Study focuses on researchers identifying opportunities to advance genomic medicine

Based on genetic discoveries that have substantially advanced over the past 25 years to treat a spectrum of ailments ranging from inflammatory bowel diseases to diabetes, a new study attempts to provide a framework for medical innovation to improve clinical care.

The study published in the journal Nature Research titled "A brief history of human disease genetics," reviews breakthroughs in the association of specific genes with particular disorders, progress mostly driven by advances in technology and analytical approaches.

"The future of medicine will increasingly focus on delivering care that is tailored to an individual's genetic makeup and patterns," says Judy H. Cho, MD, Dean of Translational Genetics at the Icahn School of Medicine at Mount Sinai, Director of The Charles Bronfman Institute for Personalized Medicine, and a co-author of the report.

"Applying this knowledge will help us to enhance personalised health and medicine for patients at The Mount Sinai Hospital now and for years to come."

The study tracks advance in genomics over the past two decades through better technology, expanded access to vast and diverse data, and the development of other foundational resources and tools. The researchers also note the evolution of how diseases were discovered and identified.

Another major advancement is the increasing availability of large prospective population-based cohorts, known as biobanks. These biobanks often include tissue samples from individuals of many ethnic backgrounds and provide access to a wide range of demographic, clinical, and lifestyle data.

The study finds that systematic approaches to data sharing, such as global collaborative networks, are critical in characterizing new disorders.

Today, genetic testing for individuals with symptoms and for at-risk relatives occurs routinely; it ranges from cancer screenings to noninvasive prenatal tests. But challenges remain, including the absence of evidence-based guidelines to support health care recommendations, disparities in testing across society, and the lack of experience in genomics by some health care professionals.

The researchers say the biggest task in the coming decade will be to optimize and broadly implement strategies that use human genetics to enhance understanding of health and disease and maximise the benefits of treatment.

This will require joint efforts by the industry and academia to establish: The comprehensive inventories of genotype-phenotype relationships across populations and environments; proactive measures to address entrenched disparities in scientific capacity and clinical opportunities that benefit individuals and societies across the world.

A systematic assessment of variant and gene-level functions across cell types, states, and exposures; improved strategies for turning basic knowledge from assessments into fully developed molecular, cellular, and physiological models of disease development; and application of these biological insights to drive new treatment and preventive options.