Preliminary Program. Strong Foundations Lead to New Heights APHL Newborn Screening and Genetic Testing Symposium. #nbsgts
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1 #nbsgts /nbsgts 2019 APHL Newborn Screening and Genetic Testing Symposium April 7 10, 2019 Chicago, IL Preliminary Program Strong Foundations Lead to New Heights
2 About APHL APHL works to build effective laboratory systems in the US and globally. The association represents state and local governmental health labs that monitor and detect public health threats. About This Conference The 2019 APHL Newborn Screening & Genetic Testing Symposium (NBSGTS) will address state, national and international newborn screening, genetic testing and policy issues important to public health newborn screening systems. Topics include molecular technologies, current and upcoming conditions, quality improvement, communicating with families and the public and short and long-term follow-up. The program includes poster and platform presentations drawn from the submitted abstracts, invited oral presentations, exhibits and a Meet the Manufacturers session. Input and participation by parents and advocacy organizations is encouraged. The purpose of this symposium is to enhance participant knowledge of national and international newborn screening and genetics as related to current and emerging laboratory technologies, follow-up, candidate conditions, quality improvement and clinical outcomes. The major learning goals of this symposium are: Discuss and evaluate quality assurance and quality control measures for newborn screening laboratories Evaluate the effectiveness of current newborn screening and genetics follow-up programs Describe state and international experiences with candidate conditions and clinical outcomes in newborn screening Who will Benefit from Attending this Conference? Newborn screening and genetics laboratory professionals, newborn screening and genetics program personnel and counselors, students, health care practitioners or other maternal and child health service providers, public health nurses, specialists, public health laboratory directors, and other public health professionals involved with newborn screening & genetic testing issues and follow-up. General Information The 2019 APHL NBSGTS begins with three roundtables at 7:00 am on Sunday, April 7 followed by the Welcome Session at 8:30 am. It concludes at 1:00 pm on Wednesday, April 10. Posters will be displayed from Sunday afternoon, April 7 through 4:00 pm on Tuesday, April 9. Dedicated viewing times (with authors present) will be during Sunday s Welcome Reception from 6:30 pm 7:00 pm and during Tuesday s lunch from 12:30 pm 1:00 pm. The Exhibit Hall will be open Sunday, April 7 from 4:00 pm 7:30 pm; Monday, April 8 from 10:00 am 4:30 pm; and Tuesday, April 9 from 10:00 am 4:00 pm. All general sessions will take place in the. The exhibit hall, posters, breaks and lunch will take place one flight up in the APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
3 Optional Tour of the Illinois State Newborn Screening Laboratory An optional tour of the Illinois State Newborn Screening Laboratory has been arranged for Wednesday afternoon, April 10. You must sign up for this tour when you register for the symposium. Space is limited. Registration Advance registration through APHL is required. Early registration (until March 8, 2019) is $500. After that date, registration is $550. If you are paying by credit card you may register online by clicking the Online Registration link on the APHL NBSGTS conference page. If you are paying for your registration by check you may click the Registration Form link and download and mail or fax the completed form to APHL. The 2019 APHL NBSGTS conference page, with more details, is Hotel Hilton Chicago Hotel 720 South Michigan Ave. Chicago, IL APHL has negotiated a block of rooms split between $ and $ (the 2019 federal per diem rate), single/double per night plus tax. These rates will be