677technology suppliers Affymetrix and Illumina, which make the tools the testing
companies use. In 2008, Department of Health of the State of California, in an effort
to prevent consumer genetic testing companies from offering their services to the
state’s residents, sent letters to 13 fi rms saying they are violating state law. One
offense that genetic testing companies could commit would be to sell their products
to California citizens over the Internet without the request or counsel of a physician.
Another problem is that the companies’ tests have not been validated for accuracy
or for clinical utility, which is required under California law.
Need for Regulatory Oversight of DTC
Within the genetic testing system, there are still questions about science, access, reim-
bursement, coverage, and oversight. The Genetic Alliance, a nonprofi t health advo-
cacy organization committed to transforming health through genetics, has suggested
that informed decisions must be made on the basis of analytic and clinical validity,
clinical utility, and individual usefulness, as well as an understanding of oversight,
regulation, and reimbursement (Zonno and Terry 2009 ). Accurate, reliable, and vali-
dated information must be available to individuals and providers as they make deci-
sions about testing and the information gained through the testing process. To maintain
credibility and independence, a mandatory registry should be compiled and managed
by a federal regulatory body, such as the FDA. Education regarding basic genetics
and the testing process; professional society recommendations and guidelines, infor-
mation for patients and providers on risk or diagnosis; and referral networks for spe-
cialists, researchers, and disease-specifi c organizations could all be built into or linked
with the registry. Such a system would be transparent and coordinated with all stake-
holders and agencies to balances safety, innovation, ethical and social issues.
Greater regulation is required to oversee the accuracy and quality of direct-to-
consumer (DTC) genetic testing. Not doing so runs the risk of dangerously reassur-
ing some and needlessly aggravating the already worried. Certain state health
departments, e.g. that of New York, have indicated that genetic testing for disease
risk must be requested by a licensed healthcare professional and must be performed
in an approved clinical laboratory. In 2010, Navigenics (acquired by Life
Technologies in 2012) received a license to offer its personal genomics services to
residents of New York State.
There are three important issues that consumer genomic testing needs to address
before it can become part of medical care:
- Analytic validity. A small error rate in sample can result in hundreds of misclas-
sifi ed variants for any individual patient. - Clinical validity. Many complex diseases are caused by multiple gene variants,
and interactions between variants and environmental factors, which are not
known yet. - Clinical utility. Few observational studies and almost no clinical trials demon-
strate the risks and benefi ts associated with screening for individual gene
variants.
Regulation of Direct-to-Consumer Genetic Testing