Kemuel Ian Cometa

Group 3

Genetic Screening in Quezon City

Term Paper/ Essay

Technology has expanded the frontiers of medicine, allowing the

healthcare system to widen its scope and explore new treatments. It has
equipped health professionals to address the changing needs of our people and,
more importantly, prepare our families against the threat of diseases. In the
Philippines, infectious diseases are in the top ten causes of infant mortality
and morbidity. According to the Department of Healths data, pneumonia,
diarrhea and congenital anomalies are the leading causes of death among
children below 5 years of age as of 2010. As opposed to the increasing trend of
child mortality, the Millennium Development Goals (MDG) target of reducing
child mortality was proposed in 1990. The Philippines has a chance in
attaining this goal if the government will provide professional healthcare to
expectant mothers, said the United Nations Children's Fund (UNICEF)
Representative Tomoo Hozumi. Two forms of Genetic screening has been
introduced to the country: Newborn Screening and Genetic Counseling.
In our country, patients born with rare disorders are considered rare if
its incidence is at least 1 in every 20,000 Filipinos. With nearly 93 million
Filipinos, the community of people with rare genetic disorders maybe roughly
estimated at 5,000. Most expectant mothers have babies with rare disorders
that look and act normally and seem healthy at first. One will never detect if
the baby has the disorder until the signs and symptoms are manifested. By
this time, irreversible consequences are already present and another vulnerable
and innocent infant would take its life. Despite the alarming situation, it is
often ignored and most are unaware since congenital anomalies and genetic
diseases are given less attention by the government, private sector, and the
public. Another reason would be that there are very few doctors who specialize
on rare genetic disorders. Third, the pharmaceutical companies overlook the
manufacture of treatment due to its very limited profit potential. And lastly,
because of the rare and genetic nature of these disorders, researches can be
very painstakingly long and difficult.

One way to prevent infant mortality is through newborn screening (NBS)

is a public health activity aimed at the early identification of infants who are
affected by certain genetic/metabolic/infectious conditions which could cause
mental retardation or early and unexpected death. NBS in the Philippines was
introduced in June 1996 by a group of obstetricians and pediatricians from 24
Metro Manila hospitals. The group named itself the Newborn Screening Study
Group (NSSG) and its project was called the Philippine NBS Project (PNBSP). It
was integrated into the public health delivery system with the enactment of the
Republic Act 9288 also known as the Newborn Screening Act of 2004. RA 9288
established the National Comprehensive Newborn Screening System (NCNBSS)
which was to ensure that a) that every baby born in the Philippines is offered
NBS; b) the establishment and integration of a sustainable NBS System within
the public health delivery system; c) that all health practitioners are aware of
the benefits of NBS and of their responsibility in protecting their child from any
of the disorders A major boost for Filipino families and PSOD came from
Senator Edgardo Angara who announced last February 2009 his support for
the Right to Life by filing Senate Bill 3087 or the Rare Diseases Act of
the Philippines. Congressman Arthur Y. Pingoy, MD, chairman on the
Committee on Health at the House of Representatives, also filed Lower House
Bill 6937, a counterpart of the senate bill, on October 2009.
The program currently includes six disorders are currently being
screened. As of December 2011, the incidences of the following disorders are:
Congenital Hypothyroidism or CH; Congenital Adrenal Hyperplasia or CAH;
Phenylketonuria or PKU; Galactosemia or Gal; Glucose-6-Phosphate
Dehydrogenase Deficiency or G6PD deficiency; and Maple Syrup Urine Disorder
or MSUD. In order to have a high probability of accuracy, NBS should be done
from the 24-72 hours after a child is born. Blood sample would be garnered
from the heel of the infant and placed in a special filter card. This card would
be sent to the Newborn Screening Center. If the result is negative, the child is
normal. Otherwise, the child should be immediately brought to a specialist and
acquire medication.
In 2004, the establishment of the Newborn Screening Reference Center
(NSRC) marked a major initiative in addressing the needs of the NBS system.
The NSRC was envisioned to provide technical assistance to DOH and other
NBS stakeholders and assume a leadership role in examining the totality of the
NBS system, including the necessary linkage to health facilities and birthing
homes. The charge to the NSRC was to review and evaluate the issues and
challenges facing the nations NBS program and to make recommendations to
strengthen the program. There are four Newborn Screening Centers (NSCs)

