A 20-year, landmark study involving 10,000
participants, funded by a research group and three health-care and technology
companies, Navigenics, Affymetrix Inc. and Microsoft Corp., will study long-term
psychological reactions and behaviours of people undergoing genetic testing. The
study which will be launched on Thursday will seek an answer to questions like:
“Do gene tests improve one’s lifestyle, or one’s health?” What do people do
after they learn their genetic risk levels of developing medical conditions
like diabetes, cancer, or Alzheimer’s disease?” The research is designed to
find out if the testing changes individuals’ lifestyle habits and helps them to
eat better, quit smoking, or seek further medical evaluation and preventive
strategies.
The study is expected to cost $15 million
to $20 million in the first year, with the expense declining dramatically in
later years, said Dr. Eric Topol, the lead researcher at the Scripps
Translational Science Institute in La Jolla.
The study includes Scripps, Microsoft, Affymetrix of Santa Clara and
Navigenics, of Redwood City.
“Genome scans give people considerable
information about their DNA and risk of disease, yet questions have been raised
if these tests are ready for widespread public use,” Dr. Eric Topol said in a
statement. Kevin King, president of Affymetrix, said that the study represents
the largest opportunity for modern genetics “to move outside the laboratory and
directly to consumers.”
Participants will complete questionnaires about
their lifestyle habits at the beginning of the study before they receive
information on their genetic risks. They will receive a scan of their genome
and an analysis of their genetic risks for health conditions that may be changed
by lifestyle like diabetes, obesity, heart attack and some types of cancer.
Navigenics Inc. will analyze the DNA of up
to 10,000 Scripps Health hospital chain employees, family members and friends. Affymetrix
will run the genome scan and Navigenics will provide interpretation of the
results to the participants. The research will assess changes in lifestyle habits
over a 20-year period. Participants will be surveyed on the lifestyle changes
and health decisions they make after receiving information on their genetic
risks.
Scripps hopes to complete recruitment by
the end of this year and report the preliminary results as early as mid-2009.
Genetic testing identifies changes in
chromosomes, genes, or proteins. The human genome is believed to contain around
20,000-25,000 genes. It includes biochemical tests for the possible presence of
genetic diseases, or mutant form of the genes associated with an increased risk
of developing genetic disorders. When interpreting test results, healthcare
professionals consider a person’s medical history, family history, and the type
of genetic test that was done.
Direct-to-Consumer (DTC) genetic testing has
been controversial due to direct opposition within the scientific community. Earlier
this year, The California Department of Public Health ordered Navigenics and
several similar operators to stop doing business in California. The main reason was that the
company lacked a state laboratory licence. In August the company received a
licence. Critics of DTC testing argue against the risks involved and say that many
DTC testers make unsubstantiated claims. Without professional guidance,
consumers can potentially misinterpret genetic information and the benefits risks,
and limitations of a particular test.