filled on a first come, first served basis. To make your reservation, please call the hotel at or and tell them you are attending the APHL Newborn Screening Symposium, then ask for the conference or per diem rate. You may also make your reservation online. These rates are valid until March 5, 2019 or until the block is filled. This room block may fill up early so be sure to reserve your room as soon as possible. One night s fees will be charged as a deposit. Rooms cancelled less than 72 hours before arrival will be subject to a one night cancellation fee. Early check-out will result in one night s fee. Be sure to verify your departure upon check-in to avoid this fee. Continuing Education Credits APHL is an approved provider of continuing education programs in the clinical laboratory sciences through the American Society of Clinical Laboratory Science (ASCLS) P.A.C.E. program. Attendees may earn up to 21.0 P.A.C.E. credits by attending the entire conference. Nursing and genetic counseling continuing education units (CEUs) and continuing medical education (CMEs) will be offered APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
4 Consent to Use Photographic Images Registration and attendance at or participation in APHL meetings and other activities constitutes an agreement by the registrant to APHL s use and distribution (both now and in the future) of the registrant s or attendee s image or voice, without compensation, in photographs, videotapes, electronic reproductions and audiotapes of such events and activities. Conference Mobile App Access all the detailed information about sessions, exhibitors and poster abstracts at your fingertips before the meeting and onsite. Plan your experience with the My Show feature. Receive alerts and reminders onsite. The app includes these useful features: Interactive floor plans of the hotel and exhibit for easy navigation My Show, where one can personalize their experience by tagging sessions, exhibitors, city destinations and create notes 0:00 AM Alerts, reminders or changes about the conference APHL Blog daily conference summary and other social media Speaker and sponsor profiles The 2019 NBSGTS app will be available on the iphone and Android platforms. Look for it in the middle of March in the Apple and Google Play stores! APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
5 Visit These Exhibitors in the Exhibit Hall (As of December 12, 2018) GOLD CIRCLE: PerkinElmer NBS V.O.I.C.E. (comprised of the following): Astoria-Pacific, Inc. Integrated Software Solutions Microelectronic Systems SILVER CIRCLE: Baebies BRONZE CIRCLE: APHL Newborn Screening Program Bio-Rad Laboratories Cambridge Isotope Laboratories Clinical and Laboratory Standards Institute EBF, Inc. Illumina, Inc. Natus Medical, Inc. Quantabio Sebia Waters Corporation EXHIBITORS: Agena Bioscience Baby s First Test Centers for Disease Control and Prevention Luminex Corporation National Coordinating Center for the Regional Genetics Networks OZ Systems STAT Courier Service, Inc. Thanks to Our Sponsors! PerkinElmer Tote bags, hotel key cards, general conference support NBS V.O.I.C.E. Tote bags, water bottles Astoria-Pacific, Inc. Monday morning coffee break Baebies Pad folios Integrated Software Solutions Welcome Reception beverages APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
6 Program Highlights SATURDAY, APRIL 6 3:00 pm 7:00 pm Registration 8th Street Registration SUNDAY, APRIL 7 6:30 am 6:30 pm Registration 8th Street Registration 6:30 am 7:30 am Coffee Williford Foyer 7:00 am 8:00 am Roundtables Public Health Newborn Screening Long Term Follow-Up Opportunities and Challenges Williford A Kristi Bentler, MS, RN, PHN, Minnesota Department of Health Successes and Challenges of Using Post-Analytical Tools by Williford B Arthur Hagar, PhD, Georgia Public Health Laboratory Innovation as a Tool for Newborn Screening Solutions Williford C Marci Sontag, PhD, MS, Center for Public Health Innovation APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
