Last week, I was privileged to attend a HIMSS roundtable discussion on Preparing EHRs for Bioinformatics, a topic to which I had not given much consideration in the past. The discussion was led by Kathleen McCormick, PhD, RN, FAAN, FACMI, FHIMSS. Dr. McCormick is a leading nurse scientist in the area of genetics, genomics, and bioinformatics.
Here are the quick definitions she provided (OK, I admit I needed the reminder).
- Genetics – study of individual genes and their impact on relatively rare single gene disorders
- Genomics – study of all the genes in the human genome together, including their interactions with each other, the environment, and other psychosocial and cultural factors
- Bioinformatics – includes Genetic/Genomic/Molecular processes, pathways, biorepositories, statistical analysis, and decision support
She discussed how breast cancer treatment is radically improving due to better understanding of the impact of genetics and genomics. According to the CDC:
Two genes influence risk for breast cancer: BRCA1 and BRCA2. All men and women have these genes. Normally, they help protect you from getting cancer. But when one or both of them have a mutation, they increase your breast and ovarian cancer risk. Without treatment, women with a BRCA gene mutation are 7x more likely to get breast cancer and 30x more likely to get ovarian cancer before age 70 than other women.1
Dr. McCormick reminded us of a simple fact: all diseases and conditions have a genetic or genomic component. So, what does this have to do with nursing informatics? Simple – we need to be designing information systems that collect genetic and genomic data. Dr. McCormick charged the group to “assure the family history section in an EHR elicits a minimum of three generation family history and the physical assessment section includes information regarding genetic and environmental information and risk factors.”
So we in nursing informatics have a clear direction…but what about you?
This is where genealogy comes into play – how many of us know three generations of family history? Remember that would be 14 people, your parents, grandparents, and great-grandparents – spanning 100+ years! Almost no one in the room did – do you? And what is each of us doing to provide this information to our descendants? A free tool from Department of Health and Human Services is available on https://familyhistory.hhs.gov/fhh-web/home.action that can help.
In honor of Breast Cancer Awareness Month, I urge you to start collecting and sharing your family’s health history today before the information is lost for all time.