Genomics, Rights, and Justice

I. What is Informed Consent?

      Informed consent is defined as “a patient’s consent to a medical or surgical procedure or to participation in a clinical study after being properly advised of the relevant medical facts and the risks involved” (Dictionary.com).

HAVASUPAI VS. ASU CASE

      The Havasupai vs. ASU case largely deals with the issue of informed consent when handling biological samples such as blood or DNA. In this well-known incident, “a large portion of the secluded Havasupai tribe gave their DNA samples to Dr. Therese Markow of Arizona State University in hopes of pinpointing a cause to the tribe’s alarmingly high rates of diabetes. Although the tribe was under the impression their samples would only be used for diabetes research, it was discovered that the researchers had other plans in mind” (Pyle, 2017). These other plans included differing mental illnesses as well as geographical origins, tracing the tribe back to Asia rather than Arizona.

      To the tribe, the repurposing of the blood was offensive and hurtful since their blood has “deep, spiritual meaning” (Bracken, 2010). In this particular case Dr. Markow said that she “had obtained permission for wider ranging genetic studies” including “diabetes education”, “collecting and testing blood samples from individual members to identify diabetics or persons susceptible to diabetes”, and “genetic testing to identify an association between certain gene variants and diabetes among Havasupai people” (Harmon, 2010). Thinking about how few members of the tribe graduated high school while also having English as their second language, they presumably did not fully understand the legal documents that they  signed for their consent. Although the researchers told them that the research would just be for diabetes, the consent forms stated that the samples would be used for research on “behavioral and medical disorders”, no one was told it would include studies on schizophrenia or population migration. The tribe did this without knowing that this would mean the blood samples would eventually be published in more than 10 different research articles. When the tribe found out that research about them performing incest and originating from Asian descent had been published, they questioned their rich culture.  With blood having such a deep meaning in this community, this information being published was very detrimental to their society and caused group harm.

This case increased awareness of culturally sensitive issues with informed consent and uses of samples. When the court case was settled, ASU was “required to pay the Havasupai $700,000..return all blood samples in its possession..return all documents containing research derived from the blood samples..terminate IRB approvals for any ongoing or new research using the samples..and  provide the tribe with a list of all entities to which it had previously transferred the samples” (Drabiak-Syed, 2010). Although the Havasupai did end up settling the case, their culture will never be the same due to this incident. People will think of the Havasupai and assume because of the published papers that they are known for inbreeding. While the tribe members may have vaguely known what was going to be done with their blood samples, they did not understand the extent to which they would be used. Not fully understanding what their blood samples would be used for is directly correlated to the informed consent, it wasn’t completely accounted for.  

HENRIETTA LACKS

Henrietta Lacks was an African-American woman diagnosed with cervical cancer in 1951 and painfully died eight months later, but her cells are still alive and thriving today (Skloot, 2010). The full story of the HeLa cell line can be found in Rebecca Skloot’s book “The Immortal Life of Henrietta Lacks” (Skloot, 2010). Lacks was a victim of unconsented tissue sampling and distribution of her cells to researchers all around the world, which gave rise to the some of the biggest breakthroughs and advances in science today (Caulfield & McGuire, 2013). The legal and policy issues associated with patients like Lacks revolve around informed consent and the right to claim biological samples as ‘private facts’. In the case of Henrietta Lacks and others who donate to research, these samples should constitute private facts and should require informed consent before use. However, the publication of information derived from blood or tissue samples may not require informed consent, except in the case of publication of an individual’s genome sequence. There is an argument that the real problem of consent arises with the lack of consent from Lacks in the recent publication of her sequenced genome.

In 1951, Henrietta Lacks was not asked if her cells could be used for research, today there are different regulations in place to prevent this.

“When a person is having tissue removed (with their consent) as part of a treatment intervention and is asked for permission to allow a piece of that tissue to also be available for use in a related ongoing genetic study, valid consent for the additional research use would require that the participant be told clearly whether the genetic study is an integral part of the treatment protocol or is an entirely separate investigation” (Kapp, 2006)

 

II. Current Policy

Common Rule:

Informed Consent-

• The information that is given to the subject or the representative shall be in language understandable to the subject or the representative. No informed consent, whether oral or written, may include any exculpatory language through which the subject or the representative is made to waive or appear to waive any of the subject’s legal rights, or releases or appears to release the investigator, the sponsor, the institution or its agents from liability for negligence.

Problems with current policy:

“Overtime, the process has in many cases devolved to focus on the creation of a complicated legal document rather than to deliver the purpose of informed consent: informing potential subjects that research is taking place and providing them with the actual information that they require to make an informed decision about whether to participate.” (Proposed Revisions, 2015)

“As the ANPRM notes, current regulations on informed consent are confusing and inflexible and may require inclusion of inappropriate content. Moreover, IRBs may read the regulatory requirements in a way that limits what flexibility is now permissible.” (Proposed Revisions, 2015)

The Havasupai case demonstrated this as well as many other problems with informed consent. It is difficult to acquire legitimate informed consent when those participating in research struggle to understand what exactly they are consenting to. Many members of the Havasupai tribe were unable to grasp the scientific techniques implemented and truly understand the nature of the research that their samples were being used for.