NSC-National Institutes of Health in Manila; NSC- Visayas in Iloilo City; NSCMindanao in Davao City; and NSC-Central Luzon in Angeles City that provide
laboratory and follow up services for more than 4200+ health facilities.
In order to make the NBS more accessible and affordable to the general
public, the DOH issued Administrative Order 2005-0005 standardizing the
NBS Fee at P550 and setting the maximum allowable service fee at P50.25 One
year later, in 2006, as stipulated in the law, NBS became a mandatory DOH
hospital licensing requirement. Likewise, NBS was included as part of
Philippine Health Insurance Corporation (PHIC) accreditation of health
facilities, and 90% of the screening cost is paid by the national social health
insurance as part of the PHIC standard newborn care package.17 NBS is
included in the PHIC Newborn Care Package (NCP). NCP may be availed by any
qualified PhilHealth dependent delivered in accredited hospitals and
nonhospital facilities for Maternity Care Package that are certified as a
newborn screening facility.
Another way to prevent infant mortality is through genetic counseling.
The field of medical genetics in the Philippines is fast expanding due to the
increasing awareness and diagnosis of disorders with genetic etiologies,
expansion of the National Comprehensive Newborn Screening System, the Birth
Defects Surveillance project and the Telegenetics Referral System. Serving
approximately 90 million people, there are only eight clinical medical
geneticists available, six of them are currently practicing in Manila, one in
Cebu and one in Davao. Due to the limited number of clinical/medical
geneticists, there is a demand for additional health care providers specializing
in genetics to serve in clinical practice (public and private), academic medical
centers, administrative positions, and research laboratories.
Genetic Counseling is the process by which patients or relatives at risk of
a hereditary disorder are advised of the consequences of the disorder - the
probability of developing or transmitting it and the ways in which this may be
prevented, avoided or ameliorated. It focuses mainly on susceptibility to disease
in individuals who are suspected of having a heritable disease at risk because
of their family history concerned about the possibility of having an affected
child based upon personal or family history, age or ethnicity.
The University of the Philippines Manila produced the first-ever genetic
counsellors in the Philippines after establishing Masters Degree Program in
Genetic Counselling in 2011. Dr. Carmencita Padilla, the Director of Newborn
Screening Reference Center National Institutes of Health, and Mercy Laurino,
a genetic counsellor from the University of Washington, collaborated in

developing the Philippines first genetic counselling program. Ms. Laurino, an

awardee of the Balik Scientist Program (BSP) of the Department of Science and
Technology (DOST), shared the importance of genetic counselling to health
professionals in the country.
There are few laws in the country which serves to facilitate the proper
implementation of genetic services in the country. Few of them are discussed in
the previous texts and as the lead agency that is mandated to implement such
laws, DOH, recognizes that large group of the population is in the pediatric
group so the agency, together with Institute of Human Genetics National
Institute of Health, established the Volunteer Youth Leaders for Health (VYLH)
which is composed of students and other active members of the youth. This
group tends to promote heightened awareness among youth regarding genetic
screening and genetic health. The VYLH is a network of organizations and
leaders of youth based on university campuses and communities throughout
the country. They were organized to mobilize youth for health work. The
network is currently focusing on campaigns that uphold the significance of folic
acid supplementation for pregnant women to prevent birth defects; the
importance of new born screening; and gathering public support for the
immediate passage of the Rare Disease Act.
The DOH also focuses on modifying the training of barangay health workers,
local midwives, and nurses by integrating the knowledge of genetically based
diseases in the trainings and workshops. This is seen by the agency as an
efficient way in rapidly passing down the basic knowledge of these diseases and
their consequences to the grassroots level. The efforts made are not only by
DOH, but also with the efforts of concerned students and mostly the scientists
in pursuit of the advancement of genetic screening.
Genetic screening in the form of new born screening and genetic
counseling plays a great role in improving the medical condition in the
Philippines. The medical impacts of genetic screening are yet to be seen in full
action in Philippine setting but these processes promise better life quality
among men of all nation, including this country. Consequences to rare diseases
can be prevented and medical care can be can be greatly lessened because of
prevention. According to Ramos in 2013, one family that has a child tested
positive for a disease in new born screening program can lower its medical
costings by 80% only just because of prevention. Ramos said that if that childs
disease is let to take over, 80% of the medical cost will just go for medications
of the manifestations of the disease, which can be prevented if teste earlier.
Giving its undoubted contribution to the advancement of health of the people.

