The idea of genetic testing is not new. Traditionally, only healthcare providers were responsible for the administration and interpretation of genetic tests. A number of companies have popped up as of late to provide DTC genetic tests without the involvement of healthcare providers. Among them, 23andMe is one that has gained media attention for its “one million customers” goal and investments from Google.

Since the human genome was sequenced back in 2000, genetic testing has been touted as the precursor to the ‘holy grail’ that is personalized medicine; however, whether these tests will live up to the hype is uncertain. While certain diagnostic genetic tests can be very informative, it is unclear whether sequencing the entire genome can provide additional useful information. Furthermore, the accuracy of these tests has been questioned, as illustrated by a recent New York Times article entitled “I Had My DNA Picture Taken, With Varying Results,” that examined genetic tests offered by three different companies (23and Me, Pathway Genomics, and Genetic Testing Laboratories) and found that results varied and were at times contradictory.

“DTC genetic testing may encourage a more general idea that genetics is destiny, and attendant promises that the results of genetic tests can be used to prevent a disease, without necessarily having the required scientific grounds to make such claims.”

The U.S. Food and Drug Administration (FDA) has also started to take notice. Concerned about marketing a product claiming to provide accurate genetic testing, the FDA served 23andMe with a letter demanding the company to immediately stop marketing its product and work with them to prove the validity and medical accuracy of its personal genome service.

The FDA letter raises the question of what happens when test results are not accurate. A false positive result (receiving incorrect information that you have a high risk of developing a certain disease), can lead to unnecessary burden on the medical system and the individual. Similarly, a false negative result (receiving information that you are not at risk of developing a disease that you actually are predisposed to), could stop individuals from taking required preventative measures.

Commenting on the marketing aspect of 23andMe and the FDA letter, Nicholas King, a professor at McGill who studies the effects of new medical technologies at the societal level, brought up two important issues related to genetic testing in an interview with The Daily. “First, companies sometimes use the genetic test as a means of marketing therapies or other products that are of questionable efficacy. Second, DTC genetic testing may encourage a more general idea that genetics is destiny, and attendant promises that the results of genetic tests can be used to prevent a disease, without necessarily having the required scientific grounds to make such claims. In both cases, the contribution of behavioural and environmental factors to health is downplayed or ignored.”

Genelink Biosciences, another direct-to-consumer genomics company, is advertising personalized nutritional supplements based on a person’s genetic profile to treat conditions such as diabetes, insomnia, and heart disease. The company was charged with false advertising by the Federal Trade Commission (FTC) due to the lack of scientific evidence to back up claims that its personalized supplements regimen could help the targeted medical problems.

“The FDA is not necessarily concerned about the medical rigour of the tests as much as their medical utility.”

Jennifer Fishman, an assistant professor in the Biomedical Ethics Unit at McGill – who has extensively studied and published on DTC genetic testing – thinks that the FDA may have involved micro-politics in this move. “The FDA is not necessarily concerned about the medical rigour of the tests as much as their medical utility. For a long time, 23andMe was able to skirt this FDA requirement by claiming they were providing recreational information. 23andMe then decided to change their tune, so to speak, and started marketing it as medical information and also went silent with the FDA.”

In fact, the FDA’s warning letter points out that 23andMe had regularly communicated with the FDA since its early years, but had recently stopped responding to its requests. Fishman believes that 23andMe is playing a tug of war with the FDA, stating the company claims that “new regulations and standards are needed because companies, like [23andMe], are offering a new kind of product, and they, therefore, believe that they shouldn’t be held to the current standards.”

The medical utility of the data provided by personal genetic tests continues to be ambiguous, and the question remains as to whether any of this data is actionable. Many companies offering similar services have come and gone, but 23andMe has held out. In its current state, the company does not provide any medical and health information. At best, it provides information about potential risks related to a person’s ancestry – yet new research is published every day that can change these risk scores.

“The general public receiving genetic test results is not necessarily in a position to critically assess the data. A person may be better served by having the information interpreted by trained physicians, much as they already analyze family history and a number of other factors. And, beyond this point, even if you know you have an elevated risk for a condition, will it lead to a change in your behaviour?” added Jonathan Kimmelman, professor in the Biomedical Ethics unit at McGill.

Research from the Scripps Research Institute in La Jolla, California, suggests that results don’t always affect behavioural changes. In a sample size of 2,037 people who took a personal genetics test, 74 per cent failed to make changes in their exercise or diet regimens three months later, even if the results suggested a change would be needed. This is not surprising considering that even though risk scores and percentages are individualized, the suggested routes to better health are not.

“The general public receiving genetic test results is not necessarily in a position to critically assess the data.”

It is important to point out that genetics is not destiny. While we know of approximately 2,000 actionable and highly predictive genetic associations, they are still considered to be rare. In most cases, a genetic screen can identify a mutation, which indicates an elevated risk for a disease within a given population. This does not mean possessing the mutation is deterministic; many individuals who possess never contract the disease.

The FDA’s action on 23andMe has raised interesting questions about the DTC genetic testing field. At times, companies such as 23andMe are needed to push regulators into looking more deeply into a certain matter. After receiving the letter, 23andMe promptly complied with the FDA and stopped marketing its product. The company also states that it is committed to working with the FDA to get its personal genetic test approved and to become a pioneer in the genetic revolution. A similar action by the FDA forced another player in the market, Pathway Genomics, to shift its model from DTC to marketing to physicians.