Private Fact-

• Private information includes information about behavior that occurs in a context in which an individual can reasonably expect that no observation or recording is taking place, and information which has been provided for specific purposes by an individual and which the individual can reasonably expect will not be made public. Private information must be individually identifiable (i.e., the identity of the subject is or may readily be ascertained by the investigator or associated with the information) in order for obtaining the information to constitute research involving human subjects.

Problems with current policy:

Private facts are pieces of information about a person’s life that is not publicly known, that is not of legitimate public concern, and if published could be offensive to a person. From this definition, Lacks’ situation clearly indicates that her tissue samples and subsequent cell cultures do constitute private fact. In addition, Lacks should have granted informed consent before any work was done or any kind of distribution took place, as well as the rights guaranteed to her under the constitution of private fact. The right to claim one’s biological samples as private fact allows them to control who is allowed to use the samples and for what kind of research.

Lacks participated in this research without being given the opportunity to provide proper informed consent (Caulfield & McGuire, 2013). While there is some uncertainty surrounding legal and ethical concepts of human tissue research, in this regard, one’s sequenced genome should be considered private fact. There are many possibilities of manipulation and discrimination associated with the publication of one’s genome.

III. Laws and Regulations

GINA

GINA is designed to protect American citizens from discrimination by health insurance companies and employers based on their genetic information. This means that you cannot be charged a higher insurance premium or be denied employment based on unfavorable genetic variations. However GINA does not protect against discrimination by:

• Life insurance
• Disability Insurance
• Long-term care Insurance

It’s in the Fine Print:

“The Department also acknowledges that, at this time, it does not have the information necessary to more precisely and carefully measure the extent of such an impact on the long-term market in order to appropriately balance an individual’s privacy interests with such an impact. Thus, this final rule excludes long-term care plans from. . .”

. . .

“Long-term care plans, while not subject to the underwriting prohibition, continue to be bound by the Privacy Rule, as are all other covered health plans, to protect genetic information from improper uses and disclosures, and to only use or disclose genetic information as required or expressly permitted by the Rule, or as otherwise authorized by the individual who is the subject of the genetic information.” Modifications to the HIPAA Privacy, Security, Enforcement, and Breach Notification Rules Under the Health Information Technology for Economic and Clinical Health Act and the Genetic Information Nondiscrimination Act; Other Modifications to the HIPAA Rules (2013).

The lack of protections from discrimination in this sector of the healthcare field demonstrates huge flaws in GINA’s efficacy. Though you won’t be required to pay higher premiums for health insurance based on genetic information, you could be required to pay more for disability or long-term care insurance, which are, arguably, subtypes of health insurance. Obviously insurance companies in this sector stand to gain a great deal from charging higher premiums to those whose genetic predispositions increase the likelihood that they will make insurance claims of these types earlier than most. Examples of genetic predispositions that would allow these types of insurance companies to discriminate against you include Alzheimers, joint problems, breast cancer, heart disease, and many more. If the loophole exists you better believe these companies will be taking advantage of it. If the Privacy Rule is supposed to protect your genetic information from misuse let’s examine it next.

The Privacy Rule

More Fine Print:

“These health privacy protections are intended to provide consumers with similar assurances that their health information, including genetic information, will be properly protected. Under the Privacy Rule, health plans, health care clearinghouses, and certain health care providers must guard against misuse of individuals’ identifiable health information and limit the sharing of such information. . .” Standards for Privacy of Individually Identifiable Health Information; Final Rule (2002).

This wording makes it unclear how proper protection of genetic information is defined. This wording specifically limits misuse and sharing of the information. But if you agree to sharing in the terms and conditions it cannot constitute misuse. Additionally, if an insurance company that GINA does not prevent from discriminating against you already has access to your genetic information then there is no need to share it to discriminate against you. The terms and conditions of direct-to-consumer DNA sequencing companies like 23andMe allow them to share consumers’ genetic information with many different parties.

23andMe Information Sharing

The Most Fine Print:

“We share the information described above in Section 3 with our service providers, as necessary to provide their services to us. Service providers are third-parties (other companies or individuals) that help us to provide, analyze and improve our Services.”

. . .

“We may share aggregate information with third-parties, which is any information that has been stripped of your Registration Information (e.g., your name and contact information) . . . consists of data about a single individual’s genotypes, diseases or other traits/characteristics information.”

. . .

“We may share some or all of your information with other companies under common ownership or control of 23andMe, which may include our subsidiaries, our corporate parent, or any other subsidiaries owned by our corporate parent in order to provide you better service and improve user experience.”

. . .

