Final Program 2019 APHL Newborn Screening and Genetic Testing Symposium - April 7 - 10, 2019 Chicago, IL
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#nbsgts
www.aphl.org /nbsgts
2019 APHL Newborn Screening
and Genetic Testing Symposium
April 7 – 10, 2019
Chicago, IL
Final Program
Strong Foundations
Lead to New Heights
Meeting at a Glance
TIME SUNDAY, APRIL 7 MONDAY, APRIL 8 TUESDAY, APRIL 9 WEDNESDAY, APRIL 10
7:00 am
Roundtables (3) Innovate! (3) Roundtables (3) ISNS Membership Meeting
7:30 am
8:00 am Break Break Break Break
8:30 am Welcome
Session 5 – Session 9 – Session 13 –
9:00 am
Quality Improvement Activities International Perspectives Molecular Tech & Utility
Registration
Session 1 –
9:30 am
Current RUSP Conditions
10:00 am Poster Speed Dating Break Break
10:30 am Break Break
Session 14 –
11:00 am Session 10 – Follow-up
Conditions under Consideration
Session 6 –
Registration
11:30 am Session 2 – HIT
Joint QA/QC - Follow-up
Exhibit Hall & Posters
Exhibit Hall & Posters
Registration
12:00 pm
Registration
Dessert in Exhibit Hall – Nat’l Case-level Reporting on NBS
12:30 pm
Visit exh/posters
Box lunch in Exhibit Hall –
1:00 pm Lunch (on your own) Adjournment
visit exh/posters
1:30 pm
Session 11 –
2:00 pm Awards Ceremony
Parent/Patient Panel
2:30 pm Session 3 – Keynote Session Newborn Screening Lab Tour
3:00 pm Session 7 – FLEPSI
Break – Raffle
3:30 pm
Exhibit Hall & Posters
4:00 pm Break Break
Session 12 – Spinal Muscular Atrophy
4:30 pm
Session 4 – Session 8 –
5:00 pm
Training/Ed/Communtion We All Screen for Two Screens!
5:30 pm
6:00 pm Break
6:30 pm Welcome Reception
Meet the Manufacturers
7:00 pm
7:30 pm Off-site Social 6:00 – 10:00 pm
CDC Discussion on collective data
8:00 pm
Short-term Follow-up Mixer analytics efforts
8:30 pm
9:00 pm
Dear Friends, Colleagues and Attendees, On behalf of the Association of Public Health Laboratories (APHL), Illinois Department of Public Health Division of Laboratories, the International Society for Neonatal Screening and the Symposium Planning Committee, it is our great pleasure to welcome you to the 2019 APHL Newborn Screening and Genetic Testing Symposium (NBSGTS). Welcome to the wonderful State of Illinois and to the great City of Chicago! Chicago is nicknamed the “City of the Broad Shoulders” which refers to the hard-working people who live in the city. This year’s theme for the symposium is “Strong Foundations Lead to New Heights.” As the newborn screening community addresses how best to incorporate new screening methods, disorders and address ethical issues, this is a chance for us to step back from all of our daily hard work and study the current realm of newborn screening as revealed by the many experienced speakers and presenters from around the world. The first day of the meeting will feature a Keynote panel discussion on “Beyond the Brochure: Building the Communication Bridge.” Each conference day will feature cutting edge presentations within several categories of plenary sessions. Morning Roundtable Sessions, Corporate Partner Presentations and an Evening Forum will provide opportunities for you to participate and focus more closely on specific issues or areas of expertise in smaller groups. Monday features an Awards Ceremony to recognize champions of Newborn Screening in four areas and Tuesday features the always cherished Parent/Patient Panel session. Wednesday concludes by keeping us abreast of the continual advances in Molecular testing and an opportunity to tour the Illinois Department of Public Health State Newborn Screening Laboratory. While you are here at NBSGTS 2019 in Chicago, we hope you experience and learn useful new things that you can take back and share with your colleagues at home, and that you will meet many new friends from across the country and around the globe who will become part of a long lasting network of support throughout your career in newborn screening. We hope that you’ll also take some time to relax from all the hard work and enjoy the city’s many wonderful restaurants and enjoy the beautiful environment and architecture. We would like to thank the members of the 2019 APHL Newborn Screening and Genetic Testing Symposium Planning Committee for contributing their time on conference calls and reviewing abstracts, and we are especially thankful for the work that each and every one of our colleagues contributes every day and the passion that you share in being part of Newborn Screening. Sincerely, E. Matt Charles Chief, Division of Laboratories, Illinois Department of Public Health and Chair, 2019 APHL NBSGTS Planning Committee
The Association of Public Health Laboratories
VISION: A healthier world through quality laboratory systems.
MISSION: Shape national and global health outcomes by promoting the value and contributions of public
health laboratories and continuously improving the public health laboratory system and practice.
The Association of Public Health Laboratories (APHL) is a non-profit 501(c)(3) organization
representing governmental laboratories that monitor and detect public health threats, including
emerging infectious disease surveillance, detection of metabolic and genetic conditions in
newborns, water contamination identification and foodborne outbreak detection. APHL members
are state, local, county and city public health laboratories, state and local environmental health
laboratories, state agricultural laboratories, corporations, individual and student members with an
interest in public health laboratory issues, and organizations that share common goals with APHL.
