Personal Genetics Education Project

Several years ago, a small number of companies in the United States began selling DNA testing kits directly to consumers (referred to as DTC) via the internet. This market was made possible, in part, by the decreasing costs of genome analysis. In 2014, DTC testing generally does not produce a full genome sequence, like the Human Genome Project; rather, companies often look at sites in the genome that commonly differ between individuals, known as single nucleotide polymorphisms (SNPs). Companies offer a broad array of tests that report on a person’s ancestry and health, as well as a number of other traits. Examples range from a person’s ability to taste bitter flavors or the photic sneeze reflex (uncontrollable sneezing when exposed to bright light) to risk for developing heart disease or diabetes.

The DTC debate

Should people be able to access their genetic information directly from a company? This question is at the center of an on-going debate amongst doctors, patients, ethicists, politicians and regulatory bodies, such as the United States Food and Drug Administration (FDA). (This question is also the subject of pgEd’s lesson titled “Direct-to-consumer genetic testing.”) Some people with concerns about DTC testing think that people should only learn about their DNA from a doctor or genetic counselor to ensure that the results are clearly explained. Others argue that people should only learn about risks for disease that are “medically actionable,” i.e. when screening, therapeutics or a change in lifestyle may prevent or treat the disease. People who support DTC testing often find these views paternalistic and think that people have a right to learn about their own DNA if they choose, even if the information they learn is not medically actionable or if the interpretation might change over time.

Some of the original concerns about DTC genetic testing have subsided over the years, while others persist. It was originally thought that health insurers might use the results of a genetic test to deny coverage or raise premiums or that employers could fire people based on their genetic information (for more on this, see our page on what is genetic discrimination?). Some of these fears were allayed in 2008 when the United States Congress passed the Genetic Information Nondiscrimination Act (GINA), prohibiting these possibilities. Questions linger about the absence of protections for long-term care and life insurance as well as about the accuracy and usefulness of the tests. Still, many companies continue to report the growth of their customer base.

Regulating DTC testing?

It is an on-going question of whether DTC genetic testing kits should be considered medical devices. As medical devices, they would be subject to the extensive rules and regulations that oversee safety and quality. In 2010, the FDA held hearings to explore the issue of regulation of genetic testing kits. Though reputable companies use laboratories that have been certified under CLIA (Clinical Laboratory Improvement Amendments), the FDA had concerns about the accuracy of information and counseling given to consumers. The FDA sent letters to a number of companies, and, as a result, some companies left the market or shifted their strategy to require a physician to order the test. In 2013, the FDA ordered 23andMe, a DTC genetic testing company, to halt the sale of its product that returned health information to customers. In 2014, there are still a number of questions on the path forward for DTC testing.

Where does DTC testing stand in 2014? A number of companies still offer genetic analysis, for example to examine ancestry, via the internet without a medical professional’s involvement. Some companies will provide the raw data (in essence, the A’s, C’s, G’s, and T’s), leaving consumers to seek out interpretation on their own. Other companies are marketing health-related genetic tests to consumers, but require a physician to act as an intermediary. As companies close in on the goal of sequencing an entire human genome for $1,000 (US), the technology to analyze DNA continues to develop more rapidly than the frameworks for how to access and share this information. While the regulatory landscape for selling genetic testing kits continues to evolve, the general idea remains that genetic information could encourage some people to opt for earlier or more frequent medical screenings or adopt lifestyle changes to avoid a specific disease.

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Looking for more from pgEd? Check out our video series!

Thinking about exploring your own genetic make-up (whether or not you choose to get tested!) is highly personal. We asked some of our friends and colleagues to tell us about their experiences. Listen to their stories: