Integrating Genomics into Healthcare: A Global Responsibility

Abstract

Genomic sequencing is rapidly transitioning into clinical practice, and implementation into healthcare systems has been supported by substantial government investment, totaling over US$4 billion, in at least 14 countries. These national genomic-medicine initiatives are driving transformative change under real-life conditions while simultaneously addressing barriers to implementation and gathering evidence for wider adoption. We review the diversity of approaches and current progress made by national genomic-medicine initiatives in the UK, France, Australia, and US and provide a roadmap for sharing strategies, standards, and data internationally to accelerate implementation.

Big Data – How to Realize the Promise

“…In addition, with the exception of clinical trials data, data were not generated to support regulatory decision making and, hence, the need to comply with strict quality guidelines. Thus, data heterogeneity spans a continuum; consider genomics as an example where nearly 250 million genomes are currently available worldwide, but while relatively well structured, much of the data is siloed by disease, institution, and country, generated with different methodologies, analyzed by nonstandardized software, and often stored in incompatible file formats, and consequently only a small percentage is linked . This situation is replicated over multiple datasets in the big data landscape.…”

“…Thus, data heterogeneity spans a continuum; consider genomics as an example where nearly 250 million genomes are currently available worldwide, but while relatively well structured, much of the data is siloed by disease, institution, and country, generated with different methodologies, analyzed by nonstandardized software, and often stored in incompatible file formats, and consequently only a small percentage is linked. 6 This situation is replicated over multiple datasets in the big data landscape. Consider also that genomics is one of the most well organized fields with considerable harmonization efforts, such as Global Alliance for Genomics and Health Connect, already underway.…”

Rapid response to the Alpha-1 Adrenergic Agent Phenylephrine in the Perioperative Period is Impacted by Genomics and Ancestry

“…As biobanks and genomic databases are constantly increasing in size, limitations in sample size will gradually disappear. Moreover, federated datasets and data-sharing across multiple institutions are paving the way towards sample sizes orders of magnitude larger than currently available ones, leading to significant increases in statistical power and precision (Abul-Husn & Kenny, 2019;Stark, Dolman, Manolio, & Ozenberger, 2019). Approaches like the one used in this paper, leveraging the union of genomics and extensive clinical data capture, as well as statistical tools borrowed from the field of artificial intelligence to customize treatment, will lead to tailored dosage and anesthetic plans, thereby constituting a true paradigm change in the practice of surgery and making it the next field where patients can expect to benefit from precision medicine.…”

A Roadmap for Global Acceleration of Genomics Integration Across Nursing

“…They cite the U.K. 100,000 Genomes Project as an exemplar of the application of whole genome sequencing catalyzing developments across the National Health Service. Stark et al (2019) noted that at least 14 countries have invested a combined total of more than $4 billion to establish national genomic medicine initiatives. They contend that accelerating implementation of genomic health care is a global responsibility to enable health benefits for all.…”

“…Built on a collaborative network, it aims to provide guidance and practical support for nurses globally. It was created in response to the acknowledged widespread deficits in nurses’ knowledge and understanding of genomics (Calzone et al, 2018a), also recognizing its increasing importance across nursing (Camak, 2016) and that genomics itself is set to transform the delivery of care for patients (Stark et al, 2019). In this article, as part of our efforts to support transformational change in genomics and healthcare delivery, we aim to present a plan of action (roadmap) for nurse leaders to guide and benchmark strategic developments to integrate genomics across nursing.…”