The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review

Abstract

Genomic healthcare programmes, both in a research and clinical context, have demonstrated a pivotal opportunity to prevent, diagnose, and treat rare diseases. However, implementation factors could increase overall costs and affect uptake. As well, uncertainties remain regarding effective training, guidelines and legislation. The purpose of this rapid evidence review was to draw together the available global evidence on the implementation of genomic testing programmes, particularly on population-based screening and diagnostic programmes implemented at the national level, to understand the range of factors influencing implementation. This review involved a search of terms related to genomics, implementation and health care. The search was limited to peer-reviewed articles published between 2017–2022 and found in five databases. The review included thirty articles drawing on sixteen countries. A wide range of factors was cited as critical to the successful implementation of genomics programmes. These included having policy frameworks, regulations, guidelines; clinical decision support tools; access to genetic counselling; and education and training for healthcare staff. The high costs of implementing and integrating genomics into healthcare were also often barriers to stakeholders. National genomics programmes are complex and require the generation of evidence and addressing implementation challenges. The findings from this review highlight that there is a strong emphasis on addressing genomic education and engagement among varied stakeholders, including the general public, policymakers, and governments. Articles also emphasised the development of appropriate policies and regulatory frameworks to govern genomic healthcare, with a focus on legislation that regulates the collection, storage, and sharing of personal genomic data.

Use of a multi-phased approach to identify and address facilitators and barriers to the implementation of a population-wide genomic screening program

“…IGNITE addressed relative priority through use of data warehousing techniques and prioritizing integration of genomics into the electronic health records. Another review of population screening implementation indicated that lack of integration between genomic data and electronic health records as a critical barrier to implementation [ 21 ]. From the beginning, our program worked closely with the information solutions and biomedical informatics leadership and teams to ensure integration, reducing this as a barrier to our implementation.…”

Investigating genomic medicine practice and perceptions amongst Australian non-genetics physicians to inform education and implementation

“…The growth in genomic medicine is placing increasing demand internationally on the specialist genetics workforce 4 . The most common barrier to implementing large-scale genomic programs is a lack of genomics education and skill in the broader health workforce 5 , strengthening the recognized need for a broader genomic-competent health workforce 6 , 7 .…”

The role of UAE in supporting COVID-19 genomic surveillance across the EMRO for complex emergency countries

“…The COVID-19 pandemic presented an unprecedented challenge to the already strained health system in the Eastern Mediterranean region (EMR), with many countries already struggling with complex emergencies, such as regional or national conflict, political struggles, existing outbreaks, population displacement, poverty and more 1 . Many countries lacked the capacity to rapidly implement diagnostic or genomic support, which limited their ability to assess the national burden of COVID-19 and identify circulating variants of concern, making their informed decisions regarding vaccination and public health interventions more challenging 2,3 . COVID-19 came to the Middle East and North Africa (MENA) region early, with the first instances occurring in the United Arab Emirates (UAE) in January 2021, followed by Iran recording its first case in February 2020, and Yemen the last country to record its first case in April 2020.…”