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Newborn Screening Progress in Developing Countries-Overcoming Internal

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Article  in  Seminars in Perinatology · April 2010

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Newborn Screening Progress in
Developing Countries—Overcoming Internal Barriers
Carmencita D. Padilla, MD, MAHPS,*,† Danuta Krotoski, PhD,‡ and
Bradford L. Therrell Jr, MS, PhD§,¶

Newborn screening is an important public health measure aimed at early identification and
management of affected newborns thereby lowering infant morbidity and mortality. It is a
comprehensive system of education, screening, follow-up, diagnosis, treatment/manage-
ment, and evaluation that must be institutionalized and sustained within public health
systems often challenged by economic, political, and cultural considerations. As a result,
developing countries face unique challenges in implementing and expanding newborn
screening that can be grouped into the following categories: (1) planning, (2) leadership, (3)
medical support, (4) technical support, (5) logistical support, (6) education, (7) protocol and
policy development, (8) administration, (9) evaluation, and (10) sustainability. We review
some of the experiences in overcoming implementation challenges in developing newborn
screening programs, and discuss recent efforts to encourage increased newborn screening
through support networking and information exchange activities in 2 regions—the Asia
Pacific and the Middle East/North Africa.
Semin Perinatol 34:145-155 © 2010 Elsevier Inc. All rights reserved.

KEYWORDS newborn screening, Asia Pacific, Middle East and North Africa, newborn blood-
spot screening

N ewborn bloodspot screening (NBS), using biochemical

markers to detect certain congenital conditions, is a
public health measure aimed at the early identification and
management of affected newborns in an effort to reduce in-
fant morbidity and mortality. It is a comprehensive system of
education, screening, follow-up, diagnosis, treatment/man-
agement, and evaluation that must be institutionalized and
sustained within public health systems often challenged by
economic, political, and cultural considerations.1 Initiation
of NBS in developing countries, such as many in the Asia
Pacific (AP) and the Middle East and North African (MENA)
*Department of Pediatrics, College of Medicine, University of the Philip-
pines—Manila, Manila, Philippines.
†Newborn Screening Reference Center, National Institutes of Health (Phil-
ippines), Ermita, Manila, Philippines.
‡Eunice Kennedy Shriver National Institute of Child Health and Human
Development, National Institutes of Health, Bethesda, MD.
§National newborn Screening and Genetics Resource Center, Austin, TX.
¶Department of Pediatrics, University of Texas Health Center at San Anto-
nio, San Antonio, TX.
Supported in part by HRSA grant U32MC00148.
Address reprint requests to Carmencita D. Padilla, MD, MAHPS, Depart-
ment of Pediatrics, College of Medicine, University of the Philippines,
Pedro Gil Street, Ermita, Manila 1000, Philippines. E-mail: carmencita.
padilla@gmail.com
regions has been slow because of a variety of factors. While all
countries face challenges in implementing NBS, developing
countries face additional challenges related to poor econo-
mies, unstable governments, unique cultures, geographic ex-
tremes, and different public health priorities.2-5
The countries in the AP and MENA vary widely in size
from very small countries (New Zealand, Singapore, Bahrain,
Lebanon, Oman, Qatar, United Arab Emirates) to extremely
large countries (China, Mongolia, Algeria, Egypt, Iran, Libya,
Saudi Arabia). Some countries are economically developed
(Australia, Japan, Korea, New Zealand, Singapore, Taiwan,
Israel, Kuwait, Qatar, United Arab Emirates) while others are
economically developing (the rest of the AP and MENA Re-
gion). Home deliveries continue to be a major challenge in
Bangladesh (80%), India (61%), Philippines (62%), Pakistan
(80%), Laos (85.7%), Iran (34.4%), Occupied Palestine Ter-
ritory (38.8%), and Yemen (50%).4,6 The varied written lan-
guages pose unique challenges, particularly in regions where
the character sets (ie, Chinese, Arabic, Thai) are not readily
understood by outsiders. As a result, experts from developed
programs cannot easily communicate their experiences and
share materials with some in developing programs. Despite
these challenges, NBS is a growing priority in many of the
more progressive developing countries.2,3

0146-0005/10/$-see front matter © 2010 Elsevier Inc. All rights reserved. 145
doi:10.1053/j.semperi.2009.12.007
146
Successful NBS historically has developed from the efforts
of an interested individual or group of individuals concerned
with improving the life of newborns and their families. Some-
times, these efforts have taken years to develop. While some
NBS programs have been initiated as government services,
these generally have been confined to small countries or city-
states (eg, Hong Kong, Singapore). For sustainability, NBS
eventually must intersect with government public health ac-
tivities. This evolution often has required a delicate balance of
economics, politics, government health priorities, personnel,
and other resources. Success in developing and institution-
alizing NBS typically has resulted from the continued efforts
of dedicated leaders willing to gain proficiency in NBS med-
ical and laboratory science to overcome political, cultural,
and economic challenges.
