It is interesting to note 'Currents in Contemporary Bioethics: The Case against Precipitous, Population-Wide, Whole-Genome Sequencing' by Mark Rothstein in 40(3) Journal of Law, Medicine and Ethics (2012) 682-689.
Rothstein comments that
Whole-genome sequencing has demonstrable value in elucidating the genetic etiology of rare disorders, in identifying atypical variants in common diseases, in determining pharmacogenomically appropriate drugs and dosages, in performing tumor genome sequencing, and in aiding other clinical applications for the diagnosis and treatment of individuals who are symptomatic or whose family health history places them at substantial risk. Undoubtedly, the clinical applications of wholegenome sequencing will increase in the future.
Whole-genome sequencing raises important ethical and policy issues, but there is little evidence that societal considerations will slow the pace of development, promotion, or use of new sequencing technology. For a variety of scientific, medical, and commercial reasons, scientists and entrepreneurs are determined to begin population-wide, wholegenome sequencing as soon as it is technically feasible and financially viable.
This article critically evaluates the headlong rush to perform population-wide, whole-genome sequencing. After considering the context and implications of whole-genome sequencing, the article concludes that, at the present time, the likely harms from population-wide, wholegenome sequencing greatly exceed the likely benefits.He highlights ten concerns about population-wide, whole-genome sequencing:
- 1. Lack of Clinical Utility
- 2. Lack of Test Regulation
- 3. Lack of Data Storage and Usage Protocols
- 4. Lack of Standards for Interpretation
- 5. Lack of Genetics Professionals
- 6. Lack of Population Health Literacy and Numeracy
- 7. Lack of Equitable Access to Genetic Services
- 8. Lack of Return on Investment
- 9. Lack of Health Privacy and Nondiscrimination Protections
- 10. Lack of Attention to Psycho-Social Harms and Long-Term Implications
The medical case for selective introduction of whole-genome sequencing into clinical settings is unassailable. For an expanding number of health conditions and clinical scenarios, whole-genome sequencing is appropriate and holds great promise for significantly improved health outcomes. Nevertheless, at the present time these factors do not militate in favor of population-wide, wholegenome sequencing for asymptomatic individuals. There is insufficient clinical utility and too many ethical, legal, and psycho-social risks.
Population-wide, whole-genome sequencing is not a scientific “manifest destiny.” Merely because it can be done does not mean that it ought to be done – or at least that it ought to be done now. Unconstrained scientific excitement and unabashed commercial exuberance notwithstanding, the heedless and premature wholegenome sequencing of asymptomatic individuals would be foolhardy and dangerous social policy. Moreover, unjustified genome sequencing would contravene medicine’s prime directive of primum non nocere, first do no harm.'Associational Privacy, the Presumption of Innocence, and 'Corruption of Blood' as Constitutional Metaphors in the Debate on 'Familial Searching'' (Penn State Law Research Paper No. 14-2013) by David H. Kaye
analyzes three constitutional claims about the emerging practice of trawling DNA databases for “near misses” to crime-scene samples that might reflect the fact that the DNA came from a first-degree relative of the nearly matching (but excluded) individual. These claims are that this type of “outer-directed” trawling (which casts suspicion on individual outside the database) is an infringement of constitutionally protected familial privacy, an affront to the presumption of innocence, and an unconstitutional “corruption of blood.” Upon inspection, the relevant constitutional provisions lend no more than metaphorical support to these objections to “familial searching.”
