Genetics, DTC, and Their Social Implications: Preface
Preface to the Special Issue on Genetics, DTC, and Their Social Implications
2023 Volume 131 Issue 1 Pages 1-2
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2023 Volume 131 Issue 1 Pages 1-2
It has been about 20 years since the euchromatic fraction of the human genome was sequenced, with the final 8% comprising the heterochromatic regions being decoded in 2022 (Nurk et al., 2022). Technology has advanced significantly in this time, allowing for the cost of sequencing an individual’s genome to drop from US$95 million in 2001 to as low as US$100 today. This has led to the commercialization of genomic information in some countries, making it easy and affordable for individuals to obtain information about their own bodies. Direct-to-consumer genetic testing (DTCGT) refers to the practice of allowing individuals to purchase and access genetic testing without necessarily requiring a referral from a healthcare provider. However, these products do not always adequately inform customers about the limits of the analysis or the collection of their personal information, raising ethical concerns. This Special Issue takes a wide-ranging exploration of several of the potential implications of (commercial) individual genome sequencing, looking at both the purported positive benefits as well as potentially negative effects.
On the positive side, DTCGT can make genetic testing more accessible and convenient for individuals. It can also empower people to take a more active role in their own healthcare by providing them with information about their genetic makeup that they can use to make informed decisions about their health. However, there are also some potential negative implications of DTCGT. For example, because these tests are not always performed or interpreted by trained healthcare professionals, there is a risk of incorrect results or misinterpretation of the results. This can lead to unnecessary anxiety, or even harm, if people make important healthcare decisions based on inaccurate information. Additionally, because DTCGT is not always regulated in the same way as traditional genetic testing, there is also a risk of fraud or other unethical practices. Some companies may offer inaccurate or unproven tests, or use deceptive marketing practices to sell their products. Thus, by highlighting these areas of concern, the authors in this issue show that while DTCGT has the potential to make genetic testing more accessible and empower individuals to take control of their own healthcare, it is important for consumers to be cautious and thoroughly research the companies and tests they are considering.
Sugiura and Aruga (2018) find that Japan and the United States are the only two countries among the five they investigated (Japan, the United States, Germany, France, and the United Kingdom) that have no regulations concerning the use of DTCGT. Their research also showed that only 10% of DTCGT providers in Japan meet the voluntary standards on individual handling of genetic information established by the Council for Protection of Individual Genetic Information (CPIGI). Takada (2014) warns about the potential ethical problems that DTCGT can cause, such as the sale of information about the biological father of an unborn baby to a pregnant woman who had sexual relationships with multiple men about the same time.
The ancestry testing market is one of the largest globally, with nearly a dozen companies selling test packages in Japan alone. However, as Oota (2022) explains, the identification of ancestral habitation areas based on mitochondrial (mt) DNA, a common subject of ancestry testing, can only trace habitation in the maternal line among a vast number of ancestors. Furthermore, the habitation information is based on modern mtDNA, not the mtDNA of tens of thousands of years ago when the ancestors in question were living. This important distinction is not always adequately explained to customers, leading to a potential misunderstanding of the test results. The commercialization of such tests and the lack of proper explanation of their limitations raise concerns about their potential impact on society. Some may view these tests as pseudoscience, but historian Stocking (1968) argues against this term, stating that they were considered “science” in their respective historical contexts. This highlights the complex relationship between science and society and the need for careful examination of the social implications of scientific developments.
Abel and Frieman (2023) examine the global market for DTCGT and its effects on notions of identity, descent, kinship, and racial affiliation. They consider how amateur genetic genealogies, aided by advances in technology and the availability of DTC kits, are reshaping traditional ideas about identity and belonging. The authors review DTC kits from the United States, Europe, and elsewhere, and consider the ethnoracial discourse that these kits are creating. They discuss how genetic approaches are influencing and intertwining with previously held notions of race, identity, and belonging. The widespread use of genetic testing kits may not have significant effects on the individual knowledge gained by consumers about their personal genetic characteristics, as the kits often overstate their value in this area. However, the kits can be valuable in connecting people who may not have known about their mutual genetic relationships, such as relatives living in different parts of the world. The study is valuable not only for its thorough understanding of DTCGC, but also for its explanation of the role of home DNA testing in challenging current ideas about identity and the sociopolitical factors driving these changes.