Collectively, we have worked with many individuals and
groups that are working to initiate and/or improve NBS in
developing environments. Together, and with others, we
have identified certain characteristics of developed and de-
veloping NBS systems that appear to enhance their chances
for sustainability: (1) strong leadership in developing pilot
studies and working towards national program implementation;
(2) strategic advocacy programs targeted at providing policy
makers, health professionals and the public with a basic under-
standing of the operation and value of NBS; (3) strong collabo-
rations between different stakeholder groups (government
organizations, nongovernment organizations [NGOs], and
individuals) in planning and implementation; and (4) inno-
vative and sustainable financial strategies.
In this report, we will briefly summarize the status of NBS
efforts in a large part of the developing world (the AP and
MENA), review some of the challenges in implementing and
sustaining NBS in an economically developing environment,
and discuss some example approaches and experiences in
overcoming internal barriers to NBS implementation. Where
possible, we will provide examples of successful activities,
often drawing from the experiences of the Philippine NBS
program and other progressive developing programs.7 We
will focus on the NBS activities that are still developing, ac-
knowledging that there are also many developed programs in
these regions that can and have served as models for success.
In addition to the well-developed programs in Australia,
Hong Kong, Japan, New Zealand, Singapore, Taiwan, and
Guam, for purposes of this article we will include South
Korea, Thailand, and Israel as developed programs and out-
side of the scope of this discussion.
Current Status of
Screening in the Asia Pacific
and the Middle East/North Africa
In assessing the global burden of birth defects and congenital
conditions, Christianson et al reported that once infant mor-
tality decreases below 50/10,000 births, the genetic and con-
genital conditions have important health impact.8 This is the
case in most of the countries in the AP and MENA regions. An
overview of the demographics of countries within both re-
C.D. Padilla, D. Krotoski, and B.L. Therrell Jr
gions, including basic information about their NBS coverage,
is given in Table 1. In the MENA region, cultural factors have
led to larger numbers of consanguineous marriages with a
consequent corresponding increased expression of recessive
and potentially deleterious conditions in newborns.11-14 De-
veloped countries have shown the importance of NBS in pre-
venting developmental disabilities and reducing infant mor-
bidity and mortality. Thus, NBS has become a program of
increasing importance in developing countries. Table 1 sum-
marizes population totals, annual births, gross national in-
come, fertility rates, and percentages of government budgets
allocated for health within the AP and MENA regions to
highlight some of the obvious challenges in implementing
sustainable NBS.
In recent years, 3 NBS conferences have been conducted in
the AP and MENA regions to initiate a dialog concerning
experiences and needs. These conferences also provided an
opportunity to develop a communications network within
the 2 regions as a source of support and information sharing.
Summaries of the meetings are available online (http://www.
newbornscreening-mena.org/index.html; http://isns.napoleon.
ch/upload/dokumente/mena%20nbs%20publication.pdf; and
http://www.newbornscreening.ph). Two MENA regional meet-
ings have been held; the first in Marrakech, Morocco (2006),
and the second in Cairo, Egypt (2008). The first AP regional
meeting was held in Cebu, Philippines (2008), with a second
planned for 2010. In these meetings, representatives from
screening projects and/or health ministries provided updates
concerning NBS implementation activities. Experts from devel-
oped programs in various parts of the world also attended and
provided assistance in developing national “plans of action”
aimed at NBS expansion.
At the first MENA conference, participants from 18 MENA
countries developed the so-called “Marrakech Declaration,”
which states that, “Newborn screening is an important tool in
the prevention of disease and disability in our children and
thus should be a key part of a comprehensive public health
system in all of our countries.” Conference participants rec-
ommended that “all countries in the region should screen for
at least one condition and develop a national model program
that takes into account all aspects for post-testing care.”15 At
the first AP conference, participants from 11 countries in the
AP region developed a “Cebu Declaration”16 with similar lan-
guage regarding future planning. Despite the relatively sim-
ple goal of screening a single condition in each country, many
of the low- and middle-income countries in each region face
significant implementation challenges, particularly where
health systems are stressed.
