testing of the relatives of patients newly diagnosed with colon cancer has suggested a prevention strategy for identifying individuals with Lynch syndrome (Coates et al., 2011). Genomics data have been used to provide definitive diagnoses for patients with neuropathy, inflammatory bowel disease, and Proteus syndrome as well as to guide therapeutic care for patients with arterial calcifications, movement disorders, and Miller syndrome ( Bainbridge et al., 2011; Lindhurst et al., 2011; Lupski et al., 2010; Ng et al., 2010; St. Hilaire et al., 2011; Worthey et al., 2011). Although applications of genomics technologies are currently limited in number, their number will only continue to increase. Thus, it is important to determine how genomic data can best be integrated with clinical practice so as to maximize patient benefit. As Bruce Blumberg from Kaiser Permanente observed in the workshop, “During the year in which we plan[ned] the workshop, the future became the present.” It became increasingly clear, he said, that large-scale genomic information would be integrated more fully into clinical practice, which meant that issues related to implementing this change needed to be addressed.
Using DNA sequencing data on a large scale in a clinical setting will pose many difficult challenges. The storage, access, and portability of genetic data all raise significant issues. Questions exist about the need for confirmatory testing of results within a Clinical Laboratory Improvement Amendments (CLIA)–certified laboratory. Relevant information will need to be extracted and deposited into the appropriate medical records in a clinically comprehensible manner. The analysis of this information—and re-analysis as new findings emerge—will put further constraints and burdens on health care practitioners and laboratories, particularly as the current health care system lacks a mechanism to reimburse these activities. Ethical issues related to such things as informed consent and stewardship over this information will also need to be considered as integration moves forward. Complicating all of this is the fact that most patients and health care providers have not yet realized just how broad an effect genomic discoveries are likely to have on treatment course and health.
With these issues in mind and considering the potential impact that genomic information can have on the prevention, diagnosis, and treatment of disease, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop on July 19, 2011, to highlight and identify the challenges and opportunities in integrating large-scale genomic information into clinical practice. The workshop was premised on the assumptions that sequencing technology will advance to the point that it can produce clinically meaningful results and that whole-genome sequencing will be cost-effective and comparable in cost to other diagnostic tests. There is little point in deliberating about these assumptions, Blumberg said, because “no