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Responsibility in Personal Genomics

Making genomics useful to the consumer is proving a challenge.

By Allison Proffitt

May 19, 2009
| BOSTON—At the Bio-IT World Expo’s second annual plenary roundtable on The Future of Personal Genomics, the discussion centered on the present and future delivery of genomic information to the patient. With personal genomics companies reaching out to consumers, new questions are raised about communicating results to individuals.

Guest panelists were Robert Green, Boston University Schools of Medicine and Public Health; John Halamka, CIO, Harvard Medical School; Dietrich Stephan, co-founder, Navigenics; Jorge Conde, CEO, Knome; Philip Reilly, Third Rock Ventures; and Clifford Reid, CEO Complete Genomics. The panel was chaired by Bio•IT World editor-in-chief, Kevin Davies.

“We want to be these folks’ back offices,” said Reid, of the consumer genomics companies, “but they need to do analysis and counseling.” And that is proving almost as tricky as the sequencing itself.

Since early 2008, Knome has offered whole-genome sequencing to wealthy clients. The company is learning to deliver results face to face, said Conde. “There’s a lot we don’t know about the genome yet,” he admits. “How do we deliver this information in a responsible way, in a way that provides context and that can be digested by somebody or by individuals that aren’t trained geneticists?”

Conde assembles a team of genetic counselors, scientists, and doctors, flying clients to Boston to deliver results over a full day. “We want people to be able understand their own information. We don’t want to scare them. We don’t want to mislead them; and we want to do it in a way that we’re learning as well,” he said.

John Halamka has a foot in both camps, as both a guarantor of medical information and a founding volunteer (patient number two) in George Church’s Personal Genome Project. Halamka stressed that patients must understand probabilistic versus deterministic results. But this isn’t something doctors can do alone, he said. They need to be leveraging other experts.

Robert Green led the REVEAL trial, first empirical study of people’s reactions to genomic data. The findings suggested that people who test positive for the high-risk Alzheimer’s APOE4 variant buy more long-term disability insurance, more vitamins and supplements, and are subject to what he calls “flat out pseudoscience.” This data can be exploited, he warns.

However, Philip Reilly, a clinical geneticist, lamented the still woefully low numbers of genetic counselors in the U.S. Very few internists are competent to interpret and explain genetic data, he said, and what we know about linking genotype and phenotype is still “awful.” Consumers need “meaningful, low cost ways to respond to genetic information,” he challenged; otherwise, the data are of no use. Reilly advised against the word “predictive,” suggesting “risk assessment” as a substitute.

Green, who describes himself as the world’s oldest genetics resident, agreed. The public is consumed with low probability events, he said, and could overwhelm our current health systems. 

This article also appeared in the May-June 2009 issue of Bio-IT World Magazine.
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