Challenges in
Implementing Newborn
Screening in a Developing Country
Our experiences with both developed and developing NBS
systems have identified the following 10 challenges to suc-
cessfully implementing sustainable NBS1-4:
Developing countries - overcoming barriers 147

Table 1 Demographic Indicators of Countries at MENA and Asia

2008*

Total Annual No. Infant Mortality GNI Per Total % Central Government Percentage
Population Births Rate (Per 1000 Capita Fertility Budget Allocated to of Infants
Countries and Territories (Thousands) (Thousands) Livebirths) (US$)† Rate‡ Health 1998-2007 Screened§

Middle East and North Africa

Algeria 34,373 714 36 4260 2.4 4 —
Bahrain 776 14 10 19,350¶ 2.3 8 —
Egypt 81,527 2015 20 1800 2.9 4 94.4
Iran (Islamic Republic of) 73,312 1388 29 3470 1.8 6 84.4
Jordan 6136 157 17 3310 3.1 10 —
Kuwait 2919 52 9 38,420 2.2 5 —
Lebanon 4194 66 12 6350 1.8 2 31.4
Libyan Arab Jamahiriya 6294 147 15 11,590 2.7 — —
Morocco 31,606 646 32 2580 2.4 3 —
Occupied Palestinian Territory 4147 148 24 1230¶ 5.0 — —
Oman 2785 61 10 12,270 3.0 7 98.9
Qatar 1281 15 9 12,000¶ 2.4 — 100.0
Saudi Arabia 25,201 591 18 15,500 3.1 6¶ 13.7
Syrian Arab Republic 21,227 590 14 2090 3.2 2 —
Tunisia 10,169 164 18 3290 1.8 5 —
United Arab Emirates 4485 63 7 26,210¶ 1.9 7 100.0
Yemen 22,917 843 53 950 5.2 4 —
East Asia and the Pacific
Cambodia 14,562 361 69 600 2.9 — —
China 1,337,411 18,134 18 2770 1.8 <1 40
Indonesia 227,345 4220 31 2010 2.2 1 <1
Korea (North) – No data available –
Lao People’s Democratic Republic 6205 170 48 750 3.5 — <1
Malaysia 27,014 551 6 6970 2.6 6¶ >95**
Mongolia 2641 50 34 1680 2.0 6 <1
Nepal 28,810 732 41 400 2.9 7 —
Palau 20 <1 13 8650 — — >70
Philippines 90,348 2236 26 1890 3.1 2 28
Vietnam 87,096 1494 12 890 2.1 4 <1
South Asia
Bangladesh 160,000 3430 43 520 2.3 7 <1
India 1,181,412 26,913 52 1070 2.7 2 <1
Pakistan 176,952 5337 72 980 4.0 1 <1
Sri Lanka 20,061 365 13 1790 2.3 6 <1
*All demographic data are from the UNICEF website9 except for Palau annual births, which are reproduced from Palau statistics.10 Births in
Palau are approximately 350/yr.
†GNI per capita – Gross national income (GNI) is the sum of value added by all resident producers, plus any product taxes (less subsidies) not
included in the valuation of output, plus net receipts of primary income (compensation of employees and property income) from abroad. GNI
per capita is gross national income divided by midyear population. GNI per capita in US dollars is converted using the World Bank Atlas
method.
‡Total fertility rate – Number of children who would be born per woman if she lived to the end of her childbearing years and bore children at
each age in accordance with prevailing age-specific fertility rates.
§Data for MENA countries are reproduced from Krotoski D, Namaste S, Raouf, RK, et al: Genet Med 11:663-668, 20094; data for Asia Pacific
countries are reproduced from a report by Padilla CD and Therrell BL6; except for China (personal communication with Xue Fan Gu); Laos
(personal communication with Saysanasongkham Bounnack); Philippines (http://www.newbornscreening.ph); and Palau (personal commu-
nication with Eluisa Reyes).
¶Data refer to years or periods other than those specified in the column heading, differ from the standard definition, or refer to only part of a
country.
**Percentage of infants screened is for G6PD only, as reported in the study by Padilla CD and Therrell BL6; the extent of coverage for congenital
hypothyroidism is not known.

1. Planning—including basic knowledge and vision,
creating a national strategy and systematic expansion
to hospitals and other regions, pilot studies, and full
implementation, ie, starting the program, validating
the value of NBS, and creating a plan for program
development, implementation, and sustainability.
2. Leadership—identifying key leader(s) or group(s) to
develop and expand the plan, ie, self starters with
vision, desire, perseverance, and the ability to lead
and accomplish.
3. Medical support— building support within the med-
ical community, ie, fostering medical and scientific
knowledge development, collaboration, and consen-
sus treatment strategies (especially in areas where
there is lack of metabolic and endocrine specialists).
4. Technical support—providing for technical training
and knowledge sharing, ie, proper specimen collec-
tion and transport procedures, parent education,
quality laboratory testing (including screening, con-
firmation, and expansion to multiple testing sites),
and screening follow-up/tracking (including clinical
confirmation).
5. Logistical support— creating mechanisms for obtain-
ing and distributing blood collection supplies, train-
148
ing testing and follow-up personnel, transporting
specimens to testing laboratory(ies), providing for
screening laboratory operations (equipment, supplies,
and maintenance), maintaining appropriate records, and
timely reporting of screening results.
6. Education— developing appropriate education and
public relations materials for education and support,
ie, educating consumers, healthcare providers, and
policy makers.
7. Protocol/policy development— developing appropri-
ate screening procedures and policies that adequately
address all NBS system components, ie, education,
screening (including consent/dissent), follow-up/
tracking, diagnosis, treatment/management, and eval-
uation.
8. Administration—managing the overall screening sys-
tem, including obtaining and documenting physician
and patient compliance, ie, screening, short-term fol-
low-up, and health outcomes (long-term follow-up).
