Journal Club Review – Crossroads of Genomics and Policy

September’s journal club was led by Eva Vasiljevic (Graduate Student in Population Health). Journal club review was written by Amanda Hurley (Postdoc in Jo Handelsman’s Lab).

For many of us scientists, the word “genomics” conjures up images of the dusty, old 9-to-5 work.  For your average citizen, “Genomics” can be a trigger word, bringing up ideas of DNA ancestry and designer babies. In September’s journal club, CaSP gathered to discuss the intersection of genomics with policy and public perception.

But first, what is genomics? Even with a Ph.D. in molecular biology, I needed a refresher. Genomics uses statistics to connect phenotypes (how an organism looks or behaves) and single nucleotide polymorphisms (SNPs…pronounced “snips!”). SNPs are mutations in the DNA that occur naturally from imperfect enzymatic DNA replication i.e. bringing in an A when it should be a G (nobody’s perfect). While some SNPs occur within or near a gene and could possibly cause changes in gene expression or function, the overwhelming majority of SNPs have no effect. These silent SNPs are still important as they can be inherited and be connected with other, more deterministic aspects of the genome. Experiments that attempt to link SNPs with a certain outcome are called genome-wide association or “GWAS” studies.

While designer babies are still science fiction, many companies have commercialized GWAS studies for medical and social purposes, and the current policies guiding GWAS and genomic tests center on consumer protection. If you haven’t spit into a test tube to explore your ancestry, you probably know someone who has. Technically, these products are considered medical devices and are regulated by the Food and Drug Administration (FDA), the FTC, and Medicare/Medicaid services for consumer safety. I was pleased to learn that, in 2015, the FDA wrote new classifications for this class II medical device that not only incorporates physical safety, but mental safety as well. They identified three potential risks: 1) incorrect understanding of the device, 2) incorrect test results and 3) incorrect interpretation of test results. One of the outlined tools to combat these risks is to require the company to provide contact information for a clinical molecular geneticist.  However, I think the company should be required to employ a geneticist, just so they directly feel the potential chaos of distributing disease probabilities for profit without thoroughly educating their consumers about population genetics.

Another potential consumer problem is that genomics is now used to explore more complex social traits, such as education and economic status. The science can easily be misconstrued, and, recognizing this, scientists recently published an article on genomics and education level with an “FAQ” page for better understanding. For decades, scientists have actively avoided searching for social traits in the strings of our genetic makeup. Firstly, it’s difficult. Complex traits, like human behavior, are dependent on so many factors that simple Mendelian genetics cannot explain them. Secondly, hypotheses could easily be misinterpreted, or worse, be corrupted. When Darwin unveiled his theory of evolution, some people used evolution to fuel their twisted theories on eugenics and selective human breeding to remove undesirable traits. At worst, in a Gattaca-esque dystopia, we could be chained to our SNP profile and excluded from certain career or social opportunity since we’re not “made” for it. As we tip-toe back into the study of hereditary material and social outcomes, we must protect our science from perversion and our citizens from persecution.

The two main fronts on which this battle is fought are policy and public perception. On the policy side, the sequencing of the human genome in 2003,coupled with our dark history of eugenics-rooted sterilization laws (Wisconsin recorded 1,823 sterilizations between 1915 and 1963), compelled Congress to write the Genetic Information Nondiscrimination Act (GINA) in 2008. While this law is thoughtfully composed, there are loopholes. Both the military and small employers (under 15 people) are exempt from GINA. As for public perception, scientists should be vocal about the impact of their work. Contrary to years of science communication using metaphors describing genes as blueprints or recipes, we should emphasize that SNPs are different from a “gene” and therefore typically not deterministic in outcome. Instead, the focus of the new generation of messages in the genomic age should be on communicating the complexity of gene expression, the integration of both nature and nurture, and stressing the associative relationship between SNPs and phenotypes.