In their research, Nagai et al. (2023) focus on DTCGT services available on websites in three major languages: English, Japanese, and Chinese. While there are many studies on individual markets, there is little comparative research on DTC services, especially in non-Western markets. The study examines differences in how academic societies respond to DTC testing, how genetic testing is explained and sold, and the focus on wellness, empowerment, (genetic) knowledge, families, beauty, etc. The researchers analyzed a total of 267 websites and found that English DTCGT websites tend to focus on empowerment by frequently using phrases like ‘know yourself’ for ancestry testing and health and well-being services. Chinese websites, on the other hand, are characterized by a focus on familism and meeting consumer demand for information related to disease risk and children’s talents. Japanese websites tend to appeal to services for attainable beauty goals. Interestingly, ancestry testing, which has a large market in English websites, appears to have little interest in Japan and China.
Marcon’s research (2023), like much of the research in this Special Issue, highlights the far-reaching implications of genetic technologies beyond their scientific applications. He focuses on the cultural, governmental, and legal aspects of genetic technologies and the relationship between public demand for these technologies and government regulation. The rapid growth of genetic testing in the last two decades has been paralleled by the growth of the internet and social media platforms such as YouTube and Reddit. These sites often play a role in shaping public interest in genetic testing, leading to online discussions and information gathering that can influence purchasing decisions. Macron’s research evaluates whether there is truly a ‘wisdom of the crowds’ in online discourse, or whether the voices of experts in government and academia are drowned out by the larger online community. By studying the influence of Reddit and YouTube on public demand for genetic testing, we can better understand how governments and regulatory bodies must constantly adapt to keep up with the rapid pace of development in this field, while also aligning with public values.
Sekiguchi’s study (2023) examines the use of ‘scientific racism’ in modern Japan, using the work of Toyohiko Kagawa, a Christian philanthropist, as a case study. Kagawa, like many other Japanese intellectuals at the time, accepted the ideas of criminology and biological evolution that were imported from the West. He was interested in how this scientific knowledge could be applied to his social work and to improving social policies in Japan. Kagawa’s work had a significant impact on the Burakumin, a subgroup of Japan’s lowest social class. Sekiguchi’s study not only provides an empirical examination of the use and misuse of science in relation to social discrimination in Japan, but also raises important questions about the intersection of humanitarianism and racism in certain social contexts, as well as the influence of the West on science and racism in Asia. This issue continues to be relevant today.
The purpose of this Special Issue is to explore the history of using genetics in social policies, and to examine the implications of DTCGT. The goal is to raise questions and start a discussion about the social impact of science. The use of genetics in social policies has a long and complex history. The early 20th century saw the rise of eugenics, a movement that aimed to improve the genetic quality of the human population through selective breeding and other measures. This movement was associated with a number of social policies, such as forced sterilization and other forms of discrimination based on genetic traits.
However, the use of genetics in social policies has evolved significantly since then. Today, genetics is increasingly being used in a range of fields, including healthcare, forensics, and agriculture, and is playing an important role in helping to advance our understanding of human biology and improve our ability to diagnose and treat diseases. At the same time, the use of genetics in social policy is still a contentious issue, and there are concerns about the potential for discrimination or misuse of genetic information. As such, there are often debates about the appropriate role of genetics in social policy and how to balance the potential benefits with the need to protect individual rights and privacy.
I would like to express my sincere appreciation to Lyle De Souza for his assistance and helpful suggestions. The publication of this special issue was funded by JSPS KAKENHI grant number 16H06320, ‘Integrated Research into the Processes and Mechanisms of Racialization.’
