Preliminary Program - APHL · Preliminary Program April 7 – 10, 2019 Chicago, IL Strong Foundations Lead to New Heights #nbsgts ... Topics include molecular technologies, current

2019 APHL Newborn Screening and Genetic Testing Symposium

Preliminary Program

April 7 – 10, 2019Chicago, IL

Strong Foundations Lead to New Heights

#nbsgts www.aphl.org /nbsgts

2 | 2019 APHL Newborn Screening and Genetic Testing Symposium | PRELIMINARY PROGRAM

About APHLAPHL 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 ConferenceThe 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 InformationThe 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 Continental Ballroom. The exhibit hall, posters, breaks and lunch will take place one flight up in the International Ballroom.


Optional Tour of the Illinois State Newborn Screening LaboratoryAn 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.

RegistrationAdvance 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 www.aphl.org/nbsgts.

HotelHilton Chicago Hotel720 South Michigan Ave.Chicago, IL 60605312.922.4400www.chicago.hilton.com

APHL has negotiated a block of rooms split between $229.00 and $219.00 (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 800.445.8667 or 312.922.4400 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.

http://www.aphl.org/nbsgts

http://www.chicago.hilton.com

https://book.passkey.com/event/49666293/owner/2874/home


Consent to Use Photographic ImagesRegistration 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 AppAccess 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

• 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!

0:00 AM


GOLD CIRCLE:

• PerkinElmer

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

SILVER CIRCLE:

• Baebies

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.

Visit These Exhibitors in the Exhibit Hall (As of December 12, 2018)

• PerkinElmerTote bags, hotel key cards,

general conference support

• NBS V.O.I.C.E.Tote bags, water bottles

• Integrated Software SolutionsWelcome Reception beverages

• Astoria-Pacific, Inc.Monday morning coffee break

• BaebiesPad folios

Thanks to Our Sponsors!

• NBS V.O.I.C.E. (comprised of the following):

• Astoria-Pacific, Inc.• Integrated Software Solutions• Microelectronic Systems


SATURDAY, APRIL 63:00 pm – 7:00 pmRegistration8th Street Registration

SUNDAY, APRIL 76:30 am – 6:30 pmRegistration8th Street Registration

6:30 am – 7:30 amCoffeeWilliford Foyer

7:00 am – 8:00 am

Roundtables Public Health Newborn Screening Long Term Follow-Up Opportunities and ChallengesWilliford A• Kristi Bentler, MS, RN, PHN, Minnesota Department of Health

Successes and Challenges of Using Post-Analytical Tools byWilliford B• Arthur Hagar, PhD, Georgia Public Health Laboratory

Innovation as a Tool for Newborn Screening SolutionsWilliford C• Marci Sontag, PhD, MS, Center for Public Health Innovation

Program Highlights


Sunday, April 7

8:30 am – 9:00 am

Welcome SessionContinental BallroomModerators: E. Matt Charles, Illinois Department of Public Health Laboratory

9:00 am – 10:30 am

Session 1 - Current Recommended Uniform Screening Panel (RUSP) ConditionsContinental BallroomModerators: 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 amBreakContinental Foyer


Sunday, April 7

11:00 am – 12:30 pm

Session 2 – Health Information TechnologyContinental BallroomModerators: Ashleigh Ragsdale, MPH, Washington State Public Health Laboratory

Brendan Reilly, Texas Department of State Health Services

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 pmLunch (on your own)

2:00 pm – 4:00 pm

Session 3 - Keynote SessionContinental BallroomModerators: 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


Sunday, April 7

4:00 pm – 4:30 pmBreak in the Exhibit HallInternational Ballroom

4:00 pm – 7:30 pmExhibit Hall Open International BallroomPosters Available for Viewing

4:30 pm – 6:00 pm

Session 4 – Training/Education/CommunicationContinental BallroomModerators: 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


Sunday, April 7

6:00 pm – 7:30 pm

Welcome Reception in the Exhibit HallInternational Ballroom

6:30 pm – 7:00 pmPoster authors available to discuss their postersInternational Ballroom