APHL is a national leader in:
• Scientific Expertise • Informatics • Laboratory Systems
• Education and Training • Quality Assurance • Global Laboratory Capacity
• Health Policy • Workforce Development
APHL Board of Directors
Joanne Bartkus, PhD, D(ABMM), Richard Steece, PhD, D(ABMM), Tamara Theisen, MT(ASCP),
Minnesota, President Tennessee, Member-at Large Saginaw County, Michigan,
Local Institutional Member
Grace Kubin, PhD, Texas, Denise Toney, PhD, HCLD(ABB),
President Elect Virginia, Member-at-Large Mark Wade, San Antonio,
Texas, Local Institutional Member
Ewa King, PhD, Rhode Island, Scott Zimmerman, DrPH,
Past President HCLD(ABB), North Carolina, Scott Becker, MS,
Member-at-Large Executive Director (ex-officio)
Bill Whitmar, MS, Missouri,
Secretary-Treasurer Maria Lucia Ishida, PhD,
New York, Public Health Associate
Institutional Member
2019 Newborn Screening and Genetic Testing Symposium Planning Committee
Chair – E. Matt Charles, R. Rodney Howell, MD, FAAP, Debi Sarkar, MPH, Health
Illinois Department of FACMG, University of Miami Resources and Services
Public Health Administration
Patricia Hunt, Texas Department
Michele Caggana, ScD, FACMG, of State Health Services Jackie Seisman, MPH,
New York State Department of Genetic Alliance
Rachel Lee, PhD, Texas
Health
Department of State Health Dana Smith, BSN, RN, South
Carla Cuthbert, PhD, FCCMG, Services Carolina Department of Health &
FACMG, Centers for Disease Environmental Control
Jennifer Macdonald, RN, BSN,
Control and Prevention
MPH, Virginia Department of Susan Tanksley, PhD, Texas
George Dizikes, PhD, HCLD(ABB), Health Department of State Health
Tennessee Department of Health: Services
Joseph Orsini, PhD, New York State
Laboratory Services
Department of Health Santosh Shaunak, Washington
Amy Gaviglio, MS, LCGC, State Department of Health
Konstantinos Petritis, PhD,
Minnesota Department of Health
Centers for Disease Control and Beth Vogel, MS, CGC, New York
Nancy Giurato, PhD, Illinois Prevention State Department of Health
Department of Public Health
Ashleigh Ragsdale, MPH,
Shannon Harrison, RN, BSN, LCCE, Washington State Department of
Illinois Department of Public Health Health
4 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAM
About This Symposium
• 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, international newborn screening
activities 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 major learning goals of this symposium are:
• Discuss and evaluate quality assurance and quality control measures for newborn
screening laboratories
• Describe state and international experiences with candidate conditions and clinical
outcomes in newborn screening
Who will Benefit from Attending this Symposium?
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 in
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 Continental Ballroom. The exhibit hall,
posters, breaks and lunch will take place one flight up in the International Ballroom.
Location/Hotel
The 2019 APHL NBSGTS is being held at the Hilton Chicago, 720 South Michigan Ave.,
Chicago, IL 60605. The hotel is located in downtown Chicago close to Lake Michigan
and the Chicago River. It is just steps away from numerous restaurants, shops
and entertainment.
5 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAM
Registration
The registration fee is $550. You may only register onsite at this time.
APHL’s Federal ID number is 52-1800436. Registrations cancelled 30 days prior to the
symposium will be refunded less a $100 administrative fee. Registrations cancelled less
than 30 days prior to the symposium will not be refunded.
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. This tour is currently full. Please meet near the
symposium registration desk by 1:15 pm. The bus will leave promptly at 1:30 pm and
will return no later than 4:00 pm. Last minute substitutions may occur if those with
reservations do not show.
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.
P.A.C.E. 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 P.A.C.E. credits by attending the entire symposium.
Florida and genetic counselor CEUs will also be offered.
Certified Public Health Recertification Credits
APHL is an approved provider of Certified in Public Health (CPH) recertification credits
through the National Board of Public Health Examiners (NBPHE). Attendees have the
opportunity to earn up to 20 hours of credit by attending the entire symposium. APHL will
not issue certificates of CPH credits earned. The attendee is responsible for keeping track
of the hours earned.
6 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAM
Continuing Medical Education/Continuing Nursing
Education Credits
CME and CNE accreditation is in progress.
Symposium 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:
0:00 AM
• 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 symposium
• APHL Blog daily symposium 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!
7 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMInternational Ballroom
Continental Ballroom (above Contintental)
Plenary Sessions Exhibits • Posters • Breaks
Reception • Lunch
STAIR Down to 1st Floor,
Continental Foyer Continental Foyer
Up from 1st Floor Down to 1st Floor
Hilton 2nd Floor
Exhibit Hall
Stairs to ESC ESC
Restrooms, Stairs up to 3rd Fl
2nd Fl and ESS
Hotel Floor Plans
R ACC Williford Rooms
Restrooms 3rd Fl LATO (Roundtables, Innovate!,
ESCA
Downstairs
Up for Exhibit Hall Down from Exhibit Hall Meet the Manufacturers)
STAIR Up ESC ESC
Meeting Buckingham
Registration Room
Gift
Shop 720 South Grill
Lobby
SNAX
Elevator
East 8th Street
Main Floor
Hilton 1st Floor
East Balbo Drive
Gift
Shop
Gift Guest
Great Hall
Shop Gift Check-In
Shop
Kitty O’Shea’s Main 720 South Bar
Entrance
8 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAM
South Michigan AvenueHotel Floor Plans
Williford Rooms
Hilton 3rd Floor
Williford Rooms
C
Roundtables • Innovate!
