This backgrounder examines some unanswered questions and ethical issues involved in the recent completion of a major phase of the Human Genome Project.
In the giddy atmosphere following this summer's announcement that two teams of scientists had produced a draft version of the human genome, medical science writers and their editors face two primary challenges.
First, they must place the achievement in the proper scientific perspective, making clear what the advance could mean while balancing that with what science does not yet know about the human genetic code. Second, they must continue to probe the myriad ethical questions that will evolve and mutate as this new knowledge of the human genome is put to use.
Both challenges have presented themselves prominently in the initial coverage of the mapping process, which culminated with the June 26 announcements by the publicly funded Human Genome Project and the private biotechnology company Celera Genomics.
In the ethics arena, reaction was swift and the press immediately made ethics a major part of the story. Perhaps the most prominent voices of reason on the day of the announcement were those of President Clinton and British Prime Minister Tony Blair.
"As we consider how to use the new discovery, we must also not retreat from our oldest and most cherished human values," Clinton said. "We must ensure that new genome science and its benefits will be directed toward making life better for all citizens of the world, never just a privileged few."
Clinton also warned about discrimination and privacy violations.
"Increasing knowledge of the human genome must never change the basic belief on which our ethics, our government, our society are founded. All of us are created equal (and) entitled to equal treatment under the law."
Blair spoke of the responsibility to use the new wisely. "We cannot resist change," he said, "but our job - indeed, our duty - is to make sense of change, to help people through it, to seize the massive opportunities for better health and a better quality of life and then, with equal vigor, to minimize the threats such developments pose."
In a Los Angeles Times story focusing on the ethical implications of mapping the genome, bioethics guru Art Caplan of the University of Pennsylvania called on Washington policymakers to keep pace with the scientists.
"It is an amazing scientific accomplishment," Caplan said. "But, sadly, the potential value of this monumental achievement may be delayed or even lost if we do not move public policy and the law forward to respond to what science has achieved."
Caplan went on to raise the specter of genetic testing on the dead as well as the living.
"Their relatives and descendants have interests," he said. "There may be personal or sensitive information that they do not want revealed, such as that they were adopted (or) that they were born out of wedlock..that they are prone to depression.
"The possibility of creating anxiety and panic is not hypothetical," Caplan said. "Are you Irish, Native American, Latvian or Korean, or do you have an ancestor who lived in Central Africa or Northern Iran? Then you need to be screened to see if you are at risk of cystic fibrosis, cancer, hives, depression or muscular dystrophy...
"There's nothing to protect stored genetic information from being looked at by third parties. There's no guarantee that counseling will always accompany testing. There's not enough personnel to do it. There's no training in law and in ethics for people in medical and in nursing schools who will be asked to interpret genetic information."
Some are concerned that insurers will use the new genetic information to discriminate against those who need medical coverage the most.
Mildred Cho, senior research scholar at Stanford University's Center for Biomedical Ethics notes that genes that are close together on chromosomes tend to be inherited together. …