By Matt Jones
NEW YORK (GenomeWeb News) – The Presidential Commission for the Study of Bioethical Issues is reviewing some of the ethical, legal, and social implications (ELSI) of genomics and genetic testing technologies in research and in medicine, and may consider soon whether it will produce a report on these issues.
National Institutes of Health Director Francis Collins and several genomics and ELSI experts told the commission today that there are a number of critical areas that will need to be addressed as next-generation sequencing technologies and genomic science and clinical medicine filter into the society at large.
The commission released a report on synthetic biology in December, 2010, under President Barack Obama's orders. No such order has been made yet for a report on genetic testing and genomics, but the commission could decide that such a report is necessary.
Collins told the panel about ongoing ELSI research areas in genomics at the National Human Genome Research Institute, and explained that genomics-based innovations in personalized medicine, public health and policy, forensics, and other social areas, are spurring researchers to look ahead for potential pitfalls.
"ELSI was founded in part because of the very difficult history that connects genetics and medicine, and particularly the eugenics effort, which was not, as many people in the public assume, something that arose not out of Nazi Germany, but arose primarily in the US with the work of Charles Davenport and others," Collins explained.
"[It was] the science of improving the human race by better breeding — something that now makes us all cringe," he said.
Collins discussed a wide-ranging set of issues.
"Genetic discrimination, while we made great headway [with the Genetic Nondiscrimination Act of 2008] is not something that's completely over," he said.
Collins said that GINA does not cover all the areas "where genetic discrimination potentially could rear its head," such as in life insurance, long-term care issues, disability insurance, military service, and in court cases.
Another issue Collins sees is what to do with the "vast amount of data" coming from whole-exome and whole genome sequencing. The central questions are: Who decides whether doctors should tell patients about unintentional or ancillary information that arises from patients' genomic data, particularly when that information was not what was being screened for or studied?
Another "ripe" area for investigation that is not being looked at enough, Collins said, is forensic applications of DNA information.
While some uses of genetic information have become standard in forensic science, other possible uses are "expanding rapidly" in ways that have not yet been considered.
He said these issues include the surreptitious collection of DNA, DNA matching through relatives, guessing about ancestry and predicting physical appearance, using microbial analysis to predict an individual's recent travel, and assessing the presence of diseases.
"May I say that with many of these, part of the concern is whether these will be taken as more precise than they are... and therefore used to include or exclude suspects in ways that went outside of the science?" he added.
Collins said that one project aims to be able to "draw a likeness of the individual based upon increasing knowledge about genes and how they affect craniofacial anatomy."
"And then there's another side of this coin. Could people begin to use DNA information in the courts as a defense against criminal act?" Collins said, suggesting that genetic variants could be used to explain why some individuals predisposed to get into certain kinds of trouble.
"Technology has been such an enormous advance for us in terms of our ability to understand how life works and how sometimes disease occurs, but we have to keep in mind that that's not really the goal. The goal here is to benefit humanity. We must not allow our technology to exceed our humanity," Collins said, citing Albert Shweitzer.
Noting that there may turn out to be as many ELSI issues involved in genetics as there are base pairs in a human genome and that it is difficult to weed out just a few areas of focus, Stanford University bioethicist Hank Greely presented to the commission three primary issues that are coming to the foreground in medical genetics.
Greely, who is director of Stanford's Center for Law and Biosciences, told the commission that non-invasive prenatal diagnostic (NIPD) testing, clinical use of whole-genome sequencing, and genetic data and privacy policies, may be among the most important issues facing genomics research and genomic medicine.
Greely said that gene-based NIPDs that use fetal DNA found in the pregnant woman's bloodstream to test for single-gene diseases could become much more common in the next five years.
When such tests become more common, he said, "Issues will follow."
"The big controversies will revolve around abortion, will revolve around eugenics, and will revolve around disability rights and disabled communities.
Greely told GenomeWeb Daily News in an interview last month that how the public views the use of genetic NIPDs "may have to do with how widely they are used and how often they are used to test for Mendelian traits and specific characteristics, as compared with general fetal sex testing, which is already being done."
"There will be hard questions about what kind of tests one should allow; for serious diseases, for non-serious diseases, for sex," and for non-sex, non-disease traits, Greely told the council today.
He also suggested in the interview with GWDN that the "dramatic skewing" of live birth sex ratios in China and India brought about by cheap ultrasounds will become "more immediate and more important with widespread NIPD."
Whole-genome sequencing, as it becomes more commonly used in clinical settings, will try the resources of the healthcare system, Greely explained, in part because interpreting the results is difficult for doctor and patients and because the genetic counseling required will be costly and time-intensive.
"WGS will raise big questions with accuracy... and questions of the accuracy of the analysis of the interpretation," he said.
"Who decides which variations mean what level of risk? That's going to be an enormous problem and very difficult for us to figure out a useful medical and social way for us to deal with," he continued.
Greely said that when it comes to the "vast numbers" of people, gene sequences, genotypes and clinical data that is needed for genomics research there are important questions about privacy.
"Who all has access to this [data]?"
Greely said that the current model for handling genomics research data is the worst possible model, with the potential issues relating to the identification of subjects and patients, to the consent of both groups, and incidental findings that present issues to researchers about whether those findings should be shared with patients.
"What we are doing now, I think, in some ways is the worst of all worlds. We are using data broadly when people don't understand that it is being used broadly," Greely explained.
The National Human Genome Research Institute's ELSI program has identified seven central "Grand Challenges" confronting genomics that it is currently supporting research to explore.
These include: intellectual property issues surrounding access to and the use of genetic information; factors that influence the translation of genetic information to improve human health; issues surrounding the conduct of genetic research; issues surrounding the use of genetic information and technologies in non-healthcare settings; the impact of genomics on concepts of race, ethnicity, kinship and identity; implications of uncovering genomic contributions to human traits and behaviors; and how different individuals, cultures, and religions see the ethical boundaries for using genomics.