Genomics and Personalized Medicine

It has now been over a decade since the human genome was first sequenced, but the utility of genomic findings in daily clinical medicine has grown at a snail’s pace.  Recent advances in sequencing and genetic testing have lowered the cost of obtaining data on an individual patient, but research lags to provide solid guidance to clinicians, and patients, that will aid in diagnosis and treatment.  Several recent pieces in the Journal of the American Medical Association focus on the role of genomics in medicine.  In one, the authors discuss the need for better information systems to store and provide genomic information at the point of care.  Current EHRs are not capable of storing the volume of information generated by genomic testing.  And a useful information system would provide clinical decision support around genetic data, since most physicians do not feel they have adequate training in the field.  (JAMA Article)   Several articles in the current issue discuss other aspects of genomics in medical care and the research reports all deal with use of specific genetic findings in the diagnosis and treatment of disease.  (JAMA Issue)   The authors of several commentaries in this issue note the potential barriers to more widespread use of genomics, including cost, training of health professionals, privacy concerns and the usability of the data.  Personalized medicine, which uses knowledge about the individual patient’s biochemistry, including not just raw genomic sequence, but also expression information, is a very appealing idea.  But it requires that we have a very clear understanding of the linkage between the variations in that individual information and the clinical meaning of the variations.  In a few areas, such as pharmacogenomics and cancer treatment, there is a good start, but for many widespread, chronic diseases, there is a need for much more research.