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Genetic Testing

Gavin Hall

Nov 21st 2007 7:42AM Personally, I doubt that a test this extensive is necessary, but here is their explanation and a mention of some of the diseases.

The Google Inc.-backed company 23andMe on Monday started a Web-based
genetic testing service offering customers a $999 scan of their DNA,
including hints about their disease risks, clues to their ethnic
ancestry and possible explanations for habits that annoy their
relatives.

The private Mountain View startup, with funding from Internet
colossus Google and nearby biotech powerhouse Genentech Inc., is
part of a wave of companies that are starting to commercialize
information about the human genome for the general public. DeCode
Genetics of Iceland rolled out its $985 service, DeCodeme, on
Friday, and Navigenics of Redwood Shores plans to offer a test
costing about $2,500 early next year.

Customers will sign up online at 23andme.com and receive a saliva
test kit in the mail to send back. Four to six weeks later, they can
access their private report on the company Web site. It will show
how their genes might raise or lower their risk of heart attacks,
cancer, diabetes and other illnesses. The personal genetic profiles
also can be compared with those of relatives to create a family
tree, and might indicate, for example, which grandparent passed down
a tendency to stay up all night or fumble a football.

The company, whose name refers to the 23 pairs of chromosomes in the
human body, was founded 18 months ago by health care investor Anne
Wojcicki, wife of Google co-founder Sergey Brin, and Linda Avey, a
veteran of the biopharmaceutical industry. The idea was to make
personal genetic information accessible to ordinary people, and also
to work up a database of genetic patterns that could help
researchers develop treatments tailored to the individual.

The Web site contains a mix of interactive entertainment and medical
information, which the company plans to expand as the business
grows. Customers might see some risk signals that spur them to
overhaul their health habits, and they also can find out what kind
of earwax they have and why some foods taste strange to them.

"Our mission for the business was to make genetics fun and
interesting," Wojcicki said.

Parents can give consent to the testing of their children.

The new personal gene tests will not sequence the entire human
genome of 3 billion pairs of DNA subunits, because that would cost
as much as $1 million. Instead, the tests sample a limited number of
points along the genome that are known to vary among individuals.
The 23andMe scan covers 600,000 of these single points, called SNPs,
or single nucleotide polymorphisms. The testing will be done by
Illumina Inc. of San Diego.

Companies are leaping into the personal DNA market because the costs
are dropping for these gene scans, which use automated readers to
pick up patterns on gene microarrays, or "gene chips." At the same
time, the public is hearing more and more about individual traits
that can not only predispose people to disease, but also determine
how they respond to different medicines. Wojcicki and Avey said they
expect another onslaught of such studies to be published in 2008.

The partners said their choice of Illumina allowed them to handpick
the SNP's to search, concentrating on the immune system and common
diseases where multiple genes contribute to each person's overall
risk. In such diseases, genetics often contributes a small portion
of the total risk, and patients can help control their medical fates
through diet, exercise and other healthy practices.

Wojcicki and Avey said their initial aim is to support the business
on revenues from customer testing fees, but they also are
considering future partnerships with academic researchers or
nonprofit drug developers. A business partner might pay 23andMe a
fee, for example, to send e-mails to selected customers asking them
to fill out a health questionnaire or consider enrolling in a
clinical trial. The Mountain View company already is working with
groups representing those with Alzheimer's disease and Parkinson's
disease to build a patient base for studies of those illnesses.

Individual genetic information will never be sold, and online
security measures will protect the privacy of the information, the
partners said. These privacy safeguards might be key to the success
of such businesses, because concerns have long surrounded genetic
information that could expose patients to job discrimination or the
loss of their medical insurance. Congress has been weighing
legislation that would forbid discrimination based on genetic health
risks.

Theoretically, someone could obtain another person's DNA results by
mailing in a sample stolen from an unwitting victim. But Wojcicki
said that would be difficult at 23andMe, which uses a fairly
generous saliva sample rather than a cheek swab. "You can't
accidentally spit that much," she said.

Other concerns have been raised about the ethics and emotional
impact of gene scans offered by private companies. At universities
such as UCSF, tests for genetic susceptibility to cancer and other
serious diseases are preceded by counseling to help patients decide
whether they really want to know their risks, and what they would do
differently if they found out. The quandary is intensified in
illnesses such as Huntington's disease, a progressively debilitating
neurodegenerative disorder for which there is no cure.

Children under 18 are never tested for the Huntington's disease
gene, said Andrea Zanko, a UCSF genetic counselor. Only an adult can
decide whether to unveil that genetic risk or to share it with
family members, she said.

The 23andMe scan does not test for Huntington's disease and several
other genes that clearly indicate a high probability of breast
cancer, for example.

Navigenics plans to focus on 20 different disease areas where
customers have the power to prevent or delay a disorder, once armed
with the knowledge that they are vulnerable, said chief executive
Mari Baker. The company's service will include genetic counseling
and links to medical experts at the Mayo Clinic and other medical
centers, she said.

Andrea Zanko, a UCSF genetic counselor, said the gene tests might
prompt some people to seek medical advice and improve their health.
But customers have a lot to consider before they decide to get the
test or share their results with a wide range of friends and
relatives, she said.

Future research may reveal serious new risks associated with SNP
results that already have been broadly communicated, depriving the
individual of the power to share that information as he or she
wishes.

"It has to be up to the consumers to educate themselves about what
these companies are offering," she said.

Reading our genes
Customers of 23andMe can find out if their gene scan indicates the
probability of certain diseases or traits, including:

-- Heart attack

-- Stroke

-- Multiple sclerosis

-- Prostate cancer

-- Type 1 diabetes

-- Type 2 diabetes

-- Bitter taste perception

-- Crohn's disease

-- Lactose intolerance

-- Athletic ability

Obesity

Source: 23andMe

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