7 Sunday, April 7 8:30 am 9:00 am Welcome Session Moderators: E. Matt Charles, Illinois Department of Public Health Laboratory 9:00 am 10:30 am Session 1 - Current Recommended Uniform Screening Panel (RUSP) Conditions Moderators: George Dizikes, PhD, HCLD(ABB), Tennessee Department of Health: Laboratory Services Carla Cuthbert, PhD, Centers for Disease Control and Prevention The State of Newborn Screening Systems in the United States Careema Yusuf, MPH, Association of Public Health Laboratories Duarte Galactosemia: Shedding New Light on an Old Problem Angela Wittenauer, RN, BSN, Emory University New Disorders Screening Implementation for Mucopolysaccharidosis type I, Pompe, and X-Linked Adrenoleukodystrophy: Best Practices, Models, and Lessons Learned from the New Disorders Implementation Project Kshea Hale, MPH, Association of Public Health Laboratories Demographic Variability of Newborn α-l-iduronidase (IDUA) and Acid α-glucosidase (GAA) Enzyme Activities in Michigan Michael Sarzynski, Michigan Newborn Screening Laboratory 10:30 am 11:00 am Break Continental Foyer APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
8 11:00 am 12:30 pm Session 2 Health Information Technology Moderators: Ashleigh Ragsdale, MPH, Washington State Public Health Laboratory Brendan Reilly, Texas Department of State Health Services Sunday, April 7 APHL Health Information Technology (HIT) Activities: An Overview Sari Edelman, MPH, Association of Public Health Laboratories Informatics Needs Assessment based on the Newborn Screening Health Information Technology Resource Guide and Toolkit Mary Kate Yost-Daljev, PhD, J Michael Consulting The Effect of Electronic Reporting and Birth Registry Matching on Pulse Oximetry Screening in Newborns: A One-Year Report from Minnesota Amy Gaviglio, MS, CGC, Minnesota Department of Health Evaluating Return on Investment of Statewide Implementation of Electronic Demographic Data Reporting Anthony Steyermark, PhD, Minnesota Department of Health Towards a Newborn Screening Common Data Model David Jones, PhD, Utah Newborn Screening Program 12:30 pm 2:00 pm Lunch (on your own) 2:00 pm 4:00 pm Session 3 - Keynote Session Moderators: E. Matt Charles, Illinois Department of Public Health Laboratory Eric Blank, DrPH, Association of Public Health Laboratories D. Holmes Morton, PhD, Co-founder and Director, Clinic for Special Children Glen Nowak, PhD, Director, Center for Health & Risk Communication, University of Georgia APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
9 Sunday, April 7 4:00 pm 4:30 pm Break in the Exhibit Hall 4:00 pm 7:30 pm Exhibit Hall Open Posters Available for Viewing 4:30 pm 6:00 pm Session 4 Training/Education/Communication Moderators: Jennifer MacDonald, RN, BSN, MPH, Virginia Department of Health Dana Smith, RN, South Carolina Department of Health & Environmental Control Standardization in Newborn Screening Communication Adrianna Evans, MPH, Genetic Alliance Revamping Provider Educational Materials for Newborn Screening Referrals John Thompson, PhD, MPH, MPA, Washington State Public Health Laboratories Assessing Patient Comprehension and Preferred Formatting of Newborn Screening Result Reports Amy Gaviglio, MS CGC, Minnesota Department of Health Using Animated Video for Newborn Screening Parent Education Sylvia Mann, MS, CGC, Western States Genetic Services Collaborative The New Zealand Midwifery Model: An Exploration of the Education Required to Impact Sample Quality and Timliness for Newborn Metabolic Screening in New Zealand Joan Carll, RN, RM, LabPLUS Newborn Metabolic Screening APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
10 Sunday, April 7 6:00 pm 7:30 pm Welcome Reception in the Exhibit Hall 6:30 pm 7:00 pm Poster authors available to discuss their posters 7:30 pm 9:00 pm Short-term Follow-up Mixer Williford A APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
