501: strategies for population-wide genetic carrier screening: a cost-effectiveness analysis

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CONCLUSION: Pregnancy results in an alteration of maternal immune function in HIV infected women, particularly CD4 and CD8 T lymphocytes. Further study is needed to further elucidate their mechanisms of action and their implications for HIV disease progression. 501 Strategies for population-wide genetic carrier screening: a cost-effectiveness analysis Rebecca Weisinger 1 , Felicia Hawthorne 1 , Mona Sheikh 1 , Kenny Wong 1 , Eric Evans 1 , Imran Haque 1 , Reed Pyeritz 2 , Ramji Srinivasan 1 1 Counsyl, South San Francisco, CA, 2 Perelman School of Medicine at the University of Pennsylvania, Departments of Medicine and Genetics, Philadelphia, PA OBJECTIVE: Single-gene disorders affect 1 in 200 births and are a primary contributor to both pediatric hospitalization and infant mortality. Carrier screens are currently available for hundreds of these severe genetic disorders; however, concerns about increased testing and genetic counseling costs persist as barriers to the general use of expanded screening panels. We present a cost-effectiveness model that compares the economic burden of screening, genetic counseling, and follow-up care to the averted lifetime health care costs for a population of 1,000,000 with demographics similar to the US population. STUDY DESIGN: In this study, we evaluated four strategies: (1) pop- ulation-wide screening for cystic brosis only; (2) population-wide screening for cystic brosis, spinal muscular atrophy, and Fragile X via single-gene tests; (3) population-wide screening for cystic brosis and spinal muscular atrophy in addition to ethnic-selective screening using multiple single-gene assays; and (4) population-wide screening with an expanded panel of up to 101 disorders using high- throughput technologies. RESULTS: We nd that an expanded panel priced at up to $695 could yield the same economic benet as screening for cystic brosis only at a test price of $300 while resulting in 10 additional averted births per year for a population of 1,000,000. Furthermore, our model shows that genetic counseling represents 1 to 2 percent of screening, counseling, and follow-up costs for strategies using single-gene as- says and that counseling costs for an expanded panel increase by only 3 to 7-fold relative to those methods. CONCLUSION: The use of an expanded panel to screen all couples who are pregnant or are planning a pregnancy has the potential to identify a greater number of affected births and return increased savings per patient tested than either one or multiple single-gene screens, and contrary to expectation, the counseling requirements for an expanded panel are a minor component of total cost. Comparison of screening strategies 502 Social media messaging in pregnancy: how Text4Baby compares to popular smart phone applications Adam Lewkowitz 1 , Betsy O’Donnell 1 , Sanae Nakagawa 1 , Juan Vargas 1 , Yvonne Cheng 1 , Marya Zlatnik 1 1 University of California, San Francisco, Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, San Francisco, CA OBJECTIVE: To determine whether content differed between Text4- Baby, an ACOG- and March of Dimes-sponsored free text-message program for pregnancy, and popular smart-phone apps geared for pregnancy. STUDY DESIGN: Researchers enrolled in Text4Baby and downloaded the four most-popular free pregnancy apps for smart phones as of 07/2013. Each programs content was extracted. 1452 messages ranging from conception to two weeks postpartum were stratied into eight themes of interest, including: weight/nutrition/exercise, depression/anxiety, seeking care, breast feeding, partner roles, cele- brating pregnancy, prevention strategies (vaccinations, contracep- tion, SIDS), and avoidance of toxic exposures (smoking, drugs and environmental toxins). Messages related to normal fetal develop- ment or pregnancy symptoms were not analyzed. Two researchers coded independently before reviewing all codes jointly to ensure consistency. Chi-square analysis allowed for analysis of statistically signicant differences between Text4Baby and the smart-phone apps. RESULTS: Compared to combined smart-phone-app messaging, Text4Baby was signicantly more likely to encourage subscribers to seek care (21.5% compared to 1.4%-7.9%, p<0.0001) and less likely to mention weight, diet, nutrition, or exercise (5.6% compared to 8.5-26.9%, p< 0.001). Text4Baby had fewer messages pertaining to partners but this was not statistically signicant. Text4Baby had more content geared toward breastfeeding and depression/anxiety compared to smart phone apps, but this was also not statistically signicant. CONCLUSION: Text4Baby is currently the only non-smart-phone messaging program available for pregnant women. To improve its content, Text4Baby could decrease the number of messages about obtaining care to better emphasize healthy eating, normal weight gain, exercise, and nutrition without increasing the number of text messages. www.AJOG.org Epidemiology, Ob Quality, Operative Obstetrics, Public Health, Infectious Disease, Academic Issues Poster Session III Supplement to JANUARY 2014 American Journal of Obstetrics & Gynecology S249

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Page 1: 501: Strategies for population-wide genetic carrier screening: a cost-effectiveness analysis

www.AJOG.org Epidemiology, Ob Quality, Operative Obstetrics, Public Health, Infectious Disease, Academic Issues Poster Session III

CONCLUSION: Pregnancy results in an alteration of maternal immunefunction in HIV infected women, particularly CD4 and CD8 Tlymphocytes. Further study is needed to further elucidate theirmechanisms of action and their implications for HIV diseaseprogression.

