Privacy vs. right to know

Presidential Commission on Bioethics debates genome sequencing

Lori Lesko
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WASHINGTON, D.C. – By the time Joe and Retta Beerys' twins,Noah and Alexis, were two years old, both had severe health issues and amisdiagnosis of cerebral palsy. After years of searching for answers andvisiting dozens of expensive medical specialists, Retta happened to read anewspaper article on a rare disorder affecting children—her own.
But after years of better health, when Alexis Beery turned13 in 2009, she developed breathing problems. In the span of two months, thegirl was rushed to a hospital emergency room seven times and given dailyinjections of adrenaline just to keep her air passageway open.
The Beerys then turned to genetic testing at the BaylorCollege of Medicine Human Genome Sequencing Center in Houston that helpeddetermine the twins carried mutations in a gene. The discovery led to newtreatment, and the siblings are now in good health. Alexis is playing soccerand is on her school's track team, and Noah is doing better in school. 
Retta Beery told her story before the PresidentialCommission on Bioethics' "Genes to Genomes: Collection, Use and Governance ofHuman Genome Sequence Data" meeting on Feb. 3. The meeting was chaired by AmyGutmann, president of the University of Pennsylvania. Beery also presented avideo of her daughter competing in the long jump.
"(At the Genome Sequencing Center) we had black-and-whiteevidence on what was going on with Noah and Alexis," Beery told the commission."We got the whole picture for the first time. We had a new path to follow."
During the question-and-answer period, commission memberLonnie Ali asked Beery whether she had worried about the consequences of goingpublic with the story of her family.
"This must have weighed on you as a mother, but howconcerned are you with these issues of privacy for these children as they tryto seek insurance coverage?" Ali asked.
Beery said she and her husband agreed that the benefit ofhelping others was more important than potential risks, adding, "We believethis saved Alexis' life, and … her life far outweighed the privacy issues."
A strong focal point for the commission's bioethical inquirywill be the fact that we now have more genetic information than we know what todo with. The scale of collected and available genetic data raises the bar onissues such as data protection, privacy, consent and counseling.
In addition, the increased volume of data amplifies thepotential for use and abuse for non-medical reasons. As part of Genes toGenomes, the commission plans to address how human sequence information iscollected and stored, what constitutes informed consent for genetic sequencingand when incidental findings and other results should be reported. The targetcompletion date for this project is mid-2012.
While the commission has no power to set policy or makelaws, it advises the president on bioethical issues that may emerge fromadvances in biomedicine and related areas of science and technology. Thecommission works with the goal of identifying and promoting policies andpractices that ensure scientific research, healthcare delivery andtechnological innovation are conducted in an ethically responsible manner.
Wrestling with ethical issues begat by the emergence ofwhole-genome sequencing as an addition to clinical care and genetic research,and the probability that genome sequencing tests will decrease to an affordable$1,000—compared to millions for a battery of diagnostic tests—makes the issuerelevant.
As the ethical questions mount amidst new tests, balancingthe scales of privacy and the right to know is a challenge.
"The scale of collected and available genetic data raisesthe bar on data protection, privacy, consent and counseling," wrote JohnDonnelly, author of the Presidential Commission blog. "The increased volume ofdata also increases the potential for use and abuse for non-medical reasons."
Within this topic, the commission is exploring issues thatinclude how information is collected and stored, what constitutes informedconsent and a host of intersecting privacy and access issues.
Commission members weighed in:
Jane Kaye, director of the Centre for Law, Health andEmerging Technologies at Oxford University, said, "I see whole-genomesequencing as another twist on things happening already on science. What weneed to do is make [privacy concerns] more nuanced and allow individuals to sayhow whole genomes are used."
George Annas, chair of Health Law, Bioethics & HumanRights at Boston University School of Public Health, responded, "This isfundamentally a reductionist (perspective), but the more we look at genes, theless we will look at the whole person and take the whole person into account."
Melissa Mourges, assistant district attorney and chief ofthe Forensic Sciences/Cold Cases Unit in the New York County DistrictAttorney's office, said DNA has been invaluable in solving crimes and(exonerating inmates falsely imprisoned.) The Combined DNA Index System(CODIS), which are forensic databases maintained by all 50 states and the FBI,keeps DNA profiles of all known offenders. She said the system doesn't allowfor identification of a suspect until there's a match in a case.
"We are never moving back with this technology," Mourgessaid. With DNA data, "we have evidence proving who done it—not beyond areasonable doubt—but beyond all doubt."
Daniel Masys, affiliate professor of Biomedical and HealthInformatics at the University of Washington School of Medicine, said, "Thegenome will tell the book of humanity, and as it is, we only understandone-third of the words. My major concern is that privacy not materially inhibitthe ability to decode that book and understand what that means. Our ability toacquire person-specific DNA data far exceeds our understanding of thisinformation. Genomics is the poster child for complexity in healthcare."
Gutmann voiced concern about the public's lack ofunderstanding around genetic testing.
"There are snake-oil salesmen out there for everything, andif you go on the web, you will likely find all kinds of offers" or claims aboutthe benefits of genetic testing, Gutmann said. "As a president of a university,I believe in not only getting more knowledge, but getting it out there to thepublic. But to what extent, given that science takes time to develop, is thereany concern about the amount of misinformation out there?"
Dr. Richard Gibbs, director of the Human Genome SequencingCenter at the Baylor College of Medicine, agreed.
"The slow pace of discovery that can transform lives isdramatically affecting … the distribution of this data." Gibbs said. "That is avastly higher risk than someone who may foolishly sign onto a snake-oilsalesman … but the danger of not knowing is also a risk."
The results of genetic testing are "uniquely private," Annassaid. "The most important part of genetic information is individual to you. Youcan look at your genome as your future diary. No one should open that diary withoutyour consent."
Mark Rothstein, the Herbert F. Boehl Chair in Health Law andMedicine at University of Louisville School of Medicine, asked, "Will genomicinformation increase health inequality? At the very least, genomic informationwill likely be used in ways we can't predict now."

Lori Lesko

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