Addressing Disparities Will Advance Genomics, Precision Medicine

January 27, 2020 - Advancements in genomics and precision medicine have improved healthcare’s understanding of human disease, but stakeholders will need to address disparities and increase data sharing in order to leverage the full potential of genomic medicine, according to a study published in Nature.

Over the past two decades, technological advancements, as well as the collection and analysis of genetic and clinical data, have enhanced the use of genomics in healthcare. With these industry-wide changes, genomic medicine is poised to go mainstream, researchers noted.

"The future of medicine will increasingly focus on delivering care that is tailored to an individual's genetic makeup and patterns," said 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 personalized health and medicine for patients at The Mount Sinai Hospital now and for years to come."

Despite the progress the industry has made in genomic medicine, researchers stated that there are still several barriers to overcome, including deeply entrenched disparities and limited genomic knowledge.

READ MORE: Evaluating the Benefits and Challenges of Genomics in Healthcare

“The absence of evidence-based guidelines to support healthcare recommendations continues to hinder the clinical applications of genetic data. In some countries, this is compounded by confusion over reimbursement and disparities in testing across society,” researchers said.

“Many healthcare professionals lack experience in genomic medicine and need education and guidance to practice in the rapidly evolving space of genetic and genomic testing.”

In addition, researchers noted that concerns about data sharing and a lack of strong infrastructure are limiting the industry’s ability to advance genomic medicine.

“There are also concerns about the consequences of unfettered release of genetic data of dubious or inflated clinical relevance, and limited infrastructure to pull these results into mainstream medical systems,” the team said.

To overcome these challenges, the group recommended that the industry take proactive measures to address disparities in scientific research, and to identify clinical opportunities that will benefit individuals and societies around the world.

“It will be particularly important to include populations historically under-represented in genomic research. As over time, clinically sequenced genomes will outnumber those collected in academia, research and healthcare communities will need to develop a harmonized approach to genomics to transcend historical boundaries,” researchers stated.

“Progress will be critically dependent on platforms and governance that lower barriers to the integration of genetic and phenotypic data across studies and countries, along with technical standards that are reliable, secure and compatible with the international regulatory landscape.”

The industry should also increase data sharing and access in order to develop comprehensive inventories of genomic information across populations and environments.

“Research access to functional data, generated at scale, should lower the barriers to mechanistic inference, provide system-wide context, and enable researchers to focus wet-laboratory validation on the most critical experiments,” researchers said.

“Collectively, these efforts will support compilation of a systematic catalogue of key networks and processes that influence normal physiology and disease development and inform a revised molecular taxonomy of disease.”

Finally, stakeholders will need to transform basic knowledge into fully developed physiological and molecular models of disease development. Researchers will have to apply biological insights to facilitate new treatment and preventive options, the group stated.

“Ultimately, barriers to genomic medicine are most directly overcome by demonstrating clinical utility in disease management and therapeutic decision-making, with evidence for improved patient outcomes,” the team said.

“Given the clinical importance of slowing disease progression, target-discovery efforts will increasingly need to embrace the genetics of disease progression and treatment response, as these may involve processes distinct from those captured by studies of disease onset.”

With these recommendations, the researchers believe the industry will be able to leverage the promise of genomics and precision medicine to deliver more personalized, targeted care.

“Collectively, these developments can be expected to accelerate personalization of healthcare delivery. Provided costs are sustainable, a more preventative perspective on health could emerge, managed through proactive genomic, clinical and lifestyle surveillance using risk scores, complex biomarkers, liquid biopsies and wearables,” researchers concluded.

“For the full potential of genomic medicine to be realized, there will need to be sustained collaborative endeavor on several fronts to ensure that the capacity to generate ever more detailed maps of the relationships between sequence variation and biomedical phenotypes delivers a comprehensive understanding of disease mechanisms that can be translated into the medicines of tomorrow.”