Written by Luisa Antunes.
The rapid growth of genetic databases worldwide, coupled with fast-decreasing costs and the rapid pace of technological change, has increased the possibility of every human genome on Earth being sequenced this century. This raises ethical and legal questions on data privacy and ownership. While a global genetic database would revolutionise preventive medicine and research, new forms of surveillance, discrimination and power imbalances could emerge. The global interplay between the individual, the state and private individuals could shift, requiring modern and flexible legislation to protect the rights of the individual.
When genome-sequencing technology – the ability to read each ‘letter’ of our DNA code – was first developed in the 1970s, it involved a laborious process of sequentially identifying each base pair (between A, T, G or C). This revolutionary technology became the ‘gold standard’ used until the 2000s, including in the first successful cloning of a mammal, Dolly the sheep, born in 1996. The 1990s also saw a race for the first human genome sequence, achieved in 2001. Newer, next-generation sequencing techniques have since evolved, allowing for faster and cheaper results. Where sequencing a human genome (more than 3 billion base pairs) cost US$95 million in 2001, it is now feasible for under €500 and within 24 hours. Yet, the first fully complete human genome sequence was only published in early 2022, with the sequencing of the missing 8 %.
Alongside these technological advances, the last 30 years have seen the emergence of DNA databases hosted by governments and companies for forensic or health purposes. The first was created in the United Kingdom in 1995. It hosts DNA from 6.6 million individuals linked to crime scenes, but has been accused of racial bias, since 40 % of the DNA samples came from males of ethnic minority origin, in contrast to 9 % from white men. The United States database (with 9 million profiles) has come up against the same criticism. Questions of data privacy and human rights loom over China’s profiling of more than 40 million individuals, including ethnic minorities. In Kuwait, DNA testing was made mandatory for the entire population in 2015 as an anti-terrorism measure, a requirement abandoned only two years later, because of privacy concerns. Closer to home, France hosts the EU’s biggest forensic database, with 1.9 million DNA profiles, while Interpol has access to 54 national DNA databases.
Health genetic testing started in the mid-1980s, to detect cystic fibrosis and other rare genetic conditions. Estonia and Iceland were pioneers, with 15 % and 8 % of their respective populations now sequenced, which has allowed research on national ancestry and the epidemiology of rare genes. The UK, the Faroe Islands and three northern provinces in the Netherlands also have large databases. The USA has sequenced 1 million genomes. In Dubai, a large-scale project was launched in 2018, to prevent genetic disease. In Russia, the processing of personal data, including beliefs and sexual identity, is permitted for research purposes without personal consent. Privately owned databases entered the market in the late 1990s. They offer direct-to-consumer (DTC) genetic testing for genealogy and health purposes. The largest are AncestryDNA, with 14 million records, followed by 23andMe (9 million), MyHeritageDNA (3 million), and Family Tree DNA (2 million).
We carry 10 times more microbial cells in our bodies than human cells. The bacteria and other microorganisms that live in our skin, intestines, mouth and sexual organs contribute to the normal functioning of the immune system and help combat the development of several diseases, including Covid‑19. It can therefore be argued that a world human genome database would not be complete without including microbiome data. The Human Microbiome Project, which ran from 2007 to 2016, collected 32 terabytes of metagenomic data on the link between our microbiota and common diseases.
The rapid development of public and private databases, along with fast-declining costs and ever-evolving technology, is opening the door to a future where all human genomes could be sequenced. However, the first impact may well be the production of copious amounts of data, requiring improved data processing and storage.
The medical field is likely to be revolutionised, with advances in the research and treatment of both common and rare diseases. Medical research may become more equitable, if the genetic diversity of existing databases, currently heavily biased towards those of European descent, is widened. BRCA1/2 gene screening made news headlines in 2015, when actor and United Nations (UN) Special Envoy Angelina Jolie went public with her decision to undergo a double mastectomy to reduce her chances of developing breast cancer. Preventive medicine could become standard in the detection of cancers and Alzheimer’s disease. However, genetic predisposition is not always deterministic, as environment, personal health and life choices also play a significant role in disease development. Genetic screening has also been shown to temporarily increase psychological stress for individuals. Should genome editing lead to increased population longevity, it is to be expected that there will be implications for demography, the economy, education, employment, the environment, healthcare, housing and pensions .
In evolutionary anthropology, a recent study revealed links between genetics and migratory historical events during the Spanish Reconquista. The large hereditary investigation market opened by DTC testing could have serious consequences, if information on all human genomes becomes freely accessible, with implications for family relations, as well as data ownership and privacy rights, in the particular cases of sperm donation and adoption.
Genetic surveillance will also be affected. In a world where everyone has their genome sequenced, a clear legal framework will be crucial in defining who has access to and who owns the data (the state, private companies and/or individuals). One option would be for every human to have their own DNA privately stored and to be able to decide when to share it with trusted entities – doctors for example.
Questions of data privacy also link to ethical and equity issues. Widely accessible genetic information could open the door to new forms of discrimination in the workplace (recruitment based on genetic disease risk), in education (selection based on genetic traits), in healthcare and by insurance companies (more expensive rates for those with unfavourable traits).
In a future where all human genomes are sequenced, legislators will need to address ethical and privacy concerns. This calls for interdisciplinary ethical bodies with experts in legal, societal and medical fields. The UN Educational, Scientific and Cultural Organization (UNESCO) considers genetic data to be a human rights issue. The 1997 Oviedo Convention on Human Rights and Biomedicine (not yet signed by all EU Member States) is the only international legally binding instrument on the protection of human rights in biomedicine, including genetic data. Genomic sequencing has since expanded, and framework gaps and the need for privacy safeguards have become increasingly clear. As genetic data has become a source of profit for insurance and DTC companies, future legislation will need to differentiate between commercial and public health interests. While restrictive legislation on accessing genetic data might offer protection against discrimination, the same restrictions could prevent researchers from investigating novel medical approaches. Two legislative acts are relevant in this field. The European Commission’s European health data space (EHDS) proposal is aimed at ensuring a clear legal framework, while empowering individuals’ control over their health data. The proposed AI act will play a key role in genetic data governance, as digital rights extend to personal genetic data. On the privacy of genetic data, the General Data Protection Regulation (GDPR) offers a starting point for effective policy-making. Legislation will need to address companies offering DTC testing, where a regulated market could help set up quality assurance for genetic testing services. The Council of Europe has adopted a recommendation stating that insurance companies should not request genetic testing. Finally, EU legislation should address the potential international impacts of sequencing all human beings. International agreements on genetic data usage are desirable; otherwise, countries with fewer regulations could offer loopholes for more heavily regulated business sectors in the EU.
Read this ‘at a glance’ on ‘What if we sequenced all human genomes?‘ in the Think Tank pages of the European Parliament.
Listen to policy podcast ‘What if we sequenced all human genomes?’ on YouTube.