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Article: Newborn Screening Policy Decisions: Adding Conditions.

Shone, Scott M

2019 Volume 80, Issue 1, Page(s) 42–44

Abstract: Policy decisions about mandated newborn screening should be based on scientific evidence and incorporate expert opinion. At the national level, a systematic evidence review evaluates the benefit of screening for disorders that may be added to the ... ...

Abstract	Policy decisions about mandated newborn screening should be based on scientific evidence and incorporate expert opinion. At the national level, a systematic evidence review evaluates the benefit of screening for disorders that may be added to the Recommended Uniform Screening Panel, and ultimately considered by individual newborn screening programs. Recent changes in state laws, including in North Carolina, are intended to streamline the decision-making process for newborn screening policy changes.
MeSH term(s)	Health Policy ; Humans ; Infant, Newborn ; Neonatal Screening ; North Carolina ; Policy Making
Language	English
Publishing date	2019-01-07
Publishing country	United States
Document type	Journal Article
ZDB-ID	422795-5
ISSN	0029-2559
ISSN	0029-2559
DOI	10.18043/ncm.80.1.42
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Article ; Online: A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check.

Kucera, Katerina S / Taylor, Jennifer L / Robles, Veronica R / Clinard, Kristin / Migliore, Brooke / Boyea, Beth Lincoln / Okoniewski, Katherine C / Duparc, Martin / Rehder, Catherine W / Shone, Scott M / Fan, Zheng / Raspa, Melissa / Peay, Holly L / Wheeler, Anne C / Powell, Cynthia M / Bailey, Donald B / Gehtland, Lisa M

International journal of neonatal screening

2021 Volume 7, Issue 1

Abstract: Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North Carolina, U.S.A., we offered voluntary screening through the Early Check (EC) research study. Here, we describe the EC experience from October 2018 through December ... ...

Abstract	Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North Carolina, U.S.A., we offered voluntary screening through the Early Check (EC) research study. Here, we describe the EC experience from October 2018 through December 2020. We enrolled a total of 12,065 newborns and identified one newborn with 0 copies of
Language	English
Publishing date	2021-03-21
Publishing country	Switzerland
Document type	Journal Article
ISSN	2409-515X
ISSN (online)	2409-515X
DOI	10.3390/ijns7010020
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Article ; Online: Outreach to new mothers through direct mail and email: recruitment in the Early Check research study.

Paquin, Ryan S / Lewis, Megan A / Harper, Blake A / Moultrie, Rebecca R / Gwaltney, Angela / Gehtland, Lisa M / Peay, Holly L / Duparc, Martin / Raspa, Melissa / Wheeler, Anne C / Powell, Cynthia M / King, Nancy M P / Shone, Scott M / Bailey, Donald B

Clinical and translational science

2021 Volume 14, Issue 3, Page(s) 880–889

Abstract: Meeting recruitment targets for clinical trials and health research studies is a notable challenge. Unsuccessful efforts to recruit participants from traditionally underserved populations can limit who benefits from scientific discovery, thus ... ...

