I want to be a part of it!

The New York Academy of Medicine (NYAM) is a leading voice for innovation in public health. Throughout its 177-year history, NYAM has uniquely championed bold changes to the systems that perpetuate health inequities and keep all communities from achieving good health.

Since its founding just before the start of the Civil War, The New York Academy of Medicine has been a vital source for effective and, often, radical thought and action regarding the healthcare and public health problems that affect people in New York City and beyond.

Meet a few of this year’s presenters

  • Eric Green

    National Human Genome Research Institute (NHGRI)

  • Ambroise Wonkam

    Johns Hopkins University School of Medicine

  • Jeffrey Brosco

    Health Resources & Services Administration (HRSA)

  • Robert C. Green

    BabySeq

  • David Bick

    Genomics England

  • Melissa Wasserstein

    ScreenPlus

  • Scott Shone

    NC State Laboratory of Public Health

  • Katherine Semrau

    Ariadne Labs

  • Amy Gaviglio

    Centers for Disease Control and Prevention (CDC)

  • Michele Caggana

    New York State Department of Health (NYSDOH)

  • Suzanne Cordovado

    Centers for Disease Control and Prevention (CDC)

  • Petros Tsipouras

    FirstSteps, Greece

  • Wendy Chung

    GUARDIAN Study

  • Holly Peay

    EarlyCheck

  • Stephen Kingsmore

    BeginNGS

  • Nicolas Encina

    ICoNS’24 Executive Director & Host

  • Adonis Georgiadis

    Greece Minister of Health

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ICoNS’24 Organizing Committee

Nicolas Encina

Executive Director, ICoNS  Harvard School of Public Health

Dr Melissa Wasserstein

Chief, Division of Pediatric Genetic Medicine Children's Hospital at Montefiore

Rose Heald

Project Manager, Special Projects, ICoNS  Brigham & Women's Hospital

Nicole Kelly

The Children’s Hospital at Montefiore,     The University Hospital for Albert Einstein College of Medicine

Dr Nidhi Shah

Lead, Data and Analytics, ICoNS         Geisel School of Medicine at Dartmouth

Dr Michael Gelb

Professor of Chemistry    University of Washington
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Annual Convening of All Global Thought-Leaders and Stakeholders in Newborn Sequencing

Representatives Across the Entire Healthcare Ecosystem From Over 50 Countries

Clinicians • Researchers • Policy Makers • Technology • Therapeutics • Advocacy • Diagnostics • Ethics • Hospital Systems • Laboratories

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Day 1 October 9

Morning Session

Day 1 Morning Session
Registration & Breakfast
Oct 9
Registration & Breakfast

Registration and breakfast

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Opening Remarks & Day 1 Agenda
Oct 9
Opening Remarks & Day 1 Agenda

Nicolas Encina, Exec. Director ICoNS, Director of Strategy Precision Population Health, Ariadne Labs, Harvard School of Public Health

Opening Remarks and Review of Day 1 Agenda

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Welcome Address
Oct 9
Welcome Address

Dr Melissa Wasserstein, ScreenPlus

Welcome Address by conference co-host

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Keynote Presentation
Oct 9
Keynote Presentation

Dr Eric Green, National Human Genome Research Institute (NHGRI)

Making Genomic Medicine Mainstream: How Do We Get There?

[Introduction by Dr Robert Green, ICoNS Co-Chairman]

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Panel: NBSeq in 3/5/10 Years

Moderator: Dr Robert Green, Genomes2People, BabySeq, ICoNS

Panelists: Dr Eric Green (NHGRI), Dr Wendy Chung (GUARDIAN Study), Dr Mark Yandell (U. of Utah)

Imagining the evolution of newborn sequencing from the view of researchers, clinicians, technologists, and policy-makers.

