Esta ley crea y hace obligatorio el Sistema de Monitoreo de Defectos Congénitos de Puerto Rico, adscrito al Departamento de Salud. Establece su creación, mantenimiento y un Comité Asesor. La ley busca recopilar datos sobre la incidencia, prevalencia y tendencias de los defectos congénitos, identificar sus posibles causas, desarrollar estrategias de prevención, y asegurar el acceso temprano a servicios para las personas afectadas. Requiere que las instalaciones de salud, profesionales y laboratorios reporten casos sospechosos o confirmados de defectos congénitos y mantengan registros.
(Approved September 16, 2004)
To create and make mandatory the Puerto Rico Birth Defect Monitoring System, to be attached to the Department of Health; describe its establishment and maintenance; establish its Advisory Committee; and to provide for other related purposes.
The State has various instruments with which to address the social needs or problems of its population; it earmarks fiscal resources, technical personnel and tax incentives, or establishes sanctions for a particular public or social purpose, in the seeking those tools which will better contribute to address the problem as intended.
However, in order for all these government strategies to be effective, the government needs to have, firstly, an appropriate database in order to be able to handle the matter it intends to resolve. That is, it is imperative for statistic and factual information to be within the State's reach, in order for the government to have a complete profile of the matter at hand.
The above applies to the child population with special needs, for whom the government of Puerto Rico has created specialized educational programs, a special coverage within the public health system and many other programs for their benefit.
On a par with the preceding, there are approximately 60,000 live births in Puerto Rico per year. Birth defects are the second cause of child
deaths. In the American nation, around 120,000 to 160,000 infants are afflicted by a major birth defect each year, 6,000 die within their first 28 days, and another 2,000 die before reaching the age of one year. These infants represent $30 %$ of admissions into hospital institutions.
Birth defects contribute to child morbidity and their treatments involve medical and habilitation expenses which are outside the reach of many families. This burden increases much more when factoring in the emotional impact on individuals and families. It has been computed that in the United States, seventeen of all major birth defects represent eight billion dollars a year. Some of the causes for these defects are completely preventable.
The Department of Health of Puerto Rico recognizes that birth defects constitute a serious public health problem. It is very important to assess the presence of these defects in the Island and to observe their trends throughout time. Early identification of one case helps to promote access to early orientation and referrals to available services in the agencies and in the community for the diagnosis, treatment and habilitation of the patient with such a condition. It also helps in terms of the guidance to be provided to the family on future risks related to the likelihood of procreating another child with birth defects. On the other hand, the contribution with the study of the etiology of these defects is an urgent need, for which it is necessary to establish databanks for research. Birth defect monitoring is essential to understanding the causes of the prevailing of these and the manner in which the public health of the Puerto Rican population is affected thereby.
The Department of Health of Puerto Rico has had, since 1995, a Birth Defect Monitoring System. The epidemiologic monitoring of a limited group of defects was being conducted passively (reports were made from
each agency or institution to the Department). The first defects to be reported were neural tube defects: anencephaly, encephalocele and severe spina bifida. As of 1999, the monitoring turned active. That is, nursing professionals were trained to make regular visits to all hospitals in all health regions. This strategy has allowed the Department to identify cases in order to obtain medical record information, develop a database, and promote early access to the health services available to this population. At present, the definition of cases has been broadened to include 13 birth defect categories, which represent 35 birth defect definitions, and the intention is to continue to broaden it further in the future.
The identification of cases with these defects has been affected by the variability of the data available in each agency or institution, due to the fact that the information is not uniform and there are too few health facilities which maintain a registry of the cases affected by a birth defect. The individual commitment of professionals has been a key factor on many occasions for the gathering of information, since the agency does not have the responsibility to document related data. The identification of cases is also affected by the continuous movement of outstanding professionals in agencies.
The purpose of this mandate is the need to require all health facilities, all health care providers, and all hospitals and clinical laboratories and other medical facilities, to make available any information related to cases in which there is the suspicion or a confirmed diagnosis of a birth defect in Puerto Rico.
