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Privacy, discrimination and consent: policy in the genomic era

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photo credit: Alfred Hermida via photo pin cc

photo credit: Alfred Hermida via photo pin cc

By: Katherine Donigan

The Human Genome Project was initiated in 1990 by the National Institutes of Health, the Department of Energy and other international partners (1).  The aim of the project was to determine the complete sequence of the human genome, numbered at 3 billion base pairs.  With the complete code at hand, scientists hoped to unlock the underlying genetic causes of human diseases and discover new methods of diagnosis and treatment.  As is often the case in science, our genes proved to be more complicated than we could have imagined.

While disease associations have been linked to many different genes, the notion of “one gene, one disorder” is unlikely to be true for the most common conditions, like cancer, diabetes or hypertension (2).  One gene, mutated in different ways, may be linked to different diseases.  Alternatively, several genes may associate with a single disease and have varied degrees of contribution to the condition.  Furthermore, having a mutation in a particular gene does not always guarantee that a person will go on to develop the associated disease.  Many disease-associated gene mutations confer a “relative risk” for that disease.  For example, a woman with a mutation in the breast cancer-associated genes BRCA1 or BRCA2 will have a 60% chance of developing cancer in her lifetime, compared to about 12% for women in the general population (3).  While BRCA mutations increase the risk of breast cancer, having one of these mutations is not a guarantee of developing the disease.  Other factors can influence your risk in ways we currently cannot quantify, including environmental exposures and random mutations acquired throughout a person’s lifetime. In many cases, your genetic code can hint at your future health but only time will tell if risk will become reality.

Long before the completion of the Human Genome Project in 2003, the legal, ethical and social implications were already being addressed at the policy level.  Key questions regarding access and usage of a person’s genetic information needed to be addressed.  In 1995, federal legislation was introduced to Congress that, according to the National Human Genome Research Institute (NHGRI), sought to “allay public fears of genetic discrimination, promote public participation in medical research, and prevent genetic discrimination” (4).  Despite repeatedly failing to pass in both chambers of Congress, this legislation laid the groundwork for what ultimately would become the Genetic Information Nondiscrimination Act (GINA), passed in 2008 (5).  With the goal of preventing discrimination, GINA provides several key legal protections regarding access and usage of personal genetic information (PGI), regardless of when a person underwent a genetic test.  Insurance companies are not permitted to request genetic testing, provide PGI or use PGI to make decisions about eligibility, coverage, underwriting or premium-setting (4).  GINA protects people in the workplace by preventing employers from requesting and/or using PGI to inform hiring and employment decisions (4,6).  GINA seeks to extend the medical privacy coverage provided by the Health Insurance Portability and Accountability Act (HIPAA) to include genetic information that may reveal a person’s relative risk of specific diseases.

GINA sets the minimum level of legal protection against discrimination that states must adopt, but does not interfere with stricter state legislation that may be in place (6).  After GINA was passed, it became evident that there were key gaps in the protection the law provided.  For example, GINA does not include any provisions about other types of insurance, including life, disability and long-term care (7).  A study published in 2005 by Robert Green and colleagues showed that people who had genetic testing for their relative risk of Alzheimer’s disease were six times as likely to buy long-term care insurance if their test showed increased risk (8,9).  These types of insurers have tried to make the claim that they provide a service that is somehow distinct from health insurance, but many states disagree. These issues have begun to be addressed at the state level, with 16 states passing legislation that addresses life and disability insurance and 10 states doing so for long-term care insurance as of 2009 (9).  A detailed look at state protections is provided by the National Conference of State Legislatures (10). By expanding the protections afforded by GINA, these states are helping to further prevent discrimination based on the probability of developing a disease.

In addition to the critical, basic legal protections afforded by GINA, the law attempts to assure the public that they needn’t fear having a genetic test or participating in a genetic study.  The Office of Human Research Protections has issued guidelines for investigators and institutional review boards for including GINA-related language in informed consent forms (11) and the NHGRI has issued specific guidelines for tailoring informed consent to genomics research (12).  Data from genomic studies are routinely deposited into research databases and shared among scientists, typically with explicit permission from oversight committees.  NHGRI recommends that study participants should be notified regarding how their PGI will be stored and identified, and whether it will be shared with other researchers.  The use of large, pooled data sets increases a study’s statistical power and the ability to discover subtle disease associations.  Studies using shared genomic data depend on the ability of the scientific community to maintain the public’s trust through a transparent informed consent process.

However, as genomic science continues to evolve, we must continually reconsider issues of privacy and identifiability.  Recently reported in Science, Melissa Gyrmek and colleagues showed that they were able to match genomic data to a person’s last name using public genealogy databases and internet searches (13).  In the studies that obtained this genomic data, participants had given informed consent regarding privacy and identification risks, but the ability to derive a person’s identity from their PGI is concerning.  The authors conclude that further policy action is required regarding data sharing and usage, as well as education about benefits and risks to study participants.

The issue of PGI and consent recently made news when the genome of HeLa cells was published and made public (14,15).  HeLa cells are cervical tumor cells, isolated over 50 years ago from a woman named Henrietta Lacks, and this story was told in the recent book “The Immortal Life of Henrietta Lacks” by Rebecca Skloot.  These cells generated one of the first human cell lines and are grown in laboratories across the world, but were used without the patient’s consent.  The publication of the HeLa genome was of great interest to the numerous scientists who use the cells, but consent was not obtained from the living relatives of Ms. Lacks. The authors of the study claimed that there was no way to infer anything about the relatives of Ms. Lacks from the data they published.  According to Ms. Skloot, as a proof of principle, several scientists took the HeLa genome data and uploaded it to various online tools used to analyze DNA sequences, obtaining “a report full of personal information about Henrietta Lacks, and her family” (15).  Would Henrietta Lacks have consented to the use of her cells and her genomic information?  We will never know.  While informed consent may allow study participants to be aware of the possible identifiability and privacy issues, people may be less inclined to participate at all.  There is now legislation in place to prevent discrimination based on your genes, but how to address issues of privacy and identifiability remains unclear.  What is clear, however, is the need for policy to keep up with the pace of science, especially in the genomic era.

1. NIH Fact Sheet on the Human Genome Project

2. Badano et al. Human genetics and disease: Beyond Mendel: an evolving view of human genetic disease transmission (Nature 2002)

3. NCI Fact Sheet on BRCA and cancer risk

4. NHGRI Fact Sheet on genetic discrimination

5. Official draft of GINA

6.NCI Cancer Genetics Risk Assessment and Counseling

7.David Schulz for NPR: It’s Legal For Some Insurers To Discriminate Based On Genes

8. Taylor et al. “Genetic testing for Alzheimer’s disease and its impact on insurance purchasing behavior.” (Health Affairs 2005)

9. Meredith Wadman “Gaps in genetic antidiscrimination law spur state action” (Nature Medicine 2009)

10.National Conference of State Legislatures: Genetic Information: Legal Issues Relating to Discrimination and Privacy

11. Office for Human Research Protections: Guidance on GINA

12. NHGRI: Informed Consent Elements Tailored to Genomics Research

13. Gymrek et al. Identifying Personal Genomes by Surname Inference (Science 2013)

14. Landry et al. The Genomic and Transcriptomic Landscape of a HeLa Cell Line. (G3 2013)

15.Rebecca Skloot, The Immortal Life of Henrietta Lacks, the Sequel (NYTimes, 3-23-13)


Written by sciencepolicyforall

April 19, 2013 at 8:56 am

Posted in Essays

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