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Break
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GEM Transformer: AI enabled, Automated interpretation
Oct 9
GEM Transformer: AI enabled, Automated interpretation

Dr Mark Yandell (U. of Utah)

GEM Transformer: AI enabled, Automated interpretation for NICU and population Newborn Sequencing that is fast, accurate and scalable

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Rapid Care at Scale
Oct 9
Rapid Care at Scale

Dr Stephen Kingsmore, Rady Children's Institute for Genomic Medicine, BeginNGS

Rapid Care at Scale

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The Future of Genetic Therapies
Oct 9
The Future of Genetic Therapies

Presenter: Dr. Christopher Borges, Sanofi

The Future of Genetic Therapies

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Poster Walk

Two-minute lightning talks by some of our top rated abstract submissions

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Lunch Break: Networking, Posters & Seminars

Seminar: Enabling and accelerating innovation in population health at scale

Presenter: Dr. Abdul Shaikh, Global Lead for Population Health, AWS

Time: 12:15 PM - 12:30 PM

(in-person only)

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Afternoon Session

Featured
ICoNS Gene List Subcommittee
Oct 9
ICoNS Gene List Subcommittee

Presenters: Dr Lilian Downie (BabyScreen+) & Dr Nina Gold (MassGeneral Hospital)

An update on progress by ICoNS Gene List Subcommittee.

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ICoNS Economics Subcommittee
Oct 9
ICoNS Economics Subcommittee

Presenter: Dr Hadley Smith (Harvard Pilgrim) & Dr James Buchanan (Queen Mary Univ.)

Update on progress by the ICoNS Economics Subcommittee

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ICoNS Data Sharing Subcommittee
Oct 9
ICoNS Data Sharing Subcommittee

Dr Nidhi Shah, Dartmouth Univ. Medical, ICoNS

Update on progress by the ICoNS Data Sharing Subcommittee

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ICoNS Policy Subcommittee

Presenter: Nicolas Encina (ICoNS), Dr Petros Tsipouras (FirstSteps), Dr Tom Brewster (MaineHealth)

Update on progress by the ICoNS Policy Subcommittee

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Top Abstract

Presenter: Dr Richard Parad, Brigham and Women's Hospital

Genomic Newborn Screening for Variants in Cancer Predisposition Syndrome Genes Associated with Increased Risk for Developing Early Onset Childhood Cancers: A Retrospective Approach to Developing Evidence-Based Gene Lists

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Top Abstract

Presenter: Heidi Cope, RTI International

Multiplexed Screening for Monogenic Conditions and Type 1 Diabetes Risk Using Genome Sequencing: The Early Check Experience

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Top Abstract

Presenter: Dr François Boemer, BabyDetect

Population-based first-tier genomic newborn screening: 18-months results review of BabyDetect project

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Break
Oct 9
Break
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Top Abstract

Presenter: Dr Ulrik Stoltze, PREDISPOSED

The PREDiSPOSED Project: Ultralow-cost Rare DNA Variant Detection in Large Groups Using Combinatorial Pooling

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Top Abstract

Presenter: Dr Sebastian Lunke, BabyScreen+

The First 500: Insights Into Challenges Of Delivery, Automation And Variant Interpretation At The Halfway Mark Of The BabyScreen+ Study

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Top Abstract

Presenter: Megan Clarke, ScreenPlus

ScreenPlus: A General Update

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Top Abstract
Oct 9
Top Abstract

Presenter: Dr Wendy Chung, GUARDIAN Study

Expanded Newborn Screening Using Genome Sequencing For Early Actionable Conditions: results for the first 10,000 participants enrolled in the GUARDIAN study

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Top Abstract
Oct 9
Top Abstract

Presenter: Dr Lilian Downie, BabyScreen+

Scalable informed consent using an online platform, Genetics Adviser. Results from the first 500 families in BabyScreen+

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Panel: VUS. Equity & Accuracy
Oct 9
Panel: VUS. Equity & Accuracy

Moderator: Dr Melissa Wasserstein, ScreenPlus

Panelists: Dr Sri Raj, Dr Vaidehi Jobanputra, Dr Aaron Goldenberg

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Newborn Sequencing: Navigating Societal Context and Healthcare Innovation
Oct 9
Newborn Sequencing: Navigating Societal Context and Healthcare Innovation

