The Importance of Family Health History
The Importance of Family Health History
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<0.15) for all 3 types of cancer. Concordance between these methods of risk appraisal varied from 59% for breast cancer to 41% for prostate cancer and only 39% for colon cancer.
Of the 22 women with breast cancer, 10 had high hereditary breast cancer risk based on family history, yet genetic screening only identified 1 as high risk (K=0.12). Similarly for colon cancer, none of the 9 individuals with high hereditary risk identified via family history were
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<0.15) for all 3 types of cancer. Concordance between these methods of risk appraisal varied from 59% for breast cancer to 41% for prostate cancer and only 39% for colon cancer.
Of the 22 women with breast cancer, 10 had high hereditary breast cancer risk based on family history, yet genetic screening only identified 1 as high risk (K=0.12). Similarly for colon cancer, none of the 9 individuals with high hereditary risk identified via family history were
References: ↵ American Society of Human Genetics. New research validates clinical use of family health history as the ‘gold standard’ for assessing personal disease risk. Press release October 22, 2010. http://www.ashg.org/pdf/PR_FamilyHealthHistory_110510.pdf. Accessed November 11, 2010. ↵ Leach B, Eng C. Comparison of family health history to personal genomic screening for risk assessment of breast, colon and prostate cancer. Abstract presented at American Society of Human Genetics 60th Annual Meeting; November 2–6, 2010; Washington, DC. http://ashg.org/cgi-bin/2010/showdetail.pl?absno=20199. Accessed November 11, 2010. ↵ Neergaard L. Family health history: ‘Best kept secret’ in care. Associated Press, Medical News, 2010. http://news.yahoo.com/s/ap/us_med_healthbeat_family_health. Accessed November 11, 2010. ↵ Cleveland Clinic Genomic Medicine, Patient Resources-Family History. http://my.clevelandclinic.org/genomics-genetics/patient-resources/family-history.aspx. Accessed November 12, 2010. ↵ Mayo Foundation for Medical Education and Research. Mayo Clinic. Medical History: Compiling Your Family Medical History. http://www.mayoclinic.com/health/medical-history/HQ01707. Accessed November 12, 2010. ↵ US Department of Health & Human Services. Surgeon General’s Family History Initiative: Resource Packet for Health Professionals. Frequently Asked Questions About Family Health History. http://www.hhs.gov/familyhistory/respachealth.html. Accessed November 12, 2010. ↵ US Department of Health & Human Services. Surgeon General’s Family History Initiative: Resource Packet for Health Professionals. Fact Sheet. http://www.hhs.gov/familyhistory/respachealth.html. Accessed November 12, 2010. ↵ National Society of Genetic Counselors. Your Family History. http://www.nsgc.org/About/FamilyHistoryTool/tabid/226/Default.aspx. Accessed November 12, 2010. ↵ Rubinstein WS, O’Neill SM, Rothrock N, et al. Components of family history associated with women’s disease perceptions for cancer: a report from the Family Healthware Impact Trial (FHITr). Abstract presented at American Society of Human Genetics 60th Annual Meeting; November 2–6, 2010; Washington, DC. http://www.ashg.org/cgi-bin/2010/showdetail.pl?absno=20467.pdf. Accessed November 11, 2010. ↵ Grendzynski D. Talking Family History at Thanksgiving. Cleveland Clinic—About Us. http://myclevelandclinic.org/news_service/family_history.aspx. Accessed November 12, 2010.