g o v e r n m e n t & policy Suk said. These research centers will use gene expression profiling data to understand the toxic effects of chemicals on human health and will create centralized public databases of gene expression profiling data, he said. Richard R. Sharp, a biomedical ethicist at NIEHS, pointed out that "a lot of genetic research really isn't a study of genetic diseases." In many cases, he explained, "genetics loads the gun, but the environment pulls the trigger"—in other words, the genes of an individual supply an underlying sensitivity or susceptibiliBette Hileman and about environmental effects on the ty, but the environment must interact human genome, he said. Also, it gives sci- with certain genes to produce disease. C&EN Washington There are several ways to apply genetentists the ability to inquire about and ic knowledge, Sharp said. For exhe progress made in the under- manipulate geample, doctors can personalize standing of human genetics has nomes, and "to their advice. 'They can say quit the potential to greatly improve intervene, intellismoking because you have some public health, but the use of this infor- gently or otherparticular genes that make it almation is also likely to lead to increased wise, in human most inevitable that smoking will challenges in courtrooms and legisla- biology," he exgive you lung cancer," he said. tures. This was the conclusion of Predictive genetic testing for speakers at a symposium last many diseases can be done right month convened by the National now, and doctors can order tests Research Council, bringing tofor genes that nearly always lead gether lawyers, judges, and researchers to explore societal to certain diseases and for other and legal conflicts that may arise genes that increase the odds of from the rapid explosion of acquiring certain diseases, he knowledge about the human noted. genome. Sharp asked whether, eventually, employers or insurance Specifically, experts pointed companies will single out certain out, public health advances enindividuals or groups who are abled by genetic knowledge may "at risk," for example, in regard be held back if the use of genetic data also leads to discriminato breast cancer. 'We are all at tion either in the workplace or risk for something," he said. Clockwise from above: in access to medical insurance. Sharp listed several quesOmenn, Drell, and Sharp Balancing the need to use genettions that society has not yet anic information to protect public health— plained. It allows swered on how it will deal with particularly when toxic chemical expo- individuals susgenetic information: sures are involved—with the need to ceptible to various • What obligations do emprotect the privacy of genetic informa- diseases to be ployers have to protect genetition will require careful crafting of laws identified and encally vulnerable workers? and public policies, the speakers said. • How should regulatory ables the design agencies handle risk assessments that "In federal legislation proposed so of intervention strategies. far, the emphasis is on protecting indi"Understanding the human genome differentiate risks according to the gevidual information," Gilbert S. Omenn can help in the understanding of com- netic profiles of subpopulations? • Do individuals have a moral duty to said. "There is nothing about public plex diseases," said William A. Suk, dihealth. This legislation could hamper rector of the Office of Program Develop- leave an area or a job if they know they preventive research." Omenn, who is ment at the National Institute of Envi- are especially susceptible to chemical executive vice president for medical af- ronmental Health Sciences (NIEHS). exposures there? fairs at the University of Michigan, sum- Examples of such disorders are cardio• Who should have access to informarized the meeting. vascular disease and stroke, noninsulin- mation about an individual's genes? As of spring 1998, said Paul A. Locke Daniel W. Drell of DOE's Office of Bi- dependent diabetes, and juvenile rheuological & Environmental Research dis- matoid arthritis, he said. They all re- of Johns Hopkins School of Public Health cussed some of the areas where genetic quire the interaction of multiple genes, and the Environmental Law Institute, 23 information has the potential to improve and some also involve infectious agents, states had passed laws prohibiting genetpublic health. 'The knowledge explosion he explained. ic discrimination by health insurers, and One of NIEHS's initiatives is to estab- 11 had passed laws prohibiting genetic in human genetics enables more knowledge about underlying human biology" lish several Toxicogenomics Centers, discrimination by employers, but none of
THE HUMAN GENOME MEETS THE LAW Laws must be carefully crafted to avoid genetic discrimination and to allow public health advances from genetic data
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According to Liem, electronic filing can improve the quality of records and raw data by elimination of rekeying and allowing for automated quality control. However, Liem cautioned, EPA's new electronic reporting rule will not authorize the conversion of data that now exist on paper into electronic form. Data on paper must continue to be stored in that format, she said, including paper records that have been faxed to EPA. Liem said some laboratories have scanned paper records into computers and store the data on compact disks. But in many cases where EPA has audited such electronic data, it could not be read, she said. In some cases, the originals had not been scanned properly or the writing on paper records was not distinct enough to scan well, she said. Related to electronic filing is the issue of electronic signatures. Huffer said EPA will issue a notice