Abstract
Although best practices have emerged on how to analyse and interpret personal genomes, the utility of whole genome screening remains underdeveloped. A large amount of information can be gathered from various types of analyses via whole genome sequencing including pathogenicity screening, genetic risk scoring, fitness, nutrition, and pharmacogenomic analysis. We recognize different levels of confidence when assessing the validity of genetic markers and apply rigorous standards for evaluation of phenotype associations. We illustrate the application of this approach on a family of five. By applying analyses of whole genomes from different methodological perspectives, we are able to build a more comprehensive picture to assist decision making in preventative healthcare and well-being management. Our interpretation and reporting outputs provide input for a clinician to develop a healthcare plan for the individual, based on genetic and other healthcare data.
Highlights
A great deal of literature has been generated over the past decade defining best practices for clinical interpretation of personal genomes (Nykamp et al, 2017; Biesecker et al, 2018; Brandt et al, 2019; Machini et al, 2019)
The predicted ulcerative colitis risk for three members of the family was communicated to Mother, who is already displaying some symptoms of the disease, and to Son, who is already taking steps to bring these results forward to his general practitioner as part of his future health management plans
Our most notable findings for the family were around susceptibility to ulcerative colitis, and in the areas of fitness, nutrition, and pharmacogenomics
Summary
A great deal of literature has been generated over the past decade defining best practices for clinical interpretation of personal genomes (Nykamp et al, 2017; Biesecker et al, 2018; Brandt et al, 2019; Machini et al, 2019). Other studies have used family genomes to assign the precise chromosomal position of variants (Roach et al, 2011). The use of genome analysis for screening and disease prevention remains underdeveloped. To address this shortcoming, our current study sheds light on two areas. We provide a comprehensive whole genome analysis of pathogenicity screening, genetic risk, pharmacogenomic, fitness, and nutrition trait analysis. We discuss the joint interpretation of these results within the perspective of a family of five for whom we have deep phenotypic knowledge, allowing us to find “true positive” predictions based on the family observations
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