ANALYSIS - "Direct-to-consumer genetic tests: beyond medical regulation?" D. Magnus, et al.

A "Commentary" paper that leads off with an abstract stating DTC test analysis is "uncertain because of the lack of information about environmental and other factors, and because for the vast majority of genetic loci the associations with disease are weak". This assessment is based on only one paper reference.

The introduction of the paper provides a brief description of DTC tests and asks if tests should be regulated. The Discussion section covers the current federal and state regulatory framework for genetic tests already in place including the 2008 California Dept. of Public Health's "cease and desist" letters.

The authors' opinion that the DTC companies arguments for offering tests directly to the public are "weak to indefensible" citing that while "People may indeed have a right to their genetic information, but it does not follow that we should not regulate the process to make sure that information is appropriately provided." They summarize that the second argument for public DTC is that the tests are "not really medical" and the third argument is "that patients deserve direct access to their health information without a physician intermediary." The authors state that "A physician working for a company selling tests is clearly not well situated to look after a patient's best interest".

The authors stretch to support this argument with, "To make matters more confusing, personal genomics could predict risks of very weak genetic associations while leaving out powerful predictive mutations" like in a rare form of breast cancer. But then the straw-man is revealed in their caveat, "But these are not tests offered through personal genomics services."

The authors then postulate that "California and New York states are right to create standards to protect their citizens from the risks of medical testing" which first of all, California did not create a "standard"; the California Dept. of Public Health arbitrarily sent "cease and desist" letters based on anonymous "letters of complaint". New York's law dates from 1996, and can hardly be suggested as standards created for the DTC-era since the law pre-dates it.

The authors acknowledge that physicians will need training. What the authors do not mention is what kind of impact such training will have upon the industry such as: will all physicians require training? Who will pay for the training? How long will such training take and will the DTC companies still be allowed to sell tests during this time frame? These and many more questions need answering before any legislation or standards are imposed.

UK - The Human Genetics Commission Principles and Consultation Questions

The Human Genetics Commission released today "A Common Framework of Principles for direct-to-consumer genetic testing services: Principles and Consultation Questions". A copy can be downloaded here.

The purpose of the document:

"promote high standards and consistency in the provision of direct-to-consumer genetic tests amongst commercial providers at an international level in order to protect the interests of people seeking genetic tests and their families. They will identify where individual companies and or national jurisdictions should have defined measures in place and the nature of those measures. " - pg 1

"The HGC is not a regulatory body. It hopes that these Principles will lead to the development of codes of practice that take account of existing regulatory structures where the need for additional regulation or legislation is revealed to be necessary."

Excerpt that references ancestry testing:

"Other tests can also provoke anxieties, such as ancestry tests that offer fundamental information about identity and ethnicity."

UK - House of Lords calls for gene testing "Code of Conduct"

BBC News' online article "Call for tougher gene test rules" states that,

"The House of Lords Science and Technology Committee said a code of conduct was needed to stop bogus claims being made. The report also said the tests, which predict the risk of disease later in life, needed to be more thoroughly reviewed before being marketed."

The article goes on to say,

"Health firms have already started to exploit the issue by offering genetic testing, which can give people an idea of the risk they face of getting a range of diseases from heart disease to Alzheimer's. The committee said it was concerned that unproven claims were being made and that individuals were not being offered the proper support and counselling to understand and cope with the results."

Unfortunately, the article does not state or cite examples of "exploitation" and any "unproven claims". However, it does state that NHS staff need additional training to meet the "increasing demands" of people worried about their test results. Again, the article is non-specific about just what the "demands" are and where the test results were obtained.

US - The Illusive Gold Standard in Genetic Ancestry Testing

"The Illusive Gold Standard in Genetic Ancestry Testing" published in the 3 Jul 2009 issue of Science Magazine calls for federal (US) regulation of genetic ancestry DNA testing. The authors are: Sandra Soo-Jin Lee, Deborah Bolnick, Troy Duster, Pilar Ossorio, and Kimberly Tallbear.

Dr. Blaine Bettinger provides an overview and critique on the article in his blog, "The Genetic Genealogist".

The article cites the American Society of Human Genetics' recommendations on ancestry testing but injects opinion as well with statements like, "...the false assumption that contemporary groups are reliable substitutes for ancestral populations..." and "...the lack of transparency regarding the statistical methods that companies use to determine test results".

The authors suggest that federal agencies should set industry standards and be responsible for accountability although they acknowledge that "how these regulations will be put in place is going to be a struggle between various parties that have shown little indication that there will be a compromise that will be acceptable to all."

Two press releases were issued as a result of the article: "Stanford Bioethicist and Colleagues Call for Federal Regulation of Genetic Ancestry Testing" and "Tougher controls sought for DNA ancestry testing" in which the latter cites the now defunct company, AncestrybyDNA.

History - ACMG Statement on Direct-to-Consumer Genetic Testing

Everything has a history.  The history of concern by academia over Direct-to-Consumer (DTC) genetic testing dates back to at least 2004 in which it manifested itself in a published statement from the American College of Medicine Genetics.  

The statement contains a mere 132 words, yet that is enough to convey their message: "Due to the complexities of genetic testing and counseling, the self-ordering of genetic tests by patients over the telephone or the Internet, and their use of genetic “home testing” kits, is potentially harmful.  Potential harms include inappropriate test utilization, misinterpretation of test results, lack of necessary follow-up, and other adverse consequences."

- ASMG Policy Statement - January/February 2004 Vol. 6 No. 1

As of 2009, it is unknown if their concerns have become a reality.  On the contrary, there are documented cases of patients using the tests for improving their healthcare decisions. Visit our "Success Stories" section to view such cases.