BILL ANALYSIS Ó AB 170 Page 1 Date of Hearing: April 28, 2015 ASSEMBLY COMMITTEE ON HEALTH Rob Bonta, Chair AB 170 Gatto - As Amended April 21, 2015 SUBJECT: Newborn screening: genetic diseases: blood samples collected. SUMMARY: Requires Department of Public Health (DPH) to provide information about the genetic disease screening tests and obtain a signed informational acknowledgment form for the receipt of information by the parent or guardian of a newborn child regarding the storage, retention, and use of the newborn child's blood sample for medical research. Specifically, this bill: 1)Permits a parent or legal guardian of a minor, or an individual who is at least 18 years of age, to request that DPH destroy the blood sample of the minor collected as a newborn, or not use it for research purposes, or both. 2)Requires DPH to comply with any requests to destroy the blood sample of the minor collected as a newborn, or not use it for research purposes, or both. AB 170 Page 2 3)Requires DPH to prepare and provide informational materials regarding newborn child blood samples collected that include, but are not limited to, all of the following: a) Storage, retention, and use of the blood sample; b) The parent or legal guardian's right to request that his or her minor child's blood sample be destroyed or not used for research purposes, or both, and the information necessary to make that request; and, c) The right of an individual who is at least 18 years of age to request that his or her blood sample be destroyed or not used for research purposes, or both, and the information necessary to make that request. 4)Requires informational materials to be confined to a single page and presented in a separate document from informational materials pertaining to the newborn screening program. 5)Requires the informational materials and the standard informational acceptance form prepared to be distributed as follows: AB 170 Page 3 a) Requires maternity care providers to provide a pregnant woman, prior to the estimated date of delivery, with a copy of the informational materials and a copy of the standard informational acceptance form provided by DPH. b) Requires every perinatal licensed health facility to provide each pregnant woman admitted for delivery with a copy of the informational materials and a copy of the standard informational acceptance form provided by DPH, prior to collection of the blood sample, if that information or standard informational acceptance form was not provided at the perinatal care visit. 6)Requires DPH to provide to a parent or legal guardian a standard informational acceptance form regarding the options for newborn child screening and retention of newborn child blood samples collected. The standard informational acceptance form must include all of the following: a) A brief, plain language explanation of, and the purpose for, the newborn child screening test and retention of newborn child blood samples collected pursuant to this article; b) A description of the benefits of both early newborn child screening and the associated research undertaken regarding preventable heritable or congenital disorders; AB 170 Page 4 c) A description of the California Biobank Program, specifically as it pertains to the Genetic Disease Screening Program, and subsequent storage, retention, and use of the newborn child's blood sample for medical research; d) A space for the parent or legal guardian of the newborn child to acknowledge receipt of informational materials regarding the newborn child screening test, and the storage, retention, and use of the newborn child's blood sample for medical research; and, e) A space for the parent or legal guardian of the newborn child to sign and date the form. 7)Requires a copy of the standard informational acceptance form to be maintained with the newborn child's medical records. 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 AB 170 Page 5 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. 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, and 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 AB 170 Page 6 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. 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 Deoxyribonucleic acid (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 continually 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 AB 170 Page 7 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 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, AB 170 Page 8 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 about one out of every 600 babies tested will have one of these conditions or 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 AB 170 Page 9 newborn screening program data, birth defects data, CBDMP data and other population databases. 3)SUPPORT. The Council for Responsible Genetics (CRG) states in support of the bill that it will assist parents in California in making a truly informed choice about whether the state of California shall permanently retain and use their children's personal genetic information. Before they are even a week old, 98% of the 4.3 million babies born annually in the United States have a small sample of blood taken from their heels. These newborn bloodspots (NBS) are then screened for a variety of inherited conditions and are often later stored in state-operated databases. Newborn screening itself is an important public health program, but while there are concrete benefits of newborn testing there are also troubling consent and privacy issues raised by the storage and use of the samples long after the screening process has concluded. CRG states that with respect to sample storage and use, there is little transparency regarding storage procedures or the use of the samples after they have been screened. CRG argues not only do most parents never realize they have "consented" to storage of their children's biological material, they fail to understand that the actual state government (as opposed to the hospital) is the entity in possession of this sample. CRG argues that several studies have shown that the vast majority of parents want to be actively involved in decision making regarding their children's personal health information, want the choice as to whether the state should maintain their child's sample after screening is completed and most oppose the indefinite storage and use of such samples without consent. Even though parents want informed consent to store and use the samples, many states including California do not have clearly articulated policies about consent for the storage and use of samples, do not effectively communicate these policies to parents