Secretary's Advisory Committee Research Articles

An Argument for Reinterpreting the Benign Behavioral Intervention Exemption.

Recent changes to the Common Rule have helped reduce regulatory burden on researchers conducting minimal risk research. However, in this paper, I propose a way of minimizing burden further within the existing confines of the current regulations. I focus my discussion on the newly created "benign behavioral interventions" category of exempt research, arguing that this exemption from the federal regulations governing research with human subjects should be more expansively interpreted by the Secretary's Advisory Committee on Human Research Protections (SACHRP) than is currently the case. Specifically, I argue against the restriction, advocated by SACHRP, that the exemption exclude "physical (bodily) tasks" unless they are "incidental to the behavioral intervention." This restriction, I argue, is problematically vague and does no significant moral work. Acceptance of my proposed reinterpretation of "benign behavioral interventions" would, I hope, result in a significant reduction in regulatory burden for minimal risk research.

Updating Health Literacy for Healthy People 2030: Defining Its Importance for a New Decade in Public Health.

Healthy People 2030, the fifth iteration of the Healthy People initiative, provides science-based national health objectives with targets to improve the health and well-being of Americans. For the first time since its 1979 establishment, the Healthy People framework aims to attain health literacy as an overarching goal and foundational principle to achieving health and well-being. Growing literature on health literacy describes it as a concept not solely reliant on individual capabilities but also on organizations' ability to make health-related information and services equitably accessible and comprehensible. The US Department of Health and Human Services (HHS) updates the Healthy People objectives each decade based on the most current science. For the development of Healthy People 2030, HHS drew on recommendations from the Secretary's Advisory Committee on National Health Promotion and Disease Prevention Objectives for 2030 (Secretary's Advisory Committee), an independent advisory committee of national health experts, to update the 20-year old individual-focused Healthy People definition of health literacy. HHS solicited input from members of the public and users on the proposed changes to that definition. HHS published a Federal Register notice to solicit public comments, which were qualitatively analyzed by government staff. The 2 separate analyses revealed plurality support for improving the definition to focus on both individual and organizational roles in health literacy. Results led HHS subject matter experts to update the definition to include definitions of personal health literacy and organizational health literacy. Healthy People 2030's expanded health literacy definition reflects the most current science and input from the Secretary's Advisory Committee, public comments, and HHS subject matter experts. The updated definition is intended to advance Healthy People 2030's health literacy goals particularly as more organizations in public health and other sectors acknowledge their role in the delivery of quality health information and services.

Addressing Health Equity and Social Determinants of Health Through Healthy People 2030.

The evolution of Healthy People reflects growing awareness of health inequities over the life course. Each decade, the initiative has gained understanding of how the nation can achieve health and well-being. To inform Healthy People 2030's visionary goal of achieving health equity in the coming decade, the Secretary's Advisory Committee on National Health Promotion and Disease Prevention Objectives for 2030 (Secretary's Advisory Committee) provided the US Department of Health and Human Services with guidance on key terms, frameworks, and measurement for health equity. Conditions in the environments in which people are born, live, learn, work, play, worship, and age influence health and well-being outcomes, functioning, and quality-of-life outcomes and risks and are mostly responsible for health inequities. No single individual, organization, community, or sector has sole ownership, accountability, or capacity to sustain the health and well-being of an entire population. The COVID-19 pandemic in the United States highlights underlying inequities and disparities in health and health care across segments of the population. Contributing factors that were known prior to the pandemic have led to major discrepancies in rates of infection and death. To reduce health disparities and advance health equity, systems approaches-designed to shift interconnected aspects of public health problems-are needed.

Let COVID-19 Serve as a Catalyst to Fix National Crisis of Poor Maternal Mortality Data.

Let COVID-19 Serve as a Catalyst to Fix National Crisis of Poor Maternal Mortality Data.

Healthy People: The Role of Law and Policy in the Nation's Public Health Agenda.