9. Evaluation— developing a comprehensive quality as-
surance program that monitors critical indicators for
success, ie, external laboratory proficiency testing and
evaluation of other well-defined system success indi-
cators such as NBS Performance Evaluation Assess-
ment Schemes.17,18
10. Sustainability— establishing NBS sustainability, ie,
integration into the public health system with a plan
for financial sustainability (such as inclusion in health
insurance schemes).
Elements in Overcoming
NBS Implementation Challenges
The 10 challenges outlined above are not easily overcome.
Nonetheless, they have been successfully dealt with to vary-
ing degrees in all developing programs. The extent of govern-
ment cooperation and the ability to meet all challenges suc-
cessfully have directly affected the speed at which NBS has
been (and is being) implemented and the extent of newborn
coverage. Strengthening local leadership and developing in-
frastructure have been identified as critical to successful NBS
implementation. Also, significant are strategic advocacy ac-
tivities, such as: support of the health ministry, expert advice,
involvement of other government and nongovernment agen-
cies, mobilization of health professionals as program cham-
pions, use of the various media (press, radio, television), and
knowledgeable parent advocates.
Leadership and Coordination
With Government Health Programs
The person(s) or group that seeks to initiate NBS in a devel-
oping environment has often observed NBS during studies or
visits in a developed setting. The initiator may or may not be
a government servant. Regardless, to ensure national cover-
age, which is the ultimate goal of most NBS programs, the
person(s) championing NBS in a developing country must
eventually coordinate with the government. This coordina-
C.D. Padilla, D. Krotoski, and B.L. Therrell Jr
tion is an important step to sustainability as there are usually
many government services and networks that can assist, and
considerable manpower that can be used for screening activ-
ities instead of organizing duplicative (and sometimes com-
petitive) systems. The presence of an existing maternal and
child health infrastructure, for example, has the potential for
rapidly providing a mechanism for spreading NBS activities
throughout the country (including remote areas) by utilizing
nurses, clinics, and other service delivery systems already in
place. Some developing programs have found advantages in
utilizing other health infrastructures. For example, govern-
ment hospitals have been successfully used as models for
program implementation as their services are more easily
controlled through government regulations. Similarly, health
clinics and birthing centers managed by the health ministry
may be more readily accessible for NBS activities.
Government-run immunization programs have also been
used to aid in NBS implementation as they usually include an
institutionalized infrastructure. As examples, supplies and
specimens have been delivered through transport systems
used for vaccine distribution. In some settings, immunization
personnel have assisted in collecting specimens at the time
newborns receive their first vaccinations. In cases where vac-
cination schedules may not allow for early specimen collec-
tion (when the first vaccination occurs later than the first few
days of life), the population-based nature of most immuniza-
tion systems provides a mechanism for interacting with vir-
tually all newborns (including remote locations). Such an
organized system can be important in ensuring that all new-
borns are provided with a screening opportunity (for some if
not all conditions) and in following up on initial unsatisfac-
tory or out-of-range screening results.
Where public health education systems and/or public
health educators exist, these systems and/or personnel have
often been available for a wider range of health-related edu-
cational activities, including NBS. Because public health ed-
ucation systems usually include materials distribution mech-
anisms and means for evaluating patterns of usage, they are
ideally situated to aid in producing and distributing NBS
educational pamphlets. In this way, the developing NBS pro-
gram can operate inexpensively without the need to dupli-
cate infrastructure expenses already incurred in the health-
care system. Experienced program personnel already in place
can also provide insights into efficiency and effectiveness that
might otherwise take significant amounts of time to develop.
Record Keeping
Developing NBS programs should be able to profit from les-
sons previously learned by developed programs. One such
example involves record keeping. Already existing health
records systems in the public health sector can provide a
ready mechanism for recording NBS information. The Phil-
ippine NBS program, for example, has been able to use such
a system for rapid evaluation of the extent of its program
services. In this case, every health professional can check the
NBS status of an infant at the time of the first healthy infant
visit by checking to see whether there is a date recorded for
Developing countries - overcoming barriers
Figure 1 Early Childhood Care and development Card, Department
of Health-Philippines showing space for including date of newborn
screening.
NBS in the appropriate box in the immunization record
(Fig. 1). If there is no indication that screening occurred, the
parent can be offered NBS at that time.
Policy Development
NBS policy development requires knowledgeable individuals
to administer the technical details of the program and com-
petent government officials to ensure accessibility and sus-
tainability within the public health system. Properly devel-
oped and administered health policies must include
assignment of responsibilities for health program implemen-
tation and administration at all levels of operation. Policies
governing the system should include plans of action for or-
ganizational structures that provide adequate system imple-
149
mentation at the local level. Without integration into the
public health system, NBS programs are not sustainable at
the national level.
