National Family History Day 2015: Thinking globally and acting locallyPosted on by
Though you probably will not find greeting cards in stores celebrating this fact, Thanksgiving has been known as National Family History Day in the U.S. since 2004. The Office of the U.S. Surgeon General and many federal, state and private partners have marked each year with events and announcements promoting the collection and use of family health history information for disease prevention and health promotion. For a time, I had the privilege of helping to develop and carry out some of those observances at the national level through my work at the National Human Genome Research Institute.
This Thanksgiving, at a family medicine residency program in rural central Maine, we will be observing National Family History Day with a concrete, but less public, activity. As of November 2, we have launched a one-year pilot program funded by the Maine Cancer Foundation to facilitate more effective collection and use of family health history for hereditary cancer syndromes in our clinics. We have developed a program that harnesses a key piece of our patient centered medical home (PCMH) care model – the nurse wellness visit – to help patients and providers with collection and interpretation of family health history information relevant to hereditary breast and ovarian cancer as well as Lynch syndrome. The nurses will assist patients’ use of a structured family history tool and the information will be assessed for “family history red flags”. These visits are a stepping stone to access a virtual genetics clinic supported by genetics professionals physically located at another institution about 1.5 hours away from our clinics. The genetics team will provide the patient with counseling and testing services. Importantly, they will also provide a structured plan of care back to our PCMH clinics to ensure optimal long-term care of at risk individuals and family members. Patients will be allowed to self select for participation in the program. It is too early to know what patient uptake of these services will be, but my practice’s patient advisory council (a group of patients of the practice that meets monthly to advise the practice on various subjects pertaining to patient care) has expressed great enthusiasm for the project.
Current guidelines provide impetus to programs like ours that aim to make better use of potentially valuable and relatively accessible family health history information relevant to the care of patients. High profile, evidence-based guidelines from groups such as the U.S. Preventive Services Task Force explicitly and implicitly make use of family health history information to guide selection of appropriate screening and preventive services for conditions including osteoporosis, hyperlipidemia, and breast cancer. The recently updated American Cancer Society recommendations for early breast cancer detection in asymptomatic women includes changes in mammography recommendations that incorporate family health history into decisions about when to begin mammography in individuals with a family history suggestive of increased risk for breast cancer. Evident in talks at the 2015 American Society of Human Genetics meeting was a “new” use of family health history information that has piqued the interest of the genetics research community. As it turns out, sequencing studies of individuals with putatively genetic conditions turn up a fair number of novel and possibly pathogenic variants that aren’t evident in large population databases. Having access to carefully ascertained family health history as well as variant information on other relatives turns out to be a very useful tool for understanding the meaning of variants to the affected patient.
A number of barriers have been identified to widespread collection and use of family health history in clinical care. Federal resources are available that can reduce some of these barriers, but recent discussions with colleagues has revealed a lack of awareness of these resources. One such barrier is the lack of clarity regarding federal rules governing collection and storage of identifiable health information about relatives obtained from a patient. The genetics community has long been ambivalent about collection, storage and transmission of data about relatives from a proband (patient) due to privacy concerns. This has led to a variety of less than ideal work-arounds including complex de-identified naming systems for relatives in clinical charts. To address this issue, in 2009, the United State Office of Civil Rights posted several documents clarifying permissible collection, storage, transmission and use of family health history information (http://www.hhs.gov/ocr/privacy/hipaa/faq/family_medical_history_information/index.html). These are very much worth reading as these documents dispel some of the existing misconceptions that clinicians and researchers have been laboring under regarding the Health Insurance Portability and Accountability Act (HIPAA) and family history including that names of relatives provided by the patient should not be included in the medical record.
Another barrier is the lack of incentives to collect family health information in electronic health records. It is widely acknowledged that electronic health record systems are underdeveloped with regard to family history capture and interpretation, despite the importance of family health history information for optimizing health care. An important step in remedying this was taken in 2012, when U.S. Department of Health and Human Services included the collection and storage of structured family health history information in the Stage 2 of the Meaningful Use program [PDF 182.34 KB] for health information technology. This program provides a federal financial incentive through the U.S. Centers for Medicare and Medicaid Services to health care entities with an EHR that meet certain standards of quality and quantity of family history information collected in the system’s EHR.
Readers of this blog are asked to spread the word regarding these measures – perhaps more activities like the one at our residency may spring up as barriers to the use of family health history are removed.
We at the Office of Public Health Genomics wish you and your family a happy and safe National Family Health History Day! We hope you enjoy your turkey on Thanksgiving as well.