These meetings have identified and begun to address significant obstacles to implementation, such as lack of evidence of efficacy, limited availability of genomics expertise and testing, lack of standards, and difficulties in integrating genomic results into electronic medical records.
In 2014 the Human Heredity and Health (H3Africa) Consortium posted Guidelines for Community Engagement in support of their mission to foster genomic research expertise in Africa as a tool for addressing health inequities.
An enormous variation also exists in access to genomic technology and expertise across health systems, as well as variation in the level of the underlying need for genomics as a tool to manage infectious disease.
Moreover, the diagnosis of microdeletion/microduplication syndromes using only clinical assessment may be difficult because of the great variability in the symptoms, especially relative to the size of the genomic imbalance and the expertise of the clinician [ 32].
It's built a big data analytics platform that harnesses clinicians' medical expertise to enhance genomic diagnostic via AI algorithms — leading, it says, to better and faster diagnoses for patients with diseases such as cancer.
Thus, clinical implementation of OncoMap must incorporate both genomic data generation and bioinformatic analytical expertise into a molecular pathology or clinical diagnostic setting.
These projects will be particularly appropriate for collaborations between investigators with different expertise to analyze the genomic data to elucidate the genetic bases of cellular and developmental events.
We are grateful to Vanderbilt's biostatisticians Drs. Yu Shyr, Steven Chen and Liping Du for sharing their expertise on analysis of genomic data as well as their consults on statistical analysis.
National governments could name an independent third party (ombudsman), with expertise in both genomics and personal insurance underwriting to be responsible for addressing complaints of adverse underwriting decisions involving genomic information.
Better communication flow across borders and research teams, encompassing data from clinical and population research, enables researchers to connect the diverse types of datasets and expertise needed to elucidate the genomic basis and complexities of disease etiology.
In the genomic medicine setting, where each individual's expertise and knowledge may only focus on one part of the genome (such as for specific genes or diseases), network-based collaborative investigation may become especially important.
