Mark A. Rothstein

Recommendations for Returning Genomic Incidental Findings? We Need to Talk!

The American College of Medical Genetics and Genomics recently issued recommendations for reporting incidental findings from clinical whole-genome sequencing and whole-exome sequencing. The recommendations call for evaluating a specific set of genes as part of all whole-genome sequencing/whole-exome sequencing and reporting all pathogenic variants irrespective of patient age. The genes are associated with highly penetrant disorders for which treatment or prevention is available. The effort to generate a list of genes with actionable findings is commendable, but the recommendations raise several concerns. They constitute a call for opportunistic screening, through intentional effort to identify pathogenic variants in specified genes unrelated to the clinical concern that prompted testing. Yet for most of the genes, we lack evidence about the predictive value of testing, genotype penetrance, spectrum of phenotypes, and efficacy of interventions in unselected populations. Furthermore, the recommendations do not allow patients to decline the additional findings, a position inconsistent with established norms. Finally, the recommendation to return adult-onset disease findings when children are tested is inconsistent with current professional consensus, including other policy statements of the American College of Medical Genetics and Genomics. Instead of premature practice recommendations, we call for robust dialogue among stakeholders to define a pathway to normatively sound, evidence-based guidelines.Genet Med 15 11, 854–859.Genetics in Medicine (2013); 15 11, 854–859. doi:10.1038/gim.2013.113

Is Deidentification Sufficient to Protect Health Privacy in Research

The revolution in health information technology has enabled the compilation and use of large data sets of health records for genomic and other research. Extensive collections of health records, especially those linked with biological specimens, are also extremely valuable for outcomes research, quality assurance, public health surveillance, and other beneficial purposes. The manipulation of large quantities of health information, however, creates substantial challenges for protecting the privacy of patients and research subjects. The strategy of choice for many health care providers and research institutions in dealing with this challenge has been to de-identify individual health information.

Ethical and Legal Implications of Pharmacogenomics

Pharmacogenomics is the application of genomics technology to the discovery and development of drugs. A greater understanding of the way in which individuals with a particular genotype respond to a drug allows manufacturers to identify population subgroups that will benefit most from a particular drug. The increasing emphasis on pharmacogenomics is likely to raise ethical and legal questions regarding, among other things, the design of research studies, the construction of clinical trials and the pricing of drugs.

Expanding the Ethical Analysis of Biobanks

Biobanks are repositories of human biological materials collected for biomedical research. There are over 300 million stored specimens in the United States, and the number grows by 20 million per year.1 In the post-genome world of high throughput gene sequencing and computational biology, biobanks hold the promise of facilitating large-scale research studies. New roganizational and operational models of research repositories also raise complex issues of big science, big business, and big ethical concerns.

Mandatory Extended Searches in All Genome Sequencing: “Incidental Findings,” Patient Autonomy, and Shared Decision Making

Should incidental findings discovered with whole-genome sequencing or testing be sought and reported to ordering clinicians and to patients (or their surrogates)? — NO.

Rethinking the meaning of public health.

Broad definitions of public health, including all societal factors that affect health, may undermine efforts to deal with traditional public health issues. A narrower and more practical definition involves public officials taking appropriate measures, pursuant to legal authority, after balancing public rights and private interests to protect the health of the public.

Confidentiality, privacy, and security of genetic and genomic test information in electronic health records: points to consider

As clinical genetics evolves, and we embark down the path toward more personalized and effective health care, the amount, detail, and complexity of genetic/genomic test information within the electronic health record will increase. This information should be appropriately protected to secure the trust of patients and to support interoperable electronic health information exchange. This article discusses characteristics of genetic/genomic test information, including predictive capability, immutability, and uniqueness, which should be considered when developing policies about information protection. Issues related to “genetic exceptionalism”; i.e., whether genetic/genomic test information should be treated differently from other medical information for purposes of data access and permissible use, are also considered. These discussions can help guide policy that will facilitate the biological and clinical resource development to support the introduction of this information into health care.

Currents in Contemporary Ethics

there have been no significant amendments to the Privacy Rule since 2003. It has been the view of many covered entities, regulators, and analysts that several provisions of the original Privacy Rule were unworkable or caused unintended consequences. There-fore, the recent rulemaking provided an opportunity to correct some long-identified problems and to integrate congressional directives under the HITECH Act and GINA into the Privacy, Security, Enforcement, and Breach Notification Rules.The amendments and the regula-tory explanations are long, techni-cal, and arcane. This article focuses on two important areas of the Pri-vacy Rule with significant changes: research and genetic information. It indicates how a number of the revi-sions have failed to resolve or have exacerbated problems under the Pri-vacy Rule.

Genetic exceptionalism & legislative pragmatism.

Can passing antidiscrimination laws ever be a bad idea? Yes, if broad policy reform is abandoned in favor of genetic-specific legislation. But in spite of its serious flaws, both in concept and in practice, genetic-specific legislation is sometimes worth passing anyway—sometimes a bad idea is reasonable.

Genetic Privacy and Confidentiality: Why They Are So Hard to Protect

Author notes that widespread concerns have been raised about protecting genetic privacy and confidentiality in insurance and employment. He argues that effective protections are difficult because complicated issues, such as the right of access to health care, are invariably implicated.