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Consumer Genomics Leaders Talk Ethics and More at CSHL Meeting

COLD SPRING HARBOR, NY (GenomeWeb News) – Scientific leaders from three high-profile personalized genomics companies joined ethics and policy experts yesterday afternoon to discuss the ethical, legal, and social implications of direct-to-consumer genomic testing.
The event, part of Cold Spring Harbor Laboratory’s Biology of Genomes meeting, highlighted the current state of such tests and their implications for medicine and society. Dietrich Stephan, Co-founder and CSO of Navigenics; 23andMe Co-founder Linda Avey; and deCode President, CEO, and Director Kari Stefansson each presented an overview of their companies’ consumer genomics services before participating in the panel discussion and taking questions from researchers in attendance.
Francis Collins, director of the National Human Genome Research Institute, moderated the session. Also participating were Kathy Hudson, founder and director of the Genetics and Public Policy Center at Johns Hopkins University, and Joseph McInerney, executive director of the National Coalition for Health Professional Education in Genetics. Hudson presented information related to the oversight of genetic tests, while McInerney focused on physician education related to the tests.
As he kicked off the session, Collins lauded the recent passage of the Genetic Information and Non-discrimination Act, noting that it puts the field of genomic research “on much firmer footing.” Indeed, some speculate that the legislation will not only facilitate genomic research, but also personalized medicine and other genomic testing applications.
Still, the debate continues over whether direct-to-consumer genomic tests are a boon to society — providing individuals with a glimpse into their genetics — or a bane, representing a premature application of genetic data.
Not surprisingly, at Thursday’s session, those offering genomic tests were quick to point out the potential societal value of their services. For instance, citing factors such as rising health care costs, an aging population, and a surge in diseases such as diabetes, Navigenics’ Stephan highlighted the role of personalized genomics in preventative medicine. He proposed that the tests could increase early disease detection and decrease health burdens.
“In this generation, we need a solution,” Stephan said. “We cannot wait another generation.”
Stephan’s presentation also touched on issues that Navigenics has stressed in the past with respect to its Health Compass genomic testing service, such as its commitment to privacy, stringent curation of genetic associations, and guidelines related to test validity.
For her part, Avey presented the 23andMe genetic tests as a product with applications for health care and beyond. “23andMe looks at genetics very holistically,” she said.
She touched not only on the promise of genomic tests for diagnosing and treating diseases, but also on 23andMe’s pop culture applications. For example, Avey said, 23andMe provides "ancestry chromosome painting" to capitalize on the public’s appetite for genealogy. She also envisions links between genomic testing and social and/or health networking.
Stefansson, meanwhile, presented personalized genomic testing — such as DeCode’s deCODEme service — as a logical extension of the way health care has been developing over the past few years. As more and more patients seek answers online and elsewhere before seeing their physician, he noted, direct-to-consumer genomic tests could “empower people” by giving them more control over their health care. And, he said, the tests could become a jumping-off point for doctor-patient dialogues.
Like Stephan, Stefansson touted genomic tests as a tool for shifting away from conventional medicine and towards preventative medicine. He also highlighted his company’s commitment to operating with high specificity, accuracy, and consistency under strict standards.
But despite the individual companies’ voluntary standards and guidelines, Hudson said, the field in general could benefit from better regulation and oversight. Touching on many of the same concerns she and others have expressed in the past regarding regulatory oversight, privacy, and clinical validity, Hudson argued that more research is necessary to determine how the public will respond to genetic information.
For instance, she noted that although some companies voluntarily conform to standards such as the Health Insurance Portability and Accountability Act, they are not required to do so. That means the current oversight of genetic testing does not guarantee that appropriate standards are put in place.
To overcome such potential problems, Hudson suggested that the public and policymakers demand transparency from genomic testing companies, require third-party review of tests, take action against false claims, and modernize views and regulations of genetic tests.
Even so, Hudson expressed optimism over voluntary standards presented by company leaders at the session. “I’m happy to hear that the companies are supportive of raising the bar here,” Hudson said. She added, “In the absence of demonstrative harm,” individuals should have the option of getting their genetic information.
“There are a lot of reasons to be optimistic and hopeful [about personalized medicine],” Hudson said. “There’s a really, really strong appetite for health information, including genetic information.”
A great deal of discussion also centered on the role of primary care physicians and other health care professionals for applying information from genomic tests. The NCHPEG’s McInerney discussed the main challenges to genetics education for primary care physicians and the subsequent integration of genetics into primary care. He also introduced GeneFacts, a NCHPEG database aimed at providing a genetic support resource for non-geneticists.
Public interest in genetic and genomic testing may actually spur increased knowledge about such tests within the primary care community, McInerney speculated.
There were also hints that the personalized genomics companies may ultimately share information and strategies — at least in the early days of genomic test marketing and application.
In particular, Avey expressed interest in collaborating with Navigenics and DeCode on reporting information, predictions, and associations revealed by genomic tests, adding, “if we’re not standardized and we don’t have a consistent message, it’s going to confuse the [primary care] community.”

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