Advisory Committee on Heritable Disorders
in Newborns and Children

Upcoming Meetings
March 22, 2019 – Webinar
April 23-24, 2019 – In-Person and Webcast

Click here to download the final agenda for the November 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

1:30PM – 1:45PM
  • 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
1:45PM – 2:15PM Public Comment
2:15PM – 3:00PM Condition Nomination for Cerebrotendinous Xanthomatosis (CTX) Scott Shone, PhD
Committee Member
3:00PM – 3:15PM Break
3:15PM  – 4:00PM Baby’s First Test Natasha Bonhomme
Chief Strategy Officer, Genetic Alliance
4:00PM – 5:30PM 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
Debra Freedenberg, MD, PhD
Medical Director, Newborn Screening and Genetics, Texas Dept of State Health Services
Susan Berry, MD
Committee Member
Professor and Director, Division of Genetics and Metabolism, University of MN
Kimberly Noble Piper, RN
Executive Officer, Center for Congenital and Inherited, Iowa Dept of Public Health

Friday, November 2, 2018

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


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