Advanced Sequencing Technologies: methods and goals
Sunday, 8 April 2012Posted by
Crystal
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Implications of sequencing human genomes
Although a thorough consideration of the ELSI implications of the PGP is available elsewhere59, we address a few additional issues here.
Clinical Pros & Cons. As discussed above, the PGP has the potential to impact patient care in a variety of ways, perhaps the most important of which is by informing diagnostics, prognostics, and risk assessment for rare and common diseases with genetic components. The extent of its usefulness will be a function of the number of genotypes that we can link to phenotypes. Causative mutations have already been discovered for hundreds of rare conditions60, and genetic risk factors have been defined for at least 10 common diseases15. ULCS technology can be expected to accelerate the rate of discovery. There are also potentially adverse consequences of having one’s genome sequenced. Most simply, it may provide more medical information about a patient than he wants to know or wants recorded in his medical record. Many patients will not want to know about late-onset diseases or genetically-influenced behavioral traits, both of which might require lifestyle changes to ameliorate59. Even if laws are passed preventing genomic information from negatively affecting insurability and employment62, such laws do not guarantee that one’s genomic information will never be misused. A debate may thus rise around the question of whether we should be sequencing whole genomes or restricting data collection or analysis to regions that would be informative to a specific patient’s situation59. This point seems especially salient with respect to the question of parental rights to sequence the genomes of their children, infants, embryos and fetuses, when the information may or may not be in the subject’s best interest59.
Legal & Ethical Considerations. With respect to individual subjects, the primary ethical and legal concerns revolve around three main issues59: ownership of one’s DNA and/or its informational content, what the information can be used for, and with whose consent. In Moore v. Reagents of the University of California, the court ruled that if a patient’s cells, removed in the course of medical treatment, were to be used for research, the patient’s informed consent was required. However, the court rejected the notion of property rights to the cells themselves, and informed consent does not imply a right to information derived from biological material itself59. Currently, approximately 15 to 20 states require informed consent for genetic testing63. More comprehensive protections are probably necessary, but ideally constructed with provisions such that biomedical progress is not impeded (see below). A second category of explicit legal concern is that of patent law. In the United States, Europe, and Japan, only portions of DNA that are non-obvious, useful and novel can be patented64. ULCS technologies will likely not be able to avoid resequencing of patented genes. Interesting legal issues arise around the question of patient’s rights to have analyzed (or self-analyze) their own DNA sequence versus corporate interests that presumably own the rights to that analysis59.
Policy & the Advancement of Science. Beyond vigorously protecting the rights of the individual, we must also consider the welfare of the public in regards to future advancements in biomedicine. While anonymous data has served the HGP and other biomedical studies well, the approach has limitations. Identity based genetic information adds significantly to functional genomic studies. Since there will be individuals willing to make their genome and phenome publicly available, how can comprehensive identifying genetic information be gathered and made available to the research community? A few examples of non-anonymous, voluntary public data sets exist. Craig Venter has published his own genome65. A comprehensive identifying set of computed tomography (ct), magnetic resonance (mr) and cryosection images (at 0.33 to 1 mm resolution) was made from the Joseph Jernigan shortly after his execution66. Another example is the EEG and neuroanatomy of Albert Einstein67. A variety of motivations ranging from altruism to "early adopter" technophilia may arise to encourage individuals to make their comprehensive identifying data public. What subset of increasingly standardized68 electronic medical records could such individuals make public? Could these eventually be used to augment expensive epidemiological studies69? Currently we have few or no examples of a publicly available human genome plus phenome70. A framework survey and forum for potential volunteers to discuss risks and benefits might be a crucial reality check at this point71. Will the response be tiny or will it be as resounding as the Public Library of Science, open source, and Free Software Foundation (FSF) 72?
Conclusions. Affordable, personal human genomes as a motivation for developing ULCS technology is a relatively new concept, one that is becoming viewed as possible only in the wake of the HGP. Given where the technologies stand today, and given where they need to be, we should endeavor to be conservative in making projections about when one or more of the ULCS contenders will actually deliver. At the same time, we need to recognize that there have been both a number of recent breakthroughs and broadening interest in this field. If the PGP is truly something that we want, then this seems like a good time-point to begin investing more resources in these technologies. ULCS has the potential to catalyze a revolution with respect to bringing genomics to every bedside. Simultaneously, there are clearly risks with respect to privacy and misuse of genetic information. In case the PGP does turn out to be right around the corner, we should begin thinking clearly about policy guidelines that balance patients’ interests in terms of confidentiality with patients’ interest in terms of better medicine.
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