11 MONDAY, APRIL 8 6:30 am 6:00 pm Registration 8 th Street Registration 6:30 am 7:30 am Coffee Williford Foyer 7:00 am 8:00 am Innovate! 3 vendor presentations TBD Williford A-C 8:00 am 9:00 am Coffee Continental Foyer 8:30 am 10:00 am Session 5 Quality Improvement and Assurance Activities Moderators: Joseph Orsini, PhD, New York State Department of Health, Wadsworth Center Mary Seeterlin, PhD, Michigan Department of Health and Human Services Assessing Newborn Screening Demographic Data Quality Using Correlations with Analytes Travis Henry, PhD, State Hygienic Laboratory at the University of Iowa Strategies for Quality Improvement, Quality Control and Cut-off Management: TSH and IRT Kim Hart, MS, LCGC, Utah Department of Health Establishing Appropriate Cut-offs for Methionine Levels in Premature Newborns by Gestational Age and Nutritional Status Samantha Marcellus, MPH, The University of Iowa Stead Family Children s Hospital APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
12 Monday, April 8 Validating the QSight Tandem Mass Spectrometry System for GAA (acid α-glucosidase) and IDUA (α-iduronidase) Enzyme Screening in Dried Blood Spots with a 3 Hour Incubation Time Amy Hietala, MS, Minnesota Department of Health 10:00 am 10:30 am Break in the Exhibit Hall 10:00 am 4:30 pm Exhibit Hall Open Posters Available for Viewing 10:30 am 12:00 pm Session 6 Joint Session on QA/QC and Follow-up Moderators: Beth Vogel, MS, CGC, New York State Department of Health, Wadsworth Center Adrienne Manning, Connecticut Department of Public Health Baby Power: Improving Congenital Adrenal Hyperplasia Screening Performance with Neonatal Characteristics Hao Tang, PhD, California Department of Public Health Hemoglobin Variant Reporting in Newborn Screening Mary Rindler, Utah Department of Health Investigation of First Contact with Families Regarding Out-of-Range Newborn Screening Results Allison Wood, Genetic Alliance The Impossible is Possible: Transforming Alaska s NBS Program Sabra Anckner, RN, BSN, Alaska Division of Public Health Hurricane María: Experience of the Puerto Rico Newborn Screening Program Sulay Rivera, PhD, Puerto Rico Newborn Screening Program APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
13 Monday, April 8 12:00 pm 2:00 pm Awards Lunch and Ceremony Stevens Salon A 2:00 pm 3:30 pm Session 7 Financial, Legal, Ethical, Policy & Social Implications (FLEPSI) Moderators: Susan Tanksley, PhD, Texas Department of State Health Services John Thompson, PhD, MPH, MPA, Washington State Public Health Laboratories Understanding Newborn Screening Financial Models Nisha Quasba, Association of Public Health Laboratories Difficult Choices, Rewarding Outcomes: Delaware s Newborn Screening Program Michael Cellucci, MD, Nemours AI DuPont Hospital for Children Including ELSI Research Questions in Newborn Screening Pilot Studies Aaron Goldenberg, PhD, Case Western Reserve University Comparison of Video, App and Standard Consent Processes on Parental Decision Making for Residual Dried Blood Spot Research: A Randomized Controlled Trial Erin Rothwell, PhD, CTRS, University of Utah 3:30 pm 4:00 pm Break in the Exhibit Hall 4:00 pm 5:30 pm Session 8 We All Screen for Two Screens! Moderators: Rachel Lee, PhD, Texas Department of State Health Services Darren Michael, PhD, Colorado Department of Public Health and Environment The Lonely Newborn Screen: A Study of Linking Algorithms and Why Two Screen State Laboratories Do Not Receive Two Appropriately Timed Screens for All Newborns Brendan Reilly, Texas Department of State Health Services APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
