BILL ANALYSIS Ó AB 170 Page 1 Date of Hearing: April 14, 2015 ASSEMBLY COMMITTEE ON HEALTH Rob Bonta, Chair AB 170 (Gatto) - As Amended March 25, 2015 SUBJECT: Newborn screening: genetic diseases: blood samples collected SUMMARY: Prohibits the Department of Public Health (DPH) from testing a newborn child and retaining a blood sample for medical research unless the parent or guardian provides informed consent, as specified. Specifically, this bill: 1)Prohibits DPH from testing a newborn child unless the parent or guardian provides informed consent, as specified. 2)Prohibits DPH from storing, retaining, or using for medical research a blood sample collected unless the parent or guardian provides informed consent, as specified. 3)Authorizes a parent or guardian of a minor child and the newborn child, once he or she is at least 18 years of age, to request that DPH destroy or not use for research purposes, or both, the blood sample. AB 170 Page 2 4)Requires DPH to destroy blood samples if an individual that has reached at least 18 years of age, or a parent or guardian of a minor child, requests DPH to do so. 5)Requires DPH to prepare and provide informational materials regarding the newborn child blood samples collected that includes, but is not limited to, information on storage, retention, and use of the blood sample, and the right of specified persons to request that the blood sample be destroyed or not used for research purposes, or both. 6)Requires DPH to prepare and provide a standard informed consent form, to be distributed as specified, that includes an explanation of the newborn child screening test and a space for the parent or legal guardian of the newborn child to indicate his or her consent to the storage, retention, and use of the blood sample for medical research. EXISTING LAW: 1)Requires DPH to establish a genetic disease unit to coordinate all DPH programs in the area of genetic disease that will promote a statewide program of information, testing, and counseling services and to have the responsibility of designating tests and regulations to be used in executing this program and to have the responsibility of designating tests and regulations to be used in executing the California Newborn Screening Program (CNSP). 2)Requires DPH to provide genetic screening and follow-up services. Allows DPH to provide laboratory (lab) testing facilities or work with qualified outside labs to conduct testing. AB 170 Page 3 3)Requires DPH to charge a fee for newborn screening and follow-up services, and requires the amount of the fee to be periodically adjusted in order to meet the costs of CNSP. 4)Requires DPH to evaluate and prepare recommendations on the implementation of tests for the detection of hereditary and congenital diseases, including, but not limited to, biotinidase deficiency and cystic fibrosis. Requires DPH to also evaluate and prepare recommendations on the availability and effectiveness of preventative follow-up interventions, including the use of specialized medically necessary dietary products. 5)Requires statewide screening of newborns to include tandem mass spectrometry screening for fatty acid oxidation, amino acid, and organic acid disorders and congenital adrenal hyperplasia. Also requires screening of newborns to include screening for severe combined immunodeficiency, as soon as possible. FISCAL EFFECT: This bill has not yet been analyzed by a fiscal committee. COMMENTS: 1)PURPOSE OF THIS BILL. According to the author, newborn screening is one of the great public health success stories in this country, but what happens to the samples after the screening process is completed raises serious and troubling questions of consent and privacy. In the case of California and a handful of other states, these samples are indefinitely stored in state repositories and made available to researchers for a fee. The author states that most parents are poorly informed, if at all, about the storage and medical research of these samples. AB 170 Page 4 The author argues that parents are assumed to have consented to long-term storage and third-party use of their child's biological sample unless they explicitly refuse in writing. California must revise its approach to long-term storage and use of newborn DNA samples, and include parents in the decision-making process. It is imperative for both the health of this program and Californians' continued trust in their government that parents be fully informed of the Biobank program and the intended future use of their child's DNA. The author concludes that this bill will ensure that parents have the right to protect their children's genetic privacy. Parents, understandably, want to be actively involved in decision-making regarding their children's personal health information. That choice is currently being denied. 2)BACKGROUND. In 1966 California began its CNSP with the testing of phenylketonuria. Since its creation, the CNSP has been expanded several times as new discoveries are made and tests developed and now screens for more than 70 disorders. Diseases have been added through regulation and legislation. a) CNSP. Prior to leaving the hospital, a few drops of blood from the newborn's heel are collected on filter paper. The newborn screening test should be done when the baby is at least 12 hours of age but before six days of age. The ideal time to do the test is when the baby is between 24 and 48 hours of age. Blood collected before 12 hours of age is not always reliable for some metabolic diseases. The sample is sent to one of eight regional labs that contract with the DPH for testing. The results are sent to DPH for data collection and quality control. Parents obtain the test results from the baby's doctor or clinic. It takes about two weeks for the doctor to receive the written results. If the baby needs more tests, parents get a letter or a phone call a few days