Each decade since 1979, the Healthy People initiative establishes the national prevention agenda and provides the foundation for disease prevention and health promotion policies and programs. Law and policy have been included in Healthy People objectives from the start, but not integrated into the overall initiative as well as possible to potentially leverage change to meet Healthy People targets and goals. This article provides background on the Healthy People initiative and its use among various stakeholder groups, describes the work of a project aiming to better integrate law and policy into this initiative, and discusses the development of Healthy People 2030 - the next iteration of health goals for the nation. Lessons from the preliminary stages of developing Healthy People by the HHS Secretary's Advisory Committee (Committee) on National Health Promotion and Disease Prevention Objectives for 2030 and a Federal Interagency Workgroup will be included. Efforts by the Committee focused on the role of law and policy as determinants of health and valuable resources around health equity are also shared. Finally, the article discusses ways that law and policy can potentially be tools to help meet Healthy People targets and to attain national health goals.

Implementing Regulatory Broad Consent Under the Revised Common Rule: Clarifying Key Points and the Need for Evidence.

The revised Common Rule includes a new option for the conduct of secondary research with identifiable data and biospecimens: regulatory broad consent. Motivated by concerns regarding autonomy and trust in the research enterprise, regulators had initially proposed broad consent in a manner that would have rendered it the exclusive approach to secondary research with all biospecimens, regardless of identifiability. Based on public comments from both researchers and patients concerned that this approach would hinder important medical advances, however, regulators decided to largely preserve the status quo approach to secondary research with biospecimens and data. The Final Rule therefore allows such research to proceed without specific informed consent in a number of circumstances, but it also offers regulatory broad consent as a new, optional pathway for secondary research with identifiable data and biospecimens. In this article, we describe the parameters of regulatory broad consent under the new rule, explain why researchers and research institutions are unlikely to utilize it, outline recommendations for regulatory broad consent issued by the Secretary's Advisory Committee on Human Research Protections (SACHRP), and sketch an empirical research agenda for the sorts of questions about regulatory broad consent that remain to be answered as the research community embarks on Final Rule implementation.

Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?

Screening newborns for lysosomal storage disorders (LSDs)7 has gained credence due to the increasing number of therapeutic options available and evidence that early intervention significantly improves outcomes. LSDs are progressive conditions that are typically asymptomatic at birth, potentially making them ideal candidates for newborn screening (NBS). Over the past decade, the development of high-throughput assays with multiplexing capabilities for use with dried blood spot (DBS) samples has facilitated several pilot NBS programs for LSDs worldwide. Such programs have been invaluable in providing knowledge of these disorders, particularly in regards to their true incidence and the overall feasibility of widespread population screening for LSDs. Despite these endeavors, implementation of NBS for LSDs is still debated and there are lingering concerns in some quarters. In the US, the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) is responsible for reviewing evidence and making recommendations for proposed conditions to be added to the Recommended Universal Screening Panel (RUSP). However, each state determines whether or not it will follow the recommendations. Outside the US, the process is less systematic, and regional newborn screening committees determine which disorders should be added to a panel. The original criteria of Wilson and Jungner (WHO; 1968) for population screening should be used wherever possible as a guide. In general, disorders are considered if they meet criteria based on the following: screening should provide clear benefits to the patient; testing capabilities should be in place; and effective treatments should be available. Despite the technical advances achieved in assay development, there are concerns about the appropriateness of NBS for some LSDs on the basis of the interpretation of results, the need for confirmatory testing, availability of effective therapies, and the overall costs involved. At present, the SACHDNC has recommended …

Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs

Tyrosinemia type I (TYR I) is caused by autosomal recessive fumarylacetoacetate hydrolase deficiency and is characterized by development of severe liver disease in infancy and neurologic crises. If left untreated, most patients die of liver failure in the first years of life. Intervention with medication is effective when initiated during the first month of life. This improvement in the treatment of TYR I patients influenced the decision to include TYR I in the US Secretary of the Department of Health and Human Services' (HHS) Recommended Uniform Screening Panel. However, while tyrosine is routinely measured in newborn screening (NBS) by tandem mass spectrometry (MS/MS), elevated tyrosine levels are not specific to TYR I. To improve the specificity of NBS for TYR I, several assays were developed to measure succinylacetone (SUAC) in dried blood spots (DBS). SUAC is a pathognomonic marker of TYR I, and its detection by NBS MS/MS is possible. This review of the current status of NBS for TYR I in the US is the result of discussions at the HHS Secretary's (Discretionary) Advisory Committee on Heritable Disorders in Newborns and Children about the inconsistent implementation of effective NBS for TYR I in the US. We sought to understand the different TYR I screening practices in US NBS programs. Results indicate that 50 out of 51 NBS programs in the US screen for TYR I, and a successful SUAC performance evaluation scheme is available from the Centers for Disease Control and Prevention. Programmatic and methodological barriers were identified that prevent widespread adoption of SUAC measurements in NBS laboratories. However, since SUAC detection is currently the best approach to NBS for TYR I, a further delay of the addition of SUAC measurement into NBS procedures is discouraged. SUAC measurement should improve both the false positive and false negative rate in NBS for TYR I thereby yielding the desired benefits for affected patients at no expense to the overall population served.

The Origin of Fair Information Practices: Archive of the Meetings of the Secretary's Advisory Committee on Automated Personal Data Systems (SACAPDS)

This paper summarizes transcripts of six of the meetings of the Department of Health, Education, and Welfare (HEW) Secretary's Advisory Committee on Automated Personal Data Systems (SACAPDS). This committee developed the landmark 1973 Records, Computers and the Rights of Citizens, Report of the Secretary's Advisory Committee on Automated Personal Data Systems, known as the HEW Report. Privacy expert Robert Gellman has noted that the HEW Report was the origin of Fair Information Practices, a set of principles that formed the basis for modern privacy legislation.The SACAPDS heard from dozens of witnesses, many of whom discussed large-scale government information collection programs that were essential for the delivery of some social good. The witnesses earnestly discussed the ways in which they tried to incorporate confidentiality and data security into these files, but often for sake of administrative efficiency and unique enumeration, these different programs used the Social Security Number (SSN) to track individuals. Some made guarantees of confidentiality without any legal basis for it. Others operated systems with no accountability controls at all. By 1972, committee members lamented that the widespread use of the SSN in the public sector was mirrored in the private marketplace, and that it was practically impossible to function in society without providing the SSN to numerous businesses.Reading the transcripts, it is striking how little conversations about privacy have changed in forty years. Tensions among interests in efficiency, law enforcement, cost, access to knowledge and freedom of information, federalism, the vagueness of the term privacy, eroding practical obscurity of public records, accountability, pragmatic system design, limitations of anonymization and the problem of re-identification, fraud and risk, the incredible complexity in the provision of benefits, the needs of a large and complex administrative state, centralization versus devolved and individual rights appear many times in the committee’s discussion. On June 7, 1972, just before the group’s third meeting, a subcommittee of the group (Dr. Grommers, Layman Allen, Arthur R. Miller, Joseph Weizenbaum, Carole Parsons, and David Martin) circulated a memo titled, Draft Thematic Outline of Report of Secretary's Advisory Committee on Automated Personal Data Systems. The five page memo contained the skeleton of what we call fair information practices today. The last page of the document details, Procedures to protect individuals in relation to the use of automated personal data systems, and concludes with an outline of penalties for infringements of these rights in addition to compensatory and punitive damages for victims.SACAPDS met nine times between 1972-3, often near the NIH campus or at the campus’ Stone House. They had to give their SSN to satisfy the NIH campus security rules. They worked very hard, on weekends and often late into the night. Transcripts, ephemera, and other information about SACAPDS are available in Dr. Willis Ware’s papers archive (1972-1977), maintained by the University of Minnesota. Please note that these transcripts are uncorrected and that when scanned, automated character recognition was used and this OCR is uncorrected.

