Expanded newborn screening
update
Prof Jim Bonham
Clinical Director
Sheffield Children’s NHS FT
Screening Results 1st & 2nd Quarter
Number of Births
Site
1st Quarter Births
2nd Quarter Births
Total Births
Birmingham
19,485
18,484
37,969
Great Ormond Street
33,970
32,061
66,031
Guy's & St Thomas'
16,599
14,617
31,216
Leeds
12,075
12,505
24,580
Manchester
15,540
14,141
29,681
Sheffield
19,178
19,446
38,624
Total Births
116,847
111,254
228,101
Estimated Births for 8 months = 304,134
Number of Expanded Screening Declines
Site
16/07
17/08
18/08
17/09
18/09
17/10
18/10
17/11
18/11
17/12
18/12
17/01
18/01
17/02
18/02
17/03
Site
Totals
Birmingham
12
10
1
2
3
4
0
1
33
Great Ormond Street
14
13
9
4
6
2
5
1
54
Guy's & St Thomas'
3
0
1
2
0
1
0
1
8
Leeds
1
1
1
2
0
0
0
0
5
Manchester
12
1
5
4
5
4
3
2
36
Sheffield
22
7
9
5
4
3
4
3
57
Total Declines
64
32
26
19
18
14
12
8
193
Number of expanded screening declines across the six sites: 193 (0.06%)
What were our expectations?
Prevalence
Screen
positives
True
positives
False
positives
PPV%
MSUD
1:116,000
8
4
4
50
HCys
1:144,000
8
3
5
38
GA1
1:109,191
10
4
6
40
IVA
1:155,396
10
3
7
30
LCHAD
1:218,564
5
2
3
40
TOTAL
1:28,000
41
16
25
39
Condition
What have we found so far? (Jason Sowter)
Expected by
this time
MSUD
Hycs
IVA
GA1
LCHADD
TOTAL
False positives
1
0
2
0
0
3
True positives
1
0
1
0
0
2
Sibling identified case
0
0
1
0
0
1
False positives
0
0
1
0
0
1
True positives
0
0
0
2
0
2
Sibling identified case
0
0
0
0
0
0
False positives
0
0
2
0
0
2
True positives
0
0
0
1
0
1
Sibling identified case
0
0
0
0
0
0
False positives
0
0
1
0
0
1
True positives
0
1
0
0
0
1
Sibling identified case
0
0
0
0
0
0
False positives
0
0
0
0
0
0
True positives
0
0
0
0
0
0
Sibling identified case
0
0
1
0
0
1
False positives
0
0
2
0
0
2
True positives
0
0
2
0
0
2
Sibling Identified case
0
0
0
0
1
1
MSUD
Hycs
IVA
GA1
LCHADD
Total
Expected
False positives
1
0
8
0
0
9
17.7
True positives
1
1
3
3
0
8
11.3
47
39
Birmingham
GOSH
Guy’s & St Thomas’
Leeds
Manchester
Sheffield
Total
PPV%
Website Usage (Clare Gibson)
•
The number of unique visitors per month has remained steady for the five
months a rise was seen in February.
• There is a little fluctuation on the number of true visitors (defined as
remaining at the website for more than 30 seconds)
• The majority of visitors spend less than 30 seconds at the site
Graph depicting number of visitors to expandedscreening.org
Number of visitors
Number of unique visitors
Number of 'true' visitors (visit of 30sec
duration or greater)
Ju
ne
1s
t
21
st
M
ay
-3
1s
tM
ay
-3
1s
20
0t
tJ
1s
h
1s
ul
tA
Ju 1 2
tS
y
ug
ne
-3
ep
us
1s
20
te
tm
tJ
12
be
31
ul
y
r
s
1s
-3
tA
20
tO
12
0t
ug
1s
h
ct
us
Se
tN
ob
t
2
pt
e
ov
em 01
em r - 3
1s
2
b
1
tD
be
er
st
ec
rO
20
ct
em
30
12
ob
th
be
e
N
r
r1s
2
ov
31
tJ
em 0 12
st
an
be
1s
De
ua
r2
tF
ry
ce
01
eb
-3
m
2
ru
b
1s
er
ar
tJ
20
y
an
-2
12
ua
8t
h
ry
Fe
20
br
13
ua
ry
20
13
Number of visitors
1000
900
800
700
600
500
400
300
200
100
0
Month
Website Usage – Accessing translations
• Translated versions of the Parent & Health Professional leaflet have been
accessed a total of 166 times in 8 different languages.
• Polish is the most commonly downloaded translation, followed by Turkish.
10
6
8
Polish
11
Turkish
70
Spanish
Arabic
11
French
Portuguese
7
Somail
Hindi
43
• Urdu is the only audio translation to be accessed (a total of 9 times)
Website Updates – The revised website
Website Updates
The new website includes:
• Simplified information about each of the 5 conditions
• Access of all information for all (i.e. removal of the password restricted area)
• A suite of short films (produced in partnership with Optical Jukebox)
describing the role of newborn screening and each of the five conditions
• Simplified access to important information – such as leaflet ordering and
leaflet translations
• Front page links to other key websites (BIMDG and NSPC)
• An improved navigation structure including a search facility and bread
crumbs
• The new website and the films were released at the Rare
Diseases Day Parliamentary Reception at Houses of Parliament
on 27th February 2013.
Website Usage - Queries
• 26 queries from NHS staff, 7 from members of public.
• Initial response times within 3 day time bracket.
• Most common query – ordering leaflets
• Midwives, health visitors & screening co-ordinators most common profession.
Query Type
Number of Days taken to Respond to Website Query (May 2012 - March 2013)
3%
3%3%
3%
3%
25
20
Leaflets
Access to restricted areas
31%
Translations
Website error
General information
12%
15
CHRD
Study areas
10
3%
3%
Diagnostic pathway
Junk mail
5
Blood spot response time
9%
0
18%
9%
0 Days
1 Day
2 Days
3 Days
How to participate
CF screening
Issues to explore?
Improving the assays
Mild disease, particularly the IVA’s
Evaluating the impact of false positive
results
Bridging work
Improving the assays
EQA, Final Mackenzie
Population data, Rodney Pollitt and
Rachel Carling
Circulation of samples with Int Std kit to
identify analyser related variables,
Rachel Carling
Mild disease, particularly the IVA’s
 The issue
 Two mild IVA’s in the first month
 One of these includes the mild mutation
 The other the child is well, consanguineous kindred, C5
at screening was 1.11 µmol/L (cut-off 1.00 µmol/L)
 Urinary IVG modest
 54.6 µmol/mmol cr
 Infant control range : 0.06 – 1.20 (n=12)
 Mild mutation : 23 – 79 (n=2)
 Symptomatic patients : 685 - 4,541 (n=9)
 Treated conservatively on emergency regimen, older
siblings being tested
Further study
 Do we need to look carefully at “mild case/ mutation
experience” in similar populations eg
UK/Netherlands/Germany and determine if we can
stratify risk on a biochemical basis – metabolite or
enzyme assay?
Evaluating the impact of false positives
The problems



