As mentioned in class, cystic fibrosis is an inherited genetic disorder which can easily be
detected by sequencing a person’s DNA coding for the CFTR protein. The DNA sequencing itself
is very accurate. Suppose it is 99.5% accurate. However, the missing amino acid is not the only
sequence that can cause the protein to malfunction. Suppose it accounts for about 80% of the cases of cystic fibrosis, while different sequences account for the remaining cases of cystic fibrosis. This was not known until more recently, as research into the disease developed. If we developed a test for cystic fibrosis, and we scored the test as positive only when the sequence matched that of people who were missing that amino acid (i.e. 80% of the time), then:

a. What is the sensitivity of the test? (80% or 99.5%)
b. What is the specificity of the test? (80% or 99.5%)
c. If cystic fibrosis affects 1 in 2000 Caucasians, and a Caucasian was tested at random for
the disease, what would be the positive predictive value? Explain to a patient what this
means in words someone who hadn’t had statistics could understand. (One sentence.)

d. What would be the negative predictive value? Explain to a patient what this means in words someone who hadn’t had statistics could understand. (One sentence.)
e. Without changing the sensitivity or specificity of this test, suggest a way could we improve its
positive predict value. Be specific to the disease of cystic fibrosis.

Please help with this question! I have no idea how to approach any of the parts!

Thanks a lot!

Sarah is a 9-year-old girl with cystic fibrosis. She has developed pneumonia again, and the doctors want to try a new medication along with a new type of breathing therapy to help deliver oxygen to her lungs. The new therapy must be done in a large, new medical center Sarah has never been to. Her mother will be unable to come in the treatment room with her, but she will be allowed to accompany Sarah up until the department waiting room.

My sister found out she has cystic fibrosis today. She said that she found out she has a portion of it and if her boyfriend has it too then there soon to be baby may have it. She wont stop crying and I want to know if this is that serious… and since she only has a dormant portion of the disease and its genetic.. if her or I could be affected by it’s symptoms. Thanks for your help I truely appreciate it.

My doctor just called and I have test positive as a cystic fibrosis carrier. We are still waiting on the results of my husband’s test. On top of this I have a mutation in my gene called a R117H. He said it may cause sterilization if this is a boy. I am having trouble finding any information written in lay men’s terms. Does anyone know any additional information? Has anyone had this? What is the likelihood that this will cause sterilization if it is a boy?

Thanks so much. I am trying not to worry, but I would like to be informed before they send me to a specialist…

I have a Dr. appt. tomorrow for a cystic fibrosis carrier test, and was wondering how it was down. im 23 weeks pregant and didnt find out til -2 weeks- ago. (sux ive beatin my self up mentally for this) i know ive missed out on tests and other check ups that needed to be done sooner. i was also wondering the kinds of tests others have gone through.
PLEASE I DONT NEED ANY -NEGITIVE- FEEDBACK!!!!!

I am nearly 15 years old, and i think i may have a mild case of cystic fibrosis because i have a few of the symptoms, but is it possible because of my age?X

Martin D. Fried MD Pediatric Gastroenterology & Nutrition 3200 Sunset AVe Ocean NJ (732)682-3425 www.HealthyDays.info

i need some guide line help for a paper i have to do for my class and i chose cf and i need some side subjects i can go off of like effects causes cures (i know there is no cure yet, but soon) and so on also i already have a few sources from my other questions and remember this is middle school level, not elementary high school or collage

thanks a billion!!!!1

Novartis associate David W. talks about the research being done at the Novartis Institutes for BioMedical Research (NIBR) to treat cystic fibrosis (CF). Alice suffers from CF and is hoping for a cure. Hear their story. To learn more about careers at Novartis, please visit Novatis.com. © 2010 Novartis AG

Everson’s Cystic Fibrosis Fund Raiser and Punch-A-Thon