EVALUATION OF THE IMPACT OF A WEB-BASED EDUCATIONAL TOOL ON AWARENESS OF NEWBORN SCREENING AND CARRIER TESTING by Claire Ellen Harwd BA in Psychlgy, Saint Luis University, 2010 Submitted t the Graduate Faculty f Graduate Schl f Public Health in partial fulfillment f the requirements fr the degree f Master f Science University f Pittsburgh 2013
UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH This thesis was presented by Claire Ellen Harwd It was defended n April 2 nd, 2013 and apprved by Cmmittee Members: Elizabeth Gettig, MS, CGC Assciate Prfessr f Human Genetics C-Directr, Genetic Cunseling Prgram Graduate Schl f Public Health, University f Pittsburgh Beth Kladny, MS, CGC Genetic Cunselr, Magee Wmens Hspital Children s Hspital f Pittsburgh, University f Pittsburgh Medical Center Jhn Shaffer, PhD Assistant Prfessr f Human Genetics Graduate Schl f Public Health, University f Pittsburgh Thesis Advisr: Lakshmanan Krishnamurti, MD Assciate Prfessr f Pediatric Medicine, Department f Pediatric Medicine Prgram Directr, Hemglbinpathy Prgram Children s Hspital f Pittsburgh, University f Pittsburgh Medical Center ii
Cpyright by Claire Ellen Harwd 2013 iii
EVALUATION OF THE IMPACT OF A WEB-BASED EDUCATIONAL TOOL ON AWARENESS OF NEWBORN SCREENING AND CARRIER TESTING Claire Harwd, MS University f Pittsburgh, 2013 ABSTRACT Intrductin: There is cnsiderable lack f awareness f newbrn screening (NBS) amng patients in the prenatal setting. Only abut 20 states have designed specific educatinal materials n NBS that are distributed during pregnancy. Als, previus studies have shwn that African American wmen receiving prenatal care believe that screening fr sickle cell disease is beneficial, but they d nt persnally find themselves at an increased risk t have a child with sickle cell disease. T increase awareness f newbrn screening and carrier screening fr sickle cell disease, cystic fibrsis, and the thalassemias, we develped a website called My Baby s Health. This website prvides educatin n NBS and carrier screening that is tailred t the patient s ethnicity. The gal f this study is t evaluate this methd f educating pregnant wmen n newbrn screening and carrier testing. Methds: Wmen in their 1 st r 2 nd trimester f pregnancy were apprached t access the My Baby s Health website n a cmputer kisk at the clinic. They were encuraged t take brief surveys befre and after reading the infrmatin n the site. The pre-website survey asked questins n the patient s previus knwledge f sickle cell, cystic fibrsis, and the thalassemias, carrier testing, hw these cnditins are inherited, and hw newbrn screening is perfrmed. The fllw-up survey asked the same knwledge-based questins n the genetic cnditins and newbrn screening, as well as questins n the participant s pinin f the site. iv
Results: Twenty-five participants cmpleted bth pre-and pst-website surveys. Knwledge f NBS and carrier testing did imprve n the pst-test, and all individuals fund the website at least smewhat helpful. Cnclusin: The website is helpful in increasing knwledge f sickle cell disease, and all participants fund it at least smewhat useful. Hwever, ne f the main challenges is implementing this website int the wrkflw f a clinic s that it has maximum benefit. Using educatinal tls like this website may have a public health benefit by decreasing disparities in NBS services acrss the United States, since lack f awareness can lead t anxiety and failure t cmply with recmmendatins fr fllw-up. v
TABLE OF CONTENTS 1.0 INTRODUCTION... 1 1.1 MY BABY S HEALTH... 1 1.2 SPECIFIC AIM 1... 2 1.3 SPECIFIC AIM 2... 2 2.0 BACKGROUND AND SIGNIFICANCE... 3 2.1 NEWBORN SCREENING... 3 2.1.1 Overview... 3 2.1.2 Educatinal gap... 4 2.1.3 Integrating educatin int prenatal perid... 5 2.2 CARRIER TESTING... 6 2.2.1 Sickle cell disease... 6 2.2.2 Cystic Fibrsis... 7 2.2.3 Alpha Thalassemia... 8 2.2.4 Beta Thalassemia... 8 2.2.5 Perceptins f sickle cell disease and carrier testing... 9 2.2.6 Benefits f prenatal educatin n carrier testing... 10 2.3 PATIENT EDUCATION... 10 2.3.1 Cmputer Educatin... 10 vi
3.0 METHODS AND PROCEDURES... 12 3.1 PARTICIPANT RECRUITMENT... 12 3.2 CONSENT... 12 3.3 COMPENSATION... 13 3.4 PRE-AND POST-WEBSITE SURVEYS... 13 3.5 STATISTICAL ANALYSIS... 13 4.0 RESULTS... 14 4.1 PATIENT POPULATION DEMOGRAPHICS... 14 4.2 PRE- AND POST-WEBSITE SURVEYS... 16 4.2.1 Prir Familiarity with Genetic Cnditins and NBS... 16 4.2.2 Pst-test vs. Pre-test Perfrmance... 17 4.2.3 Test Perfrmance vs. Age... 19 4.2.4 Test Perfrmance vs. Having Previus Children... 22 4.2.5 Test Perfrmance and Other Demgraphic Factrs... 23 4.2.6 Opinin-based Questins... 25 5.0 DISCUSSION... 29 5.1 SPECIFIC AIM 1... 29 5.2 SPECIFIC AIM 2... 29 5.3 STUDY LIMITATIONS... 31 5.4 AREAS FOR FUTURE STUDY... 31 5.5 CONCLUSION... 32 APPENDIX A: SURVEYS... 34 APPENDIX B: IRB-APPROVAL... 39 BIBLIOGRAPHY... 41 vii
LIST OF TABLES Table 1. Pre-Test and Pst-Test Perfrmance (n=25)... 18 Table 2 Change frm pre-test t pst-test... 19 Table 3. Age vs. Test Perfrmance... 20 Table 4. Age vs. Test Perfrmance (adjusted fr having had previus children)... 21 Table 5. Age vs. Test Perfrmance (adjusted fr the number f previus children)... 22 Table 6. Previus Children vs. Test Perfrmance...22 Table 7. Race vs. Test Perfrmance... 24 Table 8. Relatinship Status vs. Test Perfrmance... 24 Table 9. Educatinal Backgrund vs. Test Perfrmance... 25 viii
