Genetic discrimination and the ghost of the future past

Unless people are brought into conversations about genetic discrimination dystopian scenarios may come to pass.

In 1981, Marvel Comics released a storyline in the Uncanny X-Men series, entitled Days of the Future Past. In its dystopian future, a race called mutants, carriers of unique genetic variations, are hunted by giant robots and incarcerated in concentration camps. It was an extravagant tale of science fiction — later made into a Hollywood blockbuster — that kids all over the world read with delight.

But in 2023, we are entering an era where sequencing individuals’ genomes for health or identification purposes is becoming routine. The benefits are numerous, from public health to disease prevention and personalised medicine. But can genetic information also be used to discriminate between individuals and oppress vulnerable population groups as in Days of the Future Past?

Interestingly, the first genetic discrimination predates Days of the Future Past. In the late 1970s mandatory genetic screening programmes for sickle cell disease (a group of inherited blood disorders) in the US adversely impacted members of the Black population who were not able to gain employment or medical insurance following a positive test result.

While given a high profile in the media, such incidents and related ones involving rare genetic conditions have been relatively uncommon due to technological limitations and poor knowledge of the genome.

The structure of the DNA molecule was revealed 70 years ago this week. The first outline of the human genome was published 23 years ago, and details filled continually. Now, genome science and technologies are offering up terabytes of data and, revisiting Days of the Future Past, it is difficult to prevent a feeling of discomfort from surfacing.

Existing surveys on genetic discrimination are too disparate and limited in scope to enable any meaningful assessment of its prevalence. But the available evidence does show that genetic discrimination exists and that it mostly occurs to people with a mutation on a single gene, predisposing them to late onset, serious disorders (for example, Huntington’s disease).

Laws have been adopted in North America, western Europe and in some other countries to prevent such discrimination. However these laws are struggling to keep pace with technological advances in the study of genes and DNA. Because of the exponential growth of research databases and direct-to-consumer genetic services, a major challenge is that genomic data has become increasingly accessible and easier to link to individuals. Indeed, genetic information from most individuals, or a relative, of European ancestry is already available somewhere in a genetic database.

Genomics is becoming increasingly useful for healthcare in areas such as pandemic prevention, development of precision therapeutics and complex diseases that involve the interaction of multiple genes and environmental factors. These are new uses and it is uncertain whether these are covered by the non-discrimination laws that were adopted decades before genomic medicine became omnipresent.

Genetic discrimination, like other types of discrimination, also remains hard to prevent in practice. For example, most laws focus on preventing discrimination are based on genetic test results. So some insurance companies will instead ask whether a person has been advised to see a clinical geneticist or a genetic counsellor, which is not illegal. They use this as a go-around for underwriting purposes. The case law in at least one country, Denmark, has recognised the validity of such enquiries, casting a large shadow on the extent of protection provided by existing genetic non-discrimination laws.

Another sensitive area, overlooked until recently, is the use of genetic information by national governments and their agencies. A person’s DNA profile is a rich source of information on individuals’ ancestry, identity and health. Governments are increasingly seeking to use it in areas such as national security, crime prevention, immigration, and the provision of public health services. In many of these circumstances, governments’ use of genetic information will be conducive to the public good. But only if it is regulated by transparent and robust governance frameworks respectful of human rights and medical ethics.

In several countries, including the US, Canada and Germany, government agencies have tried to use genetic data for public good and it led to incidents of discrimination and stigmatisation. Such incidents, if they continue, could have the effect of stigmatising genetic information and weakening public trust in genomic research.

Particularly worrisome is that several governments, including Kuwait and China, have envisioned a national database that would include the genetic profile of all citizens of the country, or whole population groups, to facilitate surveillance and crime prevention. Such scenarios open the door to the dystopian societies such as the one described in Days of the future past.

Given the current national approaches at stopping genetic discrimination have largely been ineffective, an international Genetic Discrimination Observatory was established in 2018 to identify and prevent genetic discrimination worldwide through multidisciplinary collaborative research, policymaking, tool development and advocacy. More efficient and affordable genetic screening carries the potential for significant improvements in healthcare. However improvements will only be achieved if individuals across the world have sufficient confidence that their information will not be abused.

Yann Joly is the research director of the Centre of Genomics and Policy (CGP). He is a full professor at the Faculty of Medicine and Health Sciences, Department of Human Genetics at McGill University. He created the world’s first international Genetic Discrimination Observatory (GDO) in 2018. The research for this article was undertaken with financial assistance from Genome Canada.

Originally published under Creative Commons by 360info™.