It remains to be seen whether DTC tests will continue to exist and if the genetic revolution will catch up to the hype. As genetics research progresses, it is possible that these tests will start to play a larger role within healthcare. For the moment, though they may not provide in-depth medical information, these tests can continue to be entertaining for those with a curious mind.

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Most of us remember Dolly, the world famous sheep, as the first mammal ever to be cloned. In research communities around the world, this achievement was applauded as a step forward in the name of science. To the population at large however, images of the man-made sheep served more as a catalyst for debate than an opportunity for progress.

Synthetic biology refers to an interdisciplinary field where engineering techniques are applied to the fundamental principles of biology to help solve real world problems such as energy production, food processes, climate change, and medicine. Although formal definitions of the term “synthetic biology” differ, The Organization for Economic Co-operation and Development (OECD) defines it as (1) the design and construction of new biological parts, devices, and systems, and (2) the re-design of existing, natural biological systems for useful purposes.

Breakthroughs such as Dolly and the more recent creation of man-made bacteria by Craig Venter, the first U.S. geneticist to sequence the human genome, have thrown synthetic biology under the public microscope. But this isn’t a first. Mankind has been genetically modifying plants and animals for a long time. Through farming and domesticating, we’ve encouraged the practice of selective breeding for thousands of years. Only recently has this process moved into the lab. Synthetic biologists have been able to enormously accelerate and influence the process of evolution by effectively taking genetic information associated with features deemed “useful” from one organism and encoding it to the DNA of another.

Ethical, social, and security concerns are an understandable response to this new ability to profoundly alter the building blocks of life. Rapid development of such a controversial technology has justifiably engendered a mixed response. The controversy surrounding the creation of life de novo in a petri dish has taken centre stage at many academic and government institutions in ongoing discussions over topics of intellectual property rights and regulation.

At the recent World Congress on Industrial Biotechnology in Montreal, talks centred on the potential utility of such applications while also addressing the perils of synthetically creating organisms in a lab. The conference, held annually, brings together academics, industry leaders, investors, and policy makers to discuss the current state of biotechnology.

Jason Kelly, one of the five MIT PhDs who founded the start-up Gingko Bioworks, presented the appealing concept of organic circuitry. Organisms can be structured in a way to essentially emulate the functionality of an electric circuit. At Gingko Bioworks, the organism is the product. Organic circuits in bacteria are developed to perform predefined tasks, much like circuits are on computer chips. Gingko’s artificially produced bacteria are presently used to produce biofuels from materials that are plant-based. The company is currently working on bacteria that can detect nitrogen levels in the air and destroy plastics in an environmentally conscious way.

To understand the basis of synthetic biology, we can make an analogy to the automobile industry: a car consists of various components that can be tinkered with to optimize the vehicle’s overall performance. An organism contains different genetic parts that too can be altered in an effort to optimize its performance. Right across the Charles River from Ginkgo sits the MIT’s Standard Registry of Parts, a continuously growing database of genetic functional units that can be mixed and matched to build organic components. Like in any engineering process, such a modular approach allows biologists to use predesigned components as building blocks for new synthetic devices and systems.

According to sources such as the United Nations, by 2050 the world population is estimated to surpass nine billion people. Our energy needs are estimated to surge up fivefold. If this were the case, the entire U.S. reserve of petroleum today would last a mere six months. With this in mind, Jim Lane, editor of Biofuels Digest suggested that the benefit of synthetic biology lies in engineering organisms to supply our growing energy needs.

Canada is onboard with the idea of using synthetic biology to meet our energy demands. As of 2012, the federal government committed nearly 25 million dollars over a period of five years through the National Centre of Excellence (NCE) program to support and accelerate research, development, and deployment of advanced biofuels through the BioFuelNet Canada. The NCE programs are government funded academically-led virtual research networks mandated to solve critical issues affecting Canadians. Don Smith, a professor in McGill’s faculty of Agricultural and Environmental Sciences, was elected to lead BiofuelNet Canada. He predicts that within 20 years, 25 per cent of the fuels in Canada will stem from biofuels. As a matter of fact, BioFuelNet recently signed an agreement with Airbus and Air Canada to develop biofuels solutions for the aviation industry.

Presenting a more cautious vision at the conference, Edward You – from the FBI’s Weapons of Mass Destruction (WMD) Directorate – expressed his concern in the infancy of the field of synthetic biology and the need for well-established regulations. You highlighted that without a proper governing system in place, the tendency for misconduct is too high. In a 2006 investigative story by The Guardian, a reporter was remarkably able to order parts of the smallpox DNA sequence and have them delivered to his house. In another case, a Harvard graduate student claimed to be able to produce LSD from simple microbes found in ordinary baker’s yeast.

‘Frightful must it be; for supremely frightful would be the effect of any human endeavor to mock the stupendous mechanism of the Creator of the world.’ Adversaries to synthetic biology fear that playing God, as in Mary Shelley’s Frankenstein, may have dire consequences. They argue that it is important to have a distinction between life and non-life, natural and artificial.

While the future of synthetic biology may not be entirely certain, advocates and pessimists will both have opportunities to voice their opinions. What cannot be denied however is the potential such technology has to further research in fields such as medicine, food processing, and energy production – subjects relevant to everyone.

The article previously mistakenly stated that Craig Venter is the geneticist behind the Human Genome Project. In fact, he was the first to sequence the human genome independent of the project. The Daily regrets the error.

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