14 Are Two Screens Necessary for Amino Acid, Fatty Acid Oxidation and Organic Acid Conditions? Patricia Hunt, Texas Deptartment of State Health Services Monday, April 8 The Benefits of a Second Newborn Screen to Detect SCID and Other T-cell Lymphopenias: A Four-Year Review in Washington State Caroline Nucup-Villaruz, PhD, Washington State Department of Health Challenges and Lessons Learned from One Year of X-ALD Newborn Screening in a Two-Screen State John Thompson, PhD, MPH, MPA, Washington State Public Health Laboratories Lysosomal Enzyme Activity Comparison between Initial and Second Newborn Specimens in Maryland Fizza Gulamali-Majid, PhD, Maryland Department of Health Laboratories Administration 6:00 pm 7:15pm Meet the Manufacturers Session Williford A-C Light hearted presentations from vendors along with snacks and beverages (not a meal) 7:30 pm 9:00 pm CDC Dialogue and Update on Our Collective Data Analytics Efforts Buckingham APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
15 TUESDAY, APRIL 9 6:30 am 5:15pm Registration 8 th Street Registration 6:30 am 7:00 am Coffee Williford Foyer 7:00 am 8:00 am Roundtables Status of Beta Thalassemia Reporting for Newborn Screening in the United States Williford A Tim Davis, Washington State Public Health Laboratories Taking Steps to Improve Newborn Screening Staff Morale Williford B Sarah Bradley, MS, CGC, New York State Department of Health Built to Last: Supporting a Long-Term Infrastructure for Newborn Screening Education Williford C Adrianna Evans, MPH, Genetic Alliance 8:30 am 10:00 am Session 9 International Perspectives Moderators: R. Rodney Howell, MD, University of Miami School of Medicine Joanne Mei, PhD, Centers for Diseases Control and Prevention High-Throughput Identification of Hemoglobinopathies & Thalassemias by HRAM/MS Zoltan Lukacs, PhD, Hamburg University Medical Center, Germany Performance of a Three-tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia Graham Sinclair, PhD, British Columbia Newborn Screening Program, Canada APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
16 Tuesday, April 9 Incorporation of CLIR Post Analytical Interpretative Tools in the Evaluation of the Dutch Newborn Screening Results Rose Maase, National Institute for Public Health and the Environment, The Netherlands Hematopoietic Stem Cell Transplantation and Newborn Screening in Developing Countries: MENA Update Issam Khneisser, Saint Joseph University, Lebanon A Novel Collaborative Newborn Screening Approach: Screening Program Located in a Tertiary Pediatric Hospital Clinical Laboratory Rachel Mador-House, MS, CGC, Maritime Newborn Screening Centre, Canada 10:00 am 10:30 am Break in the Exhibit Hall 10:00 am 4:00 pm Exhibit Hall Open Posters available for viewing 10:30 am 12:00 pm Session 10 Communicating with Families and the Public Moderators: Carol Johnson, University of Iowa Hospitals & Clinics Mary Kleyn, MS, Michigan Public Health Laboratory The X (ALD) Factor: Follow-Up and Clinical Perspectives After One Year of Screening in Minnesota Amy Gaviglio, MS, CGC, Minnesota Department of Health Public Health Newborn Screening Follow-up for X-linked Adrenoleukodystrophy, Mucopolysaccharidosis Type I, and Pompe Disease: Lessons Learned from a Multipronged Stakeholder Needs Assessment Elise Holmes, MPP, Minnesota Department of Health APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
17 Tuesday, April 9 Estimates of Treatment Discontinuation During First 3 Years Among Privately Insured US Children Born During and Diagnosed with Congenital Hypothyroidism Stuart Shapira, MD, PhD, Centers for Disease Control and Prevention Trying Times Call for Trying New Approaches! Expanding Follow-up System Capacity with Existing Resources through New Partnerships and Collaborations to Reduce Loss-to-Follow-up Julie Luedtke, Nebraska Newborn Screening Program Making Texas Smaller Finding the Hard-to Find Karen Hess, Texas Department of State Health Services 12:00 pm 1:30 pm Box Lunch (in the Exhibit Hall) Visit the exhibitors and posters 12:30 pm 1:00 pm Poster authors available to discuss their posters 1:30 pm 3:00 pm Session 11 Parent/Patient Panel Moderators: Nancy Giurato, PhD, Illinois Department of Public Health Assessing the Experience of Parents of Newborns Diagnosed with a Condition through Michigan s Newborn Screening Program Kristy Karasinski, MPH, Michigan Department of Health and Human Services Family Experiences After Diagnosis: An Assessment of Access and Availability of Care, Resources and Support Elise Holmes, MPP, Minnesota Department of Health Panel Speakers TBD APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