Presenter: Amy Gaviglio, CDC

Newborn Sequencing: Navigating Societal Context and Healthcare Innovation

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Keynote Presentation
Oct 9
Keynote Presentation

Presenter: Dr Michele Caggana, New York State Department of Health

A Partnership to Expand and Enhance Newborn Screening in New York State -- The GUARDIAN Study

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Closing Remarks
Oct 9
Closing Remarks

Nicolas Encina, Exec. Director ICoNS, Director of Strategy Precision Population Health, Ariadne Labs, Harvard School of Public Health

Closing Remarks

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Cocktail Reception
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Poster Sessions

Day 1 Poster Walk & Evening Session

Poster-Talks
Poster & Lighting Talk 1
Oct 9
Poster & Lighting Talk 1

Estimating the sensitivity of genomic screening for treatable inherited metabolic disorders

Presenter: Dr Sarah Bick

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Poster & Lighting Talk 2
Oct 9
Poster & Lighting Talk 2

Forgotten Dissenters: A Scoping Review of Parents Who Decline Newborn Screening

Presenter: Taylor Montgomery

Read more →
Poster & Lighting Talk 3
Oct 9
Poster & Lighting Talk 3

From DBS to WGS: Rapid genomic DNA isolation from Dried Blood Spots and Whole Genome library preparation using sparQ DBS Library Prep Kit

Presenter: Dr Subrata Panja

Read more →
Poster & Lighting Talk 4
Oct 9
Poster & Lighting Talk 4

Furthering the Dialogue on Newborn Sequencing: Insights from Neonatal Rapid Whole Genome Sequencing

Presenter: Robert Rigobello

Read more →
Poster & Lighting Talk 5
Oct 9
Poster & Lighting Talk 5

Lessons Learned From Genomic Newborn Sequencing of 12,000+ Infants Across Two States

Presenter: Dr Paul Kruszka

Read more →
Poster & Lighting Talk 6
Oct 9
Poster & Lighting Talk 6

Optimism and pessimism about genomic medicine among parents of infants who have received study results: Findings from the BabySeq Project

Presenter: Madison Hickingbotham

Read more →
Poster & Lighting Talk 7
Oct 9
Poster & Lighting Talk 7

ScreenPlus parental perspectives on trust and the utilization of residual dried blood spots

Presenter: Katrina Paleologos

Read more →
Poster & Lighting Talk 8
Oct 9
Poster & Lighting Talk 8

Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and other actionable neurometabolic disorders of early infancy

Presenter: Dr Stephen Kaler

Read more →
Poster & Lighting Talk 9
Oct 9
Poster & Lighting Talk 9

Why so different? Exploring the disorders included in newborn genome sequencing

Presenter: Dr Thomas Minten

Read more →
Poster & Lighting Talk 10
Oct 9
Poster & Lighting Talk 10

10K Newborn Genome Screening Project in Qingdao, China: clinical findings and precision health insights

Presenter: Dr Lennart Hammarstrom

Read more →
Poster & Lighting Talk 11
Oct 9
Poster & Lighting Talk 11

A pilot study of the Anatolian Newborn Screening Project

Presenter: Xinmeng Liao

Read more →
Poster & Lighting Talk 12
Oct 9
Poster & Lighting Talk 12

A streamlined newborn sequencing research workflow for detecting genomic variants using a curated gene panel

Presenter: Dr Minna Niemelä

Read more →
Poster & Lighting Talk 13
Oct 9
Poster & Lighting Talk 13

Applications of a Rapid Real Time Analysis System for Whole Genome/Exome Sequencing in Newborn Screening

Presenter: Yun-Ru Chen

Read more →
Poster & Lighting Talk 14
Oct 9
Poster & Lighting Talk 14

Massively Parallel Biochemical Annotation of VOUS to Support Newborn Sequencing

Presenter: Dr Michael Gelb

Read more →
Poster & Lighting Talk 15
Oct 9
Poster & Lighting Talk 15

Non-medical developmental supports following newborn sequencing: Lessons from SeqFirst

