679data from a test that has not been validated by the FDA”. In 2010, the FDA sent let-
ters to fi ve companies – 23andMe, Navigenics (acquired by Life Technologies in
2012), DeCODE Genetics, Illumina and Knome – notifying them that they must
submit their products for review or discuss with offi cials why their products do not
require FDA approval. In its letter to 23andMe, the FDA said it wants to prevent
consumers from being “misled by incorrect test results or unsupported clinical
interpretations.” However, the FDA did not say that such genetic testing services
should be taken off the market. The fi ve companies had mixed responses to the
FDA’s warning. 23andMe disagreed with the FDA’s decision, while Knome wel-
comed the FDA’s review. The FDA held a public meeting in 2010 to initiate a dia-
logue with stakeholders concerning the regulation of laboratory-developed tests.
Challenges faced by the introduction of personalized medicine include gaps in
the oversight of genetic testing (including regulation of companies providing test
interpretation services), ensuring that realistic claims are made in promotional
materials for genetic testing, determining the appropriate role of new genomic tech-
nologies in patient care, ensuring the privacy of patients’ genomic data, and improv-
ing insurance coverage and reimbursement for genetic services (Evans et al. 2010 ).
The Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS)
advises the US secretary of health and human services and on these issues. A 2008
SACGHS report identifi ed multiple regulatory gaps in the oversight of genetic test-
ing ( http://oba.od.nih.gov/oba ), and federal agencies have begun to address these
gaps. For example, investigations by the Federal Trade Commission (FTC) of
claims made by two nutrigenetics companies led to the discontinuation of the manu-
facturing and marketing of the MyCellf Program, which included a test kit and
consultation service. SACGHS is also preparing a report on the need for genetics
education for POC practitioners, public health offi cials, and consumers and has
begun to explore the implications of affordable whole-genome sequencing.
To ensure that rapidly evolving genomic technologies are responsibly utilized
and that their promise is not oversold to the public, it will be important to advocate
for rigorous evaluations of the clinical validity and utility of genomic tests, as well
as for adequate regulation that simultaneously preserves innovation. Clinicians,
researchers, academics, the commercial sector, and the government must work
together for realization of the remarkable potential of personalized medicine.
The European Society of Human Genetics (ESHG) believes that regulations are
needed to prevent DTC predictive genomic services without well-reviewed clinical
validity and utility from making it into the market or into clinical practice. It has
developed the following policy on advertising and provision of predictive genetic
tests by such DTC companies (European Society of Human Genetics 2010 ):
- Clinical utility of a genetic test shall be an essential criterion for deciding to offer
this test to a person or a group of persons. - Laboratories providing genetic tests should comply with accepted quality stan-
dards, including those regarding laboratory personnel qualifi cations. - Information about the purpose and appropriateness of testing should be given
before the test is done.
Regulation of Direct-to-Consumer Genetic Testing