The Rising Popularity of Genetic Testing Service — Part II

Genetic testing service has caught its popularity train in recent years, major player like 23andMe is constantly grabbing the spotlight in the market of personalized medicine, a market which is worth more than 4 billion USD in 2017 and keep exponentially growing every year. Their services that are offered to us start from inheritance tracing up to diagnosing potential future disesess. All the information that we can get by sending our DNA through our saliva that’s going to be sent to the lab in a tube can be really interesting. But it also comes up with several problems.

The accuracy of DNA Testing

Like a prediction from a crystal ball, genetic test results are sometimes wrong. Some tests that predict the likelihood a young pregnant woman will have a child with a genetic condition such as Down syndrome may only be correct only 60 percent of the time. That means these tests may not undergo any independent review to make sure they accurately pick up the disease or genetic conditions they claim to be seeking.  In the USA the FDA has been wrestling for years with whether and how to do more. During the Obama administration, the agency proposed a new set of draft limits on a whole class of tests, and then put them on hold immediately after Donald Trump’s election. This spring, the FDA gave 23andMe permission to market genetic screenings for susceptibility to Alzheimer’s, Parkinson’s, and other conditions. It was the first time the agency blessed direct-to-consumer tests for genetic health risks. While the debate over genetic testing often follows a pattern familiar from countless other industries — business groups want less regulation, and consumer advocates favor more — it also raises more cosmic questions: Is a medical test just a piece of information? Or is it something more, if its result leads to dramatic or irreversible action such as chemotherapy or an abortion? And if a data point is factually suspect, or ripe for misinterpretation, when and how should it be offered to consumers. This field of study is still under heavy development. Personalized treatment of disease based of genome is still relatively expensive for most people, and still need many research before finally can be used for mass public. In doing so researcher need as much sample as possible to be able to do the research in developing this new emerging medical technology. 

Privacy concerns

At-home genetic testing companies have varying privacy policies. Typically, these policies require consent by customers to share personally identifiable data, but often allow the sale or sharing of anonymized DNA information, which has been stripped of names or other identifying information, or aggregate DNA information, which includes statistics like the percent of an ethnic group tested that has a particular disease risk. Anonymized DNA is not necessarily so anonymous, given that genes are, in essence, the most identifying information of all. A 2013 study published in the journal Science used two public genealogy databases and found that researchers could correctly uncover people's surnames from their genetic data alone between 12 and 18 percent of the time. If the researchers knew the customer's surname as well as their year of birth and state of residency, they could comb the databases and narrow down the possible number of genetic profiles that might be theirs to as few as a dozen. Revealing one target's identity in these genealogical databases also pinpointed their genetic relatives, another problem with genetic data: Your gene sequences are not yours alone. Exposure of one person's genetic information could potentially expose information about shared familial risks.

Genetic testing companies have relatively very small databases of ethnic groups who are present in small numbers in the United States. The accuracy of the tests for these groups, which include Korean-Americans, Vietnamese-Americans and Filipino-Americans, among others, may be skewed. Meanwhile, if one group is tested in detail, it may make it look like their risk for a particular disease is high, simply because the data exists for that ethnicity and not for others. This is the case for Ashkenazi Jewish women, who have been shown to be at the greatest risk for two types of breast cancer genes known as BRCA 1 and BRCA 2. But that's partly because Ashkenazi DNA has been investigated in detail, thanks to their unique ancestry. It's possible other ethnic groups have a higher risk and simply haven't been tested in detail. In that sense, aggregate data collected by companies like 23andMe has the potential to mislead and even create a sort of "genetic stereotype,".

With that said, it’s always wise to read the TOS of the company that provides you with the service regarding of privacy concern with genetic testing. 23andMe uses term databanking to describe their right to store your saliva sample or the DNA extracted from it up to 10 years for reserach porpouse. It’s clearly written in their TOS, but as we all know, majority of people never read them.

That 2 major problems with genetic-testing service can sparks several issues along the development of genetic-based technology, so is there any possible solution in dealing with them? We will uncover that in the next part of the article.