United States: The Newborn Screening Saves Lives Reauthorization Act: Implications For Human Subjects Research

On March 16, 2015, the Newborn Screening Saves Lives Reauthorization Act of 2014 went into effect.  The Act reauthorizes funding to improve and expand state-based programs that screen newborns for treatable, serious genetic disorders; educate providers and parents about newborn screening; and develop screening standards and surveillance efforts.  The 2008 version of the Act originally established national newborn screening guidelines and support for comprehensive state screening efforts.

More notably, the Act added a new provision addressing research uses of newborn dried blood spots (NDBS).  Specifically, the Act includes a new amendment that creates a special regulatory designation of NDBS under 45 C.F.R. 46, the Federal Policy for the Protection of Human Subjects (often referred to as the Common Rule) and places restrictions on Institutional Review Board (IRB) authority regarding research involving NDBS.  This amendment creates uncertainty regarding the proper regulation and oversight of minimal risk research involving NDBS under the Common Rule, and may affect the feasibility of future population-wide NDBS research.

Background on the Act

The main function of the Act is to reauthorize almost $20 million to support state-run newborn screening programs through 2019.  States screen newborns for serious genetic disorders, most of which are not phenotypically apparent immediately at birth.  Although there is wide state-to-state variation in screening programs, newborn screening is mandatory in 48 states (meaning parental permission is not required), and almost 98 percent of all newborns are screened.  The past decade has seen the number of conditions on most state panels increase.  The Secretary of the Department of Health and Human Services' (HHS's) Advisory Committee on Heritable Disorders in Newborn Children currently recommends that states screen newborns for 31 core disorders and 26 secondary disorders.

Shortly after birth, a small sample of blood is collected from the newborn via a heel prick and placed onto a filter-paper-based Guthrie card, which is specifically designed for this type of collection.  To ensure that there is enough for testing, physicians take more blood than is needed.  In addition to the sample, the card contains information about the newborn's parents and physician.  The Guthrie card typically is sent to a state laboratory for analysis, and usually a physician receives the results of the analysis within two weeks.

In most states, the cards are retained and stored in case retesting is clinically required, and/or for quality assurance and forensic purposes.  About 43 states permit parents to opt-out of screening for religious or philosophical reasons.  Some states permit parents to opt-out of the release of samples for secondary uses of NDBS, or do not allow any secondary uses at all.  Before residual NDBS are given to researchers in those states where this is permitted, the filter paper containing the residual sample is separated from the Guthrie card that contains identifying information.  The residual sample is annotated with de-identified information and often is assigned a dummy identification number so that a linking code can be created that crosswalks between the de-identified sample and the Guthrie card.

New Requirements for Research Involving NDBS

The Act expressly categorizes research involving de-identified NDBS as research involving human subjects under the Common Rule.  Traditionally, under the Common Rule, research with biological specimens that are not linked to other identifying information is not considered "human subjects" research, because a human subject is either an individual with whom the research team interacts or intervenes, or about whom the research team obtains identifiable information.  45 C.F.R. 46.102(d).  Because state-run NDBS samples were provided to researchers without any identifiable information, research involving such NDBS had not met the definition of research involving human subjects under the Common Rule, and therefore traditionally had fallen outside of Common Rule jurisdiction.  As a result of the Act's re-categorization, federally funded research activities involving NDBS will now be considered human subjects research regardless of whether the NDBS are linked to identifiable information, and will be subject to the Common Rule, including IRB review and oversight.

In addition to changing the Common Rule's applicability, the Act eliminates an IRB's ability to alter or waive certain informed consent requirements under 45 C.F.R. 46.116(c) and 116(d) for NDBS research.  IRBs typically can grant waivers of informed consent requirements when the human subjects research involves no more than minimal risk to the subject and would not otherwise be able to occur without the waiver.  This new provision prohibits an IRB from waiving or altering any required element of informed consent for research involving NDBS.  In practice, it would likely be difficult for researchers to obtain meaningful informed consent for research on these residual clinical specimens unless consent was obtained at the time the newborn sample was taken and an IRB felt that such upfront, future unspecified consent was voluntary, meaningful and informed.  The feasibility of such upfront consent programs for downstream research involving NDBS also remains unclear.  Institutions likely lack the type of infrastructure that would be required to make such an upfront process work in a systematic and ethical manner.

