proposed roadmap to stepwise integration of genetics in family medicine and clinical research提出的路线图逐步整合遗传学在家庭医学和临床研究.pdfVIP

Houwink et al. Clinical and Translational Medicine 2013, 2:5 /content/2/1/5 PERSPECTIVE Open Access Proposed roadmap to stepwise integration of genetics in family medicine and clinical research Elisa JF Houwink1,2,5*†, Annet W Sollie3†, Mattijs E Numans3,4 and Martina C Cornel1 Abstract We propose A step-by-step roadmap to integrate genetics in the Electronic Patient Record in Family Medicine and clinical research. This could make urgent operationalization of readily available genetic knowledge feasible in clinical research and consequently improved medical care. Improving genomic literacy by training and education is needed first. The second step is the improvement of the possibilities to register the family history in such a way that queries can identify patients at risk. Adding codes to the ICPC chapters “A21 Personal/family history of malignancy” and “A99 Disease carrier not described further” is proposed. Multidisciplinary guidelines for referral must be unambiguous. Electronical patient records need possibilities to add (new) family history information, including links between individuals who are family members. Automatic alerts should help general practitioners to recognize patients at risk who satisfy referral criteria. We present a familial breast cancer case with a BRCA1 mutation as an example. Keywords: Genetics registration, Family history, Electronic patient record, General practice/family medicine, Clinical research Background mation in Electronic Patient Records. Privacy and risk of Public health benefits of advancements in understanding discrimination cause concerns when registration is the human genome are still to be realized for common considered. Consequently,