© 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

September

NEWBORN SCREENING AWARENESS MONTH

http://www.newbornscreening.perkinelmer.com/for_pa

rents/what_is_newborn_screening

US$2.3 BILLION

150 COUNTRIES

8000 EMPLOYEES

TURKU SITE

ONE OF THE LARGEST

MANUFACTURING AND R&D

FACILITIES IN PERKINELMER Centre of Excellence for Diagnostics Devices

PerkinElmer (PKI) #1 Newborn Screening Company

37M PKI Screened

Annually

24K PKI Saved

Annually

65 PKI Saved

Every Day

PerkinElmer (PKI) #1 Newborn Screening Company

cumulatively screened

522M Babies

Newborn Screening?

Prevent

HOW PERKINELMER

BECAME THE

WORLD

LEADER IN NEWBORN

SCREENING ?

PKI 59%

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

HI

CT

OK

MA NY

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

CO CA

N

V

TX

MI

NJ

DE

MD

ND

SD

M

N

KS

MS

RI

VT

ME

WV

MENU EXPANSION

HI

CT

OK

MA NY

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

CO CA

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

Assumed

Prevalence1

HI

CT

OK

MA NY

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

CO CA

N

V

TX

MI

NJ

DE

MD

ND

SD

M

N

KS

MS

RI

VT

ME

WV

GEO EXPANSION

80-100%

60-79%

40-59%

20-40% <20%

0

50

100

150

200

250

300

350

400

450

500

550

600

650

19

85

19

86

19

87

19

88

19

89

19

90

19

91

19

92

19

93

19

94

19

95

19

96

19

97

19

98

19

99

20

00

20

01

20

02

20

03

20

04

20

05

20

06

20

07

20

08

Nu

mb

er(

ten

th

ou

sa

nd

)

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

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

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%

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

NGS PARADIGM

SHIFT ??

ethical, legal and …

…social issues?

IS there a space for…

… NGS in NBS?

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

G I V I N G M O R E B A B I E S A B E T T E R S TA R T I N L I F E