after discharge from the hospital. Positive test results are immediately telephoned to a follow-up coordinator at one of the Newborn Screening Area Service Centers throughout the State. The AB 170 Page 5 coordinator contacts the newborn's physician to arrange for repeat testing. If repeat testing determines that the baby has a disorder, the coordinator will supply the latest clinical information on diagnosis and treatment and assist with referrals to special care. In 2009-10, approximately 520,000 newborns were screened for 75 genetic disorders. Approximately 9,200 or under 2% were classified as positive or questionable and were referred for follow-up testing or services. Disorders screened for by the CNSP have varying degrees of severity. If identified early many of these conditions can be treated before they cause serious health problems. Treatments may include medication, dietary supplements, avoidance of fasting and/or special diet and comprehensive care to reduce morbidity and mortality. This test screens for specific diseases in the following groups: i) Metabolic: chemical reactions in the body to create energy and build tissue; ii) Endocrine: hormones that affect body functions; iii) Hemoglobin: red blood cells that carry oxygen; iv) Other Genetic Diseases; v) Cystic Fibrosis; and, vi) Severe Combined Immunodeficiency. CNSP disorders cause delays in development, neurological damage, dehydration, incorrect sex assignment, mental retardation, and death if not treated at an early newborn age. In California AB 170 Page 6 about one out of every 600 babies tested will have one of these diseases. Current regulations permit a parent to decline the test. A parent must then sign a special form that states that not having the test done can result in serious illness or permanent damage to their child. It also states that the parent must accept responsibility should this occur. b) California BioBank. DPH maintains a large and diverse biobank, the California Biobank Program, which houses over 17.5 million prenatal serum samples and newborn leftover blood spots. These samples were collected for testing by the Prenatal and Screening Program and CNSP that are administered by the Genetic Disease Screening Program (GDSP) and are linked to GDSP data and California Birth Defects Monitoring Program (CBDMP) registry data. The samples and data are also linked to the State Registrar of Vital Statistics databases that include fetal death, live birth and death data. The California Biobank Program (CBP) is an internationally recognized public health asset because of its large size and culturally, geographically and genetically diverse population. The CBP is unique in that no other state or international effort approaches its scale in terms of the number and quality of specimens collected and preserved annually, the number of historic specimens, and existing linkage with statewide prenatal and newborn screening program data, birth defects data, CBDMP data and other population databases. 3)OPPOSITION. The California Hospital Association (CHA), California Healthcare Institute, Advanced Medical Technology Association, and Biocom write in opposition to the bill that the net result of this bill would be to decrease the number of newborns tested for these devastating disorders which can be AB 170 Page 7 prevented or ameliorated if detected. Opponents write that the mothers who are most likely to decline the testing are those without insurance or with high deductibles, and mothers who are inordinately suspicious of government while other mothers might decline testing due to their lack of understanding of science and medicine. CHA further states that this bill would also increase the administrative burdens on hospitals, physicians, and new mothers which, in turn, will increase health care costs. Finally, according to the opposition, this bill bill would increase the legal liability on hospitals and physicians; if a mom opts out of testing her baby, and her baby has one of these devastating disorders which could have been detected, she will likely sue physician and/or hospital. The University of Southern California states in opposition that the current California blood spot database serves as an important resource to assist in the early identification of these rare diseases. California's database is internationally recognized as a critical public health asset and allows for the study of these rare diseases among its diverse communities. The American Academy of Pediatrics, California and March of Dimes California Chapter (March of Dimes) writes in opposition that they oppose any amendments that would link consent for storage and research of newborn screening blood spots with the initial collection and testing of the blood spots. March of Dimes recognizes both the value of newborn screening blood spots for research use by the scientific community and the importance of appropriate parental involvement in decisions regarding storage and use of post-screening blood spots. However, the March of Dimes overriding interest is to safeguard the benefit to newborns of early detection of conditions that seriously threaten their lives or health and the initiation of treatment that is made possible by timely newborn screening. The California Children's Hospital Association (CCHA) writes AB 170 Page 8 with concerns about this bill, stating that the current California blood spot database is an internationally recognized public health asset because of its size and diversity. The ability to study rare diseases, diseases contained to small geographical areas or to small subsets of California's genetically diverse population, as well as the ability to link clinical and environmental data (such as pesticides), would not be possible without California's blood spot database. Implementing an informed consent policy will require significant financial resources to address education of families, training for health care providers in distributing and explaining the consent forms, logistics and follow-up (e.g. destruction of blood spots). Given that the federal Common Rule must be finalized by the end of 2016 and will then govern these processes for the majority of research in California, it would be best to ensure that state law is congruent with federal policy. Currently, this bill would move ahead with changes to state law that could be in conflict with the final version of the federal regulations. CCHA concludes that under the legislation as written, parents could receive the consent form twice or more, with the potential for them to change their decision in between. This could lead to confusion at CDPH or the hospital gathering the consent forms. This bill should contain some guidance about how to handle this conflict. 