Importantly, the changes and requirements in the Act's amendment are only applicable to certain entities in certain situations.  First, these changes only apply to research funded by HHS.  Thus, non-research activities (such as treatment-related and public health state screening programs) and non-HHS-funded research (such as state-funded population studies or privately funded studies) would not be affected by these changes.  Second, these requirements only apply to NDBS collected on or after March 16, 2015, that are subsequently used in HHS-funded research.  The HHS Office for Human Research Protections (OHRP), which enforces the Common Rule, also clarified that institutions that have made a 4(b) election on their Federalwide Assurance application, agreeing that the Common Rule will govern all human subjects research regardless of funding source, are nonetheless not expected to apply this law to non-HHS-funded research.

The Act directs the Secretary of HHS to promulgate proposed regulations by mid-June 2015 to update the Common Rule's informed consent and other requirements related to NDBS research, with final regulations required by December 2016.  OHRP has noted that the Act's research amendment "requir[es] immediate new interpretations of the HHS regulations for the protections of human subjects."  To that end, the HHS Secretary's Advisory Committee on Human Research Protections (SACHRP) addressed this topic during its triennial meeting on March 24–25, 2015, and released a set of recommendations that should guide researchers and institutions pending OHRP's issuance of regulatory amendments to the Common Rule.

These recommendations first reviewed the history of IRB oversight and newborn screening, and also pointed to the inconsistencies that the Act creates with respect to the definition of a human subject under the Common Rule and the scope of appropriate IRB action with respect to waiver of consent.  SACHRP expressed concern that IRB and institutional interpretations of the new law's scope would be overly broad, potentially resulting in IRB reluctance to waive consent requirements in other situations.  Against this backdrop, SACHRP framed its guidance-development approach as an assessment of what the Act now requires, what the Act now prohibits, and what options may remain in the interstices between the Act's express prohibitions and permissions.  These recommendations focused on three main inquiries:

  • Research: SACHRP recommended that OHRP guidance reinforce the fact that numerous activities involving residual NDBS, such as program evaluations and public health practices, are not research and would not be affected by the Act, because the Act did not change or expand the scope or definition of research under the Common Rule.  If an activity is not "a systematic investigation . . . designed to develop or contribute to generalizable knowledge," then the activity in question is not research and does not require IRB review and approval, even if it is HHS-funded.
  • Funding: SACHRP recommended that OHRP continue to emphasize that non-HHS-funded research activities—even when undertaken by institutions that have made a 4(b) election on their Federalwide Assurance application—involving NDBS are not subject to the Act's restrictions.
  • Limits on IRB Review: SACHRP noted that while the Act expressly prohibits an IRB from altering or waiving informed consent requirements under the Common Rule, it does not address or prohibit the application of expedited or exempt categories or other consent-related options by the IRB in its review of NDBS research.  Thus, SACHRP recommended that OHRP's guidance emphasize that IRBs may use expedited review categories to review HHS-funded research with NDBS.  For example, as most NDBS are originally collected for non-research purposes, the Common Rule may allow for an IRB to expedite review of minimal risk research involving such residual NDBS on this basis.  45 C.F.R. 46.110.  SACHRP also recommended that forthcoming OHRP guidance emphasize the ability of IRBs to grant waivers of documentation of informed consent under 45 C.F.R. 46.117(c)(2) (as opposed to a waiver of the informed consent requirement entirely).  SACHRP noted that these waivers would allow for a "simplified consent process that can be more easily implemented" in settings that may not be familiar with, or amenable to the implementation of, the traditional requirements of research and consent documentation, which may allow researchers to obtain parental signatures on the Guthrie card itself to document consent and to provide all of the required written consent materials to parents separately.  SACHRP also recommended that OHRP emphasize that a broad or "blanket" consent form for future unspecified use for NDBS research is appropriate under the Common Rule, as the sample is taken for a non-research purpose and there is minimal foreseeable risk from future research uses.  Finally, SACHRP suggested that, theoretically, NDBS research may be exempt from informed consent requirements under 45 C.F.R. 46.101(b)(4), which exempts research with de-identified data.  SACHRP advised caution for IRBs applying this exemption, however, "[g]iven the law's deliberate elimination of waivers or alteration of informed consent."

Even though the Act appears to have a significant impact for researchers and institutions that work with, or use data collected via, NDBS, SACHRP's recommendations and the forthcoming OHRP regulations and guidance may soften the impact of the Act's changes on research involving newborn blood spots.  It is also unclear how the Act's changes might be affected by broad changes to the Common Rule, if a Final Rule amending the Common Rule is ultimately issued.  Perhaps more significant than the specific amendments proposed by the Act is the Act's potential broader implications for research involving residual clinical specimens.  It remains to be seen whether de-identification will remain one of the lodestars by which a human subject is discerned.