501

Strategies for population-wide genetic carrierscreening: a cost-effectiveness analysisRebecca Weisinger1, Felicia Hawthorne1, Mona Sheikh1,Kenny Wong1, Eric Evans1, Imran Haque1, Reed Pyeritz2,Ramji Srinivasan11Counsyl, South San Francisco, CA, 2Perelman School of Medicine at theUniversity of Pennsylvania, Departments of Medicine and Genetics,Philadelphia, PA

OBJECTIVE: Single-gene disorders affect 1 in 200 births and are aprimary contributor to both pediatric hospitalization and infantmortality. Carrier screens are currently available for hundreds ofthese severe genetic disorders; however, concerns about increasedtesting and genetic counseling costs persist as barriers to the generaluse of expanded screening panels. We present a cost-effectivenessmodel that compares the economic burden of screening, geneticcounseling, and follow-up care to the averted lifetime health carecosts for a population of 1,000,000 with demographics similar to theUS population.STUDY DESIGN: In this study, we evaluated four strategies: (1) pop-ulation-wide screening for cystic fibrosis only; (2) population-widescreening for cystic fibrosis, spinal muscular atrophy, and Fragile Xvia single-gene tests; (3) population-wide screening for cystic fibrosisand spinal muscular atrophy in addition to ethnic-selective screeningusing multiple single-gene assays; and (4) population-wide screeningwith an expanded panel of up to 101 disorders using high-throughput technologies.RESULTS: We find that an expanded panel priced at up to $695 couldyield the same economic benefit as screening for cystic fibrosis onlyat a test price of $300 while resulting in 10 additional averted birthsper year for a population of 1,000,000. Furthermore, our modelshows that genetic counseling represents 1 to 2 percent of screening,counseling, and follow-up costs for strategies using single-gene as-says and that counseling costs for an expanded panel increase by only3 to 7-fold relative to those methods.CONCLUSION: The use of an expanded panel to screen all coupleswho are pregnant or are planning a pregnancy has the potentialto identify a greater number of affected births and return

Supplem

increased savings per patient tested than either one or multiplesingle-gene screens, and contrary to expectation, the counselingrequirements for an expanded panel are a minor component oftotal cost.

Comparison of screening strategies

502

Social media messaging in pregnancy: how Text4Babycompares to popular smart phone applicationsAdam Lewkowitz1, Betsy O’Donnell1, Sanae Nakagawa1,Juan Vargas1, Yvonne Cheng1, Marya Zlatnik11University of California, San Francisco, Division of Maternal-Fetal Medicine,Department of Obstetrics, Gynecology, and Reproductive Sciences, SanFrancisco, CA

OBJECTIVE: To determine whether content differed between Text4-Baby, an ACOG- and March of Dimes-sponsored free text-messageprogram for pregnancy, and popular smart-phone apps geared forpregnancy.STUDY DESIGN: Researchers enrolled in Text4Baby and downloadedthe four most-popular free pregnancy apps for smart phones as of07/2013. Each program’s content was extracted. 1452 messagesranging from conception to two weeks postpartum were stratifiedinto eight themes of interest, including: weight/nutrition/exercise,depression/anxiety, seeking care, breast feeding, partner roles, cele-brating pregnancy, prevention strategies (vaccinations, contracep-tion, SIDS), and avoidance of toxic exposures (smoking, drugs andenvironmental toxins). Messages related to normal fetal develop-ment or pregnancy symptoms were not analyzed. Two researcherscoded independently before reviewing all codes jointly to ensureconsistency. Chi-square analysis allowed for analysis of statisticallysignificant differences between Text4Baby and the smart-phoneapps.RESULTS: Compared to combined smart-phone-app messaging,Text4Baby was significantly more likely to encourage subscribers toseek care (21.5% compared to 1.4%-7.9%, p<0.0001) and less likelyto mention weight, diet, nutrition, or exercise (5.6% compared to8.5-26.9%, p< 0.001). Text4Baby had fewer messages pertaining topartners but this was not statistically significant. Text4Baby hadmore content geared toward breastfeeding and depression/anxietycompared to smart phone apps, but this was also not statisticallysignificant.CONCLUSION: Text4Baby is currently the only non-smart-phonemessaging program available for pregnant women. To improve itscontent, Text4Baby could decrease the number of messages aboutobtaining care to better emphasize healthy eating, normal weightgain, exercise, and nutrition without increasing the number of textmessages.

ent to JANUARY 2014 American Journal of Obstetrics & Gynecology S249