Governance of large research and medical databases in

research: the Philippines

Leonardo D. de CastroChair

Philippine Health Research Ethics Board

This PresentationThis Presentation

Newborn screening in the Philippines

Ethical issues that have arisen

Human genome as common heritage

Some ethical principles to consider

Newborn screening in the Philippines

Introduced in 1996

Six metabolic conditions— Congenital hypothyroidism, Congenital adrenal hyperplasia, Galactosemia, Phenylketonuria, Homocystinuria, and Glucose-6-phosphate dehydrogenase deficiency

Newborn Screening Act of Newborn Screening Act of 20042004

Republic 9288, entitled, “AN ACT PROMULGATING A

COMPREHENSIVE  POLICY AND A NATIONAL SYSTEM FOR ENSURING

NEWBORN SCREENING”

Promoting ScreeningPromoting Screening

NBS a mandatory licensing requirement for all hospitals

Screening as MandatoryScreening as Mandatory

One may refuse newborn screening for her baby only if her religious beliefs and practices do not allow this testing.

If she refuses to have the test done, she has to sign a paper stating that she refused to have her baby tested for these very serious disorders

 

Refusal to be Tested Refusal to be Tested  “…acknowledge in writing their

understanding that refusal for testing places their child at risk for undiagnosed heritable conditions.

A copy of this refusal documentation shall be made part of the newborn screening database.”

Informed Consent Informed Consent (Awareness Study)(Awareness Study)

Comparison between Selected Primiparas and Multiparas in the level of Awareness regarding Newborn Screening at Quezon Medical Center, the respondents, Multiparas are aware and the Primiparas were unaware of it (Tolentino, 2008)

Informed Consent Informed Consent (Awareness Study)(Awareness Study)

 Postpartum mothers in private hospitals were aware of newborn screening test

Need to improve communication in promoting newborn screening test in public hospitals

Socio-Economic ContextSocio-Economic Context

600,000 or 30 percent of the two million infants born every year come from poor families. (Galvez-Tan, National Health Institute)

Survey of PaediatriciansSurvey of Paediatricians

Pediatricians support the efforts of Newborn Hearing Screening

Important discrepancies in knowledge of seriousness and consequences of hearing loss  

Deeper awareness of significance of hearing loss and Newborn Hearing Screening required

Consent for Mandatory Consent for Mandatory Screening?!Screening?!

Of those who believed that NBS should be mandatory, paradoxically most (89%) still believed that some form of parental consent should be obtained

Of those who believed testing should not be mandatory, only a small proportion (10%) would accept parental refusal without question

Newborn Screening Newborn Screening Coverage (2001)Coverage (2001)

201 participating hospitals reported in September 2001 confirmed 48 cases of congenital hypothyroidism, 21 cases of congenital adrenal hyperplasia, 2 cases of galactosemia, 4 cases of hyperphenylalanemia and 1,495 cases of glucose-6-phosphate dehydrogenase deficiency

Newborn Screening Newborn Screening Coverage (2010)Coverage (2010)

Newborn Screening Newborn Screening Coverage (2010)Coverage (2010)

Coverage for 2010 marked a 15 year high record of 35.1%. 

More than  2.3 million babies screened as of December 2010

The most prevalent disorder was Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) with a confirmed case detected in every 52 newborns (1:52)

Newborn Screening Newborn Screening Coverage (2010)Coverage (2010)

What next?What next?

Almost 3 million samples that could be used for potentially life saving and life enhancing research

No clear guidelines for use

No valid express informed consent for research

A HUGE WASTE?!

Or a REMARKABLE EXERCISE IN PRUDENCE AND PATIENCE?

What about the politics?!What about the politics?!

Specific ethical concernsSpecific ethical concerns 4. Prior, voluntary, informed, and

expressed consent, without inducement by financial or personal gain, should be obtained for the collection of biological samples … and for their subsequent processing, use, and storage

Q: Can samples be considered as “leftover”

from testing and used without consent provided they are anonymized/unlinked?

Specific ethical concernsSpecific ethical concerns 5. Research

participants should be provided with proper and full but comprehensible information that explains the basics of genetics, the research in its various steps and the benefits or potential benefits to the participants.

 

6. Potential research participants should be adequately informed about what will happen to any genetic material or information obtained as part of the study.

Specific ethical concernsSpecific ethical concerns

9. Informed consent should not be required for those protocols for genetic research that use anonymous samples or samples that have no identifiers.

ASSUMING SAMPLES ARE ANONYMIZED:

WHAT HARM/RISKS SHOULD BE CONSIDERED?

Denisovans in the Denisovans in the Philippines?Philippines?

Now, using state-of-the-art genome analysis methods, … scientists confirmed that Denisovans .… left a genetic footprint …in … Melanesia, … in Australia, the Philippines and elsewhere.

The DenisovansThe Denisovans Discovered from 30,000-year-

old bones and teeth unearthed in the Siberian Denisova cave in 2008.

DNA suggested they shared common origin with Neanderthals,

Nearly as genetically distinct from Neanderthals as Neanderthals were from living people

Denisovans contributed DNA to Australian aborigines, a Philippine "Negrito" group called Mamanwa …

Reich: "The archaeological evidence: … the first people got to Australia and New Guinea incredibly early ….”

"The genetic work now supports that … there were multiple waves of migration to Asia and Oceania, with some quite earlier than others."

A right to know who we A right to know who we are?are?

Where we came from

Our ancestorsWhat we have in common

How we differ

How important is it to know?

More important than the risks in using large databases?

The human genome as The human genome as common heritage of common heritage of

mankindmankind

Won’t this justify the use of genetic samples without need for specific consent? Provided the risks are covered by safety nets Provided ethics committees can perform

monitoring and oversight function Provided the knowledge is shared with everybody Provided research institutions have reasonable

access And the gains are made accessible to all?