Parents tell us that false positives are not a huge problem
in theory - Dixon S JIMD 2012
In practice the evidence is somewhat contradictory
 Tu WJ PLoS One 2012
39% of mothers with a false +ve result describe
concerns about child’s future development vs 10% in
the normal screened group
 Waisbren SE et al JAMA 2003
Children with FP result twice as likely to experience
hospitalisation 21% vs 10% and mothers report
increased PSI score p<0.001
Vs
 Lipstein EA Genet Med 2009
200 children with FP and 137 normal showed no
difference in healthcare utilisation
 Prosser LA Arch Pediatr Adol Med 2008
91 parents with FP result vs 50 with a normal.
Demonstrated a high tolerance in a WTP study
Why is this and what do the parents want?
 Many studies tell us that better communication reduces
stress
 Generally studies do not compare how the family was
given the news or supported in the time to confirmation
Evaluating the impact of false positives
A planned study, Dr Louise Moody
 A detailed literature search
 Identification of key issues that may
confound studies
 Determine the views of parents who
have received a false positive screening
result
 Determine the views of parents who
have received a true positive screening
result
 Determine the views of metabolic
physicians, metabolic nurses and
dietitians have delivered a result
 Make reccomendations for best practice
To begin in July 2013, complete in
2014
Bridging work
Resources for patients





Videos
Podcast use
Written material
Website
Help line
Resources for professionals




The diagnostic process and organisation of testing
Telemedicine support
Case definitions
Treatment protocols for a spectrum of disease
For the future
Continuing the study after July 2013
Completing the CRF data collection and
health economic evaluation (Prof Jim
Chilcott, ScHARR)
Presentation to the UKNSC
Considering further conditions to be
included and creating a northern European
consensus – Literature search and meeting
Continuing to develop the website CLAHRC2
CAH – RFPB application
Descargar

Newborn screening bloodspot applications – current and