Legislation
Governments usually maintain the public’s health through
policies that may be established through governmental proc-
lamations, laws, policies, administrative orders, or policy-
related rules and regulations. While most developed NBS
programs have successfully accomplished health care inte-
gration without legislative requirements, at least 2 of the de-
veloping programs highlighted here (China and the Philip-
pines) have found national legislation to be helpful. In China,
Presidential Order Number 33, Article 24 (1994) stated that,
“medical and health institutions shall gradually develop med-
ical and health care services such as the screening of newborn
babies.”19 In the Philippines, Republic Act 9288, Article 1,
Section 3 (2004) states that, “every newborn must be given
access to newborn screening” and Article 3 states that, “any
health practitioner who delivers, or assists in the delivery, of
a newborn in the Philippines shall, prior to delivery, inform
the parents or legal guardian of the newborn of the availabil-
ity, nature, and benefits of newborn screening.”20,21
Rights of the Child
The United Nations (UN) Convention on the Rights of the
Child requires signatories to “recognize the right of the child
to the enjoyment of the highest attainable standard of health”
(Art. 24(1)). In ensuring these rights, parties are to take ap-
propriate measures to “diminish infant and child mortality”
(Art. 24(2a)) and to “ensure the provision of necessary med-
ical assistance and health care to all children with emphasis
on the development of primary health care” (Art. 24(2)).22
Most countries have signed agreement to this convention.
The UN Convention on the Rights of the Child has been
particularly useful in approaching government policy makers
in the developing world regarding NBS. Recognizing the
“Rights of the Child” often has been used as part of the argu-
ments for persuading government policy makers of their re-
sponsibilities in providing NBS as a preventative measure for
improved newborn and child health. Both the Marrakech and
Cebu Declarations make reference to the UN Document.15,16
Advisory Committees
Developed screening programs usually have a NBS advisory
committee of some type, not only for advice but also for
professional assistance and advocacy.23 Aside from technical
expertise, the advisory committee also includes individuals
who can adequately represent professional and community
groups interested in or affected by NBS. In most developing
programs, it has also been useful to have an advisory group,
particularly to achieve buy-in from professional healthcare
providers and consumers as the program develops. Because
the committee approach is often slow and deliberate, partic-
ularly when it is multidisciplinary and the knowledge level is
low, most developing programs have found it expeditious to
150
use advisory groups sparingly until the groundwork for the
program has been laid.
Strategic Advocacy Programs
Education programs (for consumers, health care profession-
als, and policy makers) and public relations activities have
been found to be essential for successful implementation of
the NBS system. Without support from the local medical/
paramedical community and medical specialists, NBS advo-
cates face an uphill battle. Whether implemented in the hos-
pital or community setting, the health professional plays a
key role in educating and motivating families about the im-
portance of NBS. The families, in turn, can assist the health
professionals in convincing policy makers to expand and
assist in sustaining NBS at the national level. Successful de-
veloping programs have been creative in their educational
approaches, including ensuring cultural and educational ap-
propriateness. As an example, the Philippine NBS program
has created various books, educational CDs, and manuals for
professionals working within the system, and a basic reading
level comic book has been created for parents (information
on manuals available at http://www.newbornscreening.ph).
As with developed programs, developing programs have also
created local cook books for parents of children with meta-
bolic problems requiring special diets.
Expert Assistance
External experts with experience in developed settings often
have been used by developing NBS programs to present ed-
ucational seminars to professionals, policy makers, and con-
sumers. Their presence, in some cases, has been useful in
adding a sense of program legitimacy for policy makers. As
part of the activities of the MENA effort, experts in NBS for
congenital hypothyroidism prepared flip chart educational
materials for local advocates to use in convincing government
policy makers of the importance of screening and to answer
their basic questions about program development. These mate-
rials were developed in English, French, and Arabic and are
available on the MENA Web site (http://www.isns-neoscreening.
org/htm/isns_regions.htm). A reference book based on experi-
ences in the AP has also been produced.24
Health Ministry Support
While many NBS programs have originated outside of the
public health system as either private (individual or collabo-
rations) or corporate (commercial) efforts, none have devel-
oped into national systems reaching the full population of
newborns without the support of the health ministry. Private
entrepreneurs often have begun NBS in an effort to reach
portions of the population (most notably the private pay
clients), but full population screening, including the indigent
population, has usually not been the goal of nonpublic health
systems. Methodical development of NBS system infrastruc-
ture and assessment of the conditions for which NBS can be
most productive ultimately must include integration into the
public health system. To accomplish this effectively requires
political awareness and perseverance. While the public
C.D. Padilla, D. Krotoski, and B.L. Therrell Jr
health system has sometimes been reluctant to take the lead
in implementing NBS at the grassroots level, the reluctance
has usually diminished as the program has been shown to be
successful in reducing childhood morbidity and mortality.
For example, NBS programs in the Philippines, Egypt, Qatar,
and Abu Dhabi now have full government support. While
coverage in the latter 3 countries is essentially 100%, govern-
ment support in the Philippines is relatively recent and cov-
erage has expanded from 5.2% coverage to 30% coverage in
the 5 years that it has been a part of the government public
health system.4,20,25
Other Government Support
Many other examples of government participation exist, in-
cluding: (1) addition of NBS into the required curricula of
health-allied courses (such as medicine, nursing, and mid-
wifery); (2) involvement of government employees (physi-
cians, nurses, and midwives) in advocacy campaigns; (3) use
of other government funds for support services such as pro-
duction of informational materials (in the Philippines, China,
Egypt, Iran, and others).