Meet the Manufacturers
Astoria
B
Room
A
Waldorf
Room
Elevator
Lobby
Exhibit Hall (2nd Floor)
STAIR
and Main Floor
Stairs down to
Foyer Foyer
Joliet
Marquette
Room
Room
9 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMProgram 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
This session will discuss challenges to conducting long term follow-up in newborn
screening programs as well as potential solutions in a roundtable discussion format.
• Kristi Bentler, MS, RN, PHN, Minnesota Department of Health
Successes and Challenges of Using Post-Analytical Tools by
Newborn Screening Labs
Williford B
In this roundtable, representatives from Georgia, New York, and Tennessee will give
overviews of their efforts to incorporate the use of post analytical tools, and discuss
their successes and challenges encountered with doing so. There will then be ample
opportunity for questions and answers, and time for discussion among attendees on
how best (or whether) to implement these tools.
• Arthur Hagar, PhD, Georgia Department of Public Health
10 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMSunday, April 7
Innovation as a Tool for Newborn Screening Solutions
Williford C
Following a brief training on innovation techniques, participants will work in
facilitated small groups to identify approaches for innovative solutions in newborn
screening. Participants will leave with approaches to spur innovation in their state
public health systems.
• Marci Sontag, PhD, MS, CI International
Day One
588-834-19, 6.5 contact hours (P.A.C.E.)
At the conclusion of today, the participant will be able to:
• Describe the landscape of US newborn screening programs in 2018 as well as share
resources developed by NBS programs
• Discuss lessons learned and best practices that resulted from the New Disorders
Implementation Project
• Identify areas of need among state NBS laboratories to successfully implement
electronic messaging and potential solutions to meet those needs
• Identify methods used to evaluate the cost efficiency of electronic data reporting for
newborn screening programs
• Discuss methods for standardizing communication in newborn screening systems
• Compare methods of the newborn metabolic screening in New Zealand between
midwives and other maternity practitioners
7:30 am – 9:00 am
Coffee Break
Continental Foyer
8:30 am – 9:00 am
Welcome Session
Continental Ballroom
Moderator: E. Matt Charles, Illinois Department of Public Health
• Joanne Bartkus, PhD, D(ABMM), Minnesota Department of Health
• Jelili Ojodu, MPH, Association of Public Health Laboratories
11 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMSunday, April 7
9:00 am – 10:30 am
Current Recommended Uniform Screening Panel (RUSP)
Conditions
Continental Ballroom
This session will feature presentations that provide an overview of NBS systems
across the US, and discuss new findings from newborn screening of various conditions
currently on the RUSP.
Moderators: George Dizikes, PhD, HCLD(ABB), Tennessee Department of Health
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 Department of Health and Human Services
10:30 am – 11:00 am
Break
Continental Foyer
12 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMSunday, April 7
11:00 am – 12:30 pm
Health Information Technology
Continental Ballroom
This session will start with a presentation providing an overview of recent activities of
the HIT workgroup, and will be followed by presentations from states discussing their
experiences with implementing new electronic reporting initiatives as well as a
summary of findings from a needs assessment using the Newborn Screening HIT
“Building Blocks” Guide.
Moderators: Ashleigh Ragsdale, MPH, Washington State Department of Health
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 Department of Health
12:30 pm – 2:00 pm
Lunch (on your own)
13 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMSunday, April 7
2:00 pm – 4:00 pm
Keynote Session
Beyond the Brochure: Building the Communication Bridge
Continental Ballroom
This session will feature presentations from speakers who have worked to communicate
highly technical information to non-scientific audiences; the speakers will also reflect
on their experiences with addressing misinformation or negative publicity, and how to
engage hard-to-reach populations in newborn screening.
Moderators: E. Matt Charles, Illinois Department of Public Health
Eric Blank, DrPH, Association of Public Health Laboratories
• D. Holmes Morton, MD, Central Pennsylvania Clinic
• Glen Nowak, PhD, Center for Health & Risk Communication,
University of Georgia
4:00 pm – 4:30 pm
Break in the Exhibit Hall
International Ballroom
4:00 pm – 7:30 pm
Exhibit Hall Open
International Ballroom
Posters Available for Viewing
(Posters P-001 - P-080 are on the left side of the hall and P-081 - P-163 are on the right.)
4:30 pm – 6:00 pm
Training/Education/Communication
Continental Ballroom
The presentations in this session will cover communication and education materials and
methods with parents and providers regarding NBS conditions and/or screening results.
