Abstract
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The British prime minister proudly proclaimed that the United Kingdom is “the first country in the world to use DNA codes in the mainstream of the health service,” commenting on the announcement that they will sequence 100,000 people with cancer and rare diseases (Cressey, 2012). These sequences will be available to doctors, scientists, and other healthcare professionals in the clinical care context. The initiative is funded by £100 million ($160 million) of taxpayer money, with a high return on investment expected. This program will train the next generation of scientists in using advanced knowledge of genomics, which the National Health Service (NHS) believes will position it to be the global leader in providing better care to its patients. The sequencing should commence by April 2014. The NHS estimates that it will take 3 to 5 years to sequence 100,000 whole genomes at “diagnostic quality.” The funding will also be used to train researchers in drug development and clinical use of genomic information. Furthermore, significant funding will be used to create the necessary information technology systems. Decisions about where to store the data and who will have access have not yet been made. The United Kingdom has some preeminent experts in identifiability, data sharing, and participant protections. The NHS is expected to consult with these individuals.
The Personal Genome Project of Canada is a collaborative effort with Harvard Medical School's Personal Genome Project. Canada's project plans to sequence the genomes of 100 individuals in 2013. The University of Toronto's McLaughlin Centre manages the project. It will also educate medical students, physicians, and healthcare workers. This important component seeks to help healthcare professionals understand and apply the new genomic data to benefit patients and families (Bodnar, 2012). All of the sequences will be deposited in the public domain, following the model of Harvard's Personal Genome Project.
Although one's genome is a critical factor in health and disease, epigenetic and other factors have an influence. Variation in the genome may indicate the presence or risk of disease, such as cancer. Other variations may be benign or have no effect that is discernible. Finally, a large amount of the variation in the genome is not yet elucidated; these are called variations of unknown significance.
For both the United Kingdom and Canada, sequencing the genomes may be the easiest part of the project. The interpretation of results will be the most important and most time-consuming component of these programs. Gaining understanding and knowledge about what the data mean is crucial. This will be accomplished only through collaborative, open sharing of data. All variation in the human genome should be freely available to anyone. This is what each individual contributes: variation. The information gleaned from the variations belongs to everyone collectively; particularly those who seek to make sense of it. Sorting out what matters and why it matters is essential to the integration of whole genome sequencing into clinical medicine.
The ability to share this information is essential to uncovering its utility. Protections for individuals who contribute their data are integral to testing and sharing that data. Although the United States has a law called the Genetic Information Nondiscrimination Act of 2008 (GINA), Canada has no such law. A group in Canada, the Canadian Coalition for Genetic Fairness (CCGF/CCEG, 2012), seeks to create comprehensive protections for all Canadian citizens. The Coalition for Genetic Fairness in the United States led the fight for GINA's passage for 12.5 years and is assisting its Canadian sister agency as it marches forward.
In the United Kingdom, the Human Genetics Commission issued a report in 2011 recommending that the country examine protections for individuals involved in genetic testing (Human Genetics Commission, 2011). There appears to be some discussion as to whether existing protections cover genetic discrimination.
Every day, more genomes are sequenced as we debate what should be shared and how, as well as who should be protected by what mechanisms. This raw material belongs to all of us, and we must find a way to share it while protecting the individuals who provide the information from discrimination. It is time for the companies, universities, and nonprofit foundations that do not currently share variation to provide it to public-access databases in forms and with protections in place that respect the privacy preferences of the individuals from whence it comes. It is immoral and unethical to do anything less.