Concurrent with the first human population sequencing projects, large and coordinated genomics efforts completed the first comprehensive maps of the molecular state of the human genome and epigenome (The ENCODE Project Consortium 2012), and hundreds of similar studies have been completed in other biological systems 6. The expanding scope and growing acceptance of such techniques places tumour genotyping at the forefront of genotype directed care. Several centres have begun targeted screening for highly penetrant germline mutations for Lynch syndrome and in BRCA1/210–12 to identify genetically at-risk individuals.
With appropriate immunohistochemical or other evidence suggesting germline mutations, patients may be actively researched and advised regarding the importance of genomic testing for their treatment and for the potential preventive care of their relatives. Direct patient sensitization has greatly increased the acceptance of germline tests in patients with colorectal cancer. For example, it was reported that at the Cleveland Clinic in Ohio, the test increased almost six-fold, from 14% with information provided directly from surgeons to 80% with a genetic counsellor seeing patients at follow-up examinations. Highly penetrant variants such as these provide robust, evidence-based paradigms to help move a clinical site toward implementing broader genomic medicine approaches. Self-reported family history information can also be used in risk assessment for individual patients with documented clinical validity and utility, despite its potential weaknesses such as incomplete or inaccurate reporting.
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Family history is generally not difficult to collect, especially with electronic data collection tools such as the Surgeon General’s My Family Health Portrait, although integrating the information into an independent electronic medical record (EMR) is not trivial. For example, a Duke University has a pilot project that is collecting three-generation family history information on 48 diseases using a Web-based computerized tool. Patient-entered information is integrated into the medical record and generates a pedigree, tabular family history, and reports for the patient and clinician.