LIST OF FIGURES Figure 1. Participants Educatinal Backgrund... 14 Figure 2. Study Ppulatin Relatinship Status... 15 Figure 3. Study Participants Number f Prir Children... 15 Figure 4. Participants' Ethnic Backgrund... 16 Figure 5. Participants Prir Familiarity with Genetic Cnditins and Newbrn Screening... 17 Figure 6. Pre-test vs. Age... 20 Figure 7. Pst Test vs. Age... 21 Figure 8. Satisfactin with amunt f infrmatin n website... 26 Figure 9. Clarity f Infrmatin n Website... 26 Figure 10. Helpfulness f Website in Understanding Genetic Testing and NBS... 27 Figure 11. Helpfulness in Discussing Genetic Testing with Prvider... 27 Figure 12. Recmmending Website t Others... 28 ix
1.0 INTRODUCTION There is a significant lack f awareness f newbrn screening in the United States [1]. T remedy this knwledge gap, the Genetic Alliance launched a website in September 2011 called Baby s First Test (www.babysfirsttest.rg), which gives patient-friendly infrmatin n the genetic cnditins included n the newbrn screening panel fr each state. This website als describes what t expect during the newbrn screening prcess and prvides resurces in the event a baby tests psitive fr a cnditin. With the supprt f Genetic Alliance, the website My Baby s Health was develped t serve as a patient resurce during the prenatal perid. The gal f this prject was t incrprate this website int the flw f a prenatal clinic and assess its efficacy in educating the prenatal ppulatin n newbrn screening and carrier testing. 1.1 MY BABY S HEALTH The My Baby s Health website (www.mybabyshealth.rg) is an educatinal tl that gives basic infrmatin n genetics, newbrn screening and carrier testing fr sickle cell disease, cystic fibrsis, and the thalassemias. The first pages f the website describe the functin f genes and hw genetic testing is perfrmed. The participant is then able t select as many ethnic backgrunds as she identifies with (African American, Asian, Caucasian, Hispanic r Sutheast Asian), and the website will prvide infrmatin n screening fr the genetic cnditins mst 1
cmmnly assciated with that ppulatin. Thse f Caucasian ancestry receive infrmatin n cystic fibrsis, and all ther ethnicities are presented infrmatin n sickle cell disease, alpha thalassemia, beta thalassemia, and cystic fibrsis. Clinical features f the genetic cnditins, what it means t be a carrier and autsmal recessive inheritance are all described. At the cnclusin f the website, a basic verview f newbrn screening is reviewed, describing hw the test is perfrmed and hw the results are handled. There is als a link t Baby s First Test, s that viewers can lk fr mre infrmatin specific t their state, including the specific genetic cnditins included n that state s panel. 1.2 SPECIFIC AIM 1 The first aim f this prject was t integrate the My Baby s Health website int the wrkflw f the prenatal clinic. 1.3 SPECIFIC AIM 2 The secnd aim f this prject was t evaluate the impact f the My Baby s Health website in educating pregnant wmen n the basics f newbrn screening and carrier testing. 2
2.0 BACKGROUND AND SIGNIFICANCE 2.1 NEWBORN SCREENING 2.1.1 Overview Newbrn screening is a mandatry public health prgram that began in the early 1960 s t identify genetic cnditins that pse a significant health risk if left untreated and fr which there is a treatment ptin available [2]. Phenylketnuria (PKU) was the first genetic cnditin t be screened fr after Rbert Guthrie develped the bacterial inhibitin assay t measure bld phenylalanine levels as well as the filter paper fr the bld spt test [3]. Over the years, newbrn screening has expanded t include a wider range f genetic cnditins. This testing is ideally cnducted between 48-72 hurs after birth by btaining a bld sample thrugh a heel stick. A hearing test is als part f the newbrn screening prcess. All states in the United States perfrm newbrn screening, but the specific regulatins and the cnditins included n the panel vary by state. In 2006, the American Cllege f Medical Genetics (ACMG) issued a statement recmmending 29 genetic cnditins that shuld be included n every state s newbrn screening panel [4]. This Recmmended Universal Screening Prgram (RUSP) is cmpsed f cnditins in the fllwing categries: hemglbinpathies, inbrn errrs f rganic acid metablism, fatty acid xidatin disrders, amin acid disrders, 3
and ther miscellaneus diseases including cngenital hypthyridism and cystic fibrsis [2]. States are nt required t abide by these recmmendatins but can use them t infrm their wn NBS practices. Since that time, the RUSP has expanded and includes 31 cre cnditins and 26 secndary cnditins as f December f 2012. In rder fr a disrder t qualify fr inclusin as a cre cnditin n the RUSP, testing shuld be feasible in 24-48 hurs after birth, have a treatment, and have a knwn natural histry. It has becme a key cmpnent f preventive pediatric medicine [5]. 2.1.2 Educatinal gap Since newbrn screening is mandatry, there is a cncern fr a lack f parental educatin. When cnsent is required fr a medical test, prviders are required t, at the very least, infrm parents that the test is being dne and t btain their permissin. The fact that NBS is mandatry des nt mean the same level f parental educatin is nt necessary, hwever data have shwn that NBS is ften nt discussed with parents [3]. It is well understd that parental educatin f newbrn screening is essential, and mst states have sme type f educatinal measures in place [6]. Brchures utlining basic infrmatin are a cmmn methd f educatin. Newbrn screening is a cmplex system, and parents shuld be made aware f the basic prcedures, significance f testing, pssible utcmes, and the need fr fllw-up with a psitive result [7]. Davis et al discussed the findings f a fcus grup f parents and prviders, which indicated that parents had very little familiarity with newbrn screening [8]. Almst n parents had heard the term newbrn screening, thugh sme recalled a heel stick test. Sme parents had heard f PKU, but were unaware that newbrn screening tested fr ther genetic cnditins 4
