By Sarah Witherington, Genetic Counselor
So in my previous blog posts we have discussed what genetic counselors are, what genetic counselors do, why genetic testing takes so long, and about a few other genetic diseases, but we haven’t really talked about why genetic testing is important. Or I guess more accurately, because genetic counselors are always concerned with being extremely accurate, my opinions on why genetic testing is important.
1.Genetic testing can help determine your course of treatment. Genetics is the “final frontier” in the medicine world, to steal from Star Trek and use my best William Shatner impersonation. So what do I mean by final frontier? Remember genetic testing for many genetic diseases hasn’t been around very long and genetic counselors have only been around since the 1970’s. This is probably one of the newest fields in medicine and one of the most promising. We are creating new treatments based off of what gene is mutated and even treatments that are specific to the exact mutation within a gene particularly in cancer treatment. That means genetically tailored chemotherapies that are specific to your tumor. And in the pediatric world, we have treatments for children with cystic fibrosis, a debilitating and often deadly lung disease that only works for children with specific mutations in the CFTR gene. This is the world of genetically personalized medicine and it’s already here in your clinics and hospitals.
- Genetic testing can help you determine your surveillance plan or your prophylactic surgery path. Example: you have a family history of Lynch Syndrome, which means you should begin colonoscopies starting your 20’s or 5 years prior to the earliest diagnosis of colon cancer. If you had genetic testing and were negative that would potentially mean your risk for colon cancer would go down to the risk of a normal Joe Schmoe off the street. And if you were positive, we would know your risks, we could determine the best surveillance methods, and help give you the best information regarding any prophylactic measures that are open to you. That’s a lot of information from a test.
- Genetic testing can also help determine screening measures for your family. We have discussed this before, genetics is a family affair, you are 50% your mom and 50% your dad after all. These tests results can be important for your aunts, uncles, cousins, 2nd cousins, your children and just about everyone else in your family.
- Genetic testing as a part of newborn screening. Any of you that have had children recently may not know this but all states run a test as soon as a child is born called the newborn screening. The test uses a hearing exam, a blood oxygen level, and few drops of blood to screen for around 30 genetic diseases that if not caught early and left untreated can cause irreparable damage to child and even death. These genetic diseases are screened for in this test were chosen because we have interventions for these particular conditions that can save the child. Without this important program in place many children would go undiagnosed and become extremely sick.
- Genetic testing in the prenatal period. One of the more controversial topics in genetics is the use of prenatal genetic testing. I am not going to get into the ethics and the controversy surrounding this but I did want to share an example where genetic testing can benefit an unborn child. When there are mutations in the RB1 gene children can be born with a specific type of tumor called a retinoblastoma. Retinoblastomas can destroy a child’s vision very shortly after birth if the tumor isn’t treated right away. If an unborn child is known to be at risk and tests positive for the gene mutation we can begin treatment very shortly after birth since every day counts with these tumors to preserve the child’s eye sight.
- Genetic testing can qualify you for clinical trials. There are several clinical trials out there for experimental treatments that patients can only qualify for if they have a positive genetic test.
- Genetic testing can qualify you for screening and prophylactic surgeries. Without genetic testing your insurance may not pay for the cost of the screening or the surgery.
- Genetic testing can give you peace of mind. I am not saying this is true for everyone, but having that negative result in your hand or even a positive can give people peace of mind that at least they know one way or another.
- Genetic testing can help scientists create cures and medicines. Obviously this should not be one of the main reasons you do genetic testing but it is certainly a bonus to having testing. We still don’t know everything about genetics and honestly I am not sure we ever will. The more people who have testing, the more that data gets shared, and the more researchers can have access to that information then the closer we can get to find cures or medicines for everyone. Sharing genetic data is an important topic in the genetics world right now and we all need to work together to further science.
- Genetic testing may save your life. I know, I know, save the most dramatic one for last. But I really do believe this is true. Genetic testing and results are scary. The idea that something is beyond your control is terrifying! I’m a melanoma survivor myself so I can understand the feeling that you have somehow lost control of your life or your body. But there is truth to the statement that genetic testing can save your life as well as the lives of others within your family. It can give you treatment options you may not have gotten before, it can allow you to have surgeries and screenings, and it can help children receive lifesaving treatments. Remember you are not alone, we are all in this world together, and there are support groups for every genetic disease out there.
If you should have more questions about genetic testing and genetic counseling, please check out the National Society of Genetic Counselors website at www.NSGC.org
Thanks all for taking the time to read this blog! If you have suggestions please send them our way!
As always, you can email Georgia at firstname.lastname@example.org and me at email@example.com.
Sarah Witherington grew up in Dallas, Texas and received her bachelor’s degree in Biochemical sciences from Louisiana State University in Shreveport, Louisiana. While studying at LSU, she worked in several research labs studying the genetics of subtropical ferns and Alzheimer’s disease. After graduation she worked in a molecular pathology and cytogenetics lab before attending Northwestern University where she received her Master’s degree in Genetic Counseling. Sarah is a board certified genetic counselor for Ambry Genetics with research interests in pediatric cancers, pheochromocytomas, paragangliomas, and whole exome sequencing. In what little spare time she has she reads fantasy fiction incessantly, shops online, and is currently trying to ignore how cold it’s getting in Chicago.
Medical Disclaimer: Information and resources on ihavelynchsyndrome.com should not be used as a substitute for professional medical care. You are urged to work with your medical care provider for answers to your personal health questions.