GESTIÓN EN SALUD PÚBLICA: April 25: Social Context - National Human Genome Research Institute (NHGRI)

sábado, 12 de mayo de 2018

April 25: Social Context - National Human Genome Research Institute (NHGRI)

Social Context

Fostering an appreciation for what our DNA means for our health, our identities and our culture

April 25, 2018

Do you know ... what the slogan "it's in your DNA" is really all about?

Our ever improving ability to read anyone's genome sequence raises many issues regarding the social context of genomics. Information about our genomes is starting to become part of our everyday life. Genomic information shapes societal messages about DNA in how we think about ourselves and how others view us.

Companies, universities, nonprofits, and many other organizations have used the slogan "it's in our DNA" to mean that something is part of their core mission or values. Our understanding of our DNA also extends to our understanding of ourselves: 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? What continents did they migrate through in times long past? How does your DNA contribute to who you are, or how you are treated within your society?

Continued studies of the ethical, legal, and social implications of genomic advances can help to break down barriers and yield a better appreciation of what truly is, and is not, in our DNA - and what that means to us, our families, and communities and society.

Genomics Raises Ethical and Social Questions

The scientists who launched the Human Genome Project recognized immediately 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 formally established at the National Institutes of Health (NIH) as an integral 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. Over the last 15 years, this research has greatly advanced our understanding and appreciation of the complex societal implications of genomics.

Consent and Privacy in Genomics

Among the major areas of study in ELSI research are questions about consent and privacy. For example, what do you need to know about a research study that will use your DNA before you agree to participate? That's called "informed consent." As new areas of genomics have developed in recent years (like learning about microbiomes), researchers have needed to continually update their guidelines, so as to help people understand the relevant risks and benefits before signing up to be a research participant. Such studies are overseen by Institutional Review Boards (or IRBs), and these boards are made up of scientists, ethicists, and members of the community. An IRB must approve any research projects involving humans.

The widespread availability of genomic data has brought changes to privacy considerations as well. When a test is performed on your DNA, either through a research or clinical program, how is the privacy of your genomic data maintained and does that align with how you want those data to be protected? Since you share half of your genome with each of your parents, and half with each of your children, the information is not just about your genome. Should you be able to stop your relatives from revealing genomic information that could be relevant to you as well? And does that answer change based on what the test is for? Let's say that one of your parents learns from a genetic test that they have Huntington's disease, which is often diagnosed quite late in life. This gives you a 50-50 chance of carrying the same genetic mutation for this fatal neurological disease. Some people react to such information by wanting to know right away what their future might be, while others do not want to know.

Another privacy issue that has arisen in the genomics era is when are you entitled to receive all of your data back from a DNA-based research study or a clinical test. In the case of genomic tests, this can often be a lot of data! Research studies do not often return data to their participants, whereas patients are more often provided the results of clinical tests. If you have had direct-to-consumer (or DTC) genomic testing, the companies might have let you download your entire dataset. You might want to share such data with other research groups in order to further science or with other healthcare professionals for your medical care. There are also many questions about what the companies might do with the data, and most companies have user agreements which you must agree to, where they specify their plans up front. This may include sharing your data with others, including pharmaceutical companies and law enforcement. As President Obama noted in 2016, there is a difficult balance in making your data available for some purposes while still keeping them private for other reasons.

Discrimination Based on Genomic Information

Concerns also exist about potential discrimination based on information about a person's DNA. In 2008, President 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, "Equal Employment Opportunity is THE LAW" - 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. As in all potential discrimination areas, even though legal protections are in place under GINA, it is important to be knowledgeable about your rights and to know if and when they might be abused.

Genomics and Race

The broad availability of genomic ancestry testing is influencing the way we think about the concept of race in America (see Human Origins and Ancestry). We now understand that skin color, as one component of how we think of ourselves, is due to a complex interaction of genes and the environment (see Human Genomic Variation). When we can see the genomic patterns of our ancestors in our own DNA, it might not be the same as how we describe ourselves (or how they described themselves). Large studies of African Americans in the United States have shown that their genomes contain an average of 25 percent European DNA sequences; in the same studies, Latino genomes in the United States show a mix of DNA from African, Native American, and European sources. It turns out that two people who call themselves the same race may be quite different at the genomic level. With our emerging understanding of genomics, we can combine genomic information with historical records and social data in order to study the shaping of concepts such as race.

Video produced by 42 Degrees North Media

Other characteristics often associated with race are part of culture but are not written in our DNA. Racial terms change over time, sometimes even multiple times within one person's life. For example, the categories used by the national census in the United States have also contributed to what we think of as "race," but they have changed quite substantially over time. The term "Hispanic" was not offered as a way that a person could describe themselves until the 1970 census, but by 2010, people could answer whether they were "of Hispanic, Latino, or Spanish origin." Genomics is helping us understand the complex and intertwined relationships between a person's or groups' ancestry, ethnicity, and racial identity. The National Human Genome Research Institute is also monitoring the use of race and ethnicity in biomedical research, including any influence on health disparities and inclusion/engagement of underrepresented populations in genomics.

Science For Everyone

If you'd like to learn more about privacy issues, several nonprofit groups have created GINAhelp.org, a website with much more information about the Genetic Information Nondiscrimination Act. Many universities invite members of the public to join their IRBs to oversee medical research studies. A quick internet search for the universities in your area will reveal some options; here's one example from the University of Washington. Or if you would like to get involved with genetic research, you can check out the All of Us Research P roject's videos and community resources. The National Human Genome Research Project invites stakeholders to get involved in their strategic planning process as well.