Family history as a genetic assessment tool: Where are the resources?
You’re seeing a patient in clinic today who is newly diagnosed with diabetes. Pete shares with you how afraid he is of all the changes that knowing about this new illness will bring to his life. He hopes that he and his family can adapt to the diet restrictions and recommendations for what he now needs to be eating. He’s been told how valuable exercise is to controlling his blood sugars and wonders how he is going to fit that into his busy work schedule.
After working with Pete to address his concerns, he feels more comfortable. However, he becomes concerned again when you ask him about his family history of diabetes.
Why is it necessary to ask Pete a question that upsets him? How can you use his responses to inform decisions about his care? How will knowing his family history influence recommendations for your patient and his children?
Family history is a valuable tool. Genetic (inherited) factors can contribute to the development of many diseases, and those at risk can often be identified early if information is collected, shared, and interpreted correctly. For example, Pete had been experiencing unexplained weight loss, fatigue, and headaches, and if a healthcare provider had initially explored with him his family history (both his parents have diabetes), the MRI may not have been the first test chosen to evaluate the potential source of his symptoms.
People with a family history of Type II, late-onset diabetes are more likely to develop it themselves, but, of course, your assessment doesn’t end there. Many other environmental factors contribute to a person’s risk for diabetes, including diet, exercise, ethnicity, and overall weight, so individual assessment for disease susceptibility needs to include all those factors.
However, knowing a person’s family history information does help in determining not only your patient’s risk, but also his children’s risk. Understanding the hereditary contributions for risk of disease can often be an incentive for getting screening tests and/or making behavior changes. Mostly, such an assessment can help you and your patient identify risk factors that can be changed and those that can’t.
The Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators monograph (http://www.genome.gov/Pages/Careers/HealthProfessionalEducation/geneticscompetency.pdf) states family history assessment is an essential competency for all nurses. For example, a recommendation under nursing assessment is that the registered nurse demonstrates the ability to elicit a minimum of a three-generation family history information. The nurse should be able to construct a pedigree and collect personal health and developmental histories that consider genetic, environmental, and genomic influences and risk. The recommendations for what is to be taught to nurses to ensure such competency can be located in the outcome indicators section of the monograph.
Once the assessment information is collected, being able to analyze and interpret findings may challenge the nurse who is needing to find credible, accurate, and current resources that help with identifying known health risks for patients and their families.
In addition, research findings about the contribution of multiple genes to the cause, diagnosis, and treatment of diabetes and other diseases are occurring at a rapid rate. Finding credible resources for learning about genetics and genomics (that is, the influence of individual genes or interaction of multiples genes, the environment, and other factors such as cultural and psychosocial on health) can help prepare you to be able to meet the needs of your patients now and for the future. So where do you find such resources?
Governmental, professional, and consumer organizations all have something to offer. For example, www.genome.gov provides current news releases, resources, and publication announcements. For instance, this site has a series of articles that can help the educator in identifying genomic resources and strategies for education in the academic setting (see http://www.genome.gov/27543639). Specifically, the final article in the series (due out 12/11) will be of value to you in identifying diverse types of genomic education materials and courses.
Several professional organizations that provide genomic materials and meetings of value to the nurse include the International Society of Nurses in Genetics (www.isong.org) and the National Coalition for Health Professional Education in Genetics (www.nchpeg.org). Both offer opportunities and resources to learn more about the implications of genomic information (including family history) for clinical care.
A consumer organization that provides wonderful resources for the general public is the Genetic Alliance (www.geneticalliance.org). Materials offered by the organization’s website, webinars, and annual meetings provide an excellent foundation for genomic literacy.
The Genetics/Genomics Competency Center for Education (G2C2 or www.g-2-c-2.org) captures currently available curricular materials. The site and steps for using the Genetics/Genomics Competency Center for Education (G2C2 or www.g-2-c-2.org) to find educational resources of interest to you are described below. You can also pull up the full Competency document from this site! or by clicking the PDF icon above.
Central to contemporary healthcare is the nurse who is knowledgeable about the importance of genomics to the continuum of care, for all populations, and for all ages. These resources are only a beginning step for you to take towards this lifelong journey of learning, updating, and understanding the importance of genomics to you and your patients.
Jean Jenkins is senior clinical advisor, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md.
Johnson R, Williams S, Spruill I. J Nurs Scholarship. 2006;38(1): 11-18.
McCarthy M. Genomics, type 2 diabetes, and obesity. N Engl J Med. 2010; 363:2339-2350.
Pearson E. Pharmacogenetics in diabetes. Curr Diab Rep. 2009;9: 172-181.
Tonkin E, Calzone K, Jenkins J, Lea D. Genomic education resources for nursing faculty. J Nurs Scholarship. In press
Additional helpful links
09/12/11 Evaluation of Genomic Applications in Practice and Prevention Topics under review include: TCF7L2 and pPARG2 as predictive testing/risk assessment for Type II Diabetes (those with family history/general population) ttp://www.egappreviews.org/workingrp/topics_consider.htm
09/12/11 Family history collection and assessment at http://www.nchpeg.org/index.php?option=com_content&view=article&id=154&Itemid=64
09/12/11 A Catalog of Published Genome-Wide Association Studies and enter the search term diabetes http://www.genome.gov/page.cfm?pageid=26525384#searchForm