as well. Mst parents did nt recall being given educatinal materials n newbrn screening during the prenatal perid. Many said that they were given brchures after delivery, but few actually read them. [8] Bridging this educatinal gap is essential, as it has been suggested that if parents are aware f the purpse and prcess f screening, they may act mre prmptly if their child tests psitive [9]. Additinally, if parents have been infrmed that a psitive test result is nt diagnstic and requires cnfirmatry testing, it may help lessen the stress f a false-psitive result. Tluczek et al fund that parents whse newbrn had an abnrmal NBS result fr cystic fibrsis had higher anxiety if they had less knwledge f newbrn screening [10]. Finally, pen cmmunicatin n the prcess f newbrn screening is imprtant t prmte cnfidence in this prgram as a public health initiative, particularly because there has been recent debate ver the use f remaining bld spt samples fr research purpses [9]. 2.1.3 Integrating educatin int prenatal perid Apprximately 20 states require the distributin f newbrn screening educatinal materials during the prenatal perid [6]. Hwever, in many cases, materials are distributed at inpprtune times, such as after delivery [8]. The time perid after delivery, when parents are exhausted and fcused n the immediate needs f the newbrn, is nt ptimal fr a discussin n newbrn screening. There has als been evidence fr a disparity in educatin depending n sciecnmic status. Tluczek et al fund that mthers with a lwer incme were mre likely t receive newbrn screening infrmatin after delivery than thse with a higher incme [11]. Many studies have suggested that newbrn screening is best discussed prenatally, but it is frequently nt explained during that time perid [1, 7, 8, 12]. Faulkner et al. fund that nly 5
33% f prenatal care prviders discussed newbrn screening with their patients [1]. Cmmn factrs limiting this discussin were that prenatal prviders believed that pediatricians and ther hspital staff wuld be the nes t explain newbrn screening r that patients never inquired abut it. Hayeems et al. fund that prviders wh felt a respnsibility t discuss NBS with patients were three times mre likely t d s, and thse wh lacked the cnfidence t cunsel n NBS were 70% less likely t d s [12]. This data suggests that an educatinal tl, such as the My Baby s Health website, cntaining all the pertinent infrmatin n NBS culd help remve sme barriers t patient educatin and help prviders feel mre equipped t discuss screening with their patients. Having patients view the material during their clinic visit culd take sme f the respnsibility ff f the prenatal prviders when they meet with patients, especially thse wh d nt feel cnfident enugh t explain NBS. 2.2 CARRIER TESTING 2.2.1 Sickle cell disease Sickle cell disease (SCD) is an inherited disrder characterized by the prductin f sickled hemglbin. This cnditin is caused by bi-allelic beta-s mutatins in the HBB gene, which cdes fr the prductin f beta-glbin [13]. Thse with a mutatin n nly ne allele are cnsidered t have sickle cell trait (SCT). Sickle cell disease can als ccur if a beta-s mutatin is inherited frm ne parent and a different beta-glbin mutatin is inherited frm the ther parent. The mst cmmn examples f this cmpund heterzygsity are sickle cellhemglbin C disease and sickle beta-thalassemia. Cmmn features in affected individuals 6
include severe hemlytic anemia, pain crises, suppressed immune system, strke, and rgan/tissue damage, especially f the lungs, bnes and kidneys [13]. This cnditin is particularly prevalent in thse f African, Suth American, Central American, Saudi Arabian, Indian, and Mediterranean descent [14]. The Center fr Disease Cntrl (CDC) estimates that between 90,000 and 100,000 Americans are affected by SCD, and it ccurs in 1 ut f every 500 Black r African-American births [14]. Apprximately 1 in 12 African Americans has sickle cell trait [14]. Testing t determine if smene has SCT is perfrmed using hemglbin electrphresis, which detects variatins in types f hemglbin in the bldstream. 2.2.2 Cystic Fibrsis Cystic Fibrsis (CF) is a multi-system disease that primarily affects the epithelial cells f the respiratry tract, hepatbiliary system, pancreas, intestine, and male genital tract [15]. It is an autsmal recessive cnditin caused by mutatins in the CFTR gene, which cntrls the chlride channels f a cell. Imprvements in treatment have increased the life expectancy f smene with cystic fibrsis t be abut 37 years [15]. Cystic fibrsis is amng the first genetic cnditins t have a screening test fr carrier status in the general ppulatin. It is mst cmmn in thse f Caucasian r Ashkenazi Jewish descent, with carrier frequencies f 1:28 and 1:29 respectively [15]. The ACMG has published screening guidelines that recmmend screening the general ppulatin with a panel f 23 CFTR mutatins [16]. 7