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
14 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMSunday, April 7
Revamping Provider Educational Materials for Newborn Screening Referrals
• John Thompson, PhD, MPH, MPA, Washington State Department of Health
Assessing Patient Comprehension and Preferred Formatting of Newborn Screening
Result Reports
• Katherine Schroepfer, University of Minnesota
Using Animated Video for Newborn Screening Parent Education
• Sylvia Mann, MS, CGC, Western States Regional Genetics Network
The New Zealand Midwifery Model: An Exploration of the Education Required to Impact
Sample Quality and Timeliness for Newborn Metabolic Screening in New Zealand
• Joan Carll, RN, RM, LabPLUS Newborn Metabolic Screening, New Zealand
6:00 pm – 7:30 pm
Welcome Reception in the Exhibit Hall
International Ballroom
Beverages sponsored by Integrated Software Solutions
6:30 pm – 7:00 pm
Poster authors P-001 - P-082 available to discuss their posters
International Ballroom
7:30 pm – 9:00 pm
Short-term Follow-up Mixer
Williford A
15 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMMonday, April 8
Innovate!
Monday, April 8, 7:00 am – 8:00 am
Baebies, Inc. • Williford A
Beyond SEEKER: Baebies’ Second Tier Sequencing & Assay Expansion
You’ve heard about SEEKER, our FDA-cleared newborn screening platform for Pompe & MPS I
(currently in 6 state labs). But Baebies’ vision doesn’t end there! In addition to SEEKER, Baebies
is continuously innovating to deliver products and services to advance newborn screening.
Hear from genetics expert Dr. Richard Parad on how Baebies’ second tier genetic sequencing
compares to second tier biochemical testing. Learn how our assay pipeline expansion supports
future RUSP conditions. And get introduced to the Baebies team of over 90 staff members based
at our headquarters in Durham, NC — driven by our mission to save lives and make lives better
for millions of children worldwide.
Speakers: Richard B. Parad, MD, MPH, Neonatologist, Brigham and Women’s Hospital &
Associate Professor of Pediatrics, Harvard Medical School
Andy Bhattacharjee, PhD, VP of Laboratory Services, Baebies
Candice Brannen, PhD, Senior Director of Lab Products, Baebies
OZ Systems & STACS DNA • Williford B
What you don’t know…who will it hurt?
Overly complex hospital workflows, unreliable couriers and a lack of data are common
pre-analytical challenges faced by state newborn screening programs. This session will discuss
your challenges and how an integrated, end-to-end statewide system designed specifically for
NBS can help mitigate risks and improve patient safety and intervention timeliness. Learn how
you can save time, effort, money, and, most importantly, babies’ futures.
Speakers: Terese Finitzo, CEO, OZ Systems
Heather MacIntosh, VP Marketing, STACS DNA
PerkinElmer • Williford C
Workflow Improvements in Newborn Screening Laboratories
PerkinElmer will lead a discussion regarding current workflows for routine experimentation
in newborn screening laboratories. Audience participation is requested as we explore future
workflow improvements in primary and secondary screening that include automation and
advances in sample management.
Moderator: Aaron Risinger, MBA, Sr. Mass Spectrometry Sales Specialist, PerkinElmer Diagnostics
16 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMMONDAY, APRIL 8
6:30 am – 6:00 pm
Registration
8th Street Registration
6:30 am – 7:30 am
Coffee and Light Continental Breakfast
Williford Foyer
7:00 am – 8:00 am
Innovate!
Baebies, Inc.
Williford A
OZ Systems
Williford B
PerkinElmer
Williford C
Day Two
588-835-19, 6.0 contact hours (P.A.C.E.)
At the conclusion of today, the participant will be able to:
• Describe how demographic data quality can be assessed using correlations
with analytes
• Analyze different methods for establishing cut off values for methionine and how
new methods could lower the occurrence of false-positives
• Identify ways to establish cutoffs for CAH based on different neonatal and
environmental factors and categories
• Discuss findings from a study that evaluated how health care professionals
initially communicate out-of-range results to parents
• Review examples of the financial systems newborn screening programs are
currently implementing in order to run daily operations
• Identify the role ELSI can play when adding new conditions to state newborn
screening panels
• Evaluate the effectiveness and utility of two screens to identify newborns with
amino acid, fatty acid oxidation, and organic acid disorders using MS/MS
• Describe Washington’s experiences with implementing X-ALD, as a two-screen state
17 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMMonday, April 8
7:30 am – 9:00 am
Coffee
Continental Foyer
8:30 am – 10:00 am
Quality Improvement and Assurance Activities
Continental Ballroom
The presentations in this session will highlight activities targeted to quality
improvement and quality assurance of newborn screening processes. Strategies
for decreasing methionine false-positives will be presented as well as strategies
for management and review of cutoffs for thyroid stimulating hormone (TSH) and
immunoreactive trypsinogen (IRT).
Moderators: Joseph Orsini, PhD, New York State Department of Health
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
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
Poster Speed Dating Session
Continental Ballroom
This session will include short presentations of select posters. The full posters may be
seen in the exhibit hall. See the list of presenters in the following pages.
