Program

October 13

09:00-10:00	Registration and coffee
10:00	Start of the program
17:00	End of the program
19:00	Conference dinner

60 Years of Newborn Screening: Experiences and What's on the Horizon

Venue: Sune Bergströms Aula, Karolinska University Hospital

Moderators: Anna Wedell and Ulrika von Döbeln

09.00-10.00	Registration and coffee
10.00-10.05	Welcome address
10.05-10.15	Patricia Guthrie, M.A., daughter of Robert Guthrie
	Title
10.15-10.30	Marcus Strandepil, Chairman of the Swedish PKU organization
	The journey as a parent to a child with PKU
10.30-11.00	Georg Hoffman, Professor of paediatrics, Heidelberg University Hospital
	Newborn Screening, Genomics and IT Revolution – Changing the History of Rare Diseases
11.00-11.20	Rolf Zetterström, Head of the Swedish dried blood spot newborn screening laboratory, senior consultant, Karolinska University Hospital
	60 years of Dried Blood Spot newborn screening in Sweden
11.20-11.40	Patricia Hall, Consultant, Mayo Clinic
	Utilization of CLIR for Continuous Quality Improvement in Newborn Screening
11.40-11.55	Lene Sörensen, Director of medical unit Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital
	The Swedish dried blood spot biobank is turning fifty years, uses and possibilities
12.00-13.30	Lunch
13.30-13.50	Peter Schielen, Office manager International Society for Newborn Screening (ISNS)
	On the history, organization and work of ISNS
13.50-14.10	Jim Bonham, President International Society for Newborn Screening (ISNS)
	Opportunities and challenges of newborn screening from an ISNS perspective
14.10-14.30	Anna Nordenström, Professor of paediatric endocrinology and inborn errors of metabolism, Karolinska University Hospital
	How to avoid harm and do good after referral for an abnormal dried blood spot newborn screening test
14.30-14.50	Margareta Hedner, Policy analyst, public health at the Social Board of Health and Welfare
	National recommendations of newborn blood spot screening: The Swedish model for evaluation of new screening programs
14.50-15.10	Christian Munthe, Professor of practical philosophy, University of Gothenburg
	The screening threshold – institutional challenges and ethical issues of justice in dried blood spot newborn screening
15.10-15.40	Break and coffee
15.40-16.10	David Bick, Principal Clinician for the Newborn Genomes Programme att Genomics England
	Screening 100,000 Newborns Using Whole Genome Sequencing: The Genomics England Generation Study
16.10-16.30	Anna Wedell, Professor of medical genetics. Senior consultant at the Centre for Medical Metabolic Diseases (CMMS) and director of Precision Medicine Center Karolinska (PMCK), Karolinska University Hospital
	Newborn screening paving the way for precision medicine
16.30-17.00	General discussion and closing remarks
19.00-	Conference dinner (Fenix Gastropol)

October 14

08:30-09:00	Registration and coffee
09:00	Start of the program
16:00	End of the program

Workshop on future technologies and development of DBS screening programs

Venue: Nanna Svartz lecture hall, Karolinska University Hospital

08:30-09:00	Registration and Coffee with “Fika”
09:00-09:15	Introduction of participants and practical info Rolf Zetterström
09:15-10:15	New target diseases and the need of genetic analysis
09:15	Hypercholesterolemia screening Žiga Iztok Remec
09:30	Brief talk on CMV screening Marie Bækvad-Hansen
09:45	Newborn screening for sickle cell anemia using qPCR Janne Maren Strand
10:00	Newborn screening for metachromatic leukodystrophy in Norway Speaker from Norway
10:15-10:45	How to implement genetic analysis in the NBS program
10:00	Implementation of Sanger sequencing as 2ndtier for CUD, validation and feasibility study Veroniqa Lundbäck
10:15	Benchmarking pooled WGS with current screening approaches Jonas Bybjerg-Grauholm
10:30	Screening for SCID, SMA and SCD using a triplex qPCR assay Friederike Hörster
10:45-11:00	Short break
11:00-12:00	Data management
11:00	Data analysis in the lab, joint presentation Sam Dysting Swe and Jonas Bybjerg-Grauholm DK
11:30	Walk through of Post-Analytical Tools for Newborn Screening Interpretation Patricia Hall
11:45	Evaluation of WGS data, SCOUT tool Nicole Lesko
12:00-13:00	Lunch
13:00-13:30	Case reports/Diagnostics of NBS cases
13:00	Case report, from NBS to Diagnosis Mikael Oscarson
13:15	Inconclusive results/VUS Asbjørg Stray-Pedersen
13:30-14:30	New approaches/methods in NBS
13:30	Nanopore in newborn screening* William Tourniaire
13:45	CAH: CYP21A2 longread sequencing, first experiences Marie Bækvad-Hansen
14:00	Advancing newborn screening through enzyme microarrays Raquel Yahyaoui
14:15	Too Early to Tell? The cost of diagnostic accuracy for detecting propionic acidemia Nils Meijer
14:30-15:00	Coffee with "Fika"
15:00	Gotta catch ‘em all: Genomics in newborn screening Alexander Rowe and Cassandra Trier
15:30	Summary of the Day and concluding remarks Furture perspectives
15:50	Near future plans for NBS laboratories, next meeting – open discussion