Testing In New Mexico

1. Cystic Fibrosis Testing In New Mexico Scott Wexler Matt Hodge Class 3

2. Testing Recommendation Early testing for cystic fibrosis is strongly recommended. Lung function usually starts to decline in early childhood. Early treatment can improve quality of life and extend lifespan. Also can improve growth and lung function and reduce hospital stays Newborn screening is not the definitive diagnostic test for cystic fibrosis, but may indicate need for further testing to rule out/confirm a diagnosis. Hodge (www.nih.gov)

3. Caused by Mutation in the Cystic fibrosis transmembrane conductance regulator (CFTR) Gene and located on chromosome 7. The most common mutation is a deletion of three amino acids on Delta 508. However there are more than 1,000 possible mutations. Autosomal Recessive disease The normal function is to make is to act as a channel for the movement of water through the tissues, which is necessary for the normal function of the lungs and pancreas. Thus, when mutated there is a build up of mucus. Background http://ghr.nlm.nih.gov/gene/CFTR Wexler

4. Disease Characteristics • Symptoms of cystic fibrosis usually appear within the first year of life, but sometimes appear in late childhood or adolescence. • Signs include: foul-smelling, greasy stools; poor weight gain; distended abdomen from constipation or intestinal blockage, particularly in newborns; persistent coughing, wheezing, repeated lung infections, and repeated sinus infections. • Other signs of the disease are stunted growth and an excessively salty taste to the skin. • The predicted age of death for a person with CF is 37 years. However, with the introduction of many new treatments, the life expectancy of a person with CF is increasing to ages as high as 40 or 50. Hodge (www.mayoclinic.com)

5. Treatment • Treatment options include antibiotics (anti-inflammatory), chest physical therapy, exercise, or surgical procedures. • Early treatments can help extend and improve life, improve lung function, and reduce hospital stays. • Possibility of cheaper cost with early treatment, but nothing is certain. • Currently there is no cure, but scientist are working on gene therapy and organ transplantation to find a cure. Chest Psychical therapy http://www.cff.org/AboutCF/Testing and http://www.yourlunghealth.org Wexler

6. Disease Incidence and Demographics for New Mexico • Incidence= 1 out of 4000 people • Population=2,009,671 • 1/4000 = x/2,009,671 • 2,009,671 = 4000x • x=502.41 • 502 people will be affected with the disease • Incidence= 1 out of 3,500 Caucasians • 1 out of 17,000 African Americans • 1 out of 8,000 Hispanics • Caucasians: African Americans: Hispanics: • 1/3500 = x/ 858,800 1/17,000 = x/37,000 1/8000 = x/835,900 • 858,800 = 3500x 37,000 = 17,000x 835,900 = 8,000x • x = 245.37 x = 2.76 affected x = 104.49 affected • affected Caucasians African Americans Hispanics • 245 + 2 + 104 = 351 people in New Mexico will be affected. • It seems as though Caucasians are more at risk than any other ethnic group. Hodge (www.pamf.org/www.census.gov)

7. The initial test looks for elevated levels of Immunoreactive trypsinogen (IRT), and is used for infants who can’t produce enough sweat or if a child/adult have symptoms suggesting they have Cystic Fibrosis. Many false positives. If determined positive of the IRT test, the patient will take a sweat test; the most common and reliable test known the “Golden Standard”. 1 test cost around $270. The birth rate in 2008 was 99,459. $270 X 30,177 = $8,147,790-cost to test every newborn per year. Disease Testing and Cost http://www.cff.org/AboutCF/Testing/ and http://www.labtestsonline.org Wexler

8. Why Genetic Testing for Cystic Fibrosis is Crucial • It is strongly recommended to test for Cystic Fibrosis at birth. • With this disease, lung function will usually start to deteriorate in early childhood, and if it is caught early, treatment can be started to greatly improve quality of life. • Early testing and treatment will also reduce hospital stays and can add years to the lives of those with the disease. • Since Cystic Fibrosis usually appears in early-to-late childhood, it is best to catch the disease at its onset, so treatment can begin. • Genetic testing for newborns, at the mere cost of $270 per test, will help to identify those at risk, so that further testing can be done to determine if they have the disease. • Early testing is especially important in states like New Mexico, where the majority of the population is comprised of ethnic groups with a high incidence of the disease (Caucasians and Hispanics). Hodge

9. Work Cited • "Cystic Fibrosis." National Heart, Lung and Blood Institute. Web. 18 Nov. 2010. • "Cystic Fibrosis Foundation – Genetic Carrier Testing." Cystic Fibrosis Foundation - Home. Web. 21 Nov. 2010. • "Cystic Fibrosis: Symptoms." MayoClinic.com. Web. 19 Nov. 2010. • "Cystic Fibrosis: Treatments and Drugs." Mayo Clinic MayoClinic.com. Web. 21 Nov. 2010. • "CFTR - Cystic Fibrosis Transmembrane Conductance Regulator (ATP- binding Cassette Sub-family C, Member 7) - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 21 Nov. 2010. • "New Mexico." U.S. Census Bureau. Web. 21 Nov. 2010. • "Screening for Cystic Fibrosis." Palo Alto Medical Foundation. Web. 21 Nov. 2010. • YourLungHealth.org : We Inspire Healthy Lungs. Web. 21 Nov. 2010.