The Primary Value of DTC Genetic Testing in Disease Risk Lies in Awareness and Attention: An Overview and Product Insights

The journey to understand human DNA has been exceptionally arduous. Peas in a monastery garden, fruit flies too small to be seen clearly by the naked eye, and even bacteria found in human feces have all been utilized to study the characteristics of DNA. It was not until 2003, after a decade of collaborative efforts by scientists worldwide and an expenditure of $3 billion, that the Human Genome Project was completed, successfully sequencing the three billion base pairs of the human genome.

Since then, DNA research has entered a fast lane, with leapfrog advances in sequence determination; the reduction in sequencing costs has surpassed the famous Moore’s Law. Today, the complete sequence of 3 billion base pairs can be obtained in just half a day for only a few hundred dollars.

China has a clear advantage in sequencing, with more than half of the world’s sequencing capacity located in China.

Currently, consumer-grade genetic testing generally includes four aspects:

1) Personality traits, such as alcohol tolerance and exercise characteristics;

2) Disease risk: This can alert examinees to pay special attention to certain diseases, adjust existing disease prevention plans under the guidance of professionals, and establish personalized prevention plans;

3) Detect potential genetic diseases, including recessive carriers, to gain a better understanding of your body;

4) Identify individual responses to specific medications, establish personalized precision medication regimens, and assist physicians in selecting the most suitable drugs for each patient;

5) Ancestral Origin Analysis.

The rapid rise of consumer-grade genetic testing in China has drawn significant public attention. However, like any emerging field, it faces various challenges in its early stages. I would like to discuss how to approach consumer-grade genetic testing with scientific rigor and rationality, how to benefit from this new technological advancement, and what scientific, ethical, and social issues deserve our attention.

First, we must understand the role of genes. Genes serve merely as the blueprint for an individual’s physiological activities, representing internal factors. In reality, however, each person’s physiological processes are influenced by numerous external factors. This is akin to automobile manufacturing: from the design blueprint to final assembly and rollout, the vehicle undergoes a series of complex production and assembly steps. Any stage in this process can impact the final product, potentially resulting in defective units. In the context of human health, such defects correspond to disease.

In May 2018, the prestigious journals Science and Cell published multiple articles demonstrating that, compared with those in young individuals, immune cells in older adults carry a greater burden of DNA modifications, and that these differences are primarily attributable to environmental factors.

When interpreting the genetic results of consumer-grade genetic testing, we cannot ignore the impact of the environment on human physiological activities. For each result of the genetic test, the testing institution must inform the subject about the relationship between genetic factors and the environment.

Some genetic diseases are determined entirely by genetic factors, and test results can directly tell us whether we have the disease or are recessive carriers. In consumer-grade genetic testing, many of the diseases involved do not have such a direct relationship; the test result is just one of many contributing factors to the onset of the disease, which is known as multifactorial etiology.

Many common diseases are multifactorial in etiology, with environmental factors being the most significant variable. For instance, in lung cancer, environmental factors such as smoking, air pollution, and kitchen oil fumes are far more important than the results of genetic testing (hereditary factors).

The greatest value of consumer-grade genetic testing in predicting disease risk lies in enhancing individuals’ awareness and attention toward certain diseases., under the consultation and guidance of professionals, adjust existing preventive measures to develop a personalized disease prevention plan.

Taking lung cancer as an example, if individuals are aware that their risk of developing lung cancer is higher than that of the general population, should they adopt a more stringent approach to smoking cessation and translate this intention into immediate action?

“Knowledge is power” cannot be interpreted simplistically, as knowledge only becomes powerful when translated into action.Utilizing knowledge obtained from genetic testing to gradually modify the examinee’s lifestyle represents a scientific and beneficial approach.

Any overinterpretation, or even misinterpretation, should be avoided. Certain human traits that are almost entirely shaped by environmental factors during upbringing—such as so-called innate talent and genius, puppy love, internet addiction, and romantic relationships—have recently been questioned and criticized by authoritative media outlets, including the People’s Daily, warranting public attention.

In the field of ancestral analysis, Western countries have achieved a relatively mature level of research by leveraging genetic technologies, whereas China’s current data remain incomplete. Although the Han Chinese constitute the vast majority of the population, historical events such as the three major southward migrations of the Han people and the Upheaval of the Five Barbarians lend significant practical relevance to ancestral studies in China.

Secondly, we must understand the difference between consumer-grade genetic testing and medical testing.. Medical testing is led by clinicians, serves as an indispensable tool in the diagnosis and treatment of diseases, and lies at the core of healthcare issues. Consumer-grade genetic testing cannot, nor should it, enter this core domain independently without the guidance of clinical professionals.

In other words, any outcomes related to diseases should be interpreted and managed under the guidance of professionals to prevent the general public from misunderstanding relevant diseases, which could lead to unnecessary psychological burden and erroneous behaviors.

For genetic testing, a rapidly emerging field, even seasoned clinicians face the challenge of keeping their knowledge up to date. As of May 2018, there were 75,000 genetic tests available worldwide, with the number increasing by 10 each day.

Even in the United States, where continuing medical education is relatively well implemented, only 14% of clinicians feel confident in interpreting these results and providing counseling.

It is certain that the rapid development of genetic testing will inevitably spur the growth of the emerging profession of genetic counselors. Certified genetic counselors, who have undergone specialized training, help individuals develop personalized fitness and disease-prevention strategies based on their genetic profiles and lifestyles. This approach is essential for ensuring the healthy and sustainable development of consumer-grade genetic testing.

Consultation and interpretation services for genetic testing products are in urgent need of development, not only in China but also globally. I believe that the rapidly advancing field of artificial intelligence (AI) is well-suited for gene interpretation applications. This is because the entirety of the human genome defines a fixed scope for AI application. Within this scope, the continuously expanding understanding of gene functions will provide vast and rich knowledge nodes, ultimately offering a powerful tool to consultation professionals and enhancing the value of genetic testing products.

The interpretation and counseling for consumer-grade genetic testing cannot be overstated. Blindly pursuing comprehensive and all-encompassing consumer-grade genetic testing products is not a wise strategy within the current scope of technology and understanding. For a considerable period, the interpretation and counseling of genetic products by professionals will remain a bottleneck in delivering value-added services within the genetic testing industry.

Nevertheless, I encourage everyone to embrace emerging consumer-grade genetic testing with a positive attitude, gain a deeper understanding of our own bodies under the guidance of professionals, and adopt a healthy lifestyle. In particular, the “All of Us” Precision Medicine Initiative, led by the U.S. National Institutes of Health (NIH), was officially launched in full on May 6, 2018, after three years of preparation. This research initiative, with a budget of $1.5 billion and a ten-year timeline, aims to collect and analyze genetic data and health information from one million participants. It will undoubtedly significantly enhance our understanding of genetic testing, standardize industry practices, and exert an immeasurable impact on consumer-grade genetic testing.