NHGRI social and behavioral researcher Barbara Biesecker talks about the importance of family history in predicting disease risk for single gene disorders and complex genetic disorders. The singer and performer T-Boz shares her personal story about living with sickle cell anemia as one example of genetic health issues. Ms. Biesecker highlights the use of genetic testing and reasons whether or not to be tested. The career of a genetic counselor is highlighted. For more information and video presentation with slides please go to: www.genome.gov
Shivani N, Genetic Counselor and mother of twins
MaryEllen shares her thoughts on her genetic counseling session and the procedure she needed to insert a port for her remaining chemotherapy sessions.
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Prenatal testing such as the quad screen, is a very personal decision from patient to patient. It’s important that patients talk to their physician about the quad screen and whether or not it would be a good idea for her to have it or not. It is a very personal decision. It is a blood test that looks for a patient’s risk and it reports the risk of the baby having down syndrome and neural tube defects, such as spina bifida. It is not a yes or no answer, it is simply a risk determination and it is used as a screening test. So, it is important that the patient speaks with her doctor and talks about her risk factors first, whether it is family history or age. Based on that, it makes the decision whether to see a genetic counselor and makes a decision whether or not to have those screening tests that are available to her.
Learn more at fetalsurgery.chop.edu Once the spina bifida diagnosis is confirmed, mothers and fetuses undergo a variety of assessments and tests at CHOP to determine the nature and severity of the spina bifida defect and to help determine the spina bifida treatment that’s right for them. Learning your options after diagnosis is critical so you can receive the best care possible for you and your unborn child. CHOP’s Center for Fetal Diagnosis and Treatment team will assess the baby’s fetal condition and your appropriateness as a candidate for prenatal or postnatal spina bifida treatment. The development of spina bifida in utero surgery has changed the historical course of spina bifida treatment and the long-term outcomes. This video explores what families experience as they learn about treatment options and decide on the spina bifida treatment that’s right for them.
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Doctor: Well, he could have a problem that caused this miscarriage, so if she wants to know, she needs to bring him in to keep it from happening again..we can get a genetic counselor to test for any chromosomal abnormalities. Tara: *stills crying* Alexa..call Kendall..get him here. Alexa calls Kendall and tells him everything. He gets there as soon as possible and they start testing. They finish testing and the doctors come to a conclusion. Doctor: Looks like…there was a chromosomal abnormality..from the sperm side..which means..this could just be a one time thing..or it could be something that happens often.. Kendall: So, that means..this was all my fault? Doctor: Well, the baby didn’t have all 23 chromosomes from the father..so in a sense..yes, but it wasn’t something you could control. Kendall: I can’t believe I’ve done this.. He walks out into the parking lot and sits against the wall of the hospital. Tara, Alexa, and Logan walk out. Tara: *sees Kendall and looks over at Alexa and Logan* You guys can go..I’ll get a ride with Kendall.. Logan: Okay..see you. They leave. Tara walks up and sits by Kendall against the wall. Tara: You didn’t do this.. Kendall: Yes, I did. Tara: Kendall..like the doctor said..it wasn’t something you could control.. Kendall: *gets up and faces her*You know what? I must be a pretty suckish husband..I get you pregnant when you didn’t want to be..I give you miscarriage when you decide you are okay with being pregnant..I suck. Tara: *stands up …
When Allyson was diagnosed with aggressive breast cancer, Dr. Camal and Dr. Griffith sat down with her for almost an hour, explaining each option and answering every question. With the help of her doctors, Allyson decided on a double mastectomy followed by breast reconstruction, radiation and chemotherapy. Because she was under 45, she also met with a genetic counselor to determine her risk for recurrence. Today, Allyson’s breast cancer is in remission…and she’s back to the life she loves. www.meridiancancercarenj.com www.meridianhealth.com