Modernizing family health history: achievable strategies to reduce implementation gaps

Abstract

Family health history (FHH) is a valuable yet underused healthcare tool for assessing health risks for both prevalent disorders like diabetes, cancer, and cardiovascular diseases, and for rare, monogenic disorders. Full implementation of FHH collection and analysis in healthcare could improve both primary and secondary disease prevention for individuals and, through cascade testing, make at risk family members eligible for pre-symptomatic testing and preventative interventions. In addition to risk assessment in the clinic, FHH is increasingly important for interpreting clinical genetic testing results and for research connecting health risks to genomic variation. Despite this value, diverse implementation gaps in clinical settings undermine its potential clinical value and limit the quality of connected health and genomic data. The NHGRI Family Health History Group, an open-membership, US-based group with international members, believes that integrating FHH in healthcare and research is more important than ever, and that achievable implementation advances, including education, are urgently needed to boost the pace of translational utility in genomic medicine. An inventory of implementation gaps and proposed achievable strategies to address them, representing a consensus developed in meetings from 2019-2020, is presented here. The proposed measures are diverse, interdisciplinary, and are guided by experience and ongoing implementation and research efforts.

Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel

“…We wish to increase testing for younger and healthy adults, who visit their PCP less often, by engaging them through EHR patient portal messages ( Christensen et al, 2021 ) and by expanding testing to women’s health clinics. To accomplish enhanced risk assessment for genetic disease risks, family health history and genomic population health risk information should be co-analyzed ( Wildin et al, 2021 ). This adds complexity but could propel family member (“cascade”) testing, an important added value for genomic population health screening.…”

Development of the Tool to Empower Parental Telling and Talking (TELL Tool): A digital decision aid intervention about children's origins from donated gametes or embryos

“…Other developments in the move toward openness is the promotion of knowledge about genetic heritage, which is increasingly important for health histories and personalized medicine—defined as “an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease.” 18 An accurate health history remains the least expensive and most universal, accessible, and practical genetic risk assessment tool. 19 Recommendations to increase its use and implementation, including expanding lay education about the importance of inherited genetic risks, are underway. 19 – 21 Reports about parents being prompted to tell their offspring about their genetic origins because of genetically related health issues that arise are also surfacing.…”

“… 19 Recommendations to increase its use and implementation, including expanding lay education about the importance of inherited genetic risks, are underway. 19 – 21 Reports about parents being prompted to tell their offspring about their genetic origins because of genetically related health issues that arise are also surfacing. 22 Identity development, in regards to the ability of donor-conceived people to understand themselves through knowledge of where their traits are from, has also been mentioned in the literature as an extenuating factor in the move toward openness about genetic origins.…”

FHH Quick App Review: How Can a Quality Review Process Assist Primary Care Providers in Choosing a Family Health History App for Patient Care?

“…Traditionally, many types of risk data are collected during healthcare diagnosis, management, and research. Family health history (FHH) is an exemplary data type for risk assessment, diagnosis, research, and preventative health, and is universally accessible [ 1 ]. However, the process of capturing and coordinating FHH data among healthcare providers is not yet fully digital.…”