in February 2001 laying out which electronic reports and records must bear a person's digitized signature. Liem said a rule expected in June 2001 would establish requirements such as the date and time of signatures and security measures to prevent detachment of the signature from the electronic document it accompanies. To handle electronic reports, EPA is Paperless Regulators: EPA Prepares working with state environmental reguFor Electronic Reporting lators to design a central data exchange network. Huffer explained that a company would send a single electronic envirent EPA regulations that specify reFrom the ACS meeting ports must be mailed or delivered. ronmental report, such as wastewater n the next two years, companies and These existing provisions essentially discharge information, to the exchange. laboratories will be able to send prevent electronic submissions. The The system would verify electronic sigmany required reports to regulators new rule will allow—but will not force— natures, retain a record of the submisat the Environmental Protection Agency industry and states to file electronic re- sion, and distribute the data to appropriate state or EPA offices. ports to EPA, she said. with the touch of a button. This central data exchange eventualUnder the Government Paperwork EPA's goal is to propose the changes Elimination Act of 1998, every federal by late November, then revise them in ly would accept submissions for TRI, agency must provide electronic report- light of public comments. Afinalversion the National Pollution Discharge Elimiing by 2003 as an option for those it reg- of the rule is expected in the fall of 2001, nation System for wastewater, and risk management plans submitted under the ulates, EPA officials said at a sympo- Huffer said. sium presented by the Agrochemicals Electronic filing of information will Emergency Planning & Community Division at the 220th ACS national meet- offer benefits to businesses, EPA and Right-to-Know Act. In addition, compaing in Washington, D.C. This means state environmental regulators, and the nies could alsofilepremanufacture notibusinesses may choose to send elec- public, according to Huffer. Francisca fications for new chemicals electronicaltronic information instead of mailing, E. Liem, chief of EPA's Laboratory Data ly, along with the results of toxicology sending by messenger, or faxing paper Integrity Branch, said at the meeting tests on substances. copies of reports ranging from Toxics that electronic reporting probably will The central data exchange will acRelease Inventory (TRI) forms to data increase productivity in the government cept and translate among four data filed in accordance with EPA's good lab- and the private sector alike and will cut transmission formats: flat files, World oratory practices. expenses. Electronic reporting also is Wide Web forms, electronic data interEvi Huffer of EPA's Office of Envi- more convenient than submitting or change, and extensible markup lanronmental Information is cochairing a storing paper records, Liem said. Huffer guage (XML), according to an EPA fact group developing the agency's cross- said that, with electronic reporting, sheet. The agency plans to have the cenmedia electronic reporting and records companies will also have the opportuni- tral data exchange ready to accept some rule. She told symposium attendees that ty to streamline or to reengineer busi- reports in 2001. Cheryl Hogue the rule will change all portions of cur- ness processes. these laws are comprehensive. Also, Congress is considering legislation to prevent genetic discrimination in health insurance and employment. At present, the proposed federal legislation and the emerging science do not conflict directly, Locke said. But in the future, conflicts may arise. To derive the greatest public health benefit from genetic data, scientists will need to be able to create "libraries" of genetic information and to borrow information from other libraries, he explained. He urged Congress and lawyers to craft laws and regulations that are carefully tailored to address well-defined legal gaps and to balance individualrightswith the public health benefits that can come from information sharing. Susan R. Poulter, a professor at the University of Utah College of Law, discussed whether genetic testing in personal injury litigation is a path to causal certainty or a blind alley. If testing shows that an individual has a genetic susceptibility to certain toxics and other causes of the disease can be ruled out, then a clear cause-effect relationship may be shown between exposure and
disease, she said. But when these conditions are not met, it may be very hard to demonstrate a cause-effect relationship. The use of genetic information in the courtroom is making it even more difficult than it has been in the past for judges and juries to understand the evidence presented. However, some efforts are being made to address this problem. Franklin Zweig of the Einstein Institute for Science, Health & the Courts explained that about 16,000 of the 30,000 U.S. judges have attended seminars on biotechnology and case law at the institute. State laws, however, hamper the ability of juries to deal with complex scientific issues, he said. In many states, juries are not allowed to take notes or to ask questions to clarify issues. The symposium attendees agreed that biotechnology's potential to improve health may never be fully realized if the conflicts between privacy and information sharing cannot be resolved. Genetic data also have the potential to provide more definitive evidence in personal injury lawsuits, but this opportunity could be lost if judges and juries cannot understand the evidence.^
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