1. © 2014 PerkinElmer
HUMAN HEALTH • ENVIRONMENTAL HEALTH
How PerkinElmer became the world leader
in newborn screening
Draft - Confidential
HealthBIO2016, BioCity Mauno, Sep 2016
Marika Kase, Global Business Director, Newborn Screening

2. September
NEWBORN SCREENING
AWARENESS MONTH

4. http://www.newbornscreening.perkinelmer.com/for_pa
rents/what_is_newborn_screening

5. US$2.3
BILLION
150
COUNTRIES
8000
EMPLOYEES

6. TURKU SITE
ONE OF THE LARGEST
MANUFACTURING AND R&D
FACILITIES IN PERKINELMER
Centre of Excellence for Diagnostics Devices

7. PerkinElmer (PKI) #1 Newborn Screening Company
37M
PKI Screened
Annually
24K
PKI Saved
Annually
65
PKI Saved
Every Day

8. PerkinElmer (PKI) #1 Newborn Screening Company
cumulatively screened
522M Babies

9. Newborn Screening?

10. Prevent

11. HOW
PERKINELMER
BECAME THE
WORLD
LEADER
IN NEWBORN
SCREENING ?
PKI
59%

12. DATA
PROCESSING
& REPORTING
SAMPLE
COLLECTION
SAMPLE
PREPARATION
SAMPLE PROCESSING
& MEASURING
PLATFORM
CONSOLIDATION
SOLUTIONS FOR
SMALL TO XXL
LABORATIORIES
FULL
RANGE OF
ANALYTES
PerkinElmer Complete Solution
CONSULTATION
LUCK
NICHE
LONG TERM INVESTMENTS
PARTNERSHIP
CUSTOMER NEEDS

13. HI
CT
OK
MANY
IL
LA
KY
OH
IN
WI
MI
VA
NC
SC
TN
AL GA
AR
NE
IA
MO
PA
NH
FL
AK
ID
OR
AZ
NM
UT
MT
WA
WY
COCA
N
V
TX
MI
NJ
DE
MD
ND
SD
M
N
KS
MS
RI
VT
ME
WV
MENU
EXPANSION

14. HI
CT
OK
MANY
IL
LA
KY
OH
IN
WI
MI
VA
NC
SC
TN
AL GA
AR
NE
IA
MO
PA
NH
FL
AK
ID
OR
AZ
NM
UT
MT
WA
WY
COCA
N
V
TX
MI
NJ
DE
MD
ND
SD
M
N
KS
MS
RI
VT
ME
WV
NORTH AMERICA
US State screening panel
driven by HRSA
recommendated panel
- 34 primary and 26
secondary conditions
Lates additions to RUSP:
SCID, congenital heart
disease, LSD Pompe &
MPS1, X-ALD

15. Assumed
Prevalence1

16. HI
CT
OK
MANY
IL
LA
KY
OH
IN
WI
MI
VA
NC
SC
TN
AL GA
AR
NE
IA
MO
PA
NH
FL
AK
ID
OR
AZ
NM
UT
MT
WA
WY
COCA
N
V
TX
MI
NJ
DE
MD
ND
SD
M
N
KS
MS
RI
VT
ME
WV
GEO
EXPANSION

17. 80-100%
60-79%
40-59%
20-40%
<20%
0
50
100
150
200
250
300
350
400
450
500
550
600
650
1985
1986
1987
1988
1989
1990
1991
1992
1993
1994
1995
1996
1997
1998
1999
2000
2001
2002
2003
2004
2005
2006
2007
2008
Number(tenthousand)
Year 1985-2008
Phase I
6M Babies
(2008)
15M babies
(2016)
Phase II
NEWBORN SCREENING
IN CHINA
>90% of babies are screened for at least 2 disorders
Panel is expanding from 2 disorder to 30+
PerkinElmer holds a strong Market Leader Position

18. CHINA
In March 5 2015, PerkinElmer Entered to
exclusive three-year agreement with
China’s National Health and Family
Planning Commission (NHFPC)
 Training and educational
programs - > increase NBS
coverage
 Introduce new technologies &
provide clinical training - >
drive panel expansion

19. EGYPT
2.7 million babies screened annually for
CH from 2012 onward with PerkinElmer
systems
The NBS laboratory in Cairo is the
largest in the world!
18 GSP instruments
Staff savings by consolidation of labs
and automation
Panel Expansion to PKU
implemented 2015
By method improvement to automated
GSP TSH (TRF) the false positive rate
has dropped from 10% to less than
0.3%

20. Government
Mandate
Public Funding,
Insurance Coverage
Public Awareness &
Education
Research Pilot Studies
National Program
Newborn Screening Program Development Path
Years: 1 2 3 4 5 6 7 8 9 10 11 12 13

21. NGS
PARADIGM
SHIFT ??

23. ethical, legal and …
…social issues?

24. IS there a space for…
… NGS in NBS?

25. NGS to stop
diagnostic
odyssey
NBS
10-50 diseases
screened
Other Inherited
Diseases
~7k total
~3k monogenetic
Primary
Screen
2dn Tier Diagnosis
Biochemical
PCR
Repeat
Next
Generation
Sequencing
Other tests
Clinical
findings
Presents in Children’s
Hospitals
Biochemical tests +
Next Generation
Sequencing
Treatment
Diet
Therapy
Management

26. GIVIN G MOR E B A B IES A B ETTER STA R T IN LIFE