Will the Genome Become the Source of Diagnostic Miracles or Potential Scams?
by Helen Wallace

Marketing of genetic susceptibility tests both via doctors and direct-to-consumers is growing in the USA and in Europe. Companies have a powerful financial incentive to sell not only genetic tests but associated advice and individually tailored products, including skin creams, supplements, medicines and foods (what they call “nutrigenomics”). 

However, strong associations between genes and susceptibility to common diseases found in early studies are typically not confirmed by larger, later ones. Most of these genetic tests will therefore be misleading and the associated products and advice are, at best, a waste of money. At worst, they may also be harmful to health.

Direct to Consumer Sales

Some companies are already selling genetic tests, either alone or combined with other products, mainly via the Internet or alternative healthcare providers. A common approach is to give advice on nutritional supplements based on genetic test results. US companies offering genetic susceptibility tests include DNA Direct, Genova Diagnostics, GeneLink, Interleukin Genetics, and Market America. NuGenix is an alliance between GeneLink and Garden State Nutritionals, to market nutritional supplements. In Canada, One Person Health also markets genetic tests with “customized vitamins.” A U.K. company called Sciona began marketing its genetic tests in the Body Shop in Britain in 2001. As a result of a campaign by GeneWatch UK and the Consumers’ Association, these tests have been withdrawn from shops in Britain and are now sold only via a small number of private alternative healthcare clinics.

The American College of Medical Genetics (ACMG) opposes direct-to-consumer sales of genetic tests. Many geneticists are concerned that these tests could do more harm than good and could also damage the public perception of genetics. They have criticized Sciona’s tests as meaningless, unethical, and irresponsible, and have called Genova Diagnostics’ “Genovations” tests “bad science and a bad idea.” Referring to both Sciona’s and GeneLink’s tests, an editorial in Nature Genetics states, “To call the predictive value of such tests uncertain and premature would be an understatement.”

Nevertheless, this type of marketing seems likely to expand, particularly in the United States, where customers appear to be less skeptical of such companies’ claims. Originally based in the U.K., Sciona has now relocated to the U.S., where it sold some 10,000 tests last year. The company has also recently received new venture capital investment from a major Dutch food ingredients company called DSM.

Last December, a U.K.-based company called G-Nostics launched a product called NicoTest, which it claimed identified a “nicotine addiction gene.” (See below) However, the association between this gene and nicotine addiction has not been proven. The company has also made misleading claims about the benefits of its genetic test as part of a smoking cessation program. 

G-Nostics is an offshoot of Oxford University. An Oxford University scientist is a member of its board. The pressure on universities to commercialize discoveries, and thus participate in our increasingly knowledge-based economy, led to the University marketing this test without any independent assessment of the evidence. As a result of a complaint by GeneWatch UK, G-Nostics’ claims of having identified a “nicotine addiction gene” and “significantly improving smokers’ quit rates” have been removed from the NicoTest web site. However, the company has recently employed a PR firm to expand its market.

The Pharmaceutical Industry and Pills for the Healthy Ill

The Swiss-based multinational, Roche, is the world leader in sales for medical tests and plans to market genetic tests for predispositions to common diseases, along with lifestyle advice or medicines. According to a video clip on Roche’s Web site, “Seven month-old Tiffany could one day benefit from Roche’s visionary approach to individualized healthcare… Roche is committed to integrating resources in the field of genetics and genomics to find new individualized solutions that address pre-dispositions long before an ailment even starts.” 

Increasingly, medication is being prescribed to reduce the ostensible risk of future illness. For example, statins, which aim to lower cholesterol levels, are now the biggest selling prescription drugs in the world. The former Chair of GlaxoSmithKline has predicted that by 2020 most treatment in developed countries will be “pre-symptomatic.” Terms, such as genetic “predisposition” or “susceptibility” are used to suggest a new way to identify “at risk” populations, that is, people who are currently well but are concerned about their future health. Adding this demographic would massively expand the market for preventive medication. 

However, genes are generally poor predictors of common diseases and this approach is likely to lead to many people receiving unnecessary and potentially harmful treatment. For example, Roche has a licensing agreement with the Icelandic biotech company, DeCODE, to discover and commercialize genetic tests. They plan to market a genetic test for risk of heart attack within two to three years. However, the published evidence for this test has been strongly criticized, and genetic tests developed by DeCODE in Iceland may be unreliable in populations in other parts of the world. 

Widespread genetic testing may also foster the misleading implication that only a minority of people with so-called “bad genes” need to eat a healthy diet or quit smoking. All people can benefit from this advice. In addition, many of the most popular genetic tests look for predispositions to diseases and disorders that are far more heavily influenced by environmental factors than by genes.

Lack of regulation

Independent assessments of the clinical validity, clinical utility and social consequences of genetic tests were recommended by the U.S. National Institute of Health’s Secretary’s Advisory Committee on Genetic Testing in 2000. However, in most cases there is still no such assessment. 

The U.S. Food and Drugs Administration (FDA) has the legal power to assess the clinical validity of genetic tests. However, in current practice, only tests that are sold as kits to multiple laboratories are assessed for clinical validity. Tests that are not supplied as kits, but provided as “clinical laboratory services” by individual labs, receive no such assessment. Most direct-to-consumer genetic tests currently on sale fall into this category. In addition, Roche and other companies are lobbying to stop the FDA from assessing the clinical validity of certain genetic test kits, with a proposal for a new category of test (the “in vitro analytical test”, or IVAT). If they succeed, misleading genetic test kits could be sold worldwide to a much bigger market. 

Since the FDA does not assess clinical utility, tests of limited diagnostic value can still end up in widespread use. An example is the FDA-approved Factor V Leiden genetic test kit, which aims to identify people who have inherited an increased risk of developing venous thrombosis, or blood clots in the veins of their legs and elsewhere. The test’s clinical validity is relatively well established; it is now one of the most commonly performed genetic tests in U.S. labs. However, the clinical utility of the test is limited because it is not clear that people with the mutations should be treated any differently than other people.

In the U.K., although the Human Genetics Commission has recommended that the Medicines and Healthcare Products Regulatory Agency should oversee clinical validity and utility for direct to consumer sales, the Government has not responded. Some assessments are now made for tests used in the National Health Service, but only for single gene disorders and screening programs, or in special cases when the test is referred to the National Institute for Clinical Excellence — as happened with the BRCA1 and BRCA2 tests for familial breast cancer. In the rest of Europe, however, there is no regulatory assessment of clinical validity or utility.


GeneWatch UK is campaigning for statutory regulation of genetic tests and an end to direct to consumer sales. Without proper regulation, the misleading marketing of genetic tests may soon increase exponentially and this corner of the knowledge-based economy will be based on advertising spin and not on fact. What will it mean for people’s health if the human genome becomes the basis of a massive marketing scam?

Helen M. Wallace, Ph.D. is Deputy Director of GeneWatch UK. GeneWatch UK aims to ensure genetic technologies are used in the public interest. Their work on human genetics includes campaigning for statutory regulation of genetic tests; legislation to prevent genetic discrimination; an end to patents on life and more public involvement in the research agenda.

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