Proposed roadmap to stepwise integration of genetics in family medicine and clinical research

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.

Efficacy of an educational intervention on family physicians’ risk assessment and management of colorectal cancer

“…These findings contribute to studies demonstrating the value of educational interventions in hereditary cancer (Blazer et al 2004;Carroll et al 2009Carroll et al , 2011Houwink et al 2013Houwink et al , 2014aSchroy et al 2005;Watson et al 2001). Watson showed improved referral decisions for patients with a FH of breast/ovarian cancer, using mailed information including a laminated summary card with simple referral guidelines, a booklet with more detailed information, and two patient leaflets (Watson et al 2001).…”

“…Houwink showed that an online genetics Continuing Professional Development module resulted in sustained improvement of genetics knowledge in general practitioners. (Houwink et al 2013). However, skills such as referral to a specialist and knowledge of benefits and limitations of genetic testing did not improve significantly.…”

“…Of course, the most powerful application of such a tool would be the direct incorporation of its algorithm into the primary care electronic medical record. Houwink et al have proposed a "roadmap to stepwise integration of genetics in family medicine" with education and training needed first, followed by improvements in the recording of family history in the electronic health record with algorithms to identify and alert practitioners to those at risk who satisfy referral or enhanced screening or management criteria (Houwink et al 2013).…”

The Future of Genomic Testing in Primary Care: The Changing Face of Personalized Medicine

“…We propose a strategic integration framework that includes the following elements: ensuring the fit of genomic medicine with the key approach of whole-person care through personalization; targeting areas that will see early benefit such as pharmacogenomics; ensuring that appropriate clinical decision support is available that supplements any education efforts for primary care providers; assessing the economic impact of genomic medicine to determine optimal implementation; supplementing genomic information with patient information including the full FHH; and looking to the future for areas of development such as the intersection of public health, primary care and genomics. Our strategic framework builds on early work that emphasizes the role of education and step-wise implementation [18,20,21,89]. Effective ways to continuously review and summarize the rapidly accumulating complex knowledge are needed to facilitate policy decisions and evidence-based recommendations [88].…”

Making Personalized Health Care Even More Personalized: Insights From Activities of the IOM Genomics Roundtable

“…Houwink and colleagues proposed a roadmap for stepwise integration of family history data with primary care and genomic services based upon the Dutch research experience, which provides a useful illustration for primary practices and health care centers undergoing clinical implementation. 43 Emery and colleagues, in the United Kingdom and Australia, have already shown that combining primary care education, partnership models, and systematic integration of the family history within EHRs is effective in improving hereditary cancer screening. 21,38 Finally, multiple US health care systems-including the Cleveland Clinic, Duke University Medical Center, Intermountain Healthcare, Vanderbilt University Medical Center, and St. Jude Children's Research Hospital-have successfully integrated family history and genomic medicine within EHRs.…”