Chairman Rothstein, and distinguished members of the National Committee on Vital and Health Statistics (NCVHS) Subcommittee on Privacy and Confidentiality, I welcome the opportunity to appear before you to discuss the impact of implementation of the regulation “Standards for Privacy of Individually Identifiable Health Information” (45 CFR parts 160 and 164), promulgated under the Health Insurance Portability and Accountability Act of 1996 (HIPAA Privacy Rule), on certain Public Health activities; specifically, the medical screening of newborns. As Senior Physician and former Medical Director of the New England Newborn Screening Program (NENSP), I am involved in the testing, reporting, and tracking of medical screening results for newborns. The NENSP presently provides state mandated newborn screening testing services for babies born in Rhode Island, New Hampshire, Vermont, Maine and Massachusetts. Annually, approximately 150,000 newborns are currently screened by the NENSP. Additionally, the NENSP provides a comprehensive newborn screening program for babies born in MA which includes: (1) testing, (2) reporting screening results, and (3) tracking that includes short, medium and long-term tracking.
As background, I would like to review some of the current practices and principles of newborn screening. Presently, all newborns in the United States are offered newborn medical screening, though the conditions screened for vary from state to state (Pediatrics. 2000 Aug;106(2 Pt 2):386-8; NNSGRC). Determining disorders that are appropriate candidates for newborn screening requires careful consideration of three fundamental aspects. First, the natural history of the disorder must be such that there is an early, pre-symptomatic or latent phase during which clinical detection of the disorder is not routinely possible, and in which delayed (later) diagnosis adversely affects outcome. Secondly, there must be a high-throughput test available, which is safe, precise, reliable, and sufficiently sensitive to detect the presence of the disorder in the pre-symptomatic phase. Finally, there must be an available intervention that when applied early (as a consequence to screening detection of the disorder), leads to improved outcome for the identified, affected newborn.
Because target disorders are rare and signs of the disorder are not readily apparent during the latent period, newborn screening is necessary and should be universal. That is, the entire newborn cohort should be screened. Ensuring access to testing, diagnostic evaluation, and treatment, has been a public health endeavor and the newborn population presents unique challenges for universal public health initiatives. Newborns face many changes in the first days of life, including: dynamic hormonal and metabolic adjustments to the extra-uterine environment, and multiple medical providers (obstetricians/midwives, neonatologists/pediatricians, and ultimately primary care providers in the medical home). While these changes are occurring, there is a limited window of opportunity for detection of newborn screening target disorders; the growing list of target disorders currently tested for by the NENSP includes many disorders that can have adverse outcomes in the first days to weeks of life if not promptly recognized and treated. Ensuring an efficient mechanism for collecting specimens from all newborns which can be promptly transported to a testing laboratory and assuring communication of laboratory results to the medical home, has required the development of systems for tracking both incoming specimens and outgoing results.
There are several reasons to consider newborn screening a public health mission. One is access to screening (and subsequent testing/interventions); another is the potential benefit to society of early identification and treatment for disorders which if later detected incur high chronic societal (and familial) medical costs. Additionally, when a new epidemic occurs (infectious or genetic, for example), screening may provide an early opportunity to identify the source and extent of the epidemic and possibly provide valuable information which may protect public health. Nonetheless, there are costs to testing and follow-up such that, as a public health program, the potential benefits must be weighed in the context of expected gains. Because only a few diseases fulfill completely the requirements to be considered appropriate for newborn screening, there is judgment and trade-off involved in finalizing the target disorders and screening strategy. Some states have relied on advisory committees to guide policy on newborn screening, and the details of such a process are well documented in MA (2001. Pub Health Reports 116(2): 122-131).
I have been asked to discuss with this committee some of the challenges encountered by Public Health Newborn Screening Programs since implementation of the HIPAA Privacy Rule on April 14, 2003. Generally, perceptions and misconceptions about the impact of the HIPAA Privacy Rule, and not the rule itself, appear to be the primary challenge. Fear of noncompliance with the Privacy Rule has led to instances of “over-compliance”, which can jeopardize the quality of newborn screening, and impede best practices in newborn screening. By incorporating continuous quality improvement standards, and refining screening algorithms, public health screening programs offer opportunities for improving public health and the health of individuals, by allowing timely identification and appropriate intervention for newborns identified early by medical screening.
As additional types of screening testing technology become available, which further the implications of test results for an individual in the context of a larger circle of individuals (hereditary or geographic circles, for example), we should seek to preserve the public health mission with respect for the issues of individual privacy protections. Efforts can be made at this important juncture to develop working models for integration of public health testing within a framework that recognizes issues of individual privacy and makes reasonable efforts to protect individual privacy without jeopardizing public health. To the extent that newborn medical screening can be considered an example of this complex interface, I would like to provide a few examples I have encountered in the past seven months while working at the NENSP, and provide this committee with some of the strategies the NENSP is utilizing to improve the education and understanding about the HIPAA Privacy Rule as it relates to best medical practices for newborn screening:
The most commonly encountered scenarios relate to: (1) verifying that the appropriate medical provider receives out of range results in a timely manner, and (2) obtaining information from the health care provider about diagnostic confirmatory test results, and other types of information which directly relate to the tracking and outcome measures the MA Department of Public Health (DPH) routinely has expected NENSP to collect analyze and report on as part of continuous quality assurance and improvement (105 CMR 270.000).
Some provider offices have responded that they do not want to accept an out of range result, most commonly in the context of providing cross-coverage when the primary care provider (PCP) is not available. With appropriate education of the provider that the out of range screening result could represent the presence of a time critical disorder, it has been possible to involve most providers in making appropriate plans for next steps in evaluation. This issue is possibly related more to the covering health care provider’s lack of familiarity with handling complex screening results associated with rare disorders, and does not seem to specifically relate to privacy protections. The NENSP continues to utilize a medical model for its screening program, employing physicians who are available to give consultative guidance in the interpretation of screening results and recommendations for the next steps in testing and evaluation.
While many health care providers continue to provide the necessary follow-up information, some have questioned whether individual consent is needed. The NENSP, which is part of the University of Massachusetts Medical School, in collaboration with the MA DPH, prepared a memorandum titled: Disclosure of information for public health purposes. The memorandum is provided to health care providers to assist in educating providers about the specific recognition within the HIPPA privacy rules that the rules were not intended to affect public health reporting authorized by law; HIPAA allows a covered entity to disclose protected health information to a public health authority, or its agent, when the public health authority is authorized by law to collect or receive such information (45 CFR 164.512(b); 45 CFR 164.501).
One of the more unusual instances I have encountered following HIPAA implementation, is several specialists (not in the same practice) indicated that without specific written consent, they would not provide written information about whether or not, and/or how a diagnosis had been confirmed or excluded, because it would be in conflict with HIPAA privacy rules; however, the specialists offered to disclose by telephone the relevant personal health information. This inconsistency between written and oral disclosure suggests that providers of medical care can be conflicted about balancing privacy issues and best medical practices.
To date, most providers, with additional education, have complied with public health reporting, though additional NENSP staff, time and energy have been devoted to providing some of these types of education. It is my hope that as health providers and individuals become more educated about the implications of this landmark privacy rule, efficiencies of public health newborn screening can be enhanced.
Thank you for this opportunity to speak with this committee and I look forward to further discussions and questions on these issues.