2.2.3 Alpha Thalassemia Alpha thalassemia is an autsmal recessive hemglbinpathy that causes micrcytic hypchrmic anemia [17]. It is mst prevalent in thse f Mediterranean, Suth-East Asian, African, Middle Eastern, and Indian ancestry [18]. There are tw clinically significant presentatins: hemglbin Bart hydrps fetalis (Hb Bart syndrme) and hemglbin H disease. Hb Bart syndrme is the mst severe frm f alpha thalassemia and typically is fatal in the nenatal perid. Hemglbin H disease is typically assciated with anemia, mild jaundice, hepatsplenmegaly, and sme bne abnrmalities [17]. 2.2.4 Beta Thalassemia Beta thalassemia is a bld cnditin characterized by reduced prductin f hemglbin, causing micrcytic hypchrmic anemia [19]. There are tw main classificatins: majr and minr thalassemia. Thalassemia majr usually presents within the first 2 years f life, with symptms including failure t thrive, jaundice, and enlarged spleen and liver. This cnditin can als cause bne defrmity and delayed puberty. Thalassemia intermedia is less severe and typically manifests later in life. Symptms can include anemia, bne changes, and hepatsplenmegaly. Beta thalassemia ccurs mst frequently in thse frm Mediterranean cuntries, Nrth Africa, the Middle East, Indian, Central Asia, and Sutheast Asia. 8
2.2.5 Perceptins f sickle cell disease and carrier testing Previus studies have suggested that the African American cmmunity perceives sickle cell as a serius disease, but individuals generally d nt believe they have a significant risk t have a child with that cnditin. Further, there is relatively lw uptake f educatin f sickle cell disease. Sme barriers t this educatin include a desire fr avidance, since sme believe that nt thinking abut genetic cnditins makes it less likely fr them t ccur [20]. Lng and clleagues cnducted a fcus grup f African American individuals t elucidate their perceptin f SCD and SCT, as well as carrier testing and newbrn screening [20]. That study fund that there is a perceived benefit t carrier testing and newbrn screening, because f the value in being aware f a child having a medical cnditin in advance and having the ptin t chse whether t cntinue a pregnancy. In the African American cmmunity, it is cmmn t rely n persnal r secndhand experiences when understanding the genetics f sickle cell disease [20]. Using friends and family as the primary surce f infrmatin increases the chance f being misinfrmed. Further, it has als been shwn that African-American wmen were 50-70% less likely t use health infrmatin resurces such as news media and cmputers [21]. Increasing the utilizatin f health resurces, such as websites like My Baby s Health, can reduce the likelihd f individuals being misinfrmed abut genetics and specific genetic cnditins. 9
2.2.6 Benefits f prenatal educatin n carrier testing As with newbrn screening, educatin n carrier testing has been suggested t imprve fllwup if a carrier test cmes back psitive. Generally, the fllw-up rate fr thse with sickle cell disease, sickle cell trait, and ther hemglbinpathies ranges between 35 t 60 percent in the United States [22]. Ptential factrs that hinder fllw-up include anticipatry anxiety, guilt, and denial f having a child with a health prblem. It has been shwn that educatin during the prenatal perid imprves fllw-up fr thse with sickle cell trait [22]. 2.3 PATIENT EDUCATION 2.3.1 Cmputer Educatin Cmputer educatin has emerged as a way t make medical infrmatin mre accessible t patients in a mre cst-effective way. These cmputer prgrams can be mre interactive than paper materials, allwing patients t have strnger imprvement in knwledge and t have mre invlvement in medical decisin-making [23]. Individuals have differing baseline levels f knwledge, s it can be challenging t develp a prgram that is apprpriate fr a wide range f peple. Multiple studies have fund that thse frm rural areas and a lwer sciecnmic status tend t respnd well t cmputer-based educatin, suggesting that the My Baby s Health website culd be a useful tl t educate that ppulatin [23]. Learning frm a website allws individuals t read thrugh the infrmatin at their wn pace, which can be beneficial fr thse with lwer literacy skills. Keulers et al fund that retained knwledge may be even higher fr 10
thse wh were educated thrugh a cmputer rather than by a prvider, and that patient satisfactin was equal fr bth methds [24]. 11
3.0 METHODS AND PROCEDURES 3.1 PARTICIPANT RECRUITMENT Participants were recruited frm the Outpatient Clinic at Magee-Wmen s Hspital f University f Pittsburgh Medical Center frm August 2012 t February 2013. Wmen wh were in their first r secnd trimester f pregnancy at their first bstetrical visit were eligible. They were apprached after having their bld wrk drawn at the end f their clinic visit. They were taken t a cmputer kisk in the clinic with a link t the My Baby s Health website. Exclusin criteria included wmen wh were under the age f 18, did nt speak r read English, r were incarcerated. 3.2 CONSENT Befre taking the surveys, participants can read thrugh a paragraph describing the gal f the study. The paragraph states that their participatin is vluntary and that they may withdraw at any time. There were n freseeable risks t cmpleting the surveys. Cntact infrmatin fr study persnnel was prvided. See Appendix A fr the cnsent paragraph. 12
