Update From The Family Health History Project

Members of the G2MC Family Health History Flagship Project comprise mostly of healthcare providers who come from all parts of the world. As a group we have learned that we all want to expand the use of family health history (FHH) in clinical care. But we also have learned that, beyond paper, many are not yet using electronic based tools that help capture, analyze, and inform the clinicians about their patient’s inherited risk for disease.

The group is working together to solve this problem. Dr. Shane Quinonez from the University of Michigan (US) shared his development of a smart phone app for FHH data collection that has been tested in Ethiopia. Dr. Jose Claudio Cosali from Brazil has developed a FHH collection tool on the REDCap platform. To further understand the methods used today around the world, Aniefiok Udoakang PhD from Ghana is leading an effort to survey what FHH tools are in use (both paper and electronic), and what clinical use cases are the focus for collecting FHH data. The group is working through the details of organizing clinical pilots using electronic FHH apps in countries in South Asia, Southeast Asia, South America, and Africa.

There is an early but promising global ecosystem emerging around FHH. The Global Alliance for Genomics and Health (GA4GH) will soon publish a document that recommends the use of a minimum core data set for FHH data collection tools, and will also publish a companion data model in the HL7 FHIR standard to promote FHH data sharing and interoperability between systems. The US-based National Human Genome Research Institute (NHGRI) has a FHH workgroup that is publishing a paper presenting implementation goals that are necessary to achieve the full clinical utility of FHH. An effort in the Netherlands is defining a framework to analyze FHH apps for quality and user value.

In a recent white paper, the World Economic Forum’s Precision Medicine program states the importance of community healthcare workers in low resource countries gaining the ability to provide personalized recommendations based on FHH, as FHH is one of the most economical genetic “tests”, and an excellent starting point when resources are limited. So with all this work still to be done, and many impactful opportunities to do it, the G2MC Family Health History Flagship Project continues to look for partners from the genealogy industry to big tech.

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