18 Tuesday, April 9 3:00 pm 4:00 pm Break in the Exhibit Hall with raffle drawing at 3:30 pm 4:00 pm 5:00 pm Session 12 Spinal Muscular Atrophy Moderators: Amy Gaviglio, MS, CGC, Minnesota Department of Health Guisou Zarbalian, MS, MPH, Association of Public Health Laboratories Challenges in Revalidation of the TREC qpcr Assay as a Multiplex SCID-SMA Assay Michele Caggana, ScD, New York State Department of Health, Wadsworth Center One Year Update: Population Wide Screening for Spinal Muscular Atrophy (SMA, due to a homozygous deletion of exon 7 in SMN1) and Severe Combined Immunodeficiency Andreas Rohrwasser, PhD, MBA, Utah Public Health Laboratories Implementation and One Year of Screening for Spinal Muscular Atrophy: The Minnesota Experience Carrie Wolf, MBS, Minnesota Department of Health Is it Really NOT SMA? Reassurance and Insights from 3rd Tier DNA Sequencing after High-Throughput Newborn Screening for SMA Binod Kumar, PhD, New England Newborn Screening Program 6:00 pm 10:00 pm Off-site Evening Social Sponsored by PerkinElmer, Inc APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
19 WEDNESDAY, APRIL 10 7:00 am 1:30 pm Registration 8 th Street Registration 7:00 am 8:00 am ISNS Membership Meeting Williford A 7:30 am 9:00 am Coffee Continental Foyer 8:30 am 10:00 am Session 13 Molecular Technology and Utility Moderators: Patricia Hunt, Texas Department of State Health Services Rosemary Hage, PhD, Ohio Department of Health Laboratories CYP21A2 Variant Panel as a 2nd Tier for Congenital Adrenal Hyperplasia Newborn Screening: Metrics from the Minnesota Experience Kyriakie Sarafoglou, MD, University of Minnesota Implementation of IRT-DNA-SEQ Algorithm Improves Cystic Fibrosis Newborn Screening in New York State Denise Kay, PhD, New York State Department of Health, Wadsworth Center Second-tier Sequencing Analysis for VLCAD Deficiency in Texas: The First 13 Months D Andra Luna, Texas Department of State Health Services Pilot Study for the Implementation of a Multi-Gene SCID Panel in Newborn Screening Colleen Stevens, PhD, New York State Newborn Screening Program Development and Roll-out of a Variant Database for Use by Newborn Screening Programs Jaime Hale, MS, New England Newborn Screening Program APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
20 Wednesday, April 10 10:00 am 10:30 am Break Continental Foyer 10:30 am 12:00 pm Session 14 Conditions Under Consideration Moderators: Michelle Caggana, ScD, New York State Department of Health, Wadsworth Center Sikha Singh, MHS, PMP, Association of Public Health Laboratories Management of Iowa s Newborn Screening Panel and Addition of New Conditions Kimberly Noble Piper, RN, BSN, CPH, CPHG, Iowa Department of Public Health Newborn Screening for Mucopolysaccharidoses: Pilot Studies and Biomarkers Michael Gelb, PhD, University of Washington Early Check: Initial Findings Don Bailey, PhD, RTI International DMDNBS Cloud: Creating the Evidence Base for Duchenne Muscular Dystrophy Newborn Screening Amy Brower, PhD, American College of Medical Genetics and Genomics Evaluation of a Suitable CK-MM Assay in Newborn Screening for Duchenne Muscular Dystrophy Mei Baker, MD, Wisconsin State Laboratory of Hygiene 12:00 pm 1:00 pm Special Session National Case-Level Reporting for Newborn Screening: Lessons Learned from Infectious Diseases David Wong, MD, US Department of Health and Human Services APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
21 Wednesday, April 10 1:00 pm Adjournment 1:30 pm 4:00 pm Optional tour of the Illinois State Newborn Screening Laboratory (Pre-registration is required) Please keep in mind that this schedule is a work in progress and is subject to change APHL Newborn Screening and Genetic Testing Symposium PRELIMINARY PROGRAM
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