3.3 COMPENSATION Participants were ffered a free water bttle after viewing the website if they cmpleted bth surveys. 3.4 PRE-AND POST-WEBSITE SURVEYS The pre-website survey was cmpsed f ne questin asking which genetic cnditins the participant had heard f, six knwledge-based questins and six questins n demgraphic infrmatin. The pst-website survey had the same six knwledge-based questins, as well as five pinin-based questins n the helpfulness f the website. Surveys were taken annymusly. See Appendix A fr the survey questins. 3.5 STATISTICAL ANALYSIS The knwledge-based prtin f the survey results was analyzed using nn-parametric tests t determine if participants had imprved perfrmance n the pst-website test. Nn-parametric tests were used under the assumptin that the data wuld nt fllw a nrmal distributin. Test scres were als cmpared with age and number f ther children t evaluate the effect f thse factrs. Finally, the data were stratified by race t determine if there is any evidence suggestive f culture bias in the website. Other demgraphic data including educatin level and relatinship status were als evaluated in their relatinship with test scres. 13
4.0 RESULTS A ttal f 34 wmen tk the pre-website survey, and 31 tk the pst-website survey. Twentyfive tk bth surveys. Statistical analyses were cnducted nly n thse wh cmpleted bth surveys. 4.1 PATIENT POPULATION DEMOGRAPHICS Out f the 25 participants wh tk bth surveys, the age range was frm 18-36, with a mean age f 22.8 years. Figures 1-4 belw describes the educatinal backgrund, relatinship status, number f previus children, and ethnic backgrund f thse wh cmpleted the surveys. Figure 1. Participants Educatinal Backgrund 14
Figure 2. Study Ppulatin Relatinship Status Figure 3. Study Participants Number f Prir Children 15
Figure 4. Participants' Ethnic Backgrund 4.2 PRE- AND POST-WEBSITE SURVEYS 4.2.1 Prir Familiarity with Genetic Cnditins and NBS Figure 5 belw depicts the participants familiarity with sickle cell trait and disease, the thalassemias, cystic fibrsis, and newbrn screening prir t viewing the website. Thalassemia was the cnditin with which participants were least familiar (36%), and there was the mst prir familiarity with sickle cell disease (68%). Over half (60%) f participants had heard f newbrn screening. 16
Figure 5. Participants Prir Familiarity with Genetic Cnditins and Newbrn Screening 4.2.2 Pst-test vs. Pre-test Perfrmance T cmpare scres n pre- and pst-tests, the Wilcx test fr paired data was perfrmed with a ne-sided p-value. The null hypthesis was that there wuld be n difference in perfrmance between the tw surveys, with the alternative hypthesis that scres n the pst-test wuld be imprved ver the pre-test. Scres were shwn t be higher n the pst-test, with a ttal p-value f 0.000667. When divided int individual questins, there was statistically significant imprvement n questins 1, 2, 4, and 5. The results f this analysis are summarized in Table 1 belw. 17
Table 1. Pre-Test and Pst-Test Perfrmance (n=25) Survey Questin Crrect Respnses n Crrect Respnses n P-Value Pre-Website Survey Pst-Website Survey What des a psitive sickle cell carrier test mean? 8 (32%) 16 (64%) 0.01176 Hw can a child get SCD? 7 (28%) 18 (72%) 0.001301 What des a negative CF carrier test mean? 6 (24%) 10 (40%) 0.09083 T/F: Tw parents wh are 9 (36%) 17 (68%) 0.006712 CF carriers can have healthy children Hw is NBS perfrmed? 10 (40%) 22 (88%) 0.000314 T/F: A healthy baby can 10 (40%) 15 (60%) 0.07252 receive an abnrmal NBS result Average ttal scre 2 4 0.0000677 McNemar s chi square test fr paired data was cnducted t evaluate each test questin individually. The null hypthesis fr this tw-sided test was that there wuld be n difference between perfrmances n each test, while the alternative was that there was a difference (nt necessarily an imprvement). This test als fund a statistically significant difference in scres n questins 1, 2, 4, and 5. The p-values are listed in Table 2 belw. 18
Table 2. Change frm pre-test t pst-test Questin Number P-Value 1 0.04331 2 0.005546 3 0.2888 4 0.02686 5 0.001496 6 0.2278 Bth the Wilcx and McNemar test were used because f the individual strengths and weaknesses f these tests. Wilcx allws a ne-sided test, which prvides higher statistical pwer fr the questin at hand since we are specifically lking fr an imprvement in the psttest ver the pre-test scre. Hwever, with this test the symmetry assumptin f the distributin may nt necessarily be upheld. McNemar s test is ideal fr testing independence f paired binary variables, but this can nly be a tw-sided test and wuld therefre have reduced statistical pwer. 4.2.3 Test Perfrmance vs. Age Using the Spearman crrelatin between pre- and pst-test ttal scre and age, it was fund that age had n crrelatin with the perfrmance n the pre-test. Hwever, there was a statistically significant relatinship between age and the scre n the pst-test. There was an inverse relatinship, where the scre n the pst-test decreased as the participant s age increased. These findings are shwn in Table 3 and Figures 6 and 7. 19
Table 3. Age vs. Test Perfrmance Test Rh P-Value Pre-test ttal -0.082956 0.6934 Pst-test ttal -0.525623 0.006967 Change -0.42421.03456 (pst-test ttal pre-test ttal) Figure 6. Pre-test vs. Age 20
Figure 7. Pst Test vs. Age T evaluate if the number f ther children influenced this age effect, the Spearman crrelatin was re-calculated adjusting fr previus children. Table 4 cntains the analysis while adjusting fr either having r nt having any previus children. Table 5 adjusts fr the number (1-4) f previus children. The age effect was still present even when accunting fr having ther children. Table 4. Age vs. Test Perfrmance (adjusted fr having had previus children) Test Rh P-Value Pre-test ttal -0.29971 0.1455 Pst-test ttal -0.47762 0.01575 Change -0.31627 0.1235 (pst-test ttal pre-test ttal) 21