Presenter: Dr Kate MacDuffie

Read more →

Day 1 Evening Session

Posters
Poster 40
Oct 9
Poster 40

The Role of the EHR in Newborn Sequencing Projects

Presenter: Brooke Greenstein

Read more →
Poster 39
Oct 9
Poster 39

FirstSteps: The newborn genome initiative in Greece

Presenter: Dr Petros Tsipouras

Read more →
Poster 38

Use of Whole Genome Sequencing to Screen 100,000 Newborns for Treatable Genetic Disorders

Presenter: Alice Tuff-Lacey

Read more →
Poster 37
Oct 9
Poster 37

The Screen4Care project: defining genetic newborn screening operational pipeline and ethical issues to run a large genomic screening pilot study in EU countries

Presenter: Dr Alessandra Ferlini

Read more →
Poster 36
Oct 9
Poster 36

The Clinician-reported Genetic testing Utility InDEx for Newborn Screening (C-GUIDE NBSeq): Development and content validity

Presenter: Dr Salma Shickh

Read more →
Poster 35
Oct 9
Poster 35

Psychosocial impact analysis in PERIGENOMED: example of a mixed design developed through collective intelligence

Presenter: Camille Level

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Poster 34
Oct 9
Poster 34

Phenotype Associations from a Comprehensive Database of Long-Chain Fatty Acid Oxidation Disorder Gene Variants

Presenter: Dr Nicole Miller

Read more →
Poster 33
Oct 9
Poster 33

A collaborative working group of experts to define the list of diseases to be screened in the French genomic newborn screening project PERIGENOMED

Presenter: Dr Laurence Faivre

Read more →
Poster 32
Oct 9
Poster 32

Parental Perspectives on the Implications of Expanded and Universal Newborn Screening

Presenter: Nicole Kelly

Read more →
Poster 31
Oct 9
Poster 31

NGS-technologies in the Dutch newborn bloodspot screening “CRADLE-Study” – ICoNS’24

Presenter: Els Voorhoeve

Read more →
Poster 30
Oct 9
Poster 30

Newborn sequencing using comprehensive genome analysis across racial and ethnic groups: Results from the BabySeq Project

Presenter: Rose Heald

Read more →
Poster 29
Oct 9
Poster 29

Infants with carrier status in BabySeq and Comparison to other Carrier Screening

Presenter: Dr José Manuel González de Aledo Castillo

Read more →
Poster 28
Oct 9
Poster 28

Implementing BeginNGS using prequalified genomic newborn screening analyses: lessons learned from retrospective and exploratory prospective studies

Presenter: Dr Meredith Wright

Read more →
Poster 27
Oct 9
Poster 27

Genome Screening of Newborns: what can we find and what’s next?

Presenter: Dr Jorune Balciuniene

Read more →
Poster 26
Oct 9
Poster 26

GEN SEQ TRAIL: Genomic Newborn Sequencing: Therapy Ready And Information for Life (TRAIL)

Presenter: Shelley Pirreca

Read more →
Poster 25
Oct 9
Poster 25

From Feasibility to Framework: Advancing Genomic Newborn Screening through Technical Feasibility and Ethical Considerations in Germany

Presenter: Dr Heiko Brennenstuhl

Read more →
Poster 24
Oct 9
Poster 24

Exploring the feasibility, acceptability and impact of genomic newborn screening for rare diseases in England: A Process and Impact Evaluation of the Generation Study

Presenter: Dr James Buchanan

Read more →
Poster 23
Oct 9
Poster 23

Ethical Challenges in Newborn Genomic Sequencing: Assessing Investigators’ Perspectives

Presenter: Dr Hadley Stevens Smith

Read more →
Poster 22
Oct 9
Poster 22

digitalMLPA complements sequence analysis with the detection of CNVs, complex regions, F8 inversions and methylation changes in Fragile X and imprinting disorders

