Testing Times in Era of DNA Mapping

By Dr. Zhao Yongqian, Research Assistant Professor of Division of Life Science, HKUST

A few weeks ago, the Department of Health advised the public not to purchase genetic mapping tests on their own because it is hard to ascertain their professional standard and quality after a political party openly accused eight firms offering such tests of exaggerating claims that they are able to identify children's talents and character traits.

Actually, genetic testing is rather novel in science, having only appeared less than a century ago.

As early as 1940s, scientists began to learn that genetic information about living things was carried by DNA.

Until 1975 when British scientist Frederick Sanger invented a DNA sequencing technology, "Sanger sequencing", humans recognized the nature of biological inheritance at the molecular level.

In the 1990s, an international team of scientists launched the Human Genome Project with the goal of sequencing the entire human DNA.

This not only broadened understanding of genes but also greatly advanced the maturity of gene sequencing technology.

Some doctors and biologists began experimenting with sequencing techniques to diagnose and study genetic diseases caused by mutations.

A genetic screen can potentially diagnose more than 1,200 genetic disorders and chromosomal abnormalities.

However, the public knew nothing about genetic tests, and did not care about the relationship between their genes and health until a company called Myriad published an advertisement in 2002 for a test service called BRAC Analysis for women with a family history of breast cancer.

It proved that if there were mutations in two specific genes, the incidence of breast cancer would increase from 10 percent to 87 percent at the age of 70.

Myriad's success quickly triggered an explosion of direct-to-consumer DNA testing services.

Items being tested have evolved from simple genetic risks to non-medical traits such as ancestral analysis, and even entertainment analyses such as skin slimming, personality and talent genes.

However, there are a lot of criticisms in the medical community about such DTC services without medical advice.

The lack of professionals who are proficient in medicine and genetics in the companies makes it difficult to interpret the data to ensure the quality and the test results may be easily misjudged.

Sequencing technology also brings a risk of privacy exposure that brings many ethical issues.

Even if the company has confidentiality provisions in place, there is no absolute data confidentiality in the information age.

Just like other new technologies, genetic sequencing is accompanied by the interweaving of science, law, ethics and business.

And at present, legal protection for our most sensitive private information is failing to catch up with the pace of developments in DNA testing technology worldwide.

For example, there is no law here restricting insurers from obtaining your DNA information in the underwriting process, which may discriminate against your preexisting genetic faults without your knowledge.

Furthermore, no one can guarantee the absolute safety of the DNA database of those testing companies from any cyberattacks. In a commercial world where truth and lies coexist, how to protect your rights while using technology may become a new homework for consumers.

The article was published on The Standard on June 5, 2019.