In the meantime, institutions that incorporate NDBS into federally funded research may want to consider approaches to upfront future consent and to amending their policies, procedures and biobank protocols to account for these potential new requirements.

The Newborn Screening Saves Lives Reauthorization Act: Implications For Human Subjects Research

The content of this article is intended to provide a general guide to the subject matter. Specialist advice should be sought about your specific circumstances.

To print this article, all you need is to be registered on Mondaq.com.

Click to Login as an existing user or Register so you can print this article.

Similar Articles
Relevancy Powered by MondaqAI
Sheppard Mullin Richter & Hampton
In association with
Related Topics
Similar Articles
Relevancy Powered by MondaqAI
Sheppard Mullin Richter & Hampton
Related Articles
Related Video
Up-coming Events Search
Font Size:
Mondaq on Twitter
Register for Access and our Free Biweekly Alert for
This service is completely free. Access 250,000 archived articles from 100+ countries and get a personalised email twice a week covering developments (and yes, our lawyers like to think you’ve read our Disclaimer).
Email Address
Company Name
Confirm Password
Mondaq Topics -- Select your Interests
 Law Performance
 Law Practice
 Media & IT
 Real Estate
 Wealth Mgt
Asia Pacific
European Union
Latin America
Middle East
United States
Worldwide Updates
Registration (you must scroll down to set your data preferences)

Mondaq Ltd requires you to register and provide information that personally identifies you, including your content preferences, for three primary purposes (full details of Mondaq’s use of your personal data can be found in our Privacy and Cookies Notice):

  • To allow you to personalize the Mondaq websites you are visiting to show content ("Content") relevant to your interests.
  • To enable features such as password reminder, news alerts, email a colleague, and linking from Mondaq (and its affiliate sites) to your website.
  • To produce demographic feedback for our content providers ("Contributors") who contribute Content for free for your use.

Mondaq hopes that our registered users will support us in maintaining our free to view business model by consenting to our use of your personal data as described below.

Mondaq has a "free to view" business model. Our services are paid for by Contributors in exchange for Mondaq providing them with access to information about who accesses their content. Once personal data is transferred to our Contributors they become a data controller of this personal data. They use it to measure the response that their articles are receiving, as a form of market research. They may also use it to provide Mondaq users with information about their products and services.

Details of each Contributor to which your personal data will be transferred is clearly stated within the Content that you access. For full details of how this Contributor will use your personal data, you should review the Contributor’s own Privacy Notice.

Please indicate your preference below:

Yes, I am happy to support Mondaq in maintaining its free to view business model by agreeing to allow Mondaq to share my personal data with Contributors whose Content I access
No, I do not want Mondaq to share my personal data with Contributors

Also please let us know whether you are happy to receive communications promoting products and services offered by Mondaq:

Yes, I am happy to received promotional communications from Mondaq
No, please do not send me promotional communications from Mondaq
Terms & Conditions

Mondaq.com (the Website) is owned and managed by Mondaq Ltd (Mondaq). Mondaq grants you a non-exclusive, revocable licence to access the Website and associated services, such as the Mondaq News Alerts (Services), subject to and in consideration of your compliance with the following terms and conditions of use (Terms). Your use of the Website and/or Services constitutes your agreement to the Terms. Mondaq may terminate your use of the Website and Services if you are in breach of these Terms or if Mondaq decides to terminate the licence granted hereunder for any reason whatsoever.

Use of www.mondaq.com

To Use Mondaq.com you must be: eighteen (18) years old or over; legally capable of entering into binding contracts; and not in any way prohibited by the applicable law to enter into these Terms in the jurisdiction which you are currently located.

You may use the Website as an unregistered user, however, you are required to register as a user if you wish to read the full text of the Content or to receive the Services.

You may not modify, publish, transmit, transfer or sell, reproduce, create derivative works from, distribute, perform, link, display, or in any way exploit any of the Content, in whole or in part, except as expressly permitted in these Terms or with the prior written consent of Mondaq. You may not use electronic or other means to extract details or information from the Content. Nor shall you extract information about users or Contributors in order to offer them any services or products.