Moderator: Jelili Ojodu, MPH, Association of Public Health Laboratories
18 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMMonday, April 8
Poster Speeding Dating Presentations
Monday, April 8 – 10:00 am
P-006 Quality Improvement Efforts in Arkansas - A Five Year Update
Presenter: Pat Purifoy, Arkansas Department of Health
P-010 Newborn Screening for G6PD Deficiency and the Mutational Spectrum in Vietnam
Presenter: Luyen Quoc Hai, Bionet Vietnam Biotechnology
P-017 Short-Term Follow-Up for Newborns with an ABCD1 Variant of Uncertain Significance
Presenter: Hao Tang, California Department of Public Health
P-020 Critical Congenital Heart Disease Screening in the United States
Presenter: Marci Sontag, CI International
P-030 Harmonizing Domestic and International Newborn Screening Labs MS/MS Analyte
Results and Cutoffs Using the CDC NSQAP Reference Materials
Presenter: Austin Pickens, Centers for Disease Control and Prevention
P-043 Comparison of Electrospray and Impactor (Unispray) Ionization Tandem Mass
Spectrometry for the Analysis of Newborn Screening Biomarkers
Presenter: Gyliann Pena, Centers for Disease Control and Prevention
P-045 Does Increasing Birth Weight Interfere with Acylcarnitine and Amino Acid Results on the
Newborn Screen?
Presenter: Erica Wright, Children’s Hospital Colorado/University of Colorado
P-046 A Missed Case of Classic Galactosemia: A Consequence of Too Many False Positives?
Presenter: Sarah Viall, Children’s National Medical Center
P-053 From Idea to Impact: A Case Study on Making Change Through Education
Presenter: Jaclyn Seisman, Genetic Alliance
P-055 Newborn Screening Lab Reports: From Read Out to Communications Opportunity
Presenter: Adrianna Evans, Genetic Alliance
P-062 Use of a Deliberative Community Engagement Model to Obtain Public
Recommendations about Adding New Conditions to Iowa’s Newborn Screening Panel
Presenter: Kimberly Noble Piper, Iowa Department of Public Health
P-069 Age at Enrollment in Children’s Special Health Care Services (CSHCS) among Children
Diagnosed with a Disorder on the Michigan Newborn Screening (NBS) Blood Spot Panel
Presenter: Mary Kleyn, Michigan Department of Health and Human Services
P-074 Long Term Follow-up with Families that Have a Child with Critical Congenital Heart
Disease (CCHD): Findings from Local Public Health (LPH) Nursing Assessments
Presenter: Heather Pint, Minnesota Department of Health
P-076 Improvements in Pre- and Post-Analytical Efficiencies - What Does Operations Mean for
Newborn Screening?
Presenter: Jill Simonetti, Minnesota Department of Health
P-078 Incorporating Race/Ethnic-specific Physiological Variation into Newborn Screening
Algorithms: The Case of Total Galactose
Presenter: Amy Gaviglio, Minnesota Department of Health
19 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMMonday, April 8
P-084 The BabySeq Project: Genomic Findings and Preliminary Survey and Economic Results
Presenter: Richard Parad, Brigham & Womens’ Hospital
P-092 Hitting the “Ct”-Spot: A Three-Year Retrospective Analysis of SCID Screening using Ct
Values in New Jersey
Presenter: Miriam Schachter, New Jersey Department of Health
P-095 Use of LEAN Principles to Address Data Entry Delays and Their Impact on Achieving
Timely Reporting of Results
Presenter: Beth Vogel, New York State Department of Health
P-102 Collection of Dried Blood Spot Samples on Recently Printed Filter Paper Cards Inhibits
Biotinidase Activity
Presenter: Matthew Henderson, Children’s Hospital of Eastern Ontario
P-109 Potential Use of Unmanned Aerial Systems to Transport Newborn Screening Specimens
Presenter: Scott Shone, RTI International
P-112 The North Carolina X-linked Adrenoleukodystrophy Pilot Study: Challenges and
Lessons Learned
Presenter: Jennifer Taylor, RTI International
P-116 Peer Network Resource Center and Proficiency Sample Exchange Highlight
Programmatic Differences
Presenter: M. Christine Dorley, Tennessee Department of Health
P-118 Faster, Better, AND Cheaper Severe Combined Immunodeficiency Screening of Newborn
Specimens in Texas
Presenter: Maria Nolen, Texas Department of State Health Services
P-119 11 Year look at CAH Screening in Texas
Presenter: Karen Hess, Texas Department of State Health Services
P-121 Decreased Concentration of Isovaleryl-Carnitine in Patients with Maple Syrup Urine
Disease (MSUD)
Presenter: Ralph Fingerhut, University Children’s Hospital, Switzerland
P-127 Timeliness and the Victorian Newborn Screening Program: A 7 Year Review
Presenter: Sally Morrissy, Victorian Clinical Genetics Service, Australia
P-129 From Brochure to Booklet: Redesigning the Parent Guide to Newborn Screening in
Washington State
Presenter: Gauri Gupta, Washington State Department of Health
P-131 Validation of a Multiplexed Real-time PCR Assay to Detect SCID and SMN1 Homozygous
Exon 7 Deletion and Droplet Digital PCR Assay to Assess SMN2 Copy Numbers in
Newborn Screening for Spinal Muscular Atrophy
Presenter: Mei Baker, Wisconsin State Laboratory of Hygiene
P-136 Wisconsin’s Approach to Addressing Timely Specimen Re-collection after Unsatisfactory
Specimen Submission
Presenter: Patrice Held, Wisconsin State Laboratory of Hygiene
P-137 Combining Newborn Metabolic and DNA Analysis for Second-tier Testing of
Methylmalonic Acidemia
Presenter: Curt Scharfe, Yale School of Medicine
For more details, be sure to view these posters in the exhibit hall through 4:00 pm Tuesday, April 9.