7:30 pm – 9:00 pmShort-term Follow-up MixerWilliford A


MONDAY, APRIL 86:30 am – 6:00 pm

Registration8th Street Registration


7:00 am – 8:00 am

Innovate!3 vendor presentations – TBDWilliford A-C

8:00 am – 9:00 amCoffeeContinental Foyer

8:30 am – 10:00 am

Session 5 – Quality Improvement and Assurance Activities Continental BallroomModerators: 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


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 amBreak in the Exhibit HallInternational Ballroom

10:00 am – 4:30 pmExhibit Hall Open International BallroomPosters Available for Viewing

10:30 am – 12:00 pm

Session 6 – Joint Session on QA/QC and Follow-upInternational BallroomModerators: 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


Monday, April 8

12:00 pm – 2:00 pmAwards Lunch and CeremonyStevens Salon A

2:00 pm – 3:30 pm

Session 7 – Financial, Legal, Ethical, Policy & Social Implications (FLEPSI)Continental BallroomModerators: 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 pmBreak in the Exhibit HallInternational Ballroom

4:00 pm – 5:30 pm

Session 8 – We All Screen for Two Screens! Continental BallroomModerators: 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


Monday, April 8

Are Two Screens Necessary for Amino Acid, Fatty Acid Oxidation and Organic Acid Conditions?• Patricia Hunt, Texas Deptartment of State Health Services

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 SessionWilliford A-CLight hearted presentations from vendors along with snacks and beverages (not a meal)

7:30 pm – 9:00 pmCDC Dialogue and Update on Our Collective Data Analytics EffortsBuckingham


TUESDAY, APRIL 96:30 am – 5:15pm



7:00 am – 8:00 am

RoundtablesStatus of Beta Thalassemia Reporting for Newborn Screening in the United StatesWilliford A• Tim Davis, Washington State Public Health Laboratories

Taking Steps to Improve Newborn Screening Staff MoraleWilliford B• Sarah Bradley, MS, CGC, New York State Department of Health

Built to Last: Supporting a Long-Term Infrastructure for Newborn Screening EducationWilliford C• Adrianna Evans, MPH, Genetic Alliance

8:30 am – 10:00 am

Session 9 – International PerspectivesContinental BallroomModerators: 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


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 amBreak in the Exhibit HallInternational Ballroom

10:00 am – 4:00 pmExhibit Hall OpenInternational BallroomPosters available for viewing

10:30 am – 12:00 pm

Session 10 – Communicating with Families and the Public Continental BallroomModerators: 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


Tuesday, April 9

Estimates of Treatment Discontinuation During First 3 Years Among Privately Insured US Children Born During 2010-2014 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 pmBox Lunch (in the Exhibit Hall)International BallroomVisit the exhibitors and posters

12:30 pm – 1:00 pmPoster authors available to discuss their postersInternational Ballroom

1:30 pm – 3:00 pm

Session 11 – Parent/Patient PanelContinental BallroomModerators: 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


Tuesday, April 9

3:00 pm – 4:00 pmBreak in the Exhibit Hall with raffle drawing at 3:30 pmInternational Ballroom

4:00 pm – 5:00 pm

Session 12 – Spinal Muscular AtrophyContinental BallroomModerators: 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 pmOff-site Evening SocialSponsored by PerkinElmer, Inc.


WEDNESDAY, APRIL 107:00 am – 1:30 pm


7:00 am – 8:00 am

ISNS Membership MeetingWilliford A

7:30 am – 9:00 amCoffeeContinental Foyer

8:30 am – 10:00 am

Session 13 – Molecular Technology and UtilityContinental BallroomModerators: 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


Wednesday, April 10

10:00 am – 10:30 amBreakContinental Foyer

10:30 am – 12:00 pm

Session 14 – Conditions Under ConsiderationContinental BallroomModerators: 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 SessionContinental Ballroom

National Case-Level Reporting for Newborn Screening: Lessons Learned from Infectious Diseases• David Wong, MD, US Department of Health and Human Services


Wednesday, April 10

1:00 pmAdjournment

1:30 pm – 4:00 pmOptional 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.

Documents

Preliminary Program - APHL · Preliminary Program April 7 – 10, 2019 Chicago, IL Strong Foundations Lead to New Heights #nbsgts ... Topics include molecular technologies, current