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Ensuring that the public has information adequate to making informed choices
about genetic testing is a prerequisite to realizing the public health benefi ts that have
been promised from genetic medicine. In order to get a better picture of the state of
the new DTC genetic testing industry, how it works, and what buyers expect from
these services, the National Human Genome Research Institute asked the Genetics
and Public Policy Center (GPPC) at Johns Hopkins University to conduct studies
under a grant awarded in 2008. The issues being studied relate particularly to the
ways in which offering genotyping tests and services directly to customers by com-
panies such as Decode Genetics, and 23andMe, differs from genetic testing offered
by healthcare providers. GPPC is analyzing the current regulations that cover mar-
keting, advertising, and selling of genetic testing directly to consumers, and trying
to evaluate the validity of the claims sellers make in their advertising by comparing
them to scientifi c literature. Another important question is how the utility of a DTC
test can be measured and if the presence of a genetic mutation that is linked with
levels of risk or predisposition toward an illness is usable. The researchers at GPPC
are also looking at how state laws attempting to cover this very new fi eld allow
some incoherence and lack of uniformity. The center also will conduct some legal
analysis that supports coordinated efforts to protect consumers. The study will not
be completed until sometime late in 2010.
According to a study by an international team of researchers from the UK, US,
Australia, Austria, and the Netherlands anticipatory governance is premature with-
out a better understanding of how SNP-based whole-genome information is used
by, and what it means to, a wide range of users (Prainsack et al. 2008 ). The authors
believe that DTC whole-genome tests should not necessarily be evaluated under the
same regulatory frameworks used for traditional genetics. Although they did not
advocate an unregulated genomics market, the authors urged regulators to wait until
information is available on the effects of such tests before introducing regulation.
For instance, the team noted that personal genomics is pushing the individualization
of responsibility for health one step further, without necessarily providing clear
information about how genetics ties into health and individual choices. Effective
responses to this situation require clarifi cation of the novel issues created by the
convergence of information about health, consumer and lifestyle choices, and gene-
alogy; novel relationships between geneticists, patients, consumers and corporate
executives; and the continued intensifi cation of collaboration, on both the research
and the patient/consumer sides. In spite of the criticism of DTC testing, there are
some positive aspects. A study has concluded that individuals who present to health
care providers with online DTC genetics information may be among the most moti-
vated to take steps toward healthier lifestyles (McBride et al. 2009 ). These motives
might be leveraged by health care providers to promote positive health outcomes.
In 2010, Walgreens postponed its plans to sell personal genetic test kits from
Pathway Genomics at its nationwide drug stores after the FDA intervened and
issued the following statement: “Pathway Genomics has moved outside of the cur-
rently sanctioned boundaries for lab-developed tests by marketing a product in a
retail store that asks consumers to collect a sample. These kits have not been proven
safe, effective or accurate and patients could be making medical decisions based on
22 Regulatory Aspects of Personalized Medicine