and do not offer parents a truly informed choice about whether to participate in storage and subsequent use procedures, including human subject research. CRG further states that the concern of parents that states AB 170 Page 10 retain their children's biological information is heightened because storage procedures and security at these state facilities are arcane and there are laws that truly protect the privacy of genetic information. Californians are enthusiastic about the promise of genetic medicine; but are understandably fearful about how this powerful information can be abused. The sheer amount of genetic data being generated today, and its commercialization, raises serious medical privacy concerns. Many individuals are legitimately concerned that their genetic information will be used against them and are unwilling to participate in medical research or be tested clinically, even when they are at risk for serious disease. CRG concludes that the government has not classified the collection and use of NBS data as research and it's unclear whether the Common Rule, which requires informed consent for human subject research, would apply. This lack of clarity leaves newborn data ripe for misuse. The American Federation of State, County and Municipal Employees (AFSCME), states in support that it provides parents the tools necessary to be fully informed on why and how their child's blood samples are being used by DPH. 4)OPPOSITION. The California Hospital Association (CHA), California Healthcare Institute, Advanced Medical Technology Association, and Biocom write in opposition to a previous version of 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 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 AB 170 Page 11 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 to a previous version of the bill that the current California bloodspot 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 to a previous version of the bill 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 with concerns on a previous version of 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 AB 170 Page 12 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 DPH or the hospital gathering the consent forms. This bill should contain some guidance about how to handle this conflict. 5)CONCERN. The University of California (UC) writes with concerns to a previous version of the bill 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 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 AB 170 Page 13 instead of creating a greater understanding about the benefits of the CNSP and the research it supports. 6)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. Would have required destruction of the genetic information upon completion of the purpose authorization was obtained. SB 1267 was held in the Senate Appropriations Committee. d) AB 395 (Pan), Chapter 461, Statutes of 2011, expands statewide screening of newborns to include screening for severe combined immunodeficiency. AB 170 Page 14 e) 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. f) 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. 7)DOUBLE REFERRAL. This bill has been double referred. It passed the Assembly Committee on Privacy and Consumer Protection with a vote of 9-2 on March 3, 2015 8)COMMITTEE AMENDMENTS. a) Who stores the form? This bill requires the informational acceptance form to be given to a woman at prenatal visits and at the time of delivery. Because of this broad time frame, a child's medical record may not yet exist, and therefore the form would not be able to be stored there as this bill provides. The Committee may recommend amending this bill to provide that the signed informational acceptance form be retained in the mother's medical record. b) Default provisions. This bill does not indicate what AB 170 Page 15 happens in the event that there is no signed informational acceptance form. Because care providers are now required to retain a signature on documents, it could lead to confusion on what happens when a form is not present. The Committee may recommend amending this bill to make it clear that in the event that there is not a signed informational acceptance form on file, the care provider is directed to submit the NBS sample for storage and research. c) Technical/clarifying amendments. i) Regarding the process for parents to opt-out of a newborn screening test if they wish to do so, current statute reads as follows: "(d) This section shall not apply if a parent or guardian of the newborn child objects to a test on the ground that the test conflicts with his or her religious beliefs or practices." Amendments submitted by the author sought to keep the language regarding the process for the NBS test exactly the same. Some changes were inadvertently made during the drafting process, and the Committee may recommend amendments that will reinstate this language and maintain exactly what is currently in statute regarding the newborn genetic disease screening test process. AB 170 Page 16 ii) Section 2 (c) of this bill requires DPH to provide to a parent or legal guardian a standard informational acceptance form regarding the options for newborn child screening and retention of newborn child blood samples collected. The informational acceptance form is intended to apply only to the storage of child blood samples that are collected, and is not intended to be a part of the newborn screening test procedures. The Committee may recommend clarifying and conforming amendment language as follows: Page 6, line 36-37: "(c) The department shall provide to a parent or legal guardian the standard informational acceptance form provided in Section 125004 regarding theoptions for newborn child screening andretention of newborn child blood samples collected pursuant to this article." Page 8, line 11 - "(4) A space for the parent or legal guardian of the newborn child to acknowledge receipt of informational materials regarding thenewborn child screening test, and thestorage, retention, and use of the newborn child's blood sample for medical research." REGISTERED SUPPORT / OPPOSITION: Support AB 170 Page 17 American Federation of State, County and Municipal Employees Council for Responsible Genetics Opposition Advanced Medical Technology Association (prior version) American Academy of Pediatrics, California (prior version) Biocom (prior version) California Children's Hospital Association (prior version) California Healthcare Institute (prior version) California Hospital Association March of Dimes California Chapter University of Southern California (prior version) Analysis Prepared by:Paula Villescaz / HEALTH / (916) 319-2097