Health Professionals
and Hospital Involvement
Especially in beginning programs, it is important that general
physicians, pediatricians, obstetricians, health administra-
tors, and other private practitioners have information on the
history of NBS, the rationale for its existence, benefits to
individual newborns, families and society, financial strate-
gies, and future plans. The goal is to make every health care
practitioner into a passionate advocate of the program. Re-
wards for performance in reaching program milestones have
been effective in encouraging program participation in some
developing settings. As an example, in the Philippines, bien-
nial awards have been routinely presented to hospital man-
agement and individuals to acknowledge their contributions
in significantly increasing newborn screening coverage (Fig.
2). Contests have been held to encourage advocacy through
posters in hospital waiting areas, and banners have been dis-
played in front of hospitals participating in NBS advocacy
programs. Billboards have been used to advertise the impor-
tance of NBS and videos are often available in hospital wait-
ing rooms.
Media
Tri-media campaigns have proven extremely useful in accel-
erating community support for NBS. In most developing
countries, a significant percentage of the population is most
easily reached through the various public media, ie, radio,
television, and newspaper. Therefore, NBS advocates in de-
veloping countries sometimes avail themselves of opportuni-
ties on television and radio talk shows. Television and radio
public service announcements and magazine and newspaper
articles are other successful public relations strategies. Both
health professionals and parents have been used to endorse
NBS programs in the media. Extensive media campaigns
have successfully affected NBS start-up activities in the Phil-
Developing countries - overcoming barriers
Figure 2 Typical award given biannually to hospital management
and individuals given to recognize exemplary service to increase
newborn screening coverage in the Philippines.
ippines, and are being implemented in Libya and Jordan,
among others. The media have also played roles in tracking
down patients for follow-up in situations where screening
results have indicated a significant health problem and there
is difficulty locating the family. New smart phone technolo-
gies provide additional strategies for both educating the pop-
ulation and tracking children identified through newborn
screening.
Parents
Parents (private citizens) have been responsible for signifi-
cant successes in NBS in developing programs. Parents of
infants that have been spared the consequences of a devas-
Figure 3 Billboard display from Philippine featuring popular television and movie star accompanied by prominent
figures (President of Philippines and Secretary, Ministry of Health) endorsing newborn screening in native language.
151
tating congenital condition often have become dedicated ad-
vocates of the screening program. They have assisted in cre-
ating a demand for NBS in communities or hospitals where
skepticism has previously existed. In the Philippines, an ad-
vocacy/informational videotape in Tagalog describes the
value of NBS. Parents with children suffering from late diag-
nosed conditions that could have been prevented by NBS
have graciously agreed to have their children featured along-
side of detected and saved children in media advertisements
for NBS. Billboards (Fig. 3), posters, and web pictures depict
2 children—1 saved by screening and 1 who was not (Fig. 4).
These pictures have provided “faces” to NBS and encouraged
parents to obtain screening when they might not have done
so otherwise. Policy makers have also been affected by these
faces of newborn screening.
Non-Government Organizations
In addition to the government sector, the NGOs have also
played a significant role in NBS in the developing world.
NGOs include academic institutions, health professional so-
cieties, insurers, civic organizations, sectarian and religious
groups, and other organizations in the public. Professional
societies have advanced NBS through policy statements and
other professional activities and advocacy. Academic centers
have played major roles in managing and treating patients
identified through screening, monitoring treatment and/or
compliance with treatment, and providing expertise for de-
veloping training and educational materials.
Public service organizations such as the Lions Club Inter-
national and Rotary International are examples of organiza-
tions providing funding for such items as informational
materials, laboratory equipment, laboratory facilities, and
services for charity patients. The UN Children’s Fund
(UNICEF) has provided support funding for the production
and distribution of informational brochures on newborn
screening in several developing countries. The March of
Dimes Birth Defects Foundation has provided financial sup-
port for expert NBS speakers at national and regional meet-
ings. Sectarian and religious groups have also influenced cer-
tain populations to accept the principles of screening. In
some countries, like the Philippines, NBS concepts have been
152
Figure 4 Children representing the “faces” of newborn screening on
poster and website from Philippine newborn screening program.
Pictures used with permission of parents.
integrated into certain religious activities such as prenuptial
seminars for couples. In cases where there is an NBS fee and
NBS coverage is not included in their insurance program,
early recognition of the importance of NBS allows parents the
opportunity to save money for screening.
Program Institutionalization
To be sustainable, NBS must be developed as a comprehen-
sive system. Formal recognition and institutionalization of
C.D. Padilla, D. Krotoski, and B.L. Therrell Jr
the NBS program as a public health program is one of the
most important steps in implementing and sustaining NBS.