Table 5. Age vs. Test Perfrmance (adjusted fr the number f previus children) Test Rh P-Value Pre-test ttal -0.18097 0.3867 Pst-test ttal -0.60918 0.001229 Change -0.43435 0.03004 (pst-test ttal pre-test ttal) 4.2.4 Test Perfrmance vs. Having Previus Children The effect f having had prir children was measured against pre- and pst-test perfrmance using the Mann-Whitney test. Thse wh claimed t have ne r mre previus children were cmpared with thse wh have never had a child. The analysis shwed that thse with at least ne ther child did better n the pre-test, but there was n difference in pst-test perfrmance. The results are listed in Table 6 belw. Table 6. Previus Children vs. Test Perfrmance Prir Children Test P-Value Previus children vs. nne Pre-Test 0.04767 Pst-Test 0.9338 Change 0.02677 22
4.2.5 Test Perfrmance and Other Demgraphic Factrs Pre-and Pst-test perfrmances were cmpared with ther demgraphics including race, educatinal backgrund, and relatinship status. The impact f ethnicity was analyzed using the Mann-Whitney test with a tw-side p-value. Fr ethnicity, almst all individuals identified themselves as either African American r Caucasian. There were tw individuals wh called themselves bth Caucasian and African American, as well as ne persn wh was American Indian/Alaska Native. Race was analyzed in tw ways, which differed in the way participants wh were biracial r American Indian/Alaska Native were treated. In the first analysis, thse wh cnsidered themselves nly Caucasian were cmpared t all ther ethnicities. Secnd, thse wh identified as African American, even if they als selected anther ethnicity, were cmpared with thse wh did nt say they were African American. There was n statistically significant difference in scres between ethnic grups. There was a nearly significant difference (p=0.06984) in the pre-test scre between African Americans and nn-african Americans, s it is pssible that there is a race difference in knwledge befre reading the website. There was n evidence fr a difference in pst-test perfrmance. Therefre, if race is assciated with differences in previus awareness f genetic cnditins and newbrn screening, the website may make up fr any deficiency in knwledge. Table 7 belw summarizes these findings. 23
Table 7. Race vs. Test Perfrmance Race Test P-Value Caucasian vs. nt Caucasian Pre-Test 0.2456 Pst-Test 0.7952 Change 0.1666 African American vs. nt African American Pre-Test 0.06984 Pst-Test 0.8246 Change 0.1749 The scres f thse in a relatinship (stating they were either in a relatinship r married) were cmpared t thse wh were nt in a relatinship (single r divrced). There was n difference in scres between the tw grups, as shwn in Table 8. Table 8. Relatinship Status vs. Test Perfrmance Relatinship Status Test P-Value In a relatinship/married vs. single Pre-Test 0.7652 Pst-Test 0.09656 Change 0.4234 The rle f a participant s educatinal backgrund was cmpared t test perfrmance t determine if thse with a cllege backgrund (either cmpleting sme cllege r having a cllege degree) scred differently than thse wh did nt attend cllege at all (sme high schl r a high schl degree). There was n statistically significant difference in test scres, as shwn by Table 9. 24
Table 9. Educatinal Backgrund vs. Test Perfrmance Educatinal Backgrund Test P-Value Cllege vs. nne Pre-Test 0.2528 Pst-Test 0.618 Change 0.3057 4.2.6 Opinin-based Questins The fllwing graphs (figures 8-11) describe the participants feedback n the website, which was verwhelmingly psitive. The vast majrity f individuals (92%) said the website prvided just the right amunt f infrmatin. Additinally, 64% f participants fund the infrmatin t be clearly presented, fund it helpful in understanding genetic testing and NBS, and believed it better prepared them t discuss that testing with their prenatal care prviders. The remainder f participants fund the website t be smewhat clear and smewhat helpful in learning the infrmatin. Finally, 76% f participants wuld recmmend the website t ther wmen, and the remainder wuld cnsider recmmending it. 25
T little 0 T much 8% Just right 92% Wuld yu say the amunt f infrmatin prvided by the website was: 0 5 10 15 20 25 Figure 8. Satisfactin with amunt f infrmatin n website Nt at all clear 0 Smewhat clear 36% Very clear 64% Wuld yu say the infrmatin n the website was: 0 2 4 6 8 10 12 14 16 18 Figure 9. Clarity f Infrmatin n Website 26
Nt at all helpful 0 Smewhat helpful 36% Very helpful 64% Hw helpful wuld yu say this website was in helping yu understand genetic testing and newbrn screening? 0 2 4 6 8 10 12 14 16 18 Figure 10. Helpfulness f Website in Understanding Genetic Testing and NBS Nt at all helpful0 Smewhat helpful 36% Very helpful 64% Hw helpful wuld yu say this website was in preparing yu t discuss prenatal genetic testing with yur prvider? 0 2 4 6 8 10 12 14 16 18 Figure 11. Helpfulness in Discussing Genetic Testing with Prvider 27
Never recmmend 0 Might recmmend 24% Wuld recmmend 76% Wuld yu recmmend that ther wmen use this website befre visiting their prviders? 0 5 10 15 20 Figure 12. Recmmending Website t Others 28
5.0 DISCUSSION 5.1 SPECIFIC AIM 1 The aim f implementing this website int the wrkflw f the clinic had limited success. The clinic has a high vlume f patients, which made it challenging t incrprate this website cnsistently int patients clinic visits. Fr this study, patients were shwn the website at the end f their time in clinic, after they had seen all their prviders and had their bld drawn in the lab. This is nt the ideal time fr them t see the website, since they wuld have already seen their prenatal care prviders and were frequently tired frm spending a few hurs in clinic. It wuld have been preferred fr a patient t read thrugh the website befre meeting with her bstetrician, since she wuld then have the pprtunity t ask questins and it culd ptentially cut dwn n the prvider s cunseling time. 5.2 SPECIFIC AIM 2 The effectiveness f this website was successfully evaluated. The data indicate that it is helpful in imprving wmen s knwledge f genetics and newbrn screening, shwn bth by imprvement in knwledge-based questins frm a pre- t pst-test and by pinin-based questins. On average, participants answered as many questins crrectly n the pst-test, and 29