20 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMMonday, April 8
10:00 am – 5:00 pm
Exhibit Hall Open
International Ballroom
Posters Available for Viewing
(Posters P-001 - P-080 are on the left side of the hall and P-081 - P-163 are on the right.)
10:30 am – 11:00 am
Break in the Exhibit Hall
International Ballroom
Sponsored by Astoria-Pacific, Inc.
11:00 am – 12:30 pm
Joint Session on QA/QC and Follow-up
Continental Ballroom
This session will cover presentations relating to both follow-up and quality assurance/
quality control issues, with a focus on cutoff establishment for CAH, hemoglobin variant
reporting, communication of out-of-range results with families and the recovery and
experience of the Puerto Rico NBS program after Hurricane Maria.
Moderators: Beth Vogel, MS, CGC, New York State Department of Health
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
• Kim Hart, MS, LCGC, 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
21 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMMonday, April 8
12:30 pm – 2:00 pm
Box Lunch (in the Exhibit Hall)
International Ballroom
Visit the exhibitors and posters
1:00 pm – 1:30 pm
Poster authors P-083 – P-163 available to discuss their posters
International Ballroom
2:00 pm – 2:30 pm
Awards Ceremony
Continental Ballroom
Moderator: Scott Becker, MS, Association of Public Health Laboratories
2:30 pm – 4:00 pm
Financial, Legal, Ethical, Policy & Social Implications (FLEPSI)
Continental Ballroom
This session will provide perspectives from state programs on issues surrounding
consent, storage and use of residual dried blood spots for newborn screening as well
as an overview of various financial models in use by NBS programs.
Moderators: Susan Tanksley, PhD, Texas Department of State Health Services
John Thompson, PhD, MPH, MPA, Washington State Department of Health
Understanding Newborn Screening Financial Models
• Nisha Quasba, MPH, 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
22 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMMonday, April 8
4:00 pm – 4:30 pm
Break in the Exhibit Hall
International Ballroom
4:30 pm – 6:00 pm
We All Screen for Two Screens!
Continental Ballroom
This session will feature presentations from two-screen states (Texas, Washington,
and Maryland) and discuss their experiences and findings related to screening of
certain conditions under a two-screen model.
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
Are Two Screens Necessary for Amino Acid, Fatty Acid Oxidation and Organic
Acid Conditions?
• Patricia Hunt, Texas Department 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, MD, 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 Department of Health
Lysosomal Enzyme Activity Comparison between Initial and Second Newborn
Specimens in Maryland
• Fizza Gulamali-Majid, PhD, Maryland Department of Health
23 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMMonday, April 8
6:30 pm – 7:45pm
Meet the Manufacturers Session
Williford A-C
Light hearted presentations from vendors along with snacks and beverages (not a meal)
6:30 pm Baebies, Inc.
6:45 pm OZ Systems
7:00 pm Astoria-Pacific, Inc.
7:15 pm Cambridge Isotope Laboratories
7:30 pm PerkinElmer
7:45 pm – 9:00 pm
CDC Dialogue and Update on Our Collective Data Analytics Efforts
Buckingham
24 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMTUESDAY, APRIL 9
6:30 am – 5:15pm
Registration
8th Street Registration
6:30 am – 7:30 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
This session will discuss findings from a recent survey of NBS programs on beta
thalassemia and other hemoglobin variant reporting; there will be dialogue and open
discussion of ideas for education materials regarding how to better screen and report
beta thalassemia in the newborn period.
• Tim Davis, Washington State Department of Health
Taking Steps to Improve Newborn Screening Staff Morale
Williford B
This session will feature a review and results from the NY NBS program’s staff morale
improvement campaign; an open dialogue will follow to discuss ideas from other states
about strategies to improve morale.
• Sarah Bradley, MS, CGC, New York State Department of Health
Built to Last: Supporting a Long-Term Infrastructure for
Newborn Screening Education
Williford C
This session will discuss ways that newborn screening programs can promote skill
building in education throughout the newborn screening system, as well as how sharing
information and/or use of consultants can help alleviate financial burden.
• Adrianna Evans, MPH, Genetic Alliance
25 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMTuesday, April 9
Day Three
588-836-19, 5.5 contact hours (P.A.C.E.)
At the conclusion of today, the participant will be able to:
• Describe the British Columbia newborn screening program’s experiences with
implementing IRT-DNA-IRT for cystic fibrosis
• Discuss the benefits of performing allogenic HSCT early in life for certain diseases
identified during NBS in the MENA region
• List the impacts on the follow-up and clinical system after the addition of XALD to
Minnesota’s state NBS panel
• Discuss the collaborative efforts implemented by Nebraska’s NBS team to
address barriers that lead to loss to follow-up, and results of those efforts
• Describe how communication with parents about their NBS experiences can help
identify potential areas of improvement
• Assess the ways in which access and availability of care, resources and support
impacts families during the NBS and diagnosis processes in Minnesota
• Discuss Minnesota’s implementation and first year of experience screening for
spinal muscular atrophy (SMA).
• Compare the results of second-tier and third-tier tests using DNA sequencing for
SMA screening
8:30 am – 10:00 am
International Perspectives
Continental Ballroom
This session will showcase international newborn screening efforts underway in
Germany, Canada (British Columbia and the Maritimes), the Netherlands, and the
MENA region.