The US Association of State and Territorial Public Health
Officials (ASTHO) has recently recognized NBS as a “core”
public health function.25 A 6-component NBS system was
noted in the Introduction to this report. All of these compo-
nents must exist in a developing screening system: (1) screen-
ing—specimen collection and quality laboratory testing; (2)
short-term follow-up—tracking and confirmatory testing;
(3) diagnosis—through clinical specialists; (4) manage-
ment— using appropriate pharmaceuticals and appropriate
dietary management; (5) evaluation— documentation of pa-
tient compliance and improved health outcomes, and exter-
nal laboratory proficiency testing; (6) education—for con-
sumers, health professionals, and policy makers.1
Prompt recall of patients suspected with disorders identi-
fied through screening is one of the critical parts of the sys-
tem. Government public health clinics and outreach pro-
grams in developing settings have provided a means of
patient contact that has been particularly useful in both rural
and urban settings. In the urban environment, government
clinics and government hospitals, which are usually available
to most of the population, have been used as part of the NBS
follow-up system. In rural areas, public health nurses, local
clinics, and an informal health network have usually pro-
vided the necessary follow-up.
For successful screening, specialty care (pediatric endocri-
nology and metabolic physicians) must be available and ac-
cessible to assist with proper diagnoses and patient manage-
ment. In developing settings, specialty care is limited and
may be available only at, or in conjunction with, government
hospitals or medical centers. Limited access may also exist in
the private sector. In cases where a specialty provider is not
readily available, developing programs often find it necessary
to rely on a physician who has had experience with the
screening disorder in training, or who may have a special
interest in the disorder. In some cases, specialists may be
contacted electronically or by telephone for assistance, and
telehealth is an increasing priority in developing countries. In
addition to specialty care challenges, there are also issues that
must be addressed regarding pharmaceutical supplies. Med-
ical foods, formulas, and pharmaceuticals are often difficult
to obtain in a developing country and relationships with
suppliers outside the country have been useful in both im-
plementing and sustaining some of the treatments necessary
for screened conditions. Parent advocates in developed coun-
tries have sometimes assisted in providing limited supplies
and drawing attention to national needs.
Once NBS has been implemented, continuing education
becomes a priority. Because human resources are scarce and
time limitations often preclude extended training for large
numbers of workers, workshops that “train the trainer” have
been popular, sometimes on a regional level. As an example,
the International Atomic Energy Agency (IAEA) has spon-
sored regional workshops in the AP to train laboratory spe-
cialists in testing procedures for congenital hypothyroidism
(CH). Similar workshops have been held for program admin-
istrators and follow-up coordinators.26 Programs that have
Developing countries - overcoming barriers
been successful in expanding nationally have provided sim-
ilar training in various regions of their countries. The Japa-
nese International Cooperation Agency (JICA) has also pro-
vided initial training and ongoing support to developing NBS
programs.27 Many educational resources are available from
developed and more advanced developing programs and
most have found it prudent to supplement their training
activities with these materials (videotapes, various books and
pamphlets, protocols). Once training materials are developed
locally, it is a simple matter to update and redistribute them
periodically.
The logistics of specimen transport and result communi-
cations have required special attention in many developing
countries. Mail is often not reliable and so it has been neces-
sary to work locally with organizations that specialize in these
services to develop sustainable systems. In some cases, spe-
cial shipping arrangements have been made with courier,
bus, and postal services. In climates where heat and humidity
might compromise specimen integrity, special attention has
been paid to transport in air-conditioned vehicles or special
packaging. Result reporting has been facilitated by special
telephone, telefax, or other special telecommunication ar-
rangements. Where test results have required immediate
(emergency) follow-up, government police and media an-
nouncements have been used to locate families.
Financial Sustainability
The ideal situation for financial sustainability in a developing
program is full government support. However, because of
other competing health priorities, full government support of
NBS is usually not possible. As a result, developing programs
have been faced with the challenge of innovation in their
financing approaches. Often, small grants have been used for
initial planning and pilot testing, but long-term financing in
this way is not practical. For many developing programs,
initial screening efforts have required a small fee paid by the
family. Unfortunately, there is extensive poverty in countries
where NBS is developing and even a small fee can be a chal-
lenge to many families. In contrast, the NBS fee is usually
substantially less than other prenatal medical services in
these settings, and is considered a bargain relative to other
healthcare costs.
Most NBS programs (developed and developing) develop
plans to ensure that the entire newborn population can ac-
cess NBS, regardless of their ability to pay. While this may not
be possible in the early implementation of a developing NBS
program, the goal is always present and sustainability plan-
ning must include financial support for those who cannot
pay. To offset screening fees (where they exist), some pro-
grams, most notably the Philippines,20 have developed fi-
nancing strategies and educational programs to encourage
parents to save for this expense. In some cases, altruistic
organizations and local governments have provided financial
assistance through gifts or loans to lower or eliminate costs.
To be totally sustainable at the national level, NBS must ulti-
mately be a part of government and private insurance. Pro-
153
grams in Egypt, Jordan, and the Philippines provide success-
ful examples of inclusion in government insurance programs.
