic cures will be found. The Human Genome Project, completed in , identified and mapped out all genes about 25, carried in our human chromosomes. The map is only the start, but it's a very hopeful beginning.
Reviewed by: Larissa Hirsch, MD. Larger text size Large text size Regular text size. What Is Genetic Testing? To check for others, or if the screening blood test finds a possible problem, doctors may recommend amniocentesis or chorionic villus sampling: Amniocentesis is a test usually done between weeks 15 and 20 of a woman's pregnancy.
The doctor inserts a hollow needle into the woman's abdomen to remove a small amount of amniotic fluid from around the developing fetus.
The fluid is checked for genetic problems and can show the sex of the child. When there's risk of premature birth , amniocentesis can show how far the baby's lungs have matured. Amniocentesis carries a slight risk of inducing a miscarriage. Chorionic villus sampling CVS usually is done between weeks 10 and 12 of pregnancy.
Genetic testing — sometimes called genomic testing — finds changes in genes that can cause health problems. It's mainly used to diagnose rare and inherited health conditions and some cancers. Whole genome sequencing looks at all your genetic material at the same time not just part of it, as with other types of genetic test.
You will generally only be referred if you have a suspected genetic health condition or if you have a particular type of cancer. The British Society for Genetic Medicine has a list of organisations that offer information and support. The charity Genetic Alliance UK has more information about issues to consider before having a genetic test. If you decide not to have a genetic test, you will still receive care and support from healthcare professionals.
You may want to consider how the results of a genetic test may affect you and others in your family. Genetic tests are done using a blood or spit sample and results are usually ready in a few weeks. Because we share DNA with our family members, if you are found to have a genetic change, your family members may have the same change.
Clinical genetic tests are different from direct-to-consumer DTC genetic tests, which can give some information about medical and non-medical traits. Clinical genetic tests are ordered by your doctor for a specific medical reason. DTC tests are usually purchased by healthy individuals who are interested in learning more about traits like ancestry, responses to medications, or risk for developing certain complex conditions.
DTC test results can be used to make decisions about lifestyle choices or provide issues to discuss with your doctor. However, DTC tests cannot definitely determine whether or not you will get a disease and should not be used alone for decisions about your treatment or medical care.
There is no single genetic test that can detect all genetic conditions. Single gene testing. Single gene tests look for changes in only one gene. DNA is short for deoxyribonucleic acid. It contains the genetic instructions in all living things. Genetic tests analyze your cells or tissue to look for any changes in.
Genetic tests are often done on a blood or cheek swab sample. But they may also be done on samples of hair, saliva, skin, amniotic fluid the fluid that surrounds a fetus during pregnancy , or other tissue. The sample is sent to a laboratory.
There, a lab technician will use one of several different techniques to look for genetic changes. The physical risks of the different types of genetic testing are small. But there can be emotional, social, or financial drawbacks:. The decision about whether to have genetic testing is complex.
In addition to discussing the test with your health care provider, you can meet with a genetic counselor. Genetic counselors have specialized degrees and experience in genetics and counseling. They can help you understand the tests and weigh the risks and benefits. If you do get a test, they can explain the results and make sure that you have the support that you need.
The information on this site should not be used as a substitute for professional medical care or advice.
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