Researcher says personal genetic testing nearly viable

By: BRADLEY J. FIKES - Staff Writer | Thursday, October 11, 2007 12:06 PM PDT ∞

SAN DIEGO -- A test for individuals for nearly all known genetic diseases will cost just $1,000 in a few years, the leader of a massive genetic research project predicted Wednesday. However, this avalanche of knowledge may shock consumers and raise serious privacy concerns.

Genes are carriers of chemical information that guide how cells perform vital functions in the bodies of humans and all other life. Some genes powerfully influence the odds of getting a host of serious diseases, including cancer, heart disease and diabetes.

Recent advances in computer technology make a personal genetic readout feasible, said George M. Church, who heads the research project at Harvard Medical School.

Moreover, researchers have discovered that only about 1 percent of a person's vast genetic makeup is implicated in diseases, thus reducing the amount of data required.

So the ingredients are already in place to do a $1,000 readout, Church said Wednesday, but gathering the information to make sense of the readout will take some time.

In addition, the researchers are looking for 100,000 volunteers who will consent to having their genetic codes read.

The resulting data will help hone in on which genes make people susceptible to disease. And a personal readout is expected to enable doctors to advise lifestyle changes or prescribe medications to stave off sickness.

At the same time, experts caution that the U.S. must add thousands of counselors and technicians to help patients make sense of such testing.

In addition, critics worry that the information could be misused by employers and insurance companies, creating a genetic underclass.

Beth Givens, director of the Privacy Rights Clearinghouse in San Diego, said she would not want her genome read without government-run, universal health insurance.

"Insurance companies are looking for pre-existing conditions, and potential conditions, in order to make insurance decisions, either to reject insurance applications, or to increase insurance premiums," Givens said Wednesday.

A law banning such discrimination would help, but not go far enough to ease her concerns, she said.

Determining whether protecting private genetic information is possible is among the goals of the Personal Genome Project, Church said.

Successfully protecting privacy will reassure the public, but if patients find the information is used against them, people may reject this technology, he said.

"A Genetic Information Nondiscrimination Act would be nice," Church said referring to federal legislation that would ban insurers and employers from discriminating against those with genetic conditions.

The act was approved by the House of Representatives in April but has been held up in the Senate.

Church outlined his project at the Genomes, Medicine and the Environment conference held in San Diego.

The project is a successor to the Human Genome Project, a government effort that spent about $3 billion to decipher the human genetic code, or genome.

The code told scientists much about the differences between humans and other species but little about the genetic differences between human individuals.

Wednesday's conference was sponsored by the J. Craig Venter Institute, named after the maverick scientist whose own genome-reading effort tied the Human Genome Project in a race to break the code.

The Personal Genome Project, which is run by a volunteer army of researchers, will help scientists develop new drugs for gene-linked diseases, but is not likely to discover new serious genetic diseases, said Kathy Hudson, director of the Genetics & Public Policy Center at Johns Hopkins University.

The most serious genetic diseases produce obvious effects, she said, while more subtle problems go undetected.

"The genetic mutations that have strong effects, we already know about them," Hudson said in a telephone interview. "Now people are interested in what are the contributors to common complex diseases. It may be a number of genes interacting with one another and with environmental factors."

The genome consists of the 3 billion chemical "letters" that make up each of the 46 strands of DNA, known as chromosomes, found in each person. Humans get one of these chromosomes from each parent, making 23 pairs.

San Diego's Illumina Inc. and Applied Biosystems of Foster City are two companies developing the high-speed technology required for crunching such massive genetic information.

It's still unclear just how much average genetic variation exists among individuals, said Kevin McKernan, senior director of scientific operations at Applied Biosystems.

"We're still just getting a grasp on that," McKernan said during an interview at the conference.

McKernan said the task of finding variations was helped by research discussed at the convention that fully examined the differences between a person's maternal and paternal DNA.

"That really sets the stage for doing it on many more people," McKernan said. "We can do this on thousands of people, start doing it on sick people and on healthy people and see how much these differences contribute to clinical outcomes."

More information about the Personal Genome Project is available at http://arep.med.harvard.edu/PGP/.

-- Contact staff writer Bradley J. Fikes at (760) 739-6641 or bfikes@nctimes.com.

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