Presenter: Dr Joery den Hoed

Read more →
Poster 21
Oct 9
Poster 21

Development and analytical validity assessment of bioinformatics solution for genomic newborn screening in the Generation Study

Presenter: Dr Dalia Kasperaviciute

Read more →
Poster 20
Oct 9
Poster 20

Design, implementation and validation of a genetic newborn screening study for multiple rare diseases: the "Genoma-Puglia" project

Presenter: Dr Mattia Gentile

Read more →
Poster 19
Oct 9
Poster 19

Assessing Family Outcomes of Newborn Screening

Presenter: Dr Don Bailey

Read more →
Poster 18
Oct 9
Poster 18

Patient-Driven Partnership: Developing a Gene Panel for Actionable Conditions for Newborn Screening Using a Collaborative Approach

Presenter: Dr Gulcin Gumus

Read more →
Poster 17

Considerations for the expansion of NBS programmes: insights from the Rare Barometer survey on opinion of people living with a rare disease

Presenter: Dr Gulcin Gumus

Read more →
Poster 16
Oct 9
Poster 16

Blockchain-Enabled Family Vaults: A Global and Enduring Framework for Newborn Genomic Data Governance

Presenter: Daniel Uribe

Read more →

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Day 2 October 10

Morning Session

Day 2 Morning Session
Registration & Breakfast
Oct 10
Registration & Breakfast

Registration tables and morning networking

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Welcome Back & Day 2 Agenda
Oct 10
Welcome Back & Day 2 Agenda

Nicolas Encina, Exec. Director ICoNS, Director of Strategy Precision Population Health, Ariadne Labs, Harvard School of Public Health

Welcome back & agenda

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Global Trends: Introduction
Oct 10
Global Trends: Introduction

Presenter: Nicolas Encina, ICoNS, Harvard School of Public Health

Introduction to Global Trends

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Global Trends: Americas
Oct 10
Global Trends: Americas

Presenter: Dr David Bick, Generation Study

A summary of newborn sequencing work in the Americas

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Global Trends: Europe
Oct 10
Global Trends: Europe

Dr Francois Boemer, Clinical Laboratory Head, BabyDetect

A summary of newborn sequencing work in Europe.

Read more →
Global Trends: Middle East
Oct 10
Global Trends: Middle East

Dr Ammira Akil, Qatar Newborn Genome Sequencing

A summary of newborn sequencing work in the Middle East

Read more →
Global Trends: Asia
Oct 10
Global Trends: Asia

Dr Dau-Ming Niu, Taipei Veterans General Hospital

A summary of newborn sequencing work in Asia

Read more →
Global Trends: Oceania
Oct 10
Global Trends: Oceania

Dr Sebastian Lunke, PI of BabyScreen+

A summary of newborn sequencing work in Oceania

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Applying BetterBirth trial and implementation lessons to Newborn Sequencing in LMIC
Oct 10
Applying BetterBirth trial and implementation lessons to Newborn Sequencing in LMIC

Dr Katherine Semrau, Deputy Director, Ariadne Labs; Director, BetterBirth Program

Applying BetterBirth trial and implementation lessons to Newborn Sequencing in LMIC

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Break
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Keynote Presentation: Implications of Newborn Sequencing in the Current Public Health Paradigm
Oct 10
Keynote Presentation: Implications of Newborn Sequencing in the Current Public Health Paradigm

Presenter: Dr Scott Shone, Association of Public Health Laboratories (APHL)

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State Newborn Screening as a Public Health Program
Oct 10
State Newborn Screening as a Public Health Program

Presenter: Dr Jeff Brosco, Health Resources and Services Administration (HRSA)

Read more →
It Will Take a Village. CDC’s Role in Newborn Sequencing
Oct 10
It Will Take a Village. CDC’s Role in Newborn Sequencing

Presenter: Dr Suzanne K. Cordovado, Centers for Disease Control & Prevention (CDC)

Read more →
Fireside Chat: NBSeq in Greece, A National Initiative
Oct 10
Fireside Chat: NBSeq in Greece, A National Initiative

