By Allison M. Whelan (Guest Blogger)
On December 18, 2014, President Obama signed into law the Newborn Screening Saves Lives Reauthorization Act of 2014. The Act includes new timeliness and tracking measures to ensure newborn babies with deadly yet treatable disorders are diagnosed quickly. These changes responded to a Milwaukee Journal Sentinel investigation that found thousands of hospitals delayed sending babies’ blood samples to state labs. A primary purpose of newborn screening is to detect disorders quickly, so any delays increase the risk of illness, disability, and even death.
Although a major reason for the Act’s amendments is to address these problematic delays, another important addition to the Act establishes a parental consent requirement before residual newborn blood spots (NBS) are used in federally-funded research. The Act directs the Department of Health and Human Services (HHS) to update the Federal Policy for the Protection of Human Subjects (the “Common Rule”) to recognize federally-funded research on NBS as “human subjects” research. It also eliminates the ability of an institutional review board to waive informed consent requirements for NBS research.
This is an important addition to the law. Ninety-eight percent of infants born in the United States undergo blood tests to screen for a variety of genetic conditions as part of mandatory federal and state newborn screening programs. These tests can detect hereditary disorders and diseases for which parents may be unware. NBS are frequently stored by state health departments after the initial tests are complete. Recent lawsuits in Texas and Minnesota (discussed here) have exposed states’ use of residual NBS for research unrelated to the initial screenings without parental consent. State public health officials and researchers claim that residual NBS are necessary and vital resources for research to advance public health and well-being and that requiring parental consent would hinder important research. Parents and patient advocacy groups, however, are angry consent is not obtained and are concerned the samples could be linked back to their child and used for discriminatory purposes, such as in employment or insurance-coverage decisions. In addition to these tangible harms, there is also an inherent value many place on their rights to privacy and control over their infant’s residual NBS that is violated by these non-consensual practices.
The Government clearly has an important interest in promoting public health, but this should not justify non-consensual use of residual NBS. Informed parental consent and increased transparency is an efficient and fairly low-cost way to respect parental rights and children’s rights while still allowing the promotion of public health through medical research that seeks to detect new diseases, develop new treatments, and eradicate disease. The Act’s consent requirement is an important step, but it must be implemented on the ground. We must be willing to spend the time and resources to develop and implement adequate informed consent procedures for residual NBS research. Informed consent is a process, not a piece of paper. Federal and State governments should conduct reviews of hospital policies to ensure adequate and truly informed parental consent is being obtained.
Thanks for the update. Why would not deidentifcation of samples allow them for research without violating family privacy?
John – although many believe privacy concerns are unfounded because the samples can be de-identified, de-identification is not the same as completely “anonymous” because research has shown that de-identified samples can be linked back to the individual through certain re-identification processes. I discuss this in greater detail in my Law Review Note (https://www.minnesotalawreview.org/wp-content/uploads/2013/11/Whelan_MLR.pdf) on page 440, which also has citations to the studies in which scientists were able to accurately determine whether a specific individual’s DNA was present in a complex genomic DNA mixture that was allegedly de-identified. So although de-identification makes it harder to identify an individual, it does not completely eliminate the potential for privacy breaches and dissemination of personal biological and genetic information.
Thanks, Allison. Are you suggesting then that the federal research rules should be changed so that use of diagnostic or pathological specimens is not permitted without consent? As you know, 46.101(b)(4) exempts from its policy study of specimens “if the information is recorded … in such a manner that the subjects cannot be identified, directly or through identifiers linked to the subjects.” If the IRB must then review such proposals, I take it that they can exempt them from consent requirements on the ground that they are minimal risk? I would be interested in your thoughts about how the study you cite will affect sample study generally. thanks.
John – my comments and article are in reference to Newborn Blood Spots specifically – I believe that the change in the Newborn Screening Saves Lives Reauthorization Act of 2014 that now requires parental consent for residual new born blood spots to be used in federally-funded research is indeed appropriate. As a result of this act, NBS research is now considered human subjects research subject to the Common Rule, and therefore the exemptions for specimens and “minimal risk” do not apply. Indeed, the Act specifically states that for the purposes of the Act, “sections 46.116(c) and 46.116(d) [exemptions from informed consent for minimum risk studies] of title 45, Code of Federal Regulations, shall not apply.” Based on the new Act, IRBs can no longer exempt NBS research from consent requirements for federally-funded research. I think the Act is an important step in the right direction because it gives parents the right to be informed and consent to future use of their newborn’s residual blood spots. Without this consent, typically obtained at the infant’s birth, the residual NBS cannot be used in federally-funded research.