Advisory Committee on Heritable Disorders
in Newborns and Children

Upcoming Meeting
November 1-2, 2018

The draft agenda for the November meeting is below, the final agenda will be posted no later than 48 hours prior to the meeting.

Please note:  Workgroups will meet prior to the ACHDNC meeting on Thursday, November 1, 2018  from 10:30am – 12:30pm

Thursday, November 1, 2018

1:30 – 1:45 PM
  • Welcome
  • Roll Call
  • Opening Remarks
  • August 2018 Minutes


Joseph Bocchini, MD
Committee Chair
Professor and Chairman,
Department of Pediatrics,
Louisiana State University
Catharine Riley, PhD, MPH
Designated Federal Official
Health Resources and Services Administration
1:45 – 2:15 PM Public Comment
2:15 – 2:45 PM Condition Nomination for Cerebrotendinous Xanthomatosis (CTX) Scott Shone, PhD
Committee Member
2:45 – 3:30 PM Baby’s First Test Natasha Bonhomme
Genetic Alliance
3:30– 3:45 PM Break
3:45 – 5:15 PM Education Activities in  Newborn Screening –  PANEL Beth Tarini, MD, MS, FAAP (Moderator)
Committee Member
Associate Director, Center for Translational Science, Children’s National Health System
Jackie Seisman, MPH
Assistant Director of Maternal & Child Health, Genetic Alliance
Susan Berry, MD
Committee Member
Professor and Director, Division of Genetics and Metabolism, University of MN
Debbie Freedenberg, M.D., Ph.D.
Medical Director, Newborn Screening and Genetics, Texas Dept of State Health Services
Kimberly Noble Piper
Executive Officer, Center for Congenital and Inherited, Iowa Department of Public Health

Friday, November 2, 2018

9:30 –  9:45 AM
  • Welcome
  • Roll Call


Joseph Bocchini, MD
Committee Chair
Catharine Riley, PhD, MPH
Designated Federal Official, HRSA
9:45 – 11:15 AM Genomic Sequencing in Newborn Screening: Ethical, Legal, and Social Implications Cynthia Powell, MD (Moderator)
Committee Member
Professor of Pediatrics and Genetics
Pediatric Genetics and Metabolism
The University of North Carolina at Chapel Hill
John Lantos, MD
Director of Pediatric Bioethics and Professor of Pediatrics, University of Missouri-Kansas City School of Medicine
Barbara Koenig, PhD
Professor of Medical Anthropology & Bioethics and Director of  Bioethics, University of California at San Francisco
Josephine Johnston, MS
Director of Research
The Hastings Center
11:15 – 11:45 AM Ethical, Legal, Social and Policy Considerations for Newborn Screening Pilot Studies Jeffrey Brosco, MD, PhD
Committee Member 
11:45 – 12:45 PM Lunch
12:45 – 1:05 PM Education and Training Workgroup Update Beth Tarini, MD
Committee Member
Chair, Education & Training Workgroup
1:05 – 1:25 PM Follow-Up and Treatment Workgroup Update Jeffrey Brosco, MD, PhD
Committee Member
Chair, Follow up & Treatment Workgroup
1:25 – 1:45 PM Laboratory Standards and Procedures Workgroup Update Kellie Kelm, PhD
Ex-Officio Committee Member, FDA Chair, Laboratory Standards and Procedures Workgroup
1:45 – 2:05 PM Ad-Hoc Workgroup Interpreting NBS Results Mei Baker, MD
Committee Member
2:05 – 2:15 PM New Business Joseph Bocchini, MD
Committee Chair