Global implementation of genomic medicine: We are not alone

Abstract

Advances in high-throughput genomic technologies coupled with a growing number of genomic results potentially useful in clinical care have led to ground-breaking genomic medicine implementation programs in various nations. Many of these innovative programs capitalize on unique local capabilities arising from the structure of their health care systems or their cultural or political milieu, as well as from unusual burdens of disease or risk alleles. Many such programs are being conducted in relative isolation and might benefit from sharing of approaches and lessons learned in other nations. The National Human Genome Research Institute recently brought together 25 of these groups from around the world to describe and compare projects, examine the current state of implementation and desired near-term capabilities, and identify opportunities for collaboration to promote the responsible implementation of genomic medicine. The wide variety of nascent programs in diverse settings demonstrates that implementation of genomic medicine is expanding globally in varied and highly innovative ways. Opportunities for collaboration abound in the areas of evidence generation, health information technology, education, workforce development, pharmacogenomics, and policy and regulatory issues. Several international organizations that are already facilitating effective research collaborations should engage to ensure implementation proceeds collaboratively without potentially wasteful duplication. Efforts to coalesce these groups around concrete but compelling signature projects, such as global eradication of genetically-mediated drug reactions or developing a truly global genomic variant data resource across a wide number of ethnicities, would accelerate appropriate implementation of genomics to improve clinical care world-wide.

The Genomic Medicine Alliance: A Global Effort to Facilitate the Introduction of Genomics into Healthcare in Developing Nations

“…The GMA has several unique features as a research network, in which it differs from existing consortia and initiatives in this field [Manolio et al, 2015]. First, membership is free of charge, which is particularly usefulimportant to attract members from low-resource environments.…”

“…Genomic medicine aims to utilize the individual's genomic information to support the clinical decision-making process [Manolio et al, 2015]. In recent years, significant advances have been made to in understanding the molecular basis of a wide range of human inherited diseases and cancers with the potential to improve disease prognosis and treatment [Kilpinen and Barrett, 2013].…”

Population-scale sequencing and the future of genomic medicine: Learning from past and present efforts

“…Various infrastructural developments have subsequently laid the groundwork for the eventual implementation of genomic medicine nationwide: in 2002 Estonia introduced compulsory national electronic identification cards; in 2010 a digital prescription service was launched; and the progressive linking of health-related databases including those of the Estonian Biobank, various national healthcare providers, hospitals and other registries has built up the Estonian National Health Information System, creating individual electronic health records (EHRs) for every patient (Leitsalu, et al 2015, 103). Between 2015 14 See McCarthy et al (2013); Deloitte (2015); Milani et al (2015); Manolio et al (2015).…”

“…Frequently cited issues relate to test reliability and validity, cost-effectiveness, health system and workforce readiness, and regulatory and ethical concerns (McCarthy et al 2013;Deloitte 2015;Milani et al 2015;Manolio et al 2015).…”

Implications of direct-to-consumer whole-exome sequencing in South Africa

“…Indeed, this is the course that will be taken by President Barack Obama' s Precision Medicine Initiative, [8] led by the National Institutes of Health, and the Genomics England Initia tive. [9] Similar to these large public research initiatives, private enterprises such as HLI (Discovery' s partner) also strive to sequence millions of genomes in order to potentially fast-track drug discovery and improvement through partnerships with pharmaceutical companies. However, in this case it is with the stated additional purpose of commercial gain.…”