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The Forefront of Genomics

Here we summarise a recent perspective, published in Nature, that has outlined the highest-priority elements in NHGRI’s vision for improving human health at ‘The Forefront of Genomics’.

A pioneering journey

Over three decades ago, a pioneering group of international researchers began a journey to create the first map and sequence of the human genome. The completion of the Human Genome Project in 2003, catalysed enormous progress in genomics research. Since then, alongside the reduction in sequencing costs, genomics research has boomed. Researchers have been able to generate rich catalogues of human genomic variants, gain deeper insights into the functional complexities of the human genome and also determine the genetic basis of thousands of human diseases. As a result, the past decade has led to the realisation of genomic medicine as research successes have been translated into powerful tools for clinical use.

Genomics has now become increasingly integrated into biomedical research, medical practice and society. The scale and pace of genomic advances were previously unimaginable when the Human Genome Project began. So, who knows what the next decade will bring?!

The Forefront of Genomics

The National Human Genome Research Institute (NHGRI) in 2003 and again in 2011, developed their strategic visions for the field. These visions outlined the most compelling opportunities for human genomics research. They now aim to start the new decade with an updated strategic vision. The institute collected input from a large number of stakeholders through various events, including workshops, conference sessions and webinars. From, this the NHGRI developed a newly conceived organisational mantra: ‘The Forefront of Genomics’. This mantra was linked to the strategic planning process to help guide the formulation of input. The resulting input synthesised the following framework:

Guiding principles and values

As the discipline has matured, the field has embraced a growing set of fundamental principles and values that guide research efforts. Many of these have been informed by ELSI research. Future research must explore present challenging questions, including legal boundaries, study governance, data control, privacy and consent. Other areas should also explore the future in which machine learning and artificial intelligence are used in clinical decision making. The authors provided a more detailed outlook, summarised below:

  • Maintain an overarching focus on using genomics to understand biology to improve our knowledge about disease and human health
  • Strive for global diversity in all aspects of genomics research
  • Maximise the usability of genomics for all members of the public
  • Champion a diverse workforce
  • Provide a research framework that examines the roles of genomics and non-genomic contributors
  • Promote robust and consistently applied standards
  • Embrace interdisciplinary teams
  • Adhere to highest expectations and requirements related to open science, responsible data sharing and reproducibility
  • Pursue advances in genomics

Robust foundation for genomics

Genomics is now routinely and broadly used throughout biomedical research. There is a widespread reliance on a robust foundation for facilitating genomics advances. The integrity of this foundation depends on several key elements. These include infrastructure, resources, and dynamic areas of technology development and research. It is a key responsibility to sustain and improve this foundation. The major elements are summarised below:

  • Genome structure and function:
    • Enable generation and analysis of increasingly complex genomic data
    • Use evolutionary and comparative genomic data to maximise understanding of genome function
  • Genomic data science:
    • Develop new methods and build sustainable data resources
    • Ensure simplistic storing, sharing and computing
    • Develop integrated knowledge bases and informatics methods
  • Genomics and society:
    • Understand the relationships between genomics and social and environmental factors
    • Empower individuals to make informed decisions
    • Increase the genomic literacy of all sectors of society
  • Training and genomics workforce development:
    • Ensure the next generation of scientists are sufficiently trained in data science
    • Train healthcare providers to integrate genomics into clinical workflow
    • Foster a diverse workforce

Breaking down barriers

The proactive identification of major obstacles impeding progress has benefited genomics immensely. For example, the call for the ‘$1,000 human genome sequence’. The authors noted several examples which could help accelerate progress, summarised below:

  • Laboratory and computational technologies:
    • Enhance scale of DNA synthesis and editing to study functional consequences of genomic variant
    • Leverage the usability and utility of emerging datasets
  • Biological insights:
    • Establish the means to determine the functional consequences of genomic variants
    • Characterise intraindividual genomic variation
  • Implementation science:
    • Develop and assess strategies for implementing the use of genomic information in clinical care
    • Test public health approaches for implementing population-wide genomic screening

Compelling genomics research projects

The genomics field has benefited from ambitious research efforts, that at the time, may have seemed out of reach. This innovation has stimulated interest in emerging opportunities, enabled international collaborations and overall propelled the field forward.  Illustrated below is a range of projects that are key for pursuit:

  • Gain a comprehensive view of the roles and relationships of genes and regulatory elements in pathways and networks
  • Determine the genetic architecture of most human diseases and traits
  • Design studies that include diverse ancestral populations
  • Understand how genomics can influence concepts of health, disease, responsibility, identity, family and community
  • Extend multi-omic studies into clinical settings
  • Design and use genomic learning healthcare systems for knowledge generation and improvements in clinical care.


Since the Human Genome Project, the field has seen amazing technological advances and high-profile programmatic successes. This has led to the widespread integration of genomic methods and approaches across the life sciences, and increasingly, into medicine and society. The NHGRI for the third time have provided strategic opportunities for the next phase of genomics – with a particular emphasis on elements relevant to human health. The growing adoption of genomic approaches and technologies in the global response to the ongoing COVID-19 pandemic has emphasised the importance of genomics in modern research and medicine. It is fascinating to think what another decade of genomics will bring!

Image credit: By Vectorarte –

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Ethics / Genomics / Human Genome Project