Newborn Screening

Pilot Studies: A

Fragmented System

Michael S. Watson

Uniform Screening Panel (2015)o 31 primary conditions

o 20 detected by MS/MS (AA, FAO, OA)

o 3 Hemoglobinopathies (S/S, S/βThal, S/C)

o 9 others (BIOT, CAH, CF, CH, GALT, HEAR, SCID, CCHD)

o 26 secondary targets

o 22 detected by MS/MS (AA, FAO, OA)

o 1 Hemoglobinopathy (many variants counted as 1)

o 3 others (GAL-epimerase, GAL-kinase, other T-cell def.)

Critical congenitalheart defect

**

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UniformPanel

• Fragile X

• Friedreich’s ataxia

• LSD

• Proximal UCDs

• SLO

• SMA

• Toxoplasmosis

• Wilson disease

• ALD (X-linked)

• CDG Ib

• CMV

• Creatine defects

• DMD

• G6PD

• HIV

• Fam. Hypercholesterol.

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Partial List of Candidate Conditions for Expansion of Newborn Screening

UniformPanel

• Fragile X

• Friedreich’s ataxia

• LSD

• Proximal UCDs

• SLO

• SMA

• Toxoplasmosis

• Wilson disease

• ALD (X-linked)

• CDG Ib

• CMV

• Creatine defects

• DMD

• G6PD

• HIV

• Fam. Hypercholesterol.

Partial List of Candidate Conditions

for Expansion of Newborn Screening

87Fabry disease (X-linked)

Gaucher disease

Krabbe disease

Pseudo MLD

MPS I

MPS II

MPS IIIA

MPS VI

Mucolipidosis type II/III

Multiple sulphatase deficiency

Niemann–Pick disease type A/B

Pompe disease

UniformPanel

• Fragile X

• Friedreich’s ataxia

• LSD

• Proximal UCDs

• SLO

• SMA

• Toxoplasmosis

• Wilson disease

• ALD (X-linked)

• CDG Ib

• CMV + 4 AD Genes

• Creatine defects

• DMD

• G6PD

• HIV

• Fam.

Hypercholesterol.

Partial List of Candidate Conditions for

Expansion of Newborn Screening

• CRT (X-linked)

• CRT carriers

• GAMT

• AGAT

• ALD carriers

• Zellweger sdr

• Other DPBs

100+

Pre-pre-Newborn Screening Phase

o Research into disease etiologies and clinical

histories

o Clinical intervention and therapeutics

development

o New technology development

o Largely funded by HHS agencies and industry

Pre-Newborn Screening Phase

o Applications of new technologies and

treatments in clinically ascertained

populations

o Defining diseases

o Developing diagnostic capabilities

o Refining treatment strategies

o Expanding uses to subpopulations

Initial Newborn Screening Phase

o Population level pilots to capture screening

performance in a broadly representative and

often very large number of people to capture

sufficient rare disease patients to inform

decisions

o Multistate pilots

o Funding from NICHD and CDC

Expanded State Implementation

o Expanding to more states offers opportunity

for improved understanding (QI) of a rare

disease

o HRSA, CDC, and NICHD funded programs

o APHL funded to coordinate

Gaps in Current Approach

o Disease and biomarker incidence

o Dictates initial funding levels for pilots

Thank you!