NEW YORK (GenomeWeb News) – The Foundation for Genomics and Population Health (PHG Foundation) in a new report has laid out a strategy it says the UK should pursue to enable the "responsible and effective" implementation of whole genome sequencing in clinical practice within the National Health Service.
PHG's report, released today, proposes a number of recommendations that NHS should begin to implement to meet some key challenges that will follow along with the arrival of whole genome sequencing in the clinic, such as the need for new biomedical expertise and resources, clinical databases, and improved capabilities for interpreting genomic data.
These recommendations suggest that NHS create a national biomedical informatics institute and hire more bioinformaticians; that NHS plan to use sequencing tests initially to replace ones that are more expensive; and that it create a small modular network of sequencing labs in different regions that would provide their services to NHS, among other proposals.
With the report, PHG sought to provide an overview of the WGS field and to draft a strategy to enable NHS to harness this technology to improve patient care.
"We're only scratching the surface of what WGS technology can do for us … but there are problems about using it in the NHS, and the biggest problem is that we don't know what to do with it," James Peach, director of Stratified Medicine at Cancer Research UK, said in a PHG Foundation statement.
The research project, which was funded in part by Illumina and The Wellcome Trust, found that next-generation sequencing technologies will be routine in the clinic in the near future, particularly as a replacement for technologies for specific genetic analyses where the cost of doing sequencing is cheaper than other methods, such as multi-gene panels.
The PHG researchers also found that the arrival of these new tools in the clinic does not necessarily raise any fundamentally new ethical issues, although some issues will need to be addressed "urgently" and widely, such as the scope of informed consent and dealing with WGS information that is additional to the immediate clinical question in cases of minors.
The PHG authors recommended that NHS should begin implementing NGS technologies in the medium to short term in cases where it is cheaper than existing tests, specifically for diagnosing diseases with a strong hereditary component and in cancer management.
For the time being, they advised that NHS should not be interrogating genomic data more extensively for preventive purposes and in cases where there is no clinical indication, and they say that a system should be created to develop, agree upon, and maintain a method for filtering and prioritizing specific variants for testing.
The speed with which next-gen sequencing has advanced has resulted in a massive data glut that will only grow, according to the report, and so the authors recommended that NHS "urgently" develop its clinical bioinformatics expertise and infrastructure to support clinicians. The best way to pursue that goal would be to create a National Biomedical Informatics Institute and to employ bioinformaticians in local clinical services, the PHG report urged.
These bioinformaticians are needed to develop methods to facilitate clinically targeted genomic analyses, to curate a database of variants and a standardized method for comparing phenotype data, and to support local health professionals and labs to interpret data, the report suggested.
NHS will need an evidence base to enable clinical interpretation of NGS data, central and anonymized data storage capabilities, and funding and infrastructure to distinguish and interpret normal and pathogenic genetic variation, the authors advised. The report also proposed that a formal evaluation mechanism will be required to select and validate the variants that should be included within directed genomic tests for specific conditions.
In addition, PHG said that there is a need for more policy research and for a guidance plan for the clinical use of WGS. That guidance would clarify professional practices with respect to consent practices, the types of analyses that will and will not be conducted, the results that will and will not be reported back to patients, and how this data will be re-examined in light of new scientific knowledge.
The report recommended that NHS develop competencies and best practices guidelines for healthcare professionals that would guide them in how to translate WGS information to patients. However, the authors do not currently see a need for special accreditation or education requirements specifically covering WGS.
PHG also suggested a modular system involving a small number of sequencing labs or providers that would act as regional hubs to provide national coverage to NHS. These sequencing providers could include public-private partnerships, collaborative partnerships with academic centers, or even private providers that would essentially sell genome sequences to NHS.
The authors also suggested that "clear and transparent" commissioning pathways be created to enable the next-gen sequencing technologies to be "accessed and delivered effectively and equitably."
Lastly, the PHG authors suggested that policy research should be conducted to consider under what circumstances wider genome screening might be offered, what the clinical and analytical validity such tests would have for the relevant populations, and what is the capacity of the health services to respond to those testing positive at these tests.