“Under certain circumstances your information may be subject to disclosure pursuant to judicial or other government subpoenas, warrants, or orders, or in coordination with regulatory authorities, we may be required to disclose personal data in response to lawful requests by public authorities, including to meet national security or law enforcement requirements.” (Privacy Highlights)

When you agree to these terms and conditions you might as well be signing away all the privacy rights you should have to your own genetic information. 23andMe will be sharing your genetic data with it’s service providers, aggregate research third parties, any company owned by 23andMe or any company owned by the same company 23andMe is owned, and, of course, law enforcement.

The idea of the Genetic Information Nondiscrimination Act and the Privacy Rule sounds nice on the surface. But in reality these regulations are written in such a way that they could be interpreted very loosely in a court of law. Additionally, the privacy policy of a direct-to-consumer genome sequencing company like 23andMe seems to be designed to make genetic data privacy nonexistent. Since all consumers who get this testing done agree to these terms and conditions they have no recourse through the Privacy Rule when their information is shared, legally, with companies that are allowed to discriminate against them based on the way GINA is written.

 

This was a collaborative class project that represents multiple viewpoints. Some views may not be shared by all contributors to this page.

IV. About the Authors

Cole, Marissa, Emily, Noelle, and Amanda are ISAT 456: Ethical, Legal, and Societal Implications of Biotechnology students at James Madison University who have been focusing on the legal and policy aspects of the genomics, rights,and justice module.

V. References

1. Bracken, K., & Harmon, A. (Writers). (2010, April 22). Blood Journey [Video file]. Retrieved February 20, 2017, from https://www.nytimes.com/video/us/1247467672743/blood-journey.html
2. Caulfield, T., & McGuire, A. L. (2013). Policy uncertainty, sequencing, and cell lines. G3 (Bethesda, Md.), 3(8), 1205–7. https://doi.org/10.1534/g3.113.007435
3. Drabiak-Syed, K. (2010). Lessons from Havasupai Tribe v. Arizona State University Board of Regents: Recognizing Group, Cultural, and Dignitary Harms as Legitimate Risks Warranting Integration into Research Practice. Journal of Health & Biomedical Law, 6(2), 175-225. Retrieved February 20, 2017, from http://www.suffolk.edu/documents/Law%20Journal%20of%20H%20and%20B/Drabiak-Syed-175-225.pdf
4. Harmon, A. (2010, April 21). Indian Tribe Wins Fight to Limit Research of its DNA. New York Times. Retrieved February 21, 2017, from http://www.nytimes.com/2010/04/22/us/22dna.html?_r=0
5. Informed consent. (n.d.). The American Heritage® Science Dictionary. Retrieved February 28, 2017 from Dictionary.com website http://www.dictionary.com/browse/informed-consent
6. James, G. University of Southern California Libraries and California Historical Society. (1923, January 1). Two Havasupai Indian women basket makers, ca.1900 [Digital image]. Retrieved February 20, 2017.
   CC by 3.0 https://creativecommons.org/licenses/by/3.0/
7. Kapp, M. B. (2006). Ethical and legal issues in research involving human subjects: do you want a piece of me? Journal of Clinical Pathology, 59(4), 335–9. https://doi.org/10.1136/jcp.2005.030957
8. Modifications to the HIPAA Privacy, Security, Enforcement, and Breach Notification Rules Under the Health Information Technology for Economic and Clinical Health Act and the Genetic Information Nondiscrimination Act; Other Modifications to the HIPAA Rules, 78 Fed. Reg. 5661-5662 (to be codified at C. F. R. 160 and 164).
9. Privacy Highlights. (2016, September 29). Retrieved from https://www.23andme.com/about/privacy/
10. Pyle, Amanda-Leigh (2017, February). Constituting Blood Samples and the Derived Information as Private Facts. Unpublished Essay submitted to ISAT 456.
11. Skloot, R. (2010). Excerpt From The Immortal Life of Henrietta Lacks. Oprah.Com, 1–19. Retrieved from http://www.oprah.com/world/Excerpt-From-The-Immortal-Life-of-Henrietta-Lacks_1/3
12. Skloot, R. (2010). The Immortal Life of Henrietta Lacks. New York, NY: A Broadway Paperback.
13. Sparks, J. (2002). Timeline of Laws Related to the Protection of Human Subjects. Retrieved February 23, 2017, from https://history.nih.gov/about/timelines_laws_human.html
14. Standards for Privacy of Individually Identifiable Health Information; Final Rule, 67 Fed. Reg. (to be codified at C. F. R. 160 and 164).
15. St.George, Marissa (2017). The Legal Issues Associated with The Immortal HeLa Cell Line. Unpublished Essay submitted to ISAT 456. https://docs.google.com/document/d/1LBKQJEfXg5dCYoOHieSYuFEPcqKdYVrIGMvWzct1xVA/edit?usp=sharing
16. (U.S.), N. R. (2015). Proposed Revisions to the Common Rule for the Protection of Human Subjects in the Behavioral and Social Sciences. National Academies Press.
17. 45 CFR 46. (2016, February 16). Retrieved March 02, 2017, from https://www.hhs.gov/ohrp/regulations-and-policy/regulations/45-cfr-46/index.html#46.116