This mandate of law shall authorize the Department of Health to require a birth defect registry in any agency or health facility and any professional in contact with any of these cases to issue a report thereon to
the Birth Defect Monitoring System and to make it available for review, if necessary. In addition, it shall recognize the current Monitoring System as the Program that shall establish the protocols for the active monitoring of these defects and for the development of data bases that will enable research on their etiology in our population. The development of a well-structured and reliable database is indispensable for the efficient operation and evaluation of the prevention programs aimed to this population and to groups at risk, for the development of a public health policy and the appropriate distribution of resources in the fight to prevent these conditions.
By virtue whereof, the Puerto Rico Birth Defect Monitoring System is hereby created, to be attached to the Department of Health, in order to enable the establishment of strategies and programs for the development of this population, as well as to provide for other related purposes.
Section 1.—Title of the Act.- This Act shall be known and may be cited officially as the "Puerto Rico Birth Defect Monitoring System Act."
Section 2.-Construction and Interpretation of Sections.- The present Act shall be construed and interpreted liberally in all aspects which ensure the accrual of scientific-medical data concerning birth defects in Puerto Rico and the referral to related services.
Section 3.-Definitions.- For purposes of the present Act, the terms stated below shall have the following meanings:
a) Case - means any pregnancy result up to an infant of or under the age of six (6) that has been diagnosed to have a birth defect.
b) Event - any product of a pregnancy, to be understood as a live birth, stillbirth, miscarriage, therapeutic abortion or termination. c) Teratogens - substances that are toxic and affect the embryo and the fetus in its development. d) Pregnancy result - it is defined as any product of a pregnancy, to be understood as live birth, stillbirth, miscarriage, therapeutic abortion, fetal death and termination. e) Department - means the Department of Health of the Commonwealth of Puerto Rico. f) System - refers to the Puerto Rico Birth Defect Monitoring System and to the scientific and systemic gathering of cases in Puerto Rico. g) Birth defect - shall be understood to be that physical abnormality, structural in nature, present in a human embryo, fetus, infant or child of or under the age of six (6), resulting from one or more genetic or environmental causes, or both; these must be present at birth and be manifest and capable of being diagnosed prenatally through diagnostic tests. h) Health Professionals - those professionals or persons whose profession or tasks are related in any way to the preservation of the health of another person and whose performance is supported by certain minimum formal education requirements and a Commonwealth license or certification that credits their capability to perform such tasks. i) Health Services and Diagnostic Facilities - the term includes: general or specialized hospitals; clinics licensed by the Department of Health; public or private Schools of Medicine;
clinical or pathologic laboratories, public agencies or private institutions offering any kind of services to children with birth defects; and any other medical or health institutions or establishments which treats or diagnoses a birth defect, or which receives useful information for the identification of birth defects in the population of Puerto Rico. j) Designated Representative - any person who represents a hospital, agency, clinical laboratory, genetics laboratory or medical facility, designated to maintain the birth defect registry. k) Alpha-fetoprotein - protein produced by the fetus which goes through the placenta and reaches the mother's circulatory system. The levels of this protein in maternal serum are used as a screening test to detect some birth defects.
Section 4.-General Objectives.- It is the intent of this legislation to promote the following objectives: a. To provide information on the incidence, prevalence and trends of birth defects. b. To provide information as to the possible causes of birth defects.
c. To develop prevention strategies to reduce the incidence of birth defects. d. To provide information as to the morbidity and death rates resulting from birth defects. e. To contribute so that persons identified with birth defects may have early access to available services. f. To provide information on geographic, temporal or occupational associations arising from research on exposure to environmental risks and other causes. g. To publish annually the results of research studies for the benefit of public health and make them available to scientists and physicians. h. To maintain a centralized birth defect registry. i. To develop and maintain collaboration agreements with the public agency, private institution and academic sectors that could be involved in providing services to the affected population and in the procedures for gathering, analyzing and disseminating Birth Defect Monitoring System data.