Moderator: Dr Holly Peay, EarlyCheck

Guests: Dr Dimitris Thanos, Greece Ministry of Health & Dr Petros Tsipouras, FirstSteps

Read more →
Lunch Break: Networking, Posters & Seminars

Seminar: Data Sharing and Federated Queries

Presenter: Dr Tom DeFay, Alexion

Time: 12:15 PM - 12:30 PM

(in-person only)

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Afternoon Session

Featured
Broadening Diversity in Genomics: The BabySeq Experience
Oct 10
Broadening Diversity in Genomics: The BabySeq Experience

Presenter(s): Drs Robert Green and Ingrid Holm, BabySeq

Broadening Diversity in Genomics: The Babyseq Experience

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Clinical development of therapeutic platforms for monogenic diseases and implications for NBS

Presenter: Dr Philip J. (P.J.) Brooks, NIH

Clinical development of therapeutic platforms for monogenic diseases and implications for NBS

Read more →
Societal Implications of gNBS
Oct 10
Societal Implications of gNBS

Presenter: Dr Wendy Chung, GUARDIAN Study

Societal Implications of gNBS

Read more →
Investor's perspective on NBSeq
Oct 10
Investor's perspective on NBSeq

Presenter: Dr Walt Kowtoniuk, Third Rock Ventures

Investor's perspective on NBSeq

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Private/Public Debate

Moderator: Dr Stephen Kingsmore, BeginNGS

Panelists: Dr Walt Kowtoniuk (Third Rock Ventures), Hans Keil (Nurture Genomics), Amy Gaviglio (CDC), Dr Jeff Brosco (HRSA)

What might the future look like?

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Break
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Keynote Presentation: Newborn Sequencing and Perspectives in Sickle Cell Disease Therapeutics
Oct 10
Keynote Presentation: Newborn Sequencing and Perspectives in Sickle Cell Disease Therapeutics

Presenter: Dr Ambroise Wonkam, MD PhD, Professor of Genetic Medicine, and Director, McKusick-Nathans Institute & Department of Genetic Medicine. Johns Hopkins School of Medicine

Newborn Sequencing and Perspectives in Sickle Cell Disease Therapeutics

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Newborn Sequencing in the Social Context

Moderator: Dr Ana Iltis. Director, Center for Bioethics, Health and Society, Wake Forest Univ.

Panelists: Dr Ammira Akil (Qatar Newborn Genome Sequencing), Dr Sebastian Lunke (BabyScreen+), Dr Francois Boemer (BabyDetect), Dr Melissa Wasserstein (ScreenPlus)

Newborn Sequencing in the Social Context

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Preparing for a Future that is Here

Presenter: Maria Kefalas

The Why: Patient Voice

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A Look Back: NBS & Robert Guthrie

Presenter: Patricia Guthrie

A Look Back: Successes and Learnings

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Fireside Chat: From Guthrie to Newborn Sequencing

Moderator: Dr David Bick, ICoNS Co-Chairman, Generation Study

Guests: Patricia Guthrie & Dr Edwin Naylor

Read more →
Closing Announcements (ICoNS'25)
Oct 10
Closing Announcements (ICoNS'25)

Nicolas Encina, Exec. Director ICoNS, Director of Strategy Precision Population Health, Ariadne Labs, Harvard School of Public Health

Announcing ICoNS’25

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Travel & Accommodations

  • Special note to exhibitors, speakers and delegates.

    ICoNS is NOT affiliated or related to any travel agencies or destination management companies and will never solicit you for flights or accommodations.

    It is important to be aware that you may be contacted by phone, fax, or email by third party companies that act as travel agencies, wholesalers or destination management companies to solicit you with aggressive or deceptive tactics for room reservations. Room poachers and pirates may also misrepresent themselves as the official conference housing bureau and may illegally use the conference name or logo, however these companies are neither related nor affiliated with ICoNS and its meetings in any way.

 

Please note that we are not working with any travel agencies for this event. Third-party communication on travel or accommodation should be disregarded.

Sponsors

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Partners

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