Expanded Newborn Screening: ACMG/HRSA Report · 2016-05-17 · Expanded Newborn Screening:...
Transcript of Expanded Newborn Screening: ACMG/HRSA Report · 2016-05-17 · Expanded Newborn Screening:...
Expanded Newborn Screening:ACMG/HRSA Report
APHL Annual MeetingJune 27, 2005
Bill Becker, DO, MPHMedical Director
Ohio Dept of Health Laboratory
Newborn Screening: Towards a Uniform Panel and System
Contract No. 240-01-0038
ContractorAmerican College of Medical Genetics
SPONSORMaternal and Child Health Bureau
Genetic Services BranchHealth Resources and Service Administration
0
2
4
6
8
10
12
1 3 5 7 9 11 13 15 17 19 21 23 25 27 29 31 33 35 37 39 41 43
20042004
No.
of S
tate
s
No. of conditions
<55-10
11-20>20
% USBirths20%42%12%27%
From NNSGRC(updated 9/8/04)
0
2
4
6
8
10
12
1 3 5 7 9 11 13 15 17 19 21 23 25 27 29 31 33 35 37 39 41 43
20022002N
o. o
f Sta
tes
No. of MANDATED conditionsNo. of MANDATED conditions
No. of conditions
<55-10
11-20>20
% USBirths30%66%0%5%
5-10(20%)
<5(20%)
5-10(66%)
<5(30%)
3 Disorders (1)
More than 8 Disorders (32) [More than 30 Disorders (14)]
7 Disorders (4)6 Disorders (4)5 Disorders (2)4 Disorders (6)
8 Disorders (2)U.S. Newborn Screening
Mandated Disorders – Jan 2005 (Note: Other disorders may be offered but are
not mandated)
>30
>30 26>30
>30
9>30
>30
>30
>30>30
26
40
14
29
9
9
>30
29
19
9
10
21
>30
13 10
>30>30
27
DC
>30
>30>30
NBS in the United States TODAY is–Not UNIVERSAL
• Only PKU, CH, and GAL (related conditions)
–Not FAIR or UNIFORM• Limited pilot programs• Left to consumer initiative
State of Newborn ScreeningTODAY
• Lack of uniformity is pervasive and affects:
– Decision-making (no national process)
– Analytical quality
– Interpretation of results
– Outcome data collection
General Goals of HRSA/ACMG Contract
• Develop uniform panel of conditions– a decision-making tool for program expansion or
contraction• Develop minimum standards, policies &
procedures for NBS programs• ID appropriate health outcomes to be
incorporated into evaluation protocols• Consider value of a national process for QA and
oversight of NBS
Process (1)
• Steering Committee formed:– Major organizations with interest and
involvement• AAP, CDC, MOD• Genetic Alliance• NIH, HRSA
• Expert Group formed:– Broadly representative of interest groups but
focused on scientific expertise
Process (2) – Input From:
• 24 experts in NBS & public policy
• 75 recognized experts (US & International)
• (3) Public comment opportunities
• Input requested from many interest groups (APHL, SIMD, ASTHO, consumers, others)
• Literature review
Assessing the Evidence: Issues
Incidence/Prevalence Data
• General population data is best
• Mostly rare diseases
• Multiple genetic etiologies
• Splitting conditions in multiple groups
The Evidence Base
• Systematic review of sources– Clinical evidence– Cost/economic evidence and modeling– E-references (Medline, PubMed)– Reference Texts– Health technology assessment (HTA)– Professional guidelines
• Review of Epidemiologic studies– Study design– Subjects, outcome– Effectiveness of treatment
Criteria and Scoring SystemCriteria and Scoring System• Incidence of conditions• Identifiable at birth• Burden of disease• Availability of test• Test characteristics• Availability of treatment• Cost of treatment• Efficacy of treatment• Early intervention• Early identification• Mortality prevention• Diagnostic confirmation• Acute management• Simplicity of therapy
No ResponsesNo Responses
8455
4032
39
International 22Not provided 2
8959
4235
43
International 22Not provided 2
292 Survey Responses
1,106
International 353Not provided 2
323 326
776 1,0351,110
International 353Not provided 2
3,939 Disease Profiles
326 328
780 1,040120
International 60Not provided 2
585 Respondent Profiles
178
53 68
79125
International 60Not provided 2
184
58 71
85
Sorting of Survey Scores
Amino acids
OA FAO AA
IVA MCAD PKU SCA HYPOTHGA-I VLCAD MSUD Hb S/ Th BIOTHMG LCHAD HCY Hb S/C CAHMCD TFP TYR I G6PD * GALTMUT CUD ASA HEAR
Cbl A,B CIT CF3MCCPROPBKT
MS/MSAcylcarnitines
UNIFORM PANEL
Hematology Others(9)(9) (5)(5) (6)(6) (4)(4) (6)(6)
Amino acids
Cbl C,D M/SCHAD Hyper-PHE Variant Hb GALE2M3HBA SCAD TYR-II GALK
IBG MCKAT BIOPT (BS)2MBG GA-II TYR-III3MGA CPT-IA ARGMAL CPT-II BIOPT (REG)
CACT METDE REDUCT CIT-II
OthersOA FAO AA
MS/MSAcylcarnitines
Hb Pathies
Secondary Markers
CONDITION
>1,200 <1,0001,000-1,200
NoNBS
Is therea TEST
available?
Is natural history
well understood?
REPORTONLY
No
No
SURVEYSCORE
Yes
Yes
Are all detected patients
affected?
CORE PANEL
FULL NBS PROGRAM
Yes
Yes
Is Condition part of a differential diagnosis for a core condition?
Yes
Is treatment available and/or necessary?
No
To be reconsidered based on:1) New screening methods2) New treatments3) Knowledge of natural history
Survey consensus:Mean score >100Median score =200
Survey consensus:Mean score <100Median score <200
No Is Condition still detected as part
of a multiplex profile?
Yes
No
NOSome patients
are carriers
Evaluation Flow Chart
Other HRSA Activities
• Confirmatory algorithms
• Action “Act” sheets for patient management/referral
• Regional collaboratives
• Ongoing evidence review
OK – So What Happened to the ACMG/HRSA Report?
• 2004 HHS Secretary Thompson appointed an Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children
• SAC has reviewed the report and recommended it to the Secretary HHS
Status of the ACMG/HRSA Report
• Open comment period – closed May 8th
– Encouraged input from all• Next – all comments will be reviewed by
the SAC for further recommendations• Internally – all interested agencies within
HHS will review & comment
SAC Purpose
• Title XXVI of the Children’s Health Act of 2000 Screening for Heritable Disorders
• Establishes a program to improve the ability of States to provide newborn & child screening for heritable disorders
• A possible mechanism for federal funding?
SAC Activities
• Has established subcommittees– Laboratory standardization– Education & training– Follow up
• Cross cutting issues – financing, information technology, new testing technologies & review of the core panel for additions/deletions
Decision to Expand
• Widespread interest– clinical experts– public groups– private groups– political groups
Public Health
Centralized Program was felt to be the most important Goal
• Newborn screening is more than just testing
• Must be an integrated system
• Linking the babies, parents, hospitals & physicians with the health department and regional centers
Providers
Genetic & Sickle Cell Centers
Program
The End !