Moderators: R. Rodney Howell, MD, University of Miami School of Medicine
Joanne Mei, PhD, Centers for Disease 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
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
26 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMTuesday, April 9
Hematopoietic Stem Cell Transplantation and Newborn Screening in Developing
Countries: MENA Update
• Issam Khneisser, MS, MBA, 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
International Ballroom
10:00 am – 4:00 pm
Exhibit Hall Open
International Ballroom
Posters available for viewing
(Posters P-001 - P-080 are on the left side of the hall and P-081 - P-163 are on the right.)
10:30 am – 12:00 pm
Communicating with Families and the Public
Continental Ballroom
Many state programs encounter issues surrounding educating parents on newborn
screening as well as effectively engaging the public in understanding the goals
of newborn screening. This session will provide perspectives on how to improve
communication with families and the public. Innovative methods and strategies to
reducing loss-to-follow-up will also be highlighted.
Moderators: Carol Johnson, University of Iowa Hospitals & Clinics
Mary Kleyn, MS, Michigan Department of Health and Human Services
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
27 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMTuesday, 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 Department of Health and Human Services
Making Texas Smaller – Finding the Hard-to Find
• Karen Hess, Texas Department of State Health Services
12:00 pm – 1:30 pm
Lunch (on your own)
12:45 pm – 1:30 pm
Dessert (in the Exhibit Hall)
International Ballroom
Visit the exhibitors and posters
1:30 pm – 3:00 pm
Parent/Patient Panel
Continental Ballroom
This session will feature families affected by genetic disorders. They will present their
stories as they choose and will not have a script. The disorders represented come from
the Recommended Uniform Screening Panel (RUSP), secondary targets, and disorders
under investigation. The session will also feature presentations discussing family/
parent experiences from MI and MN after receiving a diagnosis.
Moderators: Shannon Harrison, RN, BSN, LCCE, Illinois Department of Public Health
Lewis Hsu, MD, PhD, University of Illinois at Chicago
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
28 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMTuesday, April 9
Family Experiences After Diagnosis: An Assessment of Access and Availability of
Care, Resources and Support
• Elise Holmes, MPP, Minnesota Department of Health
• Parent Panel
• Pam Kowalczyk (adult with PKU and parent of child with PKU)
• Jill Schindler (parent of child with MPS I - Hurler)
• TaLana Hughes (parent of child with Sickle Cell disease)
Executive Director, Sickle Cell Disease Association of Illinois
3:00 pm – 4:00 pm
Break in the Exhibit Hall with raffle drawing at 3:30 pm
International Ballroom
4:00 pm – 5:00 pm
Spinal Muscular Atrophy
Continental Ballroom
The session will discuss progress made in screening and treating SMA, with a focus
on assay methods. Participants will have a better understanding for how to implement
screening for SMA into their newborn screening programs.
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
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 Department of Health
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
29 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMTuesday, April 9
6:00 pm – 10:00 pm
Off-site Evening Social
Sponsored by PerkinElmer, Inc.
30 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMWEDNESDAY, APRIL 10
7:00 am – 1:30 pm
Registration
8th Street Registration
7:00 am – 8:00 am
ISNS Membership Meeting
Williford A
7:30 am – 9:00 am
Coffee
Continental Foyer
Day Four
588-837-19, 3.0 contact hours (P.A.C.E.)
At the conclusion of today, the participant will be able to:
• Evaluate NYS process and outcomes of implementing IRT-DNA-SEQ algorithm for
NBS of cystic fibrosis
• Assess the utility of a SCID NGS panel for infants with low TREC values and
results from the pilot study.
• Describe Iowa’s process for review and consideration of conditions to the Iowa
NBS panel
• Analyze CK-MM assays used for newborn screening for Duchenne Muscular
Dystrophy
8:30 am – 10:00 am
Molecular Technology and Utility
Continental Ballroom
The focus of this session is on national efforts to expand molecular testing for several
disorders through sequencing, including congenital adrenal hyperplasia, severe
combined immunodeficiency (SCID) and cystic fibrosis. An algorithm for targeted next
generation sequencing for dried blood spots will also be highlighted.
Moderators: Patricia Hunt, Texas Department of State Health Services
Rosemary Hage, PhD, Ohio Department of Health
31 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMWednesday, April 10
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
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 Department of Health
Development and Roll-out of a Variant Database for Use by Newborn
Screening Programs
• Jaime Hale, MS, New England Newborn Screening Program
10:00 am – 10:30 am
Break
Continental Foyer
10:30 am – 12:00 pm
Conditions Under Consideration
Continental Ballroom
There have been considerable advances in the development of new therapies for
complex genetic conditions. The availability of these therapies accelerates the need for
the development of technologies for screening. This session will focus on development
of an assay and building the evidence base for DMD screening. Washington’s pilot
study experience for mucopolysaccharidoses (MPS) and Iowa’s process for adding
conditions to its state panel will also be discussed in detail.
Moderators: Michelle Caggana, ScD, New York State Department of Health
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
32 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMWednesday, April 10
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
Continental Ballroom
This session will review the system for reporting cases of notifiable infectious diseases
from states to the CDC and highlight how such data are analyzed and disseminated at
both the state and national levels. Best practices potentially transferable to newborn
screening programs will be discussed.