Though this technology offers promising effect on Filipino lifestyle and

health, this would not be felt by the broad Filipino mass if this kind of
development would be commercialized and would be used only for profit. Giving
its promising characteristics, this will be a highly valuable target for large
private medical corporations to be invested in and used as product for their
own interest. This would also affect the socioeconomic status of the Filipinos
because of not used well and if not use for the interest of the people it will be
just a tool for the accumulation of wealth to the big medical tycoons in the
country.
To further increase the potential of this technology, the government
should highly acknowledge its importance and impact on the lives of the
Filipinos. They should focus on increasing public spending on health,
especially the ones that are aimed at causes that are in line with genetic
screening. The government should not continue privatizing institutions that
bring social service to the people; institutions such as schools, and more
specially hospitals. Thus, aside from the health benefits of genetic screening, it
can still be at risk of exploitation and malpractice.
So it can be said that rapidly advancing field of health care that promises
greater precision and effectiveness than traditional medicine because it is
informed by each persons unique clinical, social, genetic, and environmental
information to prevent, diagnose, and treat disease
Even with its risk on socio-economical aspect, genetic screening, with its
implementation in the previous years have resulted to success stories which
can inspire its pioneers and its co-advocates to continue pushing through with
such developments.
Genetic counselling program increases the appreciation of genetic
counselling as part of clinical medical genetics service, offer genetic education
to patients and members of the family, refer patients and families to community
and/or local government support services, and develop policies and practice
guidelines to implement genetic counselling clinical services programs.
As of December 2008, the coverage of NBS remains low at 21%. The
following reasons have been identified as causes for the low percentage of
newborn population covered: 1) not all health practitioners are yet convinced of
the merits of NBS; 2) most parents do not yet fully understand the merits of
NBS; 3) cost of screening; 4) no penalties for NSFs not complying with the

licensing requirement; 5) there is no organized advocacy campaign but 61, 699

have been saved through screening since 1996 and in 2012, 49.6% of babies
born were screened out of the 1.8M deliveries in the country.
Globally, NBS is considered the most successful population-based
genetic screening program that has been integrated into the public health
systems. Most developed countries and some developing countries with
coverage of 100% validates this statement. The Philippines must take
advantage of lessons that can be learned from other NBS programs.
Sources:
Padilla, CD; Domingo, C for the Newborn Screening Study Group
Implementation of Newborn Screening in the Philippines. Philippine Journal of
Pediatrics, Jan-Mar 2002.
Padilla CD, Basilio J, and Oliveros Y. Newborn Screening: Research to Policy.
Acta Medica Philippina 2009. 43 (2):6-14
American Academy of Pediatrics, Newborn Screening Task Force. Serving the
family from birth to the medical home - Newborn screening: a blueprint for the
future. Pediatrics 2000;106(suppl):383-427.
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phenylketonuria in large populations of newborn infants. Pediatrics 1963;
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Bickel H, Gerrard J, Hickmans EM. Influence of phenylalanine intake on
phenylketonuria. Lancet. 1953;265:812-813.
Pass KA, Lane PA, Fernhoff PM, Hinton CF, Panny SR, Parks JS, Pelias MZ,
Rhead WJ, Ross SI, Wethers DL, Elsas LJ. U.S. Newborn Screening system
guidelines II: follow-up of children, diagnosis, management and evaluation
statement of the Council of Regional Networks for Genetics Services (CORN). J
Pediatr 2000;137:S1-46.
McCabe LL, Therrell BL, McCabe ERB. Newborn screening: rationale for a
comprehensive, fully integrated public health system. Molecular Genetics and
Metabolism 2002;77: 267-73.
DOH Administrative Order 2000 1a, 2000. Policies on the Nationwide
Implementation of Newborn Screening, January 3, 2000.
DOH Department Order No. 29-C s, 2001. Creation of the National Technical
Working Group on Newborn ScreeningProgram, February 7, 2001.

DOH Department Order No. 121 S. 2003. Strengthening Implementation of the

Newborn Screening System, December 9, 2003.
Proclamation No. 540. Declaring the 1st Week of October of each Year as
National Newborn Screening Week, January 20, 2004.
Republic Act No 9288 or Newborn Screening Act of 2004 available at
http://www.newbornscreening.ph accessed on April 1 2016
DOH Circular No.333 s. 2004. Rules and Regulations Implementing Republic
Act No.9288 otherwise known as theNewborn Screening Act of 2004. October
22, 2004.
DOH Memorandum. Authorized Newborn Screening Centers. October 28, 2005.