New Jersey’s Path to Sequencing

Scott M. Shone, PhD

Program Manager – NBS Laboratory

Gene Sequencing in Public Health Newborn Screening Meeting

February 17, 2017

Baby, We Were Born to Run

NJ Newborn Screening Program

Single screen collected at 24 to 48 hrs of age

~99,500 births

~118,000 specimens

55 disorders

SCID – 6/30/2014

$90 / initial specimen

2008

Fee increase pending to $150

ΔF508

Hazardous

Acrylamide

Silver stain

Cheap

Did the job

No impetus (or reason) for change

No resources for change

2009 – 2012

May 2009

Official MS/MS expansion

May 2010

SCID added to RUSP

April 2011

NJNSARC recommends

SCID to NJDOH

Jan 2012

Governor signs Emma’s Law

Sept 2012

Meeting with Commissioner

Meeting Objectives

Provide a report on outsourcing screening for SCID and 5 LSDs

Make a recommendation for the implementation of SCID and

LSD screening for NJ’s newborns

Update the next steps in the process for implementation of

screening for SCID and LSDs

SEPTEMBER 2012

2009 – 2012

May 2009

Official MS/MS

expansion

May 2010

SCID added to RUSP

April 2011

NJNSARC recommends

SCID to NJDOH

Jan 2012

Governor signs Emma’s

Law

Sept 2012

Meeting with Commissioner

Nov 2012

NYMAC Pompe

Workshop

End 2012 – Project Plan Approved

Happy Holidays!

Approval to hire one Lab staff &

one FU staff

Internal to DOH

Chemist

PHR

Minimal Infrastructure

No molecular flow

One room

No instruments

Conventional PCR

Gel electrophoresis

No fee increase

2013

January

Convene Immunologists

February to July

Lab & FU pursue project plan and hiring

August

Governor signs ALD Law

September

Pulmonologists recommend

lowering IRT cutoff

Summer -Winter

Work with CDC NSMBB on

SCID

Goals for Molecular in

NBS

Review flow

SOPs

QA/QC

Core vs. NBS

Staffing

Thank you Suzanne, Chris,

Rachel, & Mei!

2014

Current Status

SCID

Go-live June 30, 2014

ΔF508

Conventional PCR to real-time PCR

Let them be Little Act

Signed September

MPS-I

MPS-II

The Future (in 2014)

What?

Sequencing for 2 LSDs (Krabbe &

Pompe)

GALT Mutation analysis

Build foundation for growth

Why?

Why?

Benefits the entire system

Laboratory Assay

Follow-up workload

Specialist triage

Patient care

Support multiple assays

Krabbe

Pompe

MPS-I

GALT

HGB

CF

Costs made sense

Start-up large

On-going moderate

Lower for NBS than Specialists

We could provide what specialists

wanted

Specialists accepted our limitations

Pride

The Future (in 2014)

What?

Sequencing for 2 LSDs (Krabbe &

Pompe)

GALT Mutation analysis

Build foundation for growth

Why?

When?

Starting building the foundation in

2015

Where?

In Jersey, of course!

Who?

Needed staff with molecular

experience

CDC/APHL Fellow

Research Scientist

How?

With help from our friends

2015 – 2017

March 2015

APHL Fellow

Dr. Miriam Schachter

July 2015

Research Scientist

Dr. Alyssa MacMillan

July ‘15 to July’16

Build infrastructure

Argue for fee increase

March 2016

Visit Wadsworth

Ongoing support

Ongoing

Work with CDC NSMBB

Galactosemia, GALK,

GALE

• GALT

• TGAL

Biotinidase Deficiency

• BIO

Cystic Fibrosis

• IRT

Congenital Adrenal Hyperplasia

• 17OHP

Congenital Hypothyroidism

• T4

• TSH

Amino Acid Disorders

Fatty Acid Disorders

Organic Acid Disorders

Hemoglobinopathies

Severe Combined Immunodeficiency

Molecular 2nd Tier Tests

• Cystic Fibrosis

• Galactosemia

• LSD Sequencing

Lysosomal Storage Disorders

• Krabbe

• Pompe

• Fabry

• Gaucher

• Neimann Pick

• MPS1

Wisdom from The Lorax

Thank you

Dr. Alyssa MacMillan

Dr. Miriam Schachter

NJ NBS Team

Dr. Carla Cuthbert

Dr. Suzanne Cordovado

Dr. Christopher Greene

Dr. Mimi Nikolova

Laura Hancock

Dr. Michele Caggana

Dr. Carlos A. Saavedra-Matiz

Dr. Colleen Stevens

Matt Nichols