In your use of the Website and/or Services you shall: comply with all applicable laws, regulations, directives and legislations which apply to your Use of the Website and/or Services in whatever country you are physically located including without limitation any and all consumer law, export control laws and regulations; provide to us true, correct and accurate information and promptly inform us in the event that any information that you have provided to us changes or becomes inaccurate; notify Mondaq immediately of any circumstances where you have reason to believe that any Intellectual Property Rights or any other rights of any third party may have been infringed; co-operate with reasonable security or other checks or requests for information made by Mondaq from time to time; and at all times be fully liable for the breach of any of these Terms by a third party using your login details to access the Website and/or Services

however, you shall not: do anything likely to impair, interfere with or damage or cause harm or distress to any persons, or the network; do anything that will infringe any Intellectual Property Rights or other rights of Mondaq or any third party; or use the Website, Services and/or Content otherwise than in accordance with these Terms; use any trade marks or service marks of Mondaq or the Contributors, or do anything which may be seen to take unfair advantage of the reputation and goodwill of Mondaq or the Contributors, or the Website, Services and/or Content.

Mondaq reserves the right, in its sole discretion, to take any action that it deems necessary and appropriate in the event it considers that there is a breach or threatened breach of the Terms.

Mondaq’s Rights and Obligations

Unless otherwise expressly set out to the contrary, nothing in these Terms shall serve to transfer from Mondaq to you, any Intellectual Property Rights owned by and/or licensed to Mondaq and all rights, title and interest in and to such Intellectual Property Rights will remain exclusively with Mondaq and/or its licensors.

Mondaq shall use its reasonable endeavours to make the Website and Services available to you at all times, but we cannot guarantee an uninterrupted and fault free service.

Mondaq reserves the right to make changes to the services and/or the Website or part thereof, from time to time, and we may add, remove, modify and/or vary any elements of features and functionalities of the Website or the services.

Mondaq also reserves the right from time to time to monitor your Use of the Website and/or services.


The Content is general information only. It is not intended to constitute legal advice or seek to be the complete and comprehensive statement of the law, nor is it intended to address your specific requirements or provide advice on which reliance should be placed. Mondaq and/or its Contributors and other suppliers make no representations about the suitability of the information contained in the Content for any purpose. All Content provided "as is" without warranty of any kind. Mondaq and/or its Contributors and other suppliers hereby exclude and disclaim all representations, warranties or guarantees with regard to the Content, including all implied warranties and conditions of merchantability, fitness for a particular purpose, title and non-infringement. To the maximum extent permitted by law, Mondaq expressly excludes all representations, warranties, obligations, and liabilities arising out of or in connection with all Content. In no event shall Mondaq and/or its respective suppliers be liable for any special, indirect or consequential damages or any damages whatsoever resulting from loss of use, data or profits, whether in an action of contract, negligence or other tortious action, arising out of or in connection with the use of the Content or performance of Mondaq’s Services.


Mondaq may alter or amend these Terms by amending them on the Website. By continuing to Use the Services and/or the Website after such amendment, you will be deemed to have accepted any amendment to these Terms.

These Terms shall be governed by and construed in accordance with the laws of England and Wales and you irrevocably submit to the exclusive jurisdiction of the courts of England and Wales to settle any dispute which may arise out of or in connection with these Terms. If you live outside the United Kingdom, English law shall apply only to the extent that English law shall not deprive you of any legal protection accorded in accordance with the law of the place where you are habitually resident ("Local Law"). In the event English law deprives you of any legal protection which is accorded to you under Local Law, then these terms shall be governed by Local Law and any dispute or claim arising out of or in connection with these Terms shall be subject to the non-exclusive jurisdiction of the courts where you are habitually resident.

You may print and keep a copy of these Terms, which form the entire agreement between you and Mondaq and supersede any other communications or advertising in respect of the Service and/or the Website.

No delay in exercising or non-exercise by you and/or Mondaq of any of its rights under or in connection with these Terms shall operate as a waiver or release of each of your or Mondaq’s right. Rather, any such waiver or release must be specifically granted in writing signed by the party granting it.

If any part of these Terms is held unenforceable, that part shall be enforced to the maximum extent permissible so as to give effect to the intent of the parties, and the Terms shall continue in full force and effect.

Mondaq shall not incur any liability to you on account of any loss or damage resulting from any delay or failure to perform all or any part of these Terms if such delay or failure is caused, in whole or in part, by events, occurrences, or causes beyond the control of Mondaq. Such events, occurrences or causes will include, without limitation, acts of God, strikes, lockouts, server and network failure, riots, acts of war, earthquakes, fire and explosions.

By clicking Register you state you have read and agree to our Terms and Conditions