Mount Sinai researchers look to advance genomic medicine

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Genetic discoveries over the past 25 years have substantially advanced understanding of both rare and common diseases, furthering the development of treatment and prevention for ailments ranging from inflammatory bowel diseases to diabetes, according to a new study published in the journal Nature.

Researchers from Mount Sinai Hospital in New York City reviewed breakthroughs in the association of specific genes with disorders, progress mostly driven by advances in technology and analytical approaches. The study also provides a framework for medical innovation to improve clinical care in the field.

The study tracks advances 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, the researchers said. 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, the researchers said—it ranges from cancer screenings to noninvasive prenatal tests. Challenges remain, they said, including the absence of evidence-based guidelines to support healthcare recommendations, disparities in testing across society, and the lack of experience in genomics by some healthcare professionals.

The researchers said 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 maximize the benefits of treatment.

This will require joint efforts by the industry and academia to establish 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 function 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.

"The future of medicine will increasingly focus on delivering care that is tailored to an individual's genetic makeup and patterns," says Judy Cho, MD, coauthor of the study, Dean of Translational Genetics at the Icahn School of Medicine at Mount Sinai, and director of The Charles Bronfman Institute for Personalized Medicine. "Applying this knowledge will help us to enhance personalized health and medicine for patients at The Mount Sinai Hospital now and for years to come."