Abstract	Meeting recruitment targets for clinical trials and health research studies is a notable challenge. Unsuccessful efforts to recruit participants from traditionally underserved populations can limit who benefits from scientific discovery, thus perpetuating inequities in health outcomes and access to care. In this study, we evaluated direct mail and email outreach campaigns designed to recruit women who gave birth in North Carolina for a statewide research study offering expanded newborn screening for a panel of rare health conditions. Of the 54,887 women who gave birth in North Carolina from September 28, 2018, through March 19, 2019, and were eligible to be included on the study's contact lists, we had access to a mailing address for 97.9% and an email address for 6.3%. Rural women were less likely to have sufficient contact information available, but this amounted to less than a one percentage point difference by urbanicity. Native American women were less likely to have an email address on record; however, we did not find a similar disparity when recruitment using direct-mail letters and postcards was concerned. Although we sent letters and emails in roughly equal proportion by urbanicity and race/ethnicity, we found significant differences in enrollment across demographic subgroups. Controlling for race/ethnicity and urbanicity, we found that direct-mail letters and emails were effective recruitment methods. The enrollment rate among women who were sent a recruitment letter was 4.1%, and this rate increased to 5.0% among women who were also sent an email invitation. Study Highlights WHAT IS THE CURRENT KNOWLEDGE ON THE TOPIC? Under-representation by traditionally underserved populations in clinical trials and health research is a challenge that may in part reflect inequitable opportunities to participate. WHAT QUESTION DID THIS STUDY ADDRESS? Are direct-mail and email outreach strategies effective for reaching and recruiting women from traditionally underserved and rural populations to participate in large-scale, population-based research? WHAT DOES THIS STUDY ADD TO OUR KNOWLEDGE? Despite sending recruitment letters and email invitations in roughly equal proportion by urbanicity and race/ethnicity, women living in rural areas were less likely to enroll (2.8%) than women from urban areas (4.2%). Additionally, enrollment rates decreased as the probability that women were members of a racial or ethnic minority group increased. HOW MIGHT THIS CHANGE CLINICAL PHARMACOLOGY OR TRANSLATIONAL SCIENCE? Results from this study might encourage researchers to take a holistic and participant-centered view of barriers to study enrollment that may disproportionately affect underserved communities, including differences in willingness to participate, trust, and access to resources needed for uptake.
MeSH term(s)	Clinical Trials as Topic/organization & administration ; Clinical Trials as Topic/statistics & numerical data ; Electronic Mail/statistics & numerical data ; Female ; Humans ; Infant, Newborn ; Mothers/statistics & numerical data ; Neonatal Screening/organization & administration ; North Carolina ; Patient Selection ; Postal Service/statistics & numerical data ; Rural Population/statistics & numerical data ; Vulnerable Populations/statistics & numerical data
Language	English
Publishing date	2021-02-13
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2433157-0
ISSN	1752-8062 ; 1752-8054
ISSN (online)	1752-8062
ISSN	1752-8054
DOI	10.1111/cts.12950
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Article ; Online: A Newborn Screening Education Best Practices Framework: Development and Adoption.

Evans, Adrianna / LeBlanc, Keri / Bonhomme, Natasha / Shone, Scott M / Gaviglio, Amy / Freedenberg, Debra / Penn, Jeremy / Johnson, Carol / Vogel, Beth / Dolan, Siobhan M / Goldenberg, Aaron J

International journal of neonatal screening

2019 Volume 5, Issue 2, Page(s) 22

Abstract: Newborn screening is a process-based public health service. Newborn screening staff and families alike are essential to maintaining the timeliness of the screening process. Newborn screening education must be accurate and accessible. Past newborn ... ...

Abstract	Newborn screening is a process-based public health service. Newborn screening staff and families alike are essential to maintaining the timeliness of the screening process. Newborn screening education must be accurate and accessible. Past newborn screening conferences have highlighted gaps in best practice and evidence-based guidance on newborn screening education. Sharing successful strategies across programs mitigates the scarcity of resources by cutting costs and reducing the burden of work. These factors illustrate the need for an education framework to guide newborn screening education efforts. The Newborn Screening Education Best Practices Framework responds to these issues by outlining guidance for newborn screening education approaches. Experts in the fields of newborn screening, genetics, and bioethics as well as previous research on best practice guidelines have contributed to the development of this framework. The framework outlines a process for users to evaluate newborn screening education approaches as best practices. This framework reviews best practices using a two-step approach, looking at guiding questions, implementation of the newborn screening issue, and evaluation. The framework helps the user define the characteristics of the newborn screening issue, intended audience, and practical steps to implementation, and then decide whether or not it can be used as a best practice.
Language	English
Publishing date	2019-06-01
Publishing country	Switzerland
Document type	Journal Article ; Review
ISSN	2409-515X
ISSN (online)	2409-515X
DOI	10.3390/ijns5020022
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Article ; Online: The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

Taylor, Jennifer L / Clinard, Kristin / Powell, Cynthia M / Rehder, Catherine / Young, Sarah P / Bali, Deeksha / Beckloff, Sara E / Gehtland, Lisa M / Kemper, Alex R / Lee, Stacey / Millington, David / Patel, Hari S / Shone, Scott M / Woodell, Carol / Zimmerman, Scott J / Bailey, Donald B / Muenzer, Joseph

The Journal of pediatrics

2019 Volume 211, Page(s) 193–200.e2

Abstract: Objective: To evaluate the performance of a 2-tiered newborn screening method for mucopolysaccharidosis type I (MPS I) in North Carolina.: Study design: The screening algorithm included a flow injection analysis-tandem mass spectrometry assay as a ... ...