their feedback was verwhelmingly psitive. All participants believe the website was at least smewhat helpful in helping them understand genetic testing and newbrn screening. Differences in race, educatinal level, and relatinship status had n statistically significant impact n a participant s scre. The fact that there was n evidence f a culture bias in the website is imprtant, particularly fr the African-American ppulatin since there is a histry f mistrust f medical prfessinals [25]. It has been shwn that yunger individuals have a general wariness f physicians, even thugh they have never heard f events such as the Tuskegee Syphilis study. It has been suggested that this sentiment has been ingrained int the African American culture and is passed dwn thrugh generatins [25]. When there is mistrust f health care prviders, a website reinfrcing infrmatin culd be useful as an additinal means f educatin. The nly factrs that had a significant effect n scre were the participant s age and number f previus children. Age had an inverse crrelatin with scre n the pst-test, but had n impact n perfrmance n the pre-test. All participants were relatively yung (mean age f 22 years), therefre it seems unlikely that lder individuals wuld have less experience with technlgy s that their scres wuld be lwer. This analysis was re-calculated t adjust fr previus children, and the age difference was still present. A larger sample size with a balance f lder participants culd be helpful t determine hw significant this difference is. The number f previus children had an impact n pre-test scre, but nt n the pst-test. The pre-test scre was higher fr thse with ther children, but they did nt scre any better n the pst-test. This suggests that mthers had sme familiarity with newbrn screening and carrier testing frm previus pregnancies. Since there was n difference in pst-test scres, it 30
culd be that reading the website brings the new mms knwledge up t the level f smene with previus children. 5.3 STUDY LIMITATIONS Thugh the findings f this study have allwed this educatinal tl t be evaluated, there are sme limitatins. One f the main limitatins is that thse wh were Caucasian did nt see infrmatin n sickle cell disease while reading the website, but tw f the survey questins were n sickle cell disease. Therefre, these individuals were being tested n infrmatin t which they weren t expsed. The sample size f 25 participants was relatively small, and mre participants culd have prvided additinal strength t the findings. It was als difficult t assess if this website is a practical tl fr this clinic, since patients never went t the website unless they were apprached and persnally led t it. It was a challenge t implement this website int the natural flw f the clinic and fr patients t view the infrmatin at the mst pprtune time. 5.4 AREAS FOR FUTURE STUDY Given that there was difficulty in implementing the website in the clinic, further study culd be dne t evaluate the website in a different clinical setting, such as a private practice. If a clinic has success in incrprating the website s that wmen see it prir t meeting with their 31
physician, it wuld be interesting t cmpare hw much having read the website affects their cnversatin with the bstetrician. Once the website has becme cnsistently utilized in a clinic, individuals wh either test psitive n a carrier screen r have a newbrn with a psitive screening result can be surveyed t determine if they were familiar with My Baby s Health, and if learning abut NBS and carrier testing in the prenatal perid was helpful. Additinal analysis culd be dne t determine if peple wh fund the website smewhat helpful r smewhat clear did mre prly n the pst-test. Separate surveys culd als be develped fr thse wh are Caucasian s that this ppulatin is nt tested n infrmatin they did nt see while reading the website. 5.5 CONCLUSION The data indicate that the My Baby s Health website is a useful tl in imprving knwledge n carrier testing and newbrn screening. This website wuld be mst beneficial if it were incrprated int the natural flw f the clinic, s that all prenatal patients are encuraged t visit the website while waiting t meet with the prvider. Expsure t carrier testing and newbrn screening befrehand culd reduce the time a prvider wuld need t spend cunseling n that infrmatin. Since increased patient knwledge f carrier testing and NBS has been suggested t imprve fllw-up, this website can help newbrns wh have tested psitive t receive mre timely management. Imprved educatin als has the benefit f reducing anxiety that accmpanies a psitive newbrn r carrier screening test. If utilized t its full ptential in numerus prenatal clinics acrss the United States, the My Baby s Health website culd have public health impact. It culd decrease health disparities acrss the cuntry by making educatin 32
n newbrn screening and carrier testing mre accessible t a wider array f individuals, including thse f different sciecnmic and ethnic backgrunds. 33
