Exome sequencing is a new genetic test that can find changes called variants in a person's genome. Perinatologist and medical genecist Mary Norton discusses that with recent discoveries in genetics we can now test for many more genetic conditions.
Refer to Fetal Treatment Center
Hi. My name is Mary Norton and I'm a paleontologist and geneticist here at the U. C. S. F. Fetal treatment Center. Today I'm going to talk about a genetic test called exam sequencing. Most people have heard of prenatal testing for conditions like Down syndrome. But with recent discoveries in genetics we can now test for many more genetic conditions. Some of these are more serious and can involve medical or physical conditions or learning differences. Others sometimes cause more minor conditions. For a few there are specific treatments that can approve the outcome for the baby exam. Sequencing is a new genetic tests that can find changes called variants within a person's genome. In other words in their genes. First let's take a look at our genome which is made up of D. N. A. We can think of our genome as a big book full of genetic instructions and the D. N. A. As the letters chromosomes are the chapters the genes are the paragraphs a few of the words are Exxon's. All of the Exxon's together are called the exam. The exam makes up just one or 2% of all of the genome but includes most of the information our body needs for normal health and development testing. The exam by sequencing lets us read the most important parts of the book of instructions. In other words. With exam sequencing we read just part of the genome. It's kind of like watching the highlights of a basketball game the next day rather than watching the whole game changes or variants in the eggs. Um or like mistakes or misspellings that can cause the body to develop incorrectly and may lead to genetic disorders. Exam sequencing is used to find a diagnosis or cause in Children or adults who have symptoms that might be from a genetic condition exam. Sequencing can be done during pregnancy. When a problem or difference in the fetus is seen by ultrasound and the doctor thinks there might be a genetic cause exam. Sequencing during pregnancy finds the cause about 10% of the time. In other words, for every 10 pregnant women who have the test will find an answer for one of them when we find a genetic cause. This can help patients make decisions about care during pregnancy and of the infant. After birth. Genetic information can also help providers to understand the prognosis or likely outcome for the baby and the chance of the same condition happening in another pregnancy. Sometimes treatment of the baby can start much earlier and the test can improve the outcome and can even sometimes save lives. At U. C. S. F. We have sequenced over 100 fetal genomes and this has led to important discoveries about rare diseases. These discoveries are helping UCSF scientists in the development of promising fetal treatments such as stem cell transplantation and enzyme replacement therapy. The test is sometimes offered to pregnant women when fetal differences or abnormalities have been seen by ultrasound, and the cause is not known in such cases, identifying a genetic cause can help guide further care and treatment of the mother and infant. It is hoped that this will lead to improved outcomes for families seen at U. C. S. F. In addition, participation in these important research studies will aid scientists understanding of fetal development and how to best care for complex pregnancies. Genetics and genomics are clearly the future of medicine, providing the newest genetic tests to our patients. Will move us one step closer to our goal of individualized and personalized medicine and care for each and every one of our patients.
