The social, ethical, and legal impacts of genomics research
Scientists’ ability to understand individuals’ DNA is improving all the time. This raises questions about how we think about ourselves and others.
Many organizations have used the slogan “it’s in our DNA” to mean that something is part of their core mission or values. But really, what is in your DNA? Is it the chin that looks like your mother’s or the eye color that is just like your grandfather’s? What story does your DNA tell about the hundreds or thousands of ancestors before you? How does DNA contribute to who we are, or how each of us is treated within society?
Studies about the ethical, legal, and social implications (ELSI) of genomic research give us a better appreciation of what truly is, and is not, in our DNA — and how that affects us, our families, communities, and society.
Ethical and social questions
The scientists who launched the Human Genome Project recognized that having a complete human genome sequence would raise many ethical and social issues. In 1990, the Ethical, Legal, and Social Implications (ELSI) Research Program was started at the National Institutes of Health (NIH) as a key part of the Human Genome Project. The research supported by this program ranges from genomics and health disparities to inclusion of diverse populations in genomics research to whether people should have the right to refuse to know genomic testing results. The Kaiser Permanente Research Bank Community Advisory Board has been engaged in discussing and advising on ELSI issues since it started.
Consent and privacy
Some of the biggest issues in ELSI research are questions about consent and privacy. For example, what does someone need to know about a research study that will use their DNA before they agree to participate? This is called “informed consent.” Before anyone participates in the Kaiser Permanente Research Bank, they’re asked to read and then sign a consent form that describes what participation involves, so people can understand the risks and benefits of participating. The Research Bank, like other scientific studies that involve people’s participation, is overseen by an Institutional Review Board, or IRB. These boards are made up of scientists, ethicists, and members of the community. An IRB must review, discuss, and approve any research projects involving people.
Discrimination and the law
Concerns also exist about potential discrimination based on information about a person’s DNA. In 2008, President George W. Bush signed into law the Genetic Information Nondiscrimination Act, or GINA, for short. This law is now enforced by multiple federal agencies, including the United States Equal Employment Opportunity Commission. You might have seen posters saying, “Know Your Rights: Workplace Discrimination is Illegal” — those posters point out that GINA now specifically protects job applicants and current employees from discrimination based on their genetic information. GINA also prohibits health insurers from discriminating against anyone based on their genetic information when determining coverage or rates. At this time, GINA does not cover life insurance, disability insurance, or long-term care insurance.
Race
The increasing availability of genomic testing is helping to change the way we think about the concept of race in the U.S. For example, large studies of African Americans in the U.S. have shown that their genomes contain an average of 25 percent European DNA sequences. In the same studies, Latino genomes in the U.S. show a mix of DNA from African, Native American, and European sources. It turns out that two people who call themselves the same race or ethnicity may be quite different at the genomic level. With our growing understanding of genomics, we can combine genomic information with historical records and social data to understand how the concept of race has changed over time.
Polygenic risk scores
As polygenic risk scores (PRS) come to play a larger role in medical care, it will be important to develop guidelines related to various ELSI issues involved. For example, if someone has a high PRS for a certain condition, will people be at risk for over-treatment? Similarly, will people be at risk to not receive appropriate treatment if their PRS is low for a particular condition? While many experts believe that polygenic risk scores will be viewed similarly to other clinical lab tests, these are the types of ELSI issues that have arisen as genomic research is starting to become part of health care.