APPENDIX A: SURVEYS A.1 PRE-WEBSITE SURVEY Dear Viewer, The purpse f this research study is t determine whether a website can effectively prvide educatin abut genetics and testing t pregnant wmen. We plan t survey wmen wh have an appintment with a prenatal care prvider during their pregnancy. The tw questinnaires are brief (ttaling 5-10 minutes) and will be presented befre and after the website is viewed. If yu are willing t participate, ur questinnaire will ask yu abut genetic testing and genetic diseases, as well as abut yur backgrund (e.g., age, educatin, race). There are n freseeable risks assciated with this survey. There are n direct benefits t yu and yu will nt receive payment fr participating. Yur participatin is vluntary, and yu may withdraw at any time. This study is being cnducted by Dr. Lakshmanan Krishnamurti, a pediatric hematlgist, and Claire Harwd, BA, a genetic cunseling intern. The study persnnel can be reached at 412-692-7827, if yu have any questins. Genetics and Testing and testing. These 7 questins are abut what yu may have heard abut genetic cnditins 1. Have yu heard f any f the fllwing cnditins r tests? Check all that apply. Sickle cell trait Sickle cell disease Cystic fibrsis (CF) Thalassemia Newbrn screening 34
I have nt heard f any f these 2. A psitive sickle cell carrier test means: That persn definitely has sickle cell trait That persn prbably has sickle cell trait That persn culd develp sickle cell trait ver time There is n test fr sickle cell trait Dn't knw 3. Hw can a child get sickle cell disease? Bth parents must have sickle cell trait Their mm has sickle cell trait but their dad des nt Their dad has sickle cell trait but their mm des nt One parent als has sickle cell disease Dn't knw 4. A negative cystic fibrsis carrier test means: That persn is definitely nt a carrier That persn is prbably nt a carrier, althugh this cannt be definitely ruled ut There is n carrier test fr cystic fibrsis Dn't knw 5. If tw parents are carriers fr cystic fibrsis, they can have healthy children. True False Dn't knw 6. Hw is newbrn screening perfrmed? The baby ges t a check-up with a dctr The baby's bld is drawn by pricking their heel The baby's bld is drawn frm their arm The baby's DNA is taken frm their saliva Dn't knw 35
7. A healthy baby can receive a psitive (abnrmal) newbrn screening result. True False Dn't knw A.2 POST-WEBSITE SURVEY and testing. These 6 questins are abut what yu may have heard abut genetic cnditins A psitive sickle cell carrier test means: That persn definitely has sickle cell trait That persn prbably has sickle cell trait That persn culd develp sickle cell trait ver time There is n test fr sickle cell trait Dn't knw Hw can a child get sickle cell disease? Bth parents must have sickle cell trait Their mm has sickle cell trait but their dad des nt Their dad has sickle cell trait but their mm des nt One parent als has sickle cell disease Dn't knw A negative cystic fibrsis carrier test means: 36
That persn is definitely nt a carrier That persn is prbably nt a carrier, althugh this cannt be definitely ruled ut There is n carrier test fr cystic fibrsis Dn't knw If tw parents are carriers fr cystic fibrsis, they can have healthy children. True False Dn't knw Hw is newbrn screening perfrmed? The baby ges t a check-up with a dctr The baby's bld is drawn by pricking their heel The baby's bld is drawn frm their arm The baby's DNA is taken frm their saliva Dn't knw A healthy baby can receive a psitive (abnrmal) newbrn screening result. True False Dn't knw These 5 questins tell us hw yu felt abut the MyBabysHealth.rg website. Wuld yu say the amunt f infrmatin prvided by the website was: * T little Just right T much 37
Wuld yu say the infrmatin n the website was: Nt at all clear Smewhat clear Very clear Hw helpful wuld yu say this website was in helping yu understand genetic testing and newbrn screening? Nt at all helpful Smewhat helpful Very helpful Hw helpful wuld yu say this website was in preparing yu t discuss prenatal genetic testing with yur prvider? Nt at all helpful Smewhat helpful Very helpful prviders? Wuld yu recmmend that ther wmen use this website befre visiting their Never recmmend Might recmmend Wuld recmmend 38
APPENDIX B: IRB-APPROVAL 39
40
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17. Galanell, R. and A. Ca, Gene test review. Alpha-thalassemia. Genet Med, 2011. 13(2): p. 83-8. 18. Harteveld, C.L. and D.R. Higgs, Alpha-thalassaemia. Orphanet J Rare Dis, 2010. 5: p. 13. 19. Ca, A. and R. Galanell, Beta-thalassemia. Genet Med, 2010. 12(2): p. 61-76. 20. Lng, K.A., et al., Attitudes and beliefs f African-Americans tward genetics, genetic testing, and sickle cell disease educatin and awareness. J Genet Cuns, 2011. 20(6): p. 572-92. 21. Nichlsn, W.K., H.A. Grasn, and N.R. Pwe, The relatinship f race t wmen's use f health infrmatin resurces. Am J Obstet Gynecl, 2003. 188(2): p. 580-5. 22. Yang, Y.M., et al., Prenatal sickle cell screening educatin effect n the fllw-up rates f infants with sickle cell trait. Patient Educ Cuns, 2000. 39(2-3): p. 185-9. 23. Lewis, D., Cmputer-based appraches t patient educatin: a review f the literature. J Am Med Infrm Assc, 1999. 6(4): p. 272-82. 24. Keulers, B.J., et al., Can face-t-face patient educatin be replaced by cmputer-based patient educatin? A randmised trial. Patient Educ Cuns, 2007. 67(1-2): p. 176-82. 25. Hamiltn, L.A., et al., African-American cmmunity attitudes and perceptins tward schizphrenia and medical research: an explratry study. J Natl Med Assc, 2006. 98(1): p. 18-27. 42