Will health insurance cover the costs of genetic testing? What are the benefits of genetic testing? What are the risks and limitations of genetic testing? What is genetic discrimination? Can genes be patented?
How are genetic screening tests different from genetic diagnostic tests? How does genetic testing in a research setting differ from clinical genetic testing? What are whole exome sequencing and whole genome sequencing? What are secondary findings from genetic testing? What is noninvasive prenatal testing NIPT and what disorders can it screen for? What is circulating tumor DNA and how is it used to diagnose and manage cancer? In cystic fibrosis , for example, finding a problem gene on chromosome number 7 can't predict whether a child will have serious lung problems or milder respiratory symptoms.
Also, having problem genes is only part of the story. Many illnesses develop from a mix of high-risk genes and environmental things, some of which a person can control. Someone who knows they carry high-risk genes might be able to make lifestyle changes to avoid becoming sick. Research has identified genes that put people at risk for cancer, heart disease, psychiatric disorders, and many other medical problems. The hope is to someday develop specific types of gene therapy to prevent some diseases and illnesses.
Gene therapy is being studied as a possible way to treat conditions like cystic fibrosis, cancer, and ADA deficiency an immune deficiency , sickle cell disease , hemophilia , and thalassemia. 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. There are tests that look at one gene, many genes, or all of your genes at one time.
An exome test looks at most of your genes. This test can be useful if testing one gene at a time is not an option. And it may be useful if your doctor is not certain which genes should be tested. If you have this test, you might learn about the cause of your condition.
You might also learn that you have other genetic conditions. For example, your doctor might be looking for the cause of an inherited nerve disorder. But the test could also show that you have an increased risk for cancer or heart disease. When you have an exome test, you can choose to get results from the ACMG list of genes along with other results that you requested.
The variant can increase the risk of developing Alzheimer disease, usually after age Some people have the variant but never get the disease. Others get the disease but do not have the variant. There are other genetic tests that are better at finding the cause for inherited Alzheimer disease. These tests might be useful if you or a close relative developed the disease before age 60, or if several relatives have the disease. If the disease occurs at an early age, it is more likely to be genetic.
In this case, testing might give you or your family useful information. Keep in mind that there is no known way to prevent Alzheimer disease. One reason for genetic testing is to learn if you have a genetic risk of the disease. This may help you or your family plan for the future.
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