Your Patients’ and Your Own
JoAnn Grif Alspach, RN, MSN, EdD, Editor
As much as we might anticipate that the most cutting-edge scientific approaches to health assessment would afford the most reliable indicators for guiding health care decisions, that isn’t always the case. Researchers at the Genomic Medicine Institute’s Center for Personalized Genetic Healthcare at the Cleveland Clinic recently reported that when an assessment of family health history was compared to evaluations from commercially available personal genome screening test kits, family health history consistently served as the superior tool for predicting an individual’s risk of developing certain diseases.1,2 More specifically, this study of 22 women with breast cancer and 22 men with prostate cancer was designed to determine the accuracy and concordance of risk assessment for 3 common forms of cancer (breast, prostate, colon) when risk was predicted by family history versus by the genomic screening kits marketed by one vendor (Navigenics, Foster City, California). Each assessment method was used to sort patients into one of 3 risk categories: general population, moderate risk, or high risk. Some of the more notable findings from this research include the following2:
For all 3 types of cancer, family history and genetic testing risk assessments agreed on the subjects’ risk categories an average of only 40% of the time.1
Overall concordance between the 2 methods of risk assessment was low (K as high risk by personal genomic screening. Overall, of the 22 patients with high hereditary risk as determined by family history, their personal genetic screening tests identified only 1 subject as high risk.2 If commercially prepared genetic screening kits marketed directly to the public neglect to identify hereditary risks, individuals may be erroneously reassured by false negative results and conclude that they have no reason to seek further health care screening or follow-up.3
Conversely, genomic testing classified 8 men at a moderate/high risk for prostate cancer, while their family history categorized them with risk no higher than the general population, suggesting that false positives may also be a concern with genomic screening.2,3 The researchers’ explanation for this finding is that the genomic screening products marketed to consumers typically examine a wide array of DNA variants, including some not universally recognized, yet may not include genetic mutations associated with specific disorders.3
The researchers concluded that a family history and personalized genomic screening may one day become complementary tools for gauging cancer risk,2 but at least for now, family health history remains “the gold standard in personal disease risk assessment.”1(page 2) That conclusion is important for both critical care nurses’ assessments and counseling of critically ill patients as well as for monitoring our own personal and family health risks.
Definition of Family Health History
As Critical Care Nurse readers know, a family health history (also referred to as a family medical history, a family history, or medical family tree) is a compilation of relevant information about medical conditions affecting a patient and his/her close family members.4,5 It represents an essential...