U.S. supreme court decision paves way for better genetic testing

U.S. supreme court decision paves way for better genetic testing

Decision-making process for conditions nominated to the Recommended Uniform Screening Panel: statement of the US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children

The US Secretary of Health and Human Services provides guidance to state newborn screening programs about which conditions should be included in screening (i.e., the "Recommended Uniform Screening Panel"). This guidance is informed by evidence-based recommendations from the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. This report describes the Advisory Committee's revised decision-making process for considering conditions nominated to the panel. An expert panel meeting was held in April 2012 to revise the decision matrix, which helps to guide the recommendation process. In January 2013, the Advisory Committee voted to adopt the revised decision matrix. The revised decision matrix clarifies the approach to rating magnitude and certainty of the net benefit of screening to the population of screened newborns for nominated conditions, and now includes the consideration of the capability of state newborn screening programs for population-wide implementation by evaluating the feasibility and readiness of states to adopt screening for nominated conditions. The revised decision matrix will bring increased quality, transparency, and consistency to the process of modifying the recommended uniform screening panel and will now allow formal evaluation of the challenges that state newborn screening programs face in adopting screening for new conditions.

Newborn Screening: Education, Consent, and the Residual Blood Spot. The Position of the National Society of Genetic Counselors

Newborn screening (NBS) is a minimally invasive lifesaving test. There is currently no federal mandate for NBS, thus states determine their own screening panel based on the recommendations of the Secretary's Advisory Committee on Heritable Disorders in Newborn and Children (SACHDNC), which was recently re-chartered as the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC). After NBS is completed, a couple of residual blood spots remain. While some states allow these spots to be used for public health and scientific research purposes, parents are not always informed about these additional uses. This paper addresses the National Society of Genetic Counselors' (NSGC's) position about NBS and blood spot storage/use and the rationale for these positions. The National Society of Genetic Counselors strongly supports newborn screening for the uniform screening panel of conditions recommended by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. NSGC also supports storage and use of blood spot samples by newborn screening laboratories and transparent policies that govern these activities.

FDA Oversight of Laboratory-Developed Tests: Is It Necessary, and How Would It Impact Clinical Laboratories?

In 2010 the US Food and Drug Administration (FDA)7 stated that it would issue guidance on its oversight of laboratory-developed tests (LDTs), and in July of that year the FDA held a public meeting to receive feedback on a risk-based application of LDT oversight (http://www.fda.gov/MedicalDevices/NewsEvents/WorkshopsConferences/ucm212830.htm). The FDA acknowledged that LDTs have been in existence since the Medical Device Amendments of 1976 and that historically they had exercised enforcement discretion with respect to oversight. In 2010, however, the FDA stated that the complexity and risk associated with newer LDTs were such that oversight was necessary and that the FDA has “the statutory authority to assure that devices, including LDTs, are safe and effective for their intended use.” Indeed, the FDA notice cites a 2008 report from the Secretary's Advisory Committee on Genetics, Health and Society (SACGHS) that recommended that the FDA address genetic LDTs because of its experience in evaluating laboratory tests. Changes in the LDT environment that have prompted the FDA to consider oversight include the increasing complexity of genetic and other ‘omics testing and the increasing number of diseases that can be diagnosed, monitored, or treated on the basis of LDT results. Because of this state of affairs, the FDA stated that the risk associated with LDTs is far greater today than in the past. Other reasons for oversight include the movement of LDTs from local hospital-based laboratories to national reference laboratories, and the existence of LDTs for analytes that currently have FDA-cleared tests in the marketplace. In addition, the FDA cites a change in business models for providing LDTs, in which corporations, instead of local hospitals and local pathologists, are responsible for providing LDTs for large numbers of patients all over the country. The clinical laboratory industry has expressed concern that FDA oversight of LDTs will be …

Hemoglobin shady grove: A novel fetal methemoglobin variant

Recommendations by the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children aim to increase congenital heart disease screening by pulse oximetry in the nursery. Here, we describe a novel fetal methemoglobin variant discovered in a newborn found to have oxygen saturations significantly below normal upon pulse oximetry screening for congenital heart disease. As universal newborn screening with pulse oximetry is implemented, hereditary variant hemoglobins should be considered in the diagnostic work-up in otherwise well newborns with low SpO2 .

