From DIY editing to matchmaking by DNA: how human genomics is changing society

Would you like to understand how your DNA, genes and genomics play a role in business? Would you like to know who the big players in this new field are and what their influence is on you and on society? In this article, I will explain how technological achievements in genomics have also made human genomics affordable and accessible to the general public. Social movements such as do-it-yourself-biology, companies offering gene therapy and personalized genetic testing, and firms working at the interface of genomics and artificial intelligence, cloud computing and blockchain have all joined academic researchers in building our knowledge of this groundbreaking field.

And where in this cycle are the citizens? Are they the consumable or the end product? Here, I’d also like to describe the different narratives used by businesses regarding the part citizens play in this large-scale change.

In the past, the target markets for businesses working on human genomics were the academic sphere (universities, research institutions) and pharmaceuticals. Over the last decade, a new target audience has emerged: the general public. This was facilitated by the drop in the price of molecular biology techniques able to read complete genomes to around $100. Many old and new companies, including start-ups, have taken advantage of this opportunity: by 2022, the genomics business is expected to grow into a $24 billion industry.

1. Gene therapy: The advancement of science and new techniques in molecular biology are allowing large pharmaceutical companies to edit (modify, replace, change) defective genes of patients. It is important to note that some of these companies are stipulating that procedures are performed only on somatic cells (any cell in your body that is not an egg or sperm cell). This disclosure is significant especially in the light of the global controversy surrounding gene-edited embryos in China.

2. Direct to consumer genetic testing (DTC-GT): These companies in this sector usually ask their clients to send a saliva sample, from which they can extract information regarding to a variety of topics, such as their proneness to certain diseases, association with specific abilities, how their genes compared to those of a professional athlete, what the individual’s diet/exercise/cosmetics should be, what types of clothing they should wear … and even who their perfect love match might be.

3. Equipment and reagents for do-it-yourself biology (DIY bio): These companies are focused on selling products to non-experts for conducting genetic engineering experiments at home. Some products contain gene-editing tools to perform experiments on small animals, whereas others can be used directly on humans.

4. Buying and selling genetic data: Some DTC-GT companies have been selling their client's genetic information to pharmaceutical companies, which are later used for conducting research on a large amount of genetic data.

Yes. As we enter the Fourth Industrial Revolution, this should not come as a surprise. Nowadays, there are several ways that the field of human genomics is incorporating other technologies – such as:

Blockchain: Since some of the aforementioned companies (#4) are already selling their client's genetic information, other companies have emerged to give the public the chance to sell their own DNA data through blockchain. Through this system, clients get a DNA token (a new cryptocurrency) in return for selling their genetic information online.

Cloud computing: Big tech firms such as Apple, Amazon and Google are offering services to store the petabytes of genetic data created online. There are also other smaller companies making use this storage system to provide services (e.g. hospitals wishing to store and manage the genetic data of their patients).

Artificial intelligence and machine learning: Big pharma is using AI and machine learning for deep analysis on thousands of molecules that have the potential to become future drugs. This compares favourably with traditional ways that require more human capital and many hours of experimentation in the laboratory.

Most companies appeal to the individual needs of citizens through attractive prospects like personalized preventive healthcare or tailored disease treatment. Other companies focus more on entertainment, and promote narratives that appeal to citizens interested in knowing their roots and ancestors, understanding their own personalities, obtaining personalized cosmetics or diets for improving their health, and even in understanding the behaviour of their pets. Companies working at the interface of human genomics and AI point out that scientific data is too big for humans to comprehend – therefore, they are the most efficient way to accelerate scientific discovery. Finally, DIY bio companies target the public by popularizing the idea that they are democratizing science.

For more than half of these new businesses, the target audiences are citizens, and by the use of powerful social media and marketing campaigns, they can reach large numbers of people worldwide. In the report Omics in Society: Social, Legal and Ethical aspects of Human Genomics we note that the booming business in human genomics has opened many opportunities for development, but also that it sometimes overlooks ethical and legal considerations. It is imperative we bring non-scientific groups into this debate, in order to discuss moral issues such as:

- The lack of international guidelines and quality monitoring of DTC-GT companies.

- The fuzziness surrounding ownership of the genetic data and its confidentiality.

- Gene editing of human embryos.

- The lack of consistent ethical guidance on DIY bio experimenting on human and other animals.

If we want to include citizens within the policy cycle, we have to show them the potential social and/or ethical impacts arising from developments in the human genomics field. Here is where scientists all over the world should speak out about these issues and share their knowledge with wider audiences. Only in this way can we open an informed dialogue that contributes to the co-creation of better policy measurements that will keep pace with these fast-growing technologies.

This article is based on the Joint Research Center's report " Omics in Society: Social, Legal and Ethical aspects of Human Genomics" which was written by the author in collaboration with Paulo Rosa and Carlos Pereira.