4)CONCERN. The University of California (UC) writes with concerns that this measure could significantly limit the availability of the valuable data and biosamples collected by the CNSP for research use. One of the greatest values of California's current process for collecting and storing newborn dried blood samples comes from its size and diversity. The samples stored by DPH reflect California's diverse population and allows us to research how different diseases affect different ethnicities. The sheer number of samples makes research into rare diseases possible, and also facilitates robust studies of regional environmental factors that can cause disease. This bill's revised process for AB 170 Page 9 research use of newborn dried blood samples is likely to severely limit the number of samples that may be collected which in turn, would greatly diminish the research value of the current newborn dried blood samples stored by DPH. The UC indicates concern that the bill's research terminology is inconsistent with the Federal Policy for the Protection of Human Subjects, or the "Common Rule." The common rule is utilized by all Human Subject Protection Programs for federally-funded research. The UC worries that the revised consent process under this bill may confuse new parents instead of creating a greater understanding about the benefits of the NSP and the research it supports. 5)PREVIOUS LEGISLATION. a) AB 1559 (Pan), Chapter 565, Statutes of 2014, expands DPH statewide screening of newborns to include screening for adrenoleukodystrophy (ALD) as soon the federal Recommended Uniform Screening Panel approved the addition of ALD. b) SB 222 (Padilla) of 2014 would have enacted the Genetic Information Privacy Act, which would have required an individual's written authorization prior to the collection of genetic information for testing, analysis, retention or disclosure. SB 222 was held in the Senate Appropriations Committee. c) SB 1267 (Padilla) of 2012 would have required an individual's written authorization prior to the collection of genetic information for testing, analysis, retention or disclosure. The bill would have required destruction of the genetic information upon completion of the purpose AB 170 Page 10 authorization was obtained. SB 1267 was held in the Senate Appropriations Committee. d) SB 1731 (Block), Chapter 336, Statutes of 2012, established the Newborn Critical Congenital Heart Disease (CCHD) Screening Program and required hospitals, beginning July 1, 2013, to offer a pulse oximetry test for the identification of CCHD to parents of newborns prior to discharge. e) AB 395 (Pan), Chapter 461, Statutes of 2011, expands statewide screening of newborns to include screening for severe combined immunodeficiency. f) SB 1103 (Committee on Budget and Fiscal Review), Chapter 228, Statutes of 2004, expands statewide screening of newborns to include tandem mass spectrometry screening for fatty acid oxidation, amino acid, organic acid disorders, and congenital adrenal hyperplasia. g) AB 442 (Committee on Budget), Chapter 1161, Statutes of 2002, requires hospitals to collect fees associated with any tests conducted under CNSP. h) SB 537 (Greene), Chapter 1011, Statutes of 1998, required DPH to establish a program to provide extended newborn genetic screening services for persons who elect to have, and pay for, the additional screening. 6)COMMITTEE AMENDMENTS. The CNSP program is crucial to AB 170 Page 11 protecting each newborn from identifiable and preventable diseases. Approximately 10,000 newborn screenings per year are classified as positive or questionable and are referred for follow-up testing or services. Potentially saving the lives of 10,000 babies outweighs any privacy protections that parents may lay claim to. For this reason, the Committee suggests amendments that remove any opt-in requirements to have a newborn screened at birth. On page 3, strike lines 29-34, and replace it with: (d) This section shall not apply if a parent or guardian of the newborn child objects to a test. The Committee is sympathetic towards the many concerns raised by the opposition and scientific community regarding opt-in requirements to have dried blood spot samples stored and used for research. Because the potential impacts on research are uncertain, the Committee may wish to make an amendment that would sunset these provisions of this bill. On page 5, line 19 add: (k) Section 125000 (d) (2) shall be repealed on January 1, 2022. On page 7, line 32 add: (e) Section 125004 (a) (4) and (6) (b) shall be repealed on January 1, 2022. REGISTERED SUPPORT / OPPOSITION: AB 170 Page 12 Support American Federation of State, County and Municipal Employees Opposition Advanced Medical Technology Association American Academy of Pediatrics, California Biocom California Children's Hospital Association California Healthcare Institute California Hospital Association March of Dimes California Chapter University of Southern California Analysis Prepared by:Paula Villescaz / HEALTH / (916) 319-2097