Genetic Alliance Response to National Institutes of Health Statement on State of the Science Conference: Family History and Improving Health

The NIH convened an independent panel of healthcare professionals and members of the public to assess the state of the science of family health history in primary care. After a day and a half of presentations by investigators and experts in the field of family health history, and evaluation of an extensive literature review on the subject of family health history in the primary care setting, this panel identified 25 areas for research where current evidence is lacking.

Genetic Alliance concurs with the panel’s assessment that more research is needed, and we have one additional research question to be added to their recommendations:

How is family health history incorporated into integrated health systems?

Publication, even informally, of data on the use of family health history (FHH) in existing systems would be invaluable for other groups to learn from and adopt the models. Research should come both from systems where the integration is already in place, such as Intermountain Healthcare and Partners HealthCare, and from newly funded systems.

However, the panel’s scope was limited. In focusing only on primary care, the conference did not include a broad swath of FHH activity that occurs beyond the scope of the primary care provider and the traditional medical setting.

There are many types of care providers, starting with the family and the community. Individuals and families require unique access points to health information. Disease-specific advocacy organizations, community-based organizations, and other support networks all provide care in different ways and can provide the access points for health information for each individual, family, and community. Communities are such a critical part of the FHH story because communities are built upon trust. Multiple attendees shared anecdotes about the rapport they built with patients over years. With greater trust came more information and led ultimately to improved ability to provide care. Therefore, partnerships with communities to serve as a point of education and support are integral to the successful collection and use of FHH information.

There is no such thing as a one-size-fits-all family health history resource or approach. For this reason, along with the diversity of care providers, evidence from the primary care setting alone cannot possibly serve to inform the use of FHH broadly. In addition to risk assessment, increased knowledge of FHH can increase comfort communicating with a healthcare provider, increase an individual’s health and genetics knowledge, and increase community engagement in health issues. FHH mixes health with culture, environment, and behavior, so it is not just a health concept, but a lifestyle concept, one that will be unique for each family and community.

We must consider other types of evidence beyond that from primary care, such as:

- Individual uptake of FHH tools
- Increased communication in families and communities about health
- Community-led FHH initiatives
- Reduced stigma around health
- Lifestyle modifications based on FHH conversations outside the primary care setting

People vote with their feet—and these days, in our web 2.0, networked world, with a click of the mouse—and these things can be measured and used to inform the effectiveness of FHH as a health intervention. Furthermore, FHH should be incorporated and presented as a unifying theme in all public health messaging. It is accessible across cultures in a way that genetics, as a word and a concept, is not. At the same time, it can be the bridge between health and genetics, showing people the way to connect their daily lives to their health and leading them, engaged and informed, into a world of personalized medicine.

Finally, the panel’s recommendations consider research only, and make no assertions about the use of FHH, in the primary care setting or elsewhere, while further research is conducted. Despite the fact that the panel found a lack of evidence to support the use of FHH in the primary care setting, we believe that physicians who have been using FHH should continue to do so. Likewise, other care providers should also continue to use family health history in its varied applications beyond traditional risk assessment, diagnosis, and other medical uses.