As a U.S. presidential panel studies the ethical issues associated with whole-genome sequencing in clinical care, it may do well to look across the Atlantic at the U.K. The Wellcome Trust Sanger Institute and research partners have a two-prong survey under way involving healthcare professionals and patients. The five-year Genome Ethics survey is designed to gather empirical data that helps guide policy decision-making on whole-genome research studies.
The partners have launched an online questionnaire and will select 50 respondents for an in-depth interview. The project is being conducted through 2015. One important question the Sanger Institute and its partners hope to answer is how researchers and others share results from genome studies. Also, in studying the genetic basis of one disease, should researchers divulge information they may uncover regarding another disease? And if so, to whom should that knowledge be limited?
The survey is being conducted by Michael Parker, professor of bioethics and director of The Ethox Centre at the University of Oxford, and Anna Middleton, Ph.D., a research associate at Ethox Centre and a registered genetic counselor and ethics researcher at Sanger Institute. The survey is part of the broader Deciphering Developmental Disorders (DDD) Study, a collaboration between Sanger and the U.K.’s 23 regional clinical genetics centers.
Sharing and Understanding Data
The study aims to inform clinicians and researchers seeking answers for what to do with the additional clinical data they may find beyond the gene deletion or mutation behind a given developmental disability, Professor Parker told GEN. “Our view in the past was, ‘Well, it was possible for researchers just to say researching and clinical practice are separate, and we’re not going to take on any clinical responsibilities.
“But in the era of genomics, that seems less credible as a physician,” Professor Parker noted. “The question is, ‘What would be a reasonable position to adopt?’ It surely can’t be the case that you’d get nothing back. But also it surely can’t be the case that you’d just give raw data. You’re supposed to give all the data back to clinicians. So some judgment is going to be required.”
That judgment, Professor Parker and others in the DDD project agreed, should begin with learning how patients and their families plus health professionals, researchers, and members of the public would like to see genetic data managed. Hence the quantitative survey and follow-up interviews.
Among challenges is also the absence of a central repository for genetic data, Philippa Brice, Ph.D., a spokeswoman for the PHG Foundation, told GEN. Typically, she noted, different health trusts use locally developed systems. The National Health Service’s (NHS’) Regional Genetic Services traditionally use family-based health records, but the electronic systems between centers are often poorly interoperable.
“Clinical genetics may involve sending data between centers if different family members are seen by different clinics. There are a number of competing, commercially available pedigree drawing systems available and not necessarily uniformity between centers. There was—and probably continues to be—a problem with insufficient bandwidth and IT support for data transfer,” Dr. Brice said.
Even with optimal bandwidth, few clinicians have the skills to interpret genetic data. PHG sought to address that need in a report released last October. Next Steps in the Sequence emphasized the necessity for suitable clinical bioinformatics support and education, possibly as a whole new healthcare subprofession. “This may best be achieved through the establishment of a National Biomedical Informatics Institute, in addition to employing bioinformaticians embedded in local clinical services,” the report stated.
The institute, according to the report, would build and maintain the evidence base needed to allow clinical interpretation of genome-wide sequence data, with standardized databases of normal and pathogenic genomic variation as well as linked analytical tools. “In practice, at present, these skills are locally developed within centers of excellence,” Dr. Brice pointed out.
“Healthcare providers generally lack the expertise for accurate interpretation of genomic data, and implementation of these technologies within clinical settings will require support and education,” he added. “Decisional support systems could be used to filter out results on the basis of their relevance and clinical utility.” But there needs to be a consensus on how interpretation is done before clinicians start evaluating data, Dr. Brice asserted.
New educational standards in genomics for the NHS and public health workforce are among recommendations offered in January by the Human Genomics Strategy Group (HGSG) toward “a more informed and intelligent application of genomics and genetics.” Other suggestions included a government strategy for long-term adoption of genomic technology in the NHS; development of a bioinformatics platform and a service to store genomic and phenotypic patient data; and a “hub and spoke” system for delivering genomic services with the NHS Commissioning Board as its hub.
Back in 2009, the House of Lords Science and Technology Committee published a Report on Genomic Medicine recommending in part that the Office for the Strategic Co-ordination of Health Research “should take the lead in developing a strategic vision for genomic medicine in the U.K. with a view to ensuring the effective translation of basic and clinical genomic research into clinical practice.” The report suggested improving collaboration between academia and biopharma. It also sought a white paper from the government, which instead took the more limited step of committing to establish HGSG to develop a vision for genomics within NHS.
Education and support, like how to disseminate information, are important ethical issues identified in the U.K. around whole-genome sequencing. Others include use and interpretation of data, the access patients should have, and who should be able to access patient data. For example, the current U.K.’s Data Protection Act allows processing within healthcare of personal identifiable data without consent under certain conditions such as being “necessary for medical purposes; and undertaken by a health professional,” or “a person who in the circumstances owes a duty of confidentiality” equivalent to that of a health professional, Dr. Brice explained.
Scientists and clinicians have yet to settle on answers to the questions raised by whole-genome sequencing, Professor Parker commented. “They’re having to work out models of good practices, so you’re starting to get the emergence of views, but they haven’t been established in guidelines.”
As Professor Parker acknowledges, those practices will have to balance the seemingly conflicting goals of existing laws. The U.K., like the U.S., has laws requiring both the privacy of patient data and the open-access disclosure of publicly funded research. And while professionals have begun hashing out data-sharing rules, no consensus has emerged on establishing policies for sharing clinical data: “In that sense, the U.S. and the U.K. are in a similar position.”
All the more reason why the U.S. presidential bioethics commission should give serious consideration to the discussion occurring in the U.K. about how to balance patient privacy rights with the professional duties of clinicians to serve those patients, let alone the duty of researchers to learn about and eradicate disease.
The American bioethical panel heard insights on these and other questions February 2. It plans to discuss its recommendations publicly and come to consensus views in August. Those recommendations are to be presented in a report to President Barack Obama slated for completion this fall. Since the issues are similar, the U.S. panel may very well want to adopt some of the solutions that will eventually emerge on the other side of the pond.