1. Governance of large research and medical databases in research: the Philippines Leonardo D. de Castro Chair Philippine Health Research Ethics Board

2. This Presentation Newborn screening in the Philippines Ethical issues that have arisen Human genome as common heritage Some ethical principles to consider

3. 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

4. Newborn Screening Act of 2004 Republic 9288, entitled, AN ACT PROMULGATING A COMPREHENSIVE POLICY AND A NATIONAL SYSTEM FOR ENSURING NEWBORN SCREENING

5. Promoting Screening NBS a mandatory licensing requirement for all hospitals

6. Screening 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

7. 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.

8. Informed Consent (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)

9. Informed Consent (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

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

11. Survey 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

12. Consent for Mandatory 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

13. Newborn Screening 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

14. Newborn Screening Coverage (2010)

15. 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)

16. Newborn Screening Coverage (2010)

17. 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?

18. What about the politics?!

19. Specific 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?

20. Specific 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.

21. Specific 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?

24. Denisovans in the 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.

25. The 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

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

27. 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."

28. A right to know who we are? Where we came from Our ancestors What we have in common How we differ How important is it to know? More important than the risks in using large databases?

29. The human genome as common heritage of mankind Wont 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?