National Case-Level Reporting for Newborn Screening: Lessons Learned from
Infectious Diseases
• David Wong, CAPT MD, US Department of Health and Human Services
• Coleen Boyle, PhD, MS, Centers for Disease Control and Prevention
1:00 pm
Adjournment
1:30 pm – 4:00 pm
Optional tour of the Illinois State Newborn Screening Laboratory
(Pre-registration is required)
33 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMINNOVATING
FOR A HEALTHIER
WORLD.
STEP INTO THE FUTURE.
Visit PerkinElmer at Booth 201 to learn more about:
• NeoBase™ 2 Non-derivatized MSMS kit
• NeoLSD™ MSMS Kit
• Migele™ Gel Electrophoresis Unit
• QSight® 210 MD Screening System
• Customer Contracted Manufacturing Services
• PerkinElmer Genomics Sequencing Services and 2nd Tier Molecular Testing
Services
NEW! For a complete insight on newborn
screening products, services and latest updates,
visit our website:
www.newbornscreening.perkinelmer.comExhibit Hall Schedule
April 7–9, 2019
International Ballroom
Sunday, April 7 4:00 pm – 7:30 pm Hall Open
4:00 pm – 4:30 pm Break
6:00 pm – 7:30 pm Welcome Reception
Monday, April 8 10:00 am – 5:00 pm Hall Open
10:30 am – 11:00 am Break
12:30 pm – 2:00 pm Box Lunch
4:00 pm – 4:30 pm Break
Tuesday, April 9 10:00 am – 4:00 pm Hall Open
10:00 am – 10:30 am Break
12:45 pm – 1:30 pm Dessert
3:00 pm – 4:00 pm Break (Raffle Drawing 3:30 pm)
Meet the Manufacturers Schedule
Monday, April 8
6:30 pm – 7:45 pm
Williford A-C
6:30 pm Baebies, Inc.
6:45 pm OZ Systems
7:00 pm Astoria- Pacific, Inc.
Exhibitors
7:15 pm Cambridge Isotope Laboratories
7:30 pm PerkinElmer
35 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMVisit the Exhibitors!
Win Prizes!
Visit with the vendors and win prizes! Take the exhibit raffle card from your tote bag and
visit each exhibit booth. Ask one of the booth personnel to sign their initials in the box
corresponding to their booth number. When all of the boxes are filled, turn the card in
at the registration desk. Cards must be turned in at the registration desk no later than
3:00 pm on Tuesday, April 9. Be sure to include your name on the card. Winners of the
prizes will be announced starting at 3:30 pm on Tuesday in the exhibit hall. You must
be present to win.
PRIZES
• Two coach tickets on Delta Airlines to anywhere within the continental United States
• Complimentary registration to the 2020 Newborn Screening & Genetic Testing
Symposium
• One coach ticket on United Airlines to anywhere within the continental United States
• One coach airline ticket on Delta Airlines to anywhere in the continental United States
• Laptop backpack, stainless steel water bottle and wireless mouse (compliments of
RTI International)
• Kindle Paperwhite e-reader with cover (compliments of APHL)
• Chicago mystery bag (compliments of Jelili Ojodu)
• 1 coach ticket on American Airlines to anywhere within the continental United States
• $100 (compliments of Baebies, Inc.)
Exhibitors
• Apple 3 Watch (compliments of EBF, Inc.)
• $100 Visa gift card (compliments of Cambridge Isotope Laboratories)
• Chillax Inflatable Lounger (2) (compliments of OZ Systems)
• NBS04 -Newborn Screening by Tandem Mass Spectrometry, 2nd Edition and a
$25 Amazon gift card (compliments of CLSI)
36 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMInternational Ballroom
Exhibits • Posters • Breaks • Receptions
118 119 218 219 221 318
116 317
114 315
112 313
Posters Food and Posters
1– 80 Beverage 81–163
108 309
106 307
104 305
102 103 202 306 303
201
100 101 200 304 301
Posters Posters
STAIR Down to 1st Floor,
Continental Foyer
Up from 1st Floor Down to 1st Floor
ESC ESC
Stairs up to 3rd Fl
Williford Rooms
(Roundtables, Innovate!,
Meet the Manufacturers)
Exhibitors
100/102 Baebies 201 PerkinElmer
101 Luminex Corporation 202 Agena Biosciences Exhibitors
103 CLSI 219 Waters Corporation
104 Baby’s First Test 221 AveXis
106 Sebia, Inc. 301 STAT Courier
108 Cambridge Isotope Laboratories 303 National Coordinating Center
112 Quantabio for Regional Genetics Networks
114 RTI International 305/307 Centers for Disease Control
& Prevention
116 Greenwood Genetic Center
309 OZ Systems
118/119/ NBS V.O.I.C.E
218 313 EBF, Inc.
118 Integrated Software Solutions 315 Bio-Rad Laboratories
119 Astoria-Pacific, Inc. 317 Mayo Clinic Laboratories
218 Microelectronics Systems 318 SNP Biotechnology R&D Ltd.
200 Natus Medical, Inc. APHL Newborn Screening and
Genetics Program
(Continental Ballroom Foyer)
37 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAMYou can also read