Financing is usually handled by the central administration
of a NBS program. Because adequate program funding is
essential, most NBS programs spend considerable time and
effort developing appropriate costing data and planning pro-
gram finances. In cases where fees are necessary, a sound
billing and collection system must exist, and the fee must be
comprehensive (ie, it must include the items necessary for
sustainability— education, screening, follow-up). Two pri-
mary fee collection mechanisms exist: (1) direct billing to the
birthing facility following testing, and (2) billing for NBS
collection cards purchased before screening. The former re-
quires the program to pay for itself pending payment after
testing, while the latter can be established in such a way as to
have the collection kits paid for in advance of testing. Both
systems have been used in developing programs.
Program Quality
As with developed NBS programs, quality assurance and pro-
gram evaluation are essential to sustainability. Where quality
does not exist, programs cannot maintain the confidence of
the public or the medical community and they soon fail.
Various program evaluation schemes have been used in de-
veloping programs, but all include some form of data accu-
mulation and review. Laboratory quality management has
generally used internal controls and standards supplied by
reagent kit manufacturers, and external proficiency testing
from sources such as the US Centers for Disease Control and
Prevention28 and others.29-31 NBS laboratory services are not
limited to screening laboratories alone, and diagnostic labo-
ratories that are part of screening confirmation must also be
included in quality considerations. Because evaluation of
nonlaboratory components of the NBS system are equally
important to sustainability, the NBS self-evaluation process
used in the United States18 has been encouraged for use in
defining various system elements. However, the complexity
of developed systems can be overwhelming to a developing
program, and so using the US Performance Evaluation As-
sessment Schemes as a guide, several developing programs
have created their own evaluation systems.17
Conclusions
Changing demographics and advances in technology and
treatment for rare conditions has led to increased interest in
newborn screening in developing countries in general, but
particularly in the AP and MENA. Heterogeneity of popula-
tion size, income, health systems, and infrastructures has
contributed to varied NBS experiences across both regions.
Recent regional meetings in both the AP6 and MENA4 have
led to commitments to increase screening activities, which
have been formalized in the Cebu16 and Marrakech15 Decla-
rations, respectively. These declarations provide a valuable
first step in implementing and sustaining NBS in the coun-
tries in both regions. The challenge of institutionalizing a
screening program for a single condition in countries with
154
little screening activity, expanding a pilot project to a na-
tional program, and expanding limited disorder screening to
multiple disorders requires diligence in successfully meeting
the challenges outlined in this report.
To date, a limited number countries in the AP and MENA
report having national NBS programs that screen for at least 1
condition. These include the Philippines, Egypt, Iran, the
Palestinian Authority, Bahrain, Oman, Qatar, and the United
Arab Emirates. In several of these, multiple conditions are
screened. Various strategies have been used, but all have
included integration into government programs and some
form of public-private cooperation. In the Philippines and
Qatar, initial screening activities involved outsourcing spec-
imens to developed screening laboratories in Australia and
Germany, respectively. This may provide a usable model for
some of the later developing programs.
While most programs have focused on initial screening for
congenital hypothyroidism, which is known to be cost-effec-
tive in most screening settings, tandem mass spectrometry
(MS/MS) for metabolic conditions has also been embraced by
some developing programs. While considered expensive and
technically challenging, MS/MS screening for metabolic con-
ditions will likely prove cost-effective in developing countries
where consanguinity leads to increased incidence of meta-
bolic conditions. Ongoing MS/MS pilot studies in Lebanon,32
Qatar,25 and Saudi Arabia5 should provide useful information
for other countries in the MENA region. Indeed, they may
provide regional resources for testing that can be utilized by
neighboring countries. Similarly, MS/MS data from projects
in China33 should provide useful cost-benefit and incidence
data with implications for the large AP screening population
there.
In addition to the regional meetings previously described,
other forms of international collaboration have provided op-
portunities for meeting the challenges of establishing and
strengthening NBS in developing countries. The IAEA has
provided limited support (technical training and administra-
tive support) for CH screening in many AP and MENA coun-
tries.27 For many years, JICA has provided NBS training
courses for developing countries both within and outside of
the AP and MENA regions.28 Commercial initiatives through-
out both regions have provided innovative pricing for re-
agents and equipment that has encouraged NBS growth and
expansion. Experts from various developed programs have
contributed time and energy to training and transferring
knowledge to many of the developing programs. Likewise,
progressive government officials in some of the developing
countries have provided necessary support that has led to
increased program implementation and expansion.
In the future, new communication technologies may play a
large role in educating parents and professionals about NBS.
Likely, these technologies will have a large impact on the
developing world, including issues of technical support and
data collection in remote locations. Strategic planning will
continue to be critical to sustainable NBS, and multinational
collaborations will continue to provide necessary support.
National and regional data collection will provide the neces-
sary information for policy decisions, and the development of
C.D. Padilla, D. Krotoski, and B.L. Therrell Jr
international information technology standards and com-
mon definitions will assist in this effort. Finally, development
of new, low-cost, point-of-care nanotechnologies for testing
newborns for a broad range of conditions may provide new
strategies for testing and following up affected children.
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