Genetic Testing for Cystic Fibrosis. Dee Quinn, MS, CGC August, 2009. “Gene Testing Going Mainstream”. Cystic Fibrosis Gene Test Offered By Lauran Neergaard AP Medical Writer Monday, Oct. 1, 2001; 9:53 p.m. EDT
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Genetic Testing for Cystic Fibrosis
Dee Quinn, MS, CGC
Cystic Fibrosis Gene Test Offered
By Lauran Neergaard
AP Medical Writer
Monday, Oct. 1, 2001; 9:53 p.m. EDT
WASHINGTON –– Gene testing is going mainstream: Starting this month, tens of thousands of white Americans will be offered testing to see if they carry a gene mutation that causes cystic fibrosis even if no one in their family has the disease.
Sensitivity of Mutation Analysis
O'Sullivan, B, Freedman, S. Cystic Fibrosis. Lancet 2009; 373:1891-1904
Ratjen, F. Cystic fibrosis: Pathogenesis and future treatment strategies. Respir Care 2009; 54(5): 595-602.
for child born today with CF is 50
Moskowitz, SM, et.al. Clinical practice and genetic counseling for cystic fobrosis and CFTR_related disorders. Genet Med 2008; 10(12): 851-868
newborn screening in 11/07
or not to have screening
“It will be very important to see how this goes. Certainly it requires primary care providers to become more familiar with genetics than many of them have previously had occasion to do.”