Abstract	Objective: To evaluate the performance of a 2-tiered newborn screening method for mucopolysaccharidosis type I (MPS I) in North Carolina. Study design: The screening algorithm included a flow injection analysis-tandem mass spectrometry assay as a first-tier screening method to measure α-L-iduronidase (IDUA) enzyme activity and Sanger sequencing of the IDUA gene on dried blood spots as a second-tier assay. The screening algorithm was revised to incorporate the Collaborative Laboratory Integrated Reports, an analytical interpretive tool, to reduce the false-positive rate. A medical history, physical examination, IDUA activity, and urinary glycosaminoglycan (GAG) analysis were obtained on all screen-positive infants. Results: A total of 62 734 specimens were screened with 54 screen-positive samples using a cut-off of 15% of daily mean IDUA activity. The implementation of Collaborative Laboratory Integrated Reports reduced the number of specimens that screened positive to 19 infants. Of the infants identified as screen-positive, 1 had elevated urinary GAGs and a homozygous pathogenic variant associated with the severe form of MPS I. All other screen-positive infants had normal urinary GAG analysis; 13 newborns had pseudodeficiency alleles, 3 newborns had variants of unknown significance, and 2 had heterozygous pathogenic variants. Conclusions: An infant with severe MPS I was identified and referred for a hematopoietic stem cell transplant. Newborn IDUA enzyme deficiency is common in North Carolina, but most are due to pseudodeficiency alleles in infants with normal urinary GAG analysis and no evidence of disease. The pilot study confirmed the need for second-tier testing to reduce the follow-up burden.
MeSH term(s)	Algorithms ; Dermatan Sulfate/urine ; Genetic Testing ; Genetic Variation ; Glycosaminoglycans/urine ; Heparitin Sulfate/urine ; Humans ; Iduronidase/blood ; Iduronidase/genetics ; Infant, Newborn ; Mucopolysaccharidosis I/diagnosis ; Mucopolysaccharidosis I/genetics ; Neonatal Screening ; North Carolina ; Referral and Consultation/statistics & numerical data ; Sequence Analysis ; Tandem Mass Spectrometry
Chemical Substances	Glycosaminoglycans ; Dermatan Sulfate (24967-94-0) ; Heparitin Sulfate (9050-30-0) ; IDUA protein, human (EC 3.2.1.76) ; Iduronidase (EC 3.2.1.76)
Language	English
Publishing date	2019-05-24
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	3102-1
ISSN	1097-6833 ; 0022-3476
ISSN (online)	1097-6833
ISSN	0022-3476
DOI	10.1016/j.jpeds.2019.04.027
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Article: Targeted trapping of mosquito vectors in the Chesapeake Bay area of Maryland.

Shone, Scott M / Glass, Gregory E / Norris, Douglas E

Journal of medical entomology

2006 Volume 43, Issue 2, Page(s) 151–158

Abstract: Most adult mosquito surveillance in Maryland is performed using dry ice-baited or unbaited Centers for Disease Control (CDC) miniature light traps suspended approximately 1.5 m above the ground. However, standardized trapping methods may miss mosquito ... ...

Abstract	Most adult mosquito surveillance in Maryland is performed using dry ice-baited or unbaited Centers for Disease Control (CDC) miniature light traps suspended approximately 1.5 m above the ground. However, standardized trapping methods may miss mosquito species involved in disease transmission cycles. During a 2-yr study, the effectiveness of the olfactory attractant 1-octen-3-ol alone and in combination with carbon dioxide was evaluated for collecting mosquito vector species. In addition, trap heights were examined to determine the optimal vertical placement to target various species. We evaluated the results during the second year by targeting selected species by using various habitat- height-bait combinations. Although Culex erraticus Dyar & Knab and Anopheles quadrimaculatus Say were not successfully targeted, Culex salinarius Coquillett, Aedes vexans Meigen, Anopheles bradleyi/crucians King, Coquillettidia perturbans Walker, Aedes sollicitans Walker, and Aedes taeniorhynchus Wiedemann were preferentially captured using targeted trapping schemes.
MeSH term(s)	Animals ; Carbon Dioxide/pharmacology ; Culicidae/classification ; Culicidae/drug effects ; Culicidae/physiology ; Ecosystem ; Female ; Insect Vectors/classification ; Insect Vectors/drug effects ; Insect Vectors/physiology ; Maryland ; Mosquito Control/methods ; Octanols/pharmacology ; Odds Ratio ; Seasons
Chemical Substances	Octanols ; Carbon Dioxide (142M471B3J) ; 1-octen-3-ol (WXB511GE38)
Language	English
Publishing date	2006-04-12
Publishing country	England
Document type	Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	410635-0
ISSN	0022-2585
ISSN	0022-2585
DOI	10.1603/0022-2585(2006)043[0151:ttomvi]2.0.co;2
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Article: Cross correlation maps: a tool for visualizing and modeling time lagged associations.