Newborn Screening for Critical Congenital Heart Disease: Potential Roles of Birth Defects Surveillance Programs—United States, 2010–2011

In September 2011, the Secretary of the U.S. Department of Health and Human Services (HHS) approved the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) 2010 recommendation that all newborns be screened for critical congenital heart disease (CCHD) using pulse oximetry, a noninvasive test of blood oxygenation, to prevent mortality and morbidity. CDC partnered with the National Birth Defects Prevention Network (NBDPN) to conduct a survey designed to assess state birth defect surveillance programs' potential roles, capabilities, and readiness to assist with newborn screening activities for CCHD. States were surveyed in November 2010, after the initial SACHDNC recommendation, and again in November 2011, after the Secretary's approval. From 2010 to 2011, the number of birth defects surveillance programs involved in CCHD screening increased from one to 10. Barriers exist, such as the lack of legislative authority, staffing, funding, and informatics infrastructure. Sixty-seven percent of programs take an average of more than 12 months to collect complete data on birth defect cases, including congenital heart defects. An assessment of state birth defects programs' existing data and capability to lead the evaluation of screening for CCHD is warranted.

CDC Recommendations: Good Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders.

On April 6, 2012, the Centers for Disease Control and Prevention (CDC) published recommendations for good laboratory practices that address the quality-management needs of biochemical genetic testing and newborn screening (1). The CDC recommendations were developed on the basis of the recommendations and input of 3 federal advisory committees (the Clinical Laboratory Improvement Advisory Committee; the Secretary's Advisory Committee on Genetics, Health, and Society; and …

New technologies pave way for fetal personalized medicine

New technologies pave way for fetal personalized medicine

The tricky matter of secondary genomic findings

The tricky matter of secondary genomic findings

Interview: An Evolving career in Personalized Medicine: An Interview With Dr Paul Billings

Paul Billings speaks to Tarryn Greenberg, Managing Commissioning Editor Board certified internist and clinical geneticist Dr Paul R Billings serves as Chief Medical Officer of Life Technologies Corporation, a new position aimed at improving patient care through expanding the use of medically relevant genomic technologies in clinical settings. Dr Billings brings extensive expertise and healthcare experience in the areas of genomics and molecular medicine. Most recently, he served as Director and Chief Scientific Officer of the Genomic Medicine Institute at El Camino Hospital (CA, USA), the largest community hospital in the Silicon Valley. He was a member of the US Department of Health and Human Services Secretary's Advisory Committee on Genetics, Health and Society. He currently serves on the Scientific Advisory Board of the US FDA, the Genomic Medicine Advisory Committee at the Department of Veterans Affairs and the IOM Roundtable on Genomics. Dr Billings has had a distinguished career as a physician and researcher. He has been a founder or chief executive officer of companies involved in genetic and diagnostic medicine, including GeneSage, Omicia and CELLective Dx Corporation. Previously, he was Senior Vice President for corporate development at Laboratory Corporation of America Holdings (LabCorp). He has held academic appointments at some of the most prestigious universities in the USA, including Harvard Medical School, UC San Francisco (CA, USA), Stanford University School of Medicine (CA, USA) and UC Berkeley (CA, USA), and has served as a physician at a number of prominent medical centers. He is the author of nearly 200 publications and books on experimental and clinical medicine. His work on genetic discrimination was instrumental in the creation and passage of the federal Genetic Information Non-Discrimination Act of 2008. Dr Billings holds an MD from Harvard Medical School (MA, USA) and a PhD in immunology, also from Harvard University. Dr Billings is a long time Board Member and has previously served as Board Chair, of the Council for Responsible Genetics.

Spending on genetic tests grows

Spending on genetic tests grows