Section 5.-Description of the Establishment and Maintenance of the Puerto Rico Birth Defect Monitoring System.- a. The current Puerto Rico Birth Defect Monitoring System shall be made mandatory, as will be the reporting of birth defects to the Department of Health. b. The Monitoring System shall continue to be attached to the Department of Health, which shall be responsible for assigning the personnel and resources necessary to ensure the building of
a valid, reliable and continuous database on the occurrence of birth defects in Puerto Rico. c. The Department of Health shall draft regulations to define the norms and procedures and address all related matters for the implementation of this Act within a term of 120 calendar days following the date of approval of this Act. These regulations shall be made pursuant to the provisions of Act No. 170 of August 12, 1988, known as the Uniform Administrative Procedures Act. These norms and procedures may include mechanisms to determine the birth defects to be monitored, the scope of the information to be gathered, the administration of data, the appropriate mechanisms for follow-up, referral system, and mechanisms for the revision and evaluation of the activities of the Monitoring System. This procedure shall also facilitate and define collaboration among, medical services and diagnostic facilities, health professionals and the Department of Health or its agents or officials. d. The development of the Regulations mentioned above shall contemplate the publication and distribution of forms, instructions and notifications required by law or necessary to comply with this Act. e. In the exercise of its functions, the Department of Health may adopt, promulgate, amend and repeal, pursuant to the Law, any norm and regulations necessary to meet the purposes of this Act. f. When establishing the Monitoring System under the law, the Department of Health shall require all health care providers and
all health care and diagnostic facilities, as well as other medical facilities, to make available for review the information contained in medical records of patients suspected to have or having a confirmed diagnosis of a birth defect in Puerto Rico. g. The Monitoring System shall cover the entire population of Puerto Rico. h. The System shall use a recognized medical system to specify the birth defects to be included and researched according to their impact on public health. i. All health services or diagnostic facilities shall be under the obligation to notify the Department, within a term of 15 calendar days, each and every occurrence of a birth defect so diagnosed or suspected in any pregnant woman, regardless of the end result, or in a child age six or under. j. Reports on cases to the Birth Defect Monitoring System must be submitted with a minimum of information for the case to be identified afterward by the assigned personnel. The minimum of information required on the report shall be determined by the Department of Health. k. The Department of Health shall require all health services and diagnostic facilities to maintain for a minimum of five (5) years, a register of their patients between the ages of 0 and 6 years, inclusive, diagnosed to have birth defects, and of all women yielding a result of a pregnancy affected by a birth defect. The register shall be made available to the Department of Health if so requested and used solely for the purposes stated in this Act.
p. The Department of Health shall determine and regulate the manner in which the records and other information shall be available for review by designated personnel. q. Likewise, on a date subsequent to the event, the Department of Health may obtain from any health services and diagnostic facility, the records, test results, or related information on cases of birth defects not diagnosed or reported by said health services and diagnostic facility. r. The following persons acting in compliance with this Section may not be prosecuted either civilly or criminally for furnishing required information: i. a hospital, clinical laboratory, genetic treatment center, or other health care facility. ii. a hospital, clinical laboratory, genetic treatment center, or other health care facility administrator, official or employee. iii. a physician or a physician's employee. s. Any person or entity who with malice aforethought and without just cause does not provide the required information to the Birth Defect Monitoring System or who fraudulently uses the information provided to the Birth Defect Monitoring System, may be subject to penalties as established in the regulations for each premeditated act or fraudulent action.
Section 6.—Advisory Committee. - The Birth Defect Monitoring System attached to the Department of Health shall have a scientific advisory committee to assist in the discharge of
the duties contracted by virtue of this Act or accordant with the implementation thereof. a. The Secretary of Health shall be the appointing authority that shall designate the members who shall constitute the advisory committee, b. The Advisory Committee shall be composed of seven persons representing different disciplines, including but not limited to: three specialists in the area of birth defects (physicians, nurses, genetic counselors specialized in: genetics, neonatology, obstetrics and gynecology, pediatrics, and others); two professionals related to public health (epidemiologists, biostatisticians, public health educators, hospital administrators, or others); one member of the community (parent, patient or consumer of related health services); and the coordinator or representative of the Monitoring System.
