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SACGHS to Form Task Force on Whole-Genome Sequencing

By Matt Jones

NEW YORK (GenomeWeb News) – The Secretary's Advisory Committee on Genetics, Health and Society is assembling a task force to tackle the medical issues brought on by the arrival of cheaper whole-genome sequencing, with a particular focus on what it means to patients and doctors.

The committee decided yesterday at a meeting in Washington, DC, to form a group to develop advice for the Secretary of the Department of Health and Human Services after several hours of discussion about whether whole-genome sequencing technologies are ready for real-world clinical practices.

SACGHS discussed a number of questions about whole-genome scans and potential problems they may pose to doctors as they swiftly become cheaper and more widespread, and as patients and doctors try to figure out what to do with the massive amounts of information they contain.

As Dietrich Stephan, president and CEO of the Ignite Institute for Individualized Medicine — and founder of direct-to-consumer genomics firm Navigenics — told the committee, the technologies are moving faster than Moore's Law now, and third- and fourth-generation sequencing tools are on the way.

Whole genomes have "incredible value" for medicine, Stephan said, "given that all human disease has a genetic component," and because it may enable doctors to predict risk of disease and enable medicine to understand the core biology of diseases.

"I think where we start to get concerned is how do we in the face of declining costs for human genome sequencing and an incredible body of data that can be applied to a human genome sequence … become comfortable with that type of information?" Stephan asked.

Greg Feero, who recently joined the National Human Genome Research Institute as senior advisor to the director of genomic medicine, told the committee that he has been wondering some of the same things.

"I just make the point that there is a push, I think, generally to try to get the latest and greatest technology out there in front of the healthcare provider and the patient. We have to be cautious about the push of getting this out into the environment," he said.

Feero has been focusing his gaze on a huge question that hangs over the personalized medicine field: what is the clinical utility of these new whole-genome tools in a medical system that is already taxed?

"I think that primary care in the US right now is under a tremendous amount of stress," Feero said. The solutions to the problems of primary care providers, he added, "don't rest in genomics," but instead "rest in the bread and butter things… like measuring blood pressure and glucose.

"There are folks in the primary care community who are actively questioning the value of expending money on genomics due to this lack of evident utility. We have to be cognizant of this in this group," he explained.

One speaker at yesterday's meeting who has dealt with genomic testing at the clinical level is Emily Edelman, a genetics counselor and project director of the National Coalition for Health Professional Education in Genetics.

Edelman rattled off for the SACGHS committee a daunting list of things that are needed to enable whole-genome tools to realize the promise that their supporters see in them.

"There are some gaps that we need to address, she said.

"We need affordable testing, of course. We need more information about clinical validity and utility for disease associations and SNP associations, and information about the ethical, legal, and social implications," said Edelman. "We need data interpretation systems and clinical decision support systems. We need someone to pay for this. We need professional societies to recognize change in practice and provide education, [and] we need informed and educated consumers, of course."

She sees clearly the applications for genomic information in the clinic, most notably in screening panels for specific conditions, in preventative health approaches, and through direct-to-consumer testing that can make someone aware of increased risk for diseases long before they develop. But she also sees the technology forging ahead into personalized medicine at a pace that the medical community cannot match, and more swiftly than its usefulness can be proven.

Richard Sharp, director of bioethics research at the Cleveland Clinic, reminded the committee that the days of the $3,000 genome are arriving and that the $1,000 genome is "on the horizon," and said that surveys conducted at Cleveland Clinic have suggested physicians are not prepared for this new type of medical information.

Most doctors involved in the survey, roughly 95 percent, said that they felt they need to learn more about genetics, and that their familiarity could benefit their patients, he said. Most said that new genetic findings were changing their practice and medicine in general. Only one out of four of the doctors involved, however, said that their baseline knowledge of genetics equipped them to "deal with the questions they were receiving day-to-day," he added.

The physicians who responded "were not comfortable explaining genetic test results and felt that formal training in genetics didn't meet their needs as physicians. I suspect we will not get any different results if we were to conduct this study at other medical centers," Sharp explained.

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