Curriero, Frank C / Shone, Scott M / Glass, Gregory E

Vector borne and zoonotic diseases (Larchmont, N.Y.)

2005 Volume 5, Issue 3, Page(s) 267–275

Abstract: It has long been recognized that arthropod populations fluctuate with changes in environmental conditions and these changes occur at various spatial and temporal scales. Empirical studies that have explored associations between vector abundance and the ... ...

Abstract	It has long been recognized that arthropod populations fluctuate with changes in environmental conditions and these changes occur at various spatial and temporal scales. Empirical studies that have explored associations between vector abundance and the environment often considered meterological events as leading indicators with their effects traditionally restricted to single points in time, such as precipitation 12 days prior to trapping. Field experience, however, suggests that the duration of these environmental effects on vectors often extends over a range or interval of time. Such a scenario is not directly interpretable from cross correlation plots routinely employed to visualize and identify time lag associations. Cross correlation maps are introduced as a way to generalize cross correlation plots and to visualize the effects of environmental conditions over intervals of time. This graphical method is flexible and can include different characterizations of environmental effects, as well as interactions among environmental variables. A time series of daily trapped female Ochlerotatus sollicitans mosquitos and leading meterologic conditions were used for demonstration. Associations shown in cross correlation maps were consistent with the arthropod biology and trapping efficacy and were also stronger than those identified at single time points using cross correlation plots. Poisson regression models for vector abundance built using meterological variables with both single and interval based leading time lags were compared. The approach based on the leading meterological events allowed to extend over time intervals reproduced the Oc. sollicitans daily population dynamics better than the traditional approach.
MeSH term(s)	Animals ; Arthropod Vectors/growth & development ; Arthropod Vectors/physiology ; Arthropods/growth & development ; Arthropods/physiology ; Culicidae/growth & development ; Culicidae/physiology ; Environment ; Female ; Male ; Maryland ; Models, Biological ; Population Dynamics ; Population Surveillance ; Regression Analysis ; Seasons ; Time Factors ; Weather
Language	English
Publishing date	2005
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2047199-3
ISSN	1557-7759 ; 1530-3667
ISSN (online)	1557-7759
ISSN	1530-3667
DOI	10.1089/vbz.2005.5.267
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Article: Characterizing population dynamics of Aedes sollicitans (Diptera: Culicidae) using meteorological data.

Shone, Scott M / Curriero, Frank C / Lesser, Cyrus R / Glass, Gregory E

Journal of medical entomology

2006 Volume 43, Issue 2, Page(s) 393–402

Abstract: Numerous studies have investigated the role of weather on insect species. For mosquitoes, these studies have yielded mixed results. Although it is clear that weather impacts mosquito population dynamics, these investigations have failed to accurately ... ...

Abstract	Numerous studies have investigated the role of weather on insect species. For mosquitoes, these studies have yielded mixed results. Although it is clear that weather impacts mosquito population dynamics, these investigations have failed to accurately characterize their fluctuations. We use a novel graphical method to examine large numbers of meteorological aggregations of varying lengths and lags simultaneously to establish relationships between these summary variables and mosquito counts, to gain a better understanding of the weather effects. Poisson regression models were developed to characterize the population dynamics of Aedes sollicitans (Walker) by using meteorological data and a 34-yr set of daily mosquito count data. The models accurately characterize mosquito dynamics over time and space. The aggregated meteorological variables included in the model were lowest minimum tides between days 27 and 14 before trapping, total precipitation between days 22 and 9, total precipitation on day 1 and the day of trapping, cooling degree-days on day 0, average minimum relative humidity between days 28 and 9, lowest stream flow from day 11 to day 0, and lowest minimum temperature between days 28 and 13.
MeSH term(s)	Aedes/physiology ; Animals ; Female ; Humidity ; Insect Vectors/physiology ; Meteorological Concepts ; Models, Biological ; Population Dynamics ; Rain ; Regression Analysis ; Temperature ; Time Factors ; Water Movements
Language	English
Publishing date	2006-03-24
Publishing country	England
Document type	Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	410635-0
ISSN	0022-2585
ISSN	0022-2585
DOI	10.1603/0022-2585(2006)043[0393:cpdoas]2.0.co;2
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Article: A novel real-time PCR assay for the speciation of medically important ticks.

Shone, Scott M / Dillon, Harry J / Hom, Sherman S / Delgado, Nelson

Vector borne and zoonotic diseases (Larchmont, N.Y.)

2006 Volume 6, Issue 2, Page(s) 152–160

Abstract: The identification of ticks using morphological characters is a well-established practice, however specimens that are small or damaged are often difficult to speciate. A novel, rapid real-time PCR assay, which targets the second internal transcribed ... ...

