October 1, 2018
This article will review instances and outcomes of how individuals’ data and biospecimens have been misused in healthcare research and will outline how policy has evolved to monitor these activities
Whether you are an organ donor or you volunteer your biospecimen material for research, chances are that you can help save a person’s life ─ or contribute to the advancement of science more broadly. However, the issue of consent is relevant for both types of donations. In the United States, to donate an organ, it can be a simple yes or no question. On the other hand, in clinical research trials where researchers can collect one’s biospecimen material, written consent may be required. Moreover, how research institutions store and use this material can make the terms of individual consent a bit hazy. This article examines several instances in recent history where use of biospecimen material for research blurs the lines of consent, highlights various policies that have been implemented to increase human research subject protections as a result, and considers the ethics of human research.
The question of consent
In 1951, while a woman named Henrietta Lacks was dying of cervical cancer, physicians extracted some of her tumor tissue for research. Although her cells, known as HeLa cells, helped scientific discoveries including the polio vaccine, cloning, and in vitro fertilization, she had never given consent to the extraction or the tests conducted. HeLa cells are still used today, and Henrietta’s family has had little to no say in how researchers continue to use her material.[i]
In 1989, hundreds of members of the Havasupai Tribe, a small Indian tribe living in the Grand Canyon, consented to donating blood samples for research being performed at Arizona State University to study the high diabetes rate within the tribe.[ii] Years later, a member of the tribe discovered that these blood samples, unbeknownst to the donors, had also been used for other types of research including schizophrenia, inbreeding, and migration, some of which are taboo for the tribe or go against the members’ cultural beliefs.[iii] Arizona State eventually returned the samples and paid $700,000 to members of the Havasupai Tribe after a lengthy legal battle.[iv]
At the turn of the last century, a race amongst researchers led to the discovery and identification of two genes associated with breast cancer – BRCA1 and BRCA2. A company called Myriad Genetics, Inc. won the contest and as a result, received seven patents that included ownership over the sequenced BRCA1 and BRCA2 genes, associated mutations for both genes, and the associated diagnostic test for BRCA1.[v] Myriad soon recruited genetic counselors and physicians to learn about and understand the diagnostic test, so that they could offer the test to their patients. Eventually, some patients who completed the test became concerned with privacy and future use of their samples which were creating a growing, centralized database of genetic mutations.[vi]
Is it ethical for part of your body to live on and be used for research after you have passed? What are the questions about your material being used for future research that you may never even understand? Is it right for anyone, let alone one company, to patent human genes related to one of the most common types of cancer? Some scientists and researchers argue that since it is hard to determine what specific research will be performed in the future, it is nearly impossible to outline all possible studies that might use an individual’s biospecimen material later-on in an original informed consent document. Additionally, is it even feasible for study teams to find, contact, and obtain consent from individuals who may have moved away?
Although health services research can at times be controversial, scientific experimentation generally helps narrow the scope of finding solutions and remedies to health-related problems. Despite this, the ethics related to the treatment of human research subjects and the use of their biospecimen material should always be considered. Therefore, in the last few decades, policymakers have drafted and implemented new rules and regulations with research subjects in mind.
Until the 1970s, researchers did not have to obtain a study participant’s written informed consent. But following the famous, federally-funded, forty year Tuskegee Experiment, the National Research Act was passed in 1974. This established the National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research and required both the approval by an Institutional Review Board (IRB) ─ an ethical committee tasked with the review and monitoring of research with human participants for all human research studies ─ and the informed consent of any participating individual.[vii] The Commission went on to publish The Belmont Report in 1979, determining the core principles that should be the foundation of experimental research: respect for persons, beneficence, and justice.[viii]
In 1991, the Federal Policy for the Protection of Human Subjects became codified as federal regulations to provide legal protections for participants in clinical research.[ix] These regulations developed by the Office for Human Research Protections (OHRP) have changed over the years depending on the administration in office at the time. However, in conjunction with The Belmont Report, current OHRP policy stipulates that for any human subject research conducted or supported in any way by the government, an IRB-approved written informed consent form outlining all study procedures must be signed by the subject or his or her authorized representative before the study can begin.[x]
However, OHRP regulations allow for the collection and use of information or specimens that are de-identified (the identity of the participant may not be readily ascertained by the investigator and is not associated with the information or specimen), without consent from individuals (exempt research). [xi] The circumstances for this allowance are documented in the regulations, and the research must be reviewed and approved by an IRB and a privacy board. As healthcare research techniques have advanced, so has the interest in the use of biospecimens. In January 2017, OHRP revised its regulations to include a provision known as broad consent to allow for the use of identifiable data and specimens. Broad consent may be used in lieu of informed consent for storage, maintenance, and use of identifiable private information or identifiable biospecimens in future unspecified research.[xii] Under these provisions, research participants consent to the use of their information or specimens with the understanding that they may never know how their data or material will be used.
There are still many challenges that encompass ethics in health research today. However, IRBs, healthcare compliance programs, researchers, and their staff help to effectuate current law and can play an instrumental role in ensuring individuals’ rights are maintained without thwarting scientific discovery.
[i] Stephanie Smith. “Henrietta Lacks’ family finally gets say in genetic destiny. Can we control our own?” CNN, 11 Aug. 2013. Accessed 2 July 2018 at https://www.cnn.com/2013/08/07/health/henrietta-lacks-genetic-destiny/index.html.
[ii] “Havasupai Tribe and the lawsuit settlement aftermath”, American Indian & Alaska Native Genetics Resource Center. Accessed 26 Aug. 2018 at http://genetics.ncai.org/case-study/havasupai-Tribe.cfm.
[iv] Amy Harmon. “Indian Tribe Wins Fight to Limit Research of Its DNA”, New York Times, 21 April 2010. Accessed 26 Aug. 2018 at https://www.nytimes.com/2010/04/22/us/22dna.html.
[v] E. Richard Gold and Julia Carbone. “Myriad Genetics: In the eye of the policy storm”, US National Library of Medicine, 1 April 2010. Accessed 27 Aug. 2018 at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3037261/.
[vii] “How Tuskegee Changed Research Practices”, Center for Disease Control and Prevention, 22 Feb. 2017. Accessed 29 June 2018 at https://www.cdc.gov/tuskegee/after.htm.
[viii] The National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research. The Belmont Report. 18 April 1979. Office of Human Research Protections. Web. Accessed 2 July 2018 at https://www.hhs.gov/ohrp/sites/default/files/the-belmont-report-508c_FINAL.pdf.
[ix] “Federal Policy for the Protection of Human Subjects (‘Common Rule’) Accessed 28 Aug. 2018 at https://www.hhs.gov/ohrp/regulations-and-policy/regulations/common-rule/index.html.
[x] “46.117: Documentation of informed consent”, Electronic Code of Federal Regulations, Government Publishing Office. Accessed 28 Aug. 2018 at https://www.ecfr.gov/cgi-bin/retrieveECFR?gp=&SID=83cd09e1c0f5c6937cd9d7513160fc3f&pitd=20180719&n=pt45.1.46&r=PART&ty=HTML.
[xi] OHRP Regulations at 45 CFR Part 46.101(b)(4)
[xii] Electronic Code of Federal Regulations, 45 CFR Part 46 Protection of Human Subjects. Accessed 28 Aug. 2018 at https://www.ecfr.gov/cgi-bin/retrieveECFR?gp=&SID=83cd09e1c0f5c6937cd9d7513160fc3f&pitd=20180719&n=pt45.1.46&r=PART&ty=HTML Note that the effective and compliance date of the Revised Rule is January 21, 2019 at the time of this publication.