Section 7.-Confidentiality and Privacy.- All pertinent information gathered and analyzed pursuant to this Act shall be kept confidential in the sense of the identity of the patient, and be used solely for the purposes described in this Act. a. The data obtained directly from a patient's medical record is to be used exclusively by the Department of Health and the public or private entities or persons that the Department determines to be necessary to carry out the intent of this Act. The data is privileged and may not be disclosed or made public in a manner so as to expose to identification any individual whose medical record has been used to obtain data under this Act.
b. The information that may lead to the identification of an individual whose medical record has been used for obtaining data under this Act shall be managed at all times pursuant to applicable Commonwealth and federal regulations. c. The Department of Health may publish report analysis results for scientific or Public Health purposes, ensuring that the identity of individuals is duly protected. d. Any gathered and analyzed information shall be: i. Confidential, where the identity of individuals shall only be used for purposes of the Monitoring System in order to confirm purposes and make referrals. ii. Direct access to the information shall be limited to the Department of Health, its personnel and individuals with a valid scientific interest who are also involved in studies related to health, demographics, epidemiology or others. All personnel and individuals must make a written commitment to maintain confidentiality as indicated, even when they have already concluded their work or research. iii. The Department of Health shall maintain an accurate register of the records of all persons granted access to system information. The register shall include: the name of the person who authorized the access, the name of the user, professional title, organizational affiliation of the person receiving access, date of access, and specific purpose of use. The access register shall be open for public inspection during the working hours of the agency.
iv. Any proposed research to be conducted using system information shall be reviewed and approved by a committee constituted for the protection of human rights which complies with the requirements established by the U. S. Department of Health, pursuant to Part 46 of Title 45 of the Code of Federal Regulations. v. No aspect of this Section shall prohibit the publication of statistics related to birth defects, stillbirths and miscarriages, that have been compiled and which in no manner identifies individual cases or individual information sources.
Any person who violates a written confidentiality agreement, discloses any information under the provisions of this section, or uses information related to this section in any many other than the approved by the committee for the protection of human rights shall be denied future access to confidential information kept by the Department. In addition, said person shall be subject to penalties as established through Regulations, pursuant to this Act. The penalty provided for by this Act shall not restrict any provisional remedy provided by law for the benefit of the Department or any person.
Section 8.—Persons Authorized to Disclose Information and Referrals.- a. The personnel of the Monitoring System may use information to notify parents of available medical care and other services for the benefit of the patient or his/her family and to refer the patient to early intervention services. Any disclosure of
information for other purposes must have the consent of the parent or guardian. b. The same applies to the medical personnel, the Commonwealth agencies and all other public officials who discharge duties provided for in this Act, pursuant to the provisions of the Section on Confidentiality and Privacy of this Act and without overextending themselves as to their functions and obligations. Section 9.—Penalty for Violation of the Act.— Any individual or entity who uses Register information in a manner contrary to that directed by this Act shall be subject to a civil fine imposed by the Department, which shall not exceed one thousand $(1,000)$ dollars nor be of less than three hundred (300) dollars.
Section 10.—Epidemiological Studies and Research.— The Department may use the information gathered to conduct studies under the following parameters: a. Conducting epidemiological or toxicological studies on specific birth defect cases shall be promoted in order to determine the nature and magnitude of the condition or the known or suspected causes and to formulate and evaluate public health control and protection measures. Any person who during the course of research offers to the Department, under this Act and confidentially, any medical, demographic, epidemiological, toxicological or environmental information shall not be suable for damages. b. Department of Health research shall include geographical areas, time of occurrence, occupational association, and research on exposure to environmental factors and other causes.
Section 11.—Severability.- Should any provision of this Act or the application thereof to any person or under any circumstances were to be found invalid, such invalidity shall not impair other provisions or applications of the Act which are enforceable without the provision or application found to be invalid, and for this purpose, the provisions of this Act are separate and independent.
Section 12.—Effectiveness.- This Act shall take effect immediately after its approval.
I hereby certify to the Secretary of State that the following Act No. 351 (H.B. 4082 ) of the $7^{ ext {th }}$ Session of the $14^{ ext {th }}$ Legislature of Puerto Rico:
AN ACT to create and make mandatory the Puerto Rico Birth Defect Monitoring System, to be attached to the Department of Health; describe its establishment and maintenance; establish its Advisory Committee; and to provide for other related purposes, has been translated from Spanish to English and that the English version is correct.
In San Juan, Puerto Rico, today $8^{ ext {th }}$ of May of 2006.
Francisco J. Domenech Director