Mapping the Personal Genomics Landscape
Last week saw the first annual Genomes, Environments, Traits (GET) Conference, in Cambridge, Massachusetts. Timed to coincide with DNA Day 2010, the conference marked one decade since the publication of the draft consensus human genome sequence. The GET Conference was billed as “the last chance in history to collect everyone with a personal genome sequence on the same stage to share their experiences and discuss the important ways in which personal genomes will affect all of our lives in the coming years.” Not quite everyone with a public personal genome sequence attended – Craig Venter, Desmond Tutu, Glenn Close were all unavailable – but a majority of the genomic pioneers were in attendance and the GET Conference was a one-of-a-kind event.
For those who missed the GET Conference, several high quality recaps are available. The most detailed is A Day Among Genomes, by Carl Zimmer of Discover’s blog The Loom. More targeted reflections on the conference and related events come from Emily Singer of Technology Review summarzing key trends highlighted by the genome pioneers (Singer also has a related piece on the difficulties of understanding human genomes), David Dobbs of Neuron Culture on genomes, cool conferences, and what the hell to tell people about behavioral genes, and Turna Ray of Pharmacogenomics Reporter on the recent Myriad Genetics decision, and its impact on the business of patenting genes. If you’d like even more detail, the Twitter community provided real-time play-by-play.
While there’s no need for a further summary, the GET Conference does provide an occasion to look at the evolving personal genomics landscape in a more holistic fashion.
The Unexpected Impact of Genetics on the Business World
Recent advances in genetic science are remarkable. In 2003 the first full human genome was sequenced after 13 years of work at a cost of over $3 billion. Today, the cost to sequence any individual’s entire genome is approaching $1,000. Genetic tests for specific genes linked to cancer and other diseases exist today and many more are being developed. We hear of a new era of “personalized medicine” in which drugs and therapies will be prescribed based on the individual patient’s specific genes.
All of this may seem to have little direct relevance to companies outside of biotechnology. However, the development of genetic knowledge and technology already has spawned new laws, regulations and patent uncertainties that impact almost all businesses in some way.
Privacy and Nondiscrimination. The federal Genetic Information Nondiscrimination Act of 2008 (GINA) represents the most comprehensive effort to date to regulate the use of genetic information. GINA initially only prohibited health insurers and group health plans from using genetic information to deny coverage or set payment rates. Another section, which just became effective in November 2009, affects all private and public employers with more than 15 employees.
Genomic Privacy and Re-Identification Redux
New research published this week in the Proceedings of the National Academy of Sciences from Loukides et al. offers up a new method for preserving individual privacy while linking genomic and healthcare data. (“Anonymization of electronic medical records for validating genome-wide association studies.”) Daniel Cressey of Nature News and Katharine Gammon of Technology Review have concise (and free) summaries.
As we’ve written earlier (“Back to the Future: NIH to Revisit Genomic Data-Sharing Policy”), the ability to link – and to share – genotype and phenotype data (including medical records, particularly treatment and outcome data) will be essential to the development of the next generation of genomic research. One of the most common ways to link genotype and phenotype data is to combine genomic data with electronic medical records (EMRs). A particular patient’s EMR may contain everything from basic biographical information to family medical history to current diagnoses, including ICD codes. When it comes to associating genes with medical conditions, researchers rely on International Classification of Disease (ICD) codes to categorize individual patients by disease type and search for shared genetic variations that might play a causal role.
Cracking the Codes. Obviously identifying information (e.g., biographical information) is generally required to be removed pursuant to HIPAA regulations. ICD codes, however, are sometimes retained for purposes of genetic association research and, in some circumstances, a set of otherwise anonymous ICD codes pulled from an EMR can be traced backwards to identify the specific individual supplying the codes.
The Texas Newborn Bloodspot Saga has Reached a Sad – and Preventable – Conclusion
Contributed by Ann Waldo, Senior Counsel at Genetic Alliance.
In late February, the state of Texas incinerated 5.3 million newborn bloodspots.
The background – the Genomics Law Report has had several posts (here and here) about the ongoing situation involving 5.3 million newborn bloodspots in a state biorepository in Texas. Often referred to as “residual” bloodspots, these are the tiny dried bloodspots left over after states conduct mandatory screening for specified diseases. State practices regarding retention of the residual bloodspots vary widely, with some destroying them promptly and others storing them indefinitely. Where post-screening use of the bloodspots occurs, the most common use is for quality assurance and quality control of the screening tests. Some states also permit the release of small sets of bloodspots for research.
Any such research must be done in compliance with the federal Common Rule applicable to clinical research and HIPAA, the federal medical privacy law. To simplify these laws’ complex requirements – what researchers must do depends on whether the samples or information will be made available in an identifiable or de-identified form. If a researcher receives identifiable information, then informed consents, privacy authorizations, and Institutional Review Board (IRB) reviews are mandatory. If the researcher receives only de-identified samples or information, no parental consent or privacy authorizations are required, although some states, including Texas, still insist on IRB review.
