Technological readiness and implementation of genomic‐driven precision medicine for complex diseases

Abstract

The fields of human genetics and genomics have generated considerable knowledge about the mechanistic basis of many diseases. Genomic approaches to diagnosis, prognostication, prevention and treatmentgenomic-driven precision medicine (GDPM)may help optimize medical practice. Here, we provide a comprehensive review of GDPM of complex diseases across major medical specialties. We focus on technological readiness: how rapidly a test can be implemented into health care. Although these areas of medicine are diverse, key similarities exist across almost all areas. Many medical areas have, within their standards of care, at least one GDPM test for a genetic variant of strong effect that aids the identification/diagnosis of a more homogeneous subset within a larger disease group or identifies a subset with different therapeutic requirements. However, for almost all complex diseases, the majority of patients do not carry established single-gene mutations with large effects. Thus, research is underway that seeks to determine the polygenic basis of many complex diseases. Nevertheless, most complex diseases are caused by the interplay of genetic, behavioural and environmental risk factors, which will likely necessitate models for prediction and diagnosis that incorporate genetic and non-genetic data.

Guidelines for genetic testing of healthy adults who deposit samples and related data in bioresource collections and biobanks

“…Guidelines for genetic testing of healthy adults who deposit samples and related data in bioresource collections and biobanks Baranova E. E. 1,2 , Fedulova K. D. 2,3 , Glotov A. S. 4 , Izhevskaya V. L. 5 1 Russian Medical Academy of Continuous Professional Education. Moscow; 2 LLC Evogen.…”

“…Moscow; 2 LLC Evogen. Moscow; 3 Ural State Medical University. Yekaterinburg; 4 D. O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology.…”

“…На сегодняшний день известно >400 генетических вариантов, ассоци ированных с развитием СД-2 [7]. Однако, не смот ря на достаточно большое количество исследований по поиску генетических вариантов, четкая клиническая дифференциация данного заболевания на основании генетического тестирования сегодня невозможна, генетически детерминированные подходы к лечению находятся на стадии пилотных исследований и их результаты неоднозначны [3,8]. В то же время, ряд исследователей и врачей склоняется к возможности использования геномной информации для прогноза риска данного заболевания и его профилактики, базируясь на использовании оценки полигенного риска [9].…”

“…Москва; 2 ООО "Эвоген". Москва; 3 ФГБОУ ВО "Уральский государственный медицинский университет" Министерства здравоохранения Российской Федерации. Екатеринбург; 4 ФГБНУ "Научно-исследовательский институт акушерства, гинекологии и репродуктологии им.…”

Editorial: Next Generation Sequencing (NGS) for Rare Diseases Diagnosis

“…These new disease classifications hopefully result in new, more tailored treatment and prediction options ( Holzinger et al, 2015 ). Genomic medicine publishes high-quality research that facilitates the use of genomic information in medicine, including treatment, diagnostics, and prevention ( Franks et al, 2021 ). With the goal to explore studies regarding clinical work that benefited from Next Generation Sequencing (NGS), this issue entitled “Next Generation Sequencing (NGS) for Rare Diseases Diagnosis” is published.…”