Abstract	The identification of ticks using morphological characters is a well-established practice, however specimens that are small or damaged are often difficult to speciate. A novel, rapid real-time PCR assay, which targets the second internal transcribed spacer (ITS2) region in the nuclear ribosomal DNA gene, was developed for identification of four tick species of utmost medical importance in the United States: Ixodes scapularis, I. pacificus, Dermacentor variabilis, and Amblyomma americanum. Computational analyses of public databases and DNA sequencing studies revealed regions that could be specifically targeted with oligonucleotides optimized for TaqMan chemistry. The oligonucleotide sets designed in this study are specific at both the genus and species levels, and are sensitive at 0.1-1 pg of total tick DNA.
MeSH term(s)	Animals ; Arachnid Vectors/classification ; Arachnid Vectors/genetics ; Base Sequence ; DNA, Intergenic ; DNA, Ribosomal Spacer ; Dermacentor/classification ; Ixodes/classification ; Nucleic Acid Amplification Techniques/veterinary ; Phylogeny ; Polymerase Chain Reaction/methods ; Polymerase Chain Reaction/veterinary ; Sensitivity and Specificity ; Species Specificity ; Ticks/classification ; Ticks/genetics
Chemical Substances	DNA, Intergenic ; DNA, Ribosomal Spacer
Language	English
Publishing date	2006
Publishing country	United States
Document type	Journal Article ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	2047199-3
ISSN	1557-7759 ; 1530-3667
ISSN (online)	1557-7759
ISSN	1530-3667
DOI	10.1089/vbz.2006.6.152
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Article ; Online: Early Check: translational science at the intersection of public health and newborn screening.

Bailey, Donald B / Gehtland, Lisa M / Lewis, Megan A / Peay, Holly / Raspa, Melissa / Shone, Scott M / Taylor, Jennifer L / Wheeler, Anne C / Cotten, Michael / King, Nancy M P / Powell, Cynthia M / Biesecker, Barbara / Bishop, Christine E / Boyea, Beth Lincoln / Duparc, Martin / Harper, Blake A / Kemper, Alex R / Lee, Stacey N / Moultrie, Rebecca /

Okoniewski, Katherine C / Paquin, Ryan S / Pettit, Denise / Porter, Katherine Ackerman / Zimmerman, Scott J

BMC pediatrics

2019 Volume 19, Issue 1, Page(s) 238

Abstract: Background: Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the successes of ... ...

Abstract	Background: Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the successes of translational medicine available to every infant with a rare disorder that is difficult to diagnose clinically, but for which strong evidence indicates that presymptomatic treatment will substantially improve outcomes. Realistic NBS policy requires data, but rare disorders face a special challenge: Screening cannot be done without supportive data, but adequate data cannot be collected in the absence of large-scale screening. The magnitude and scale of research to provide this expanse of data require working with public health programs, but most do not have the resources or mandate to conduct research. Methods: To address this gap, we have established Early Check, a research program in partnership with a state NBS program. Early Check provides the infrastructure needed to identify conditions for which there have been significant advances in treatment potential, but require a large-scale, population-based study to test benefits and risks, demonstrate feasibility, and inform NBS policy. Discussion: Our goal is to prove the benefits of a program that can, when compared with current models, accelerate understanding of diseases and treatments, reduce the time needed to consider inclusion of appropriate conditions in the standard NBS panel, and accelerate future research on new NBS conditions, including clinical trials for investigational interventions. Trial registration: Clinicaltrials.gov registration # NCT03655223 . Registered on August 31, 2018.
MeSH term(s)	Early Diagnosis ; Female ; Follow-Up Studies ; Fragile X Syndrome/diagnosis ; Fragile X Syndrome/epidemiology ; Health Policy ; Humans ; Infant, Newborn ; Informed Consent ; Internet ; Intersectoral Collaboration ; Male ; Muscular Atrophy, Spinal/diagnosis ; Muscular Atrophy, Spinal/epidemiology ; Neonatal Screening ; North Carolina/epidemiology ; Outcome Assessment, Health Care/methods ; Patient Selection ; Program Evaluation ; Prospective Studies ; Public Health ; Self-Help Groups ; Translational Medical Research
Language	English
Publishing date	2019-07-17
Publishing country	England
Document type	Journal Article ; Observational Study ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2041342-7
ISSN	1471-2431 ; 1471-2431
ISSN (online)	1471-2431
ISSN	1471-2431
DOI	10.1186/s12887-019-1606-4
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