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PHG Urges New NHS Genetics Paradigm

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – The United Kingdom's National Health Service needs to take a new tack in its efforts to integrate medical genetics and genomics into mainstream clinical care, according to a new report from the Foundation for Genomics and Population Health (PHG Foundation).

Currently, genetics and genetic testing services are "very good" when they are available, but "access is very variable, and too many patients miss out," PHG Foundation said in a statement accompanying the report.

In order for genetics to fulfill its potential use, PHG Foundation argues, a "new paradigm" is needed that emphasizes not how genetic tests are integrated into mainstream medicine, but how mainstream medicine adopts "genomic knowledge and technologies as part of their standard care pathways and professional training."

"In the twenty-first century, genetics is no longer an optional extra, and must become a key element of mainstream services," PHG Foundation said in its statement.

The foundation conducted a review between 2006 and 2009 of two clinical areas in which diagnosis and management of inheritable disorders are already important — cardiovascular disease and ophthalmology — that focused on how genetics is being used in patient care.

"We found that joint clinics with geneticists and other clinical experts provide excellent care and are highly regarded by patients and families," the foundation said in the report. "However, our findings also showed that access to such services is highly variable across the UK, and current inequity is likely to worsen as the demand for input from clinical genetics to other specialties increases."

The current NHS approach to integrating genetics tools, PHG Foundation said, was laid out in part in the UK government's 2003 Genetics White Paper and now is "not working effectively."

The Foundation's report broadly proposes developing guidance and clinical pathway development for areas with significant inherited disease elements; developing a program to ensure access to specialized services for inherited diseases within certain clinical specialty areas; reviewing how genetic tests are being provided and how family histories are used; developing sub-specialization by health professionals in specific inherited disorders; providing effective and ongoing genetics support for other clinical services; and starting audit and research programs to evaluate effectiveness and cost-effectiveness of inherited disease services.

The PHG Foundation sees the large numbers of patients affected by inherited diseases and the multiplicity of genes involved in those diseases, as well as the complex nature of genotype-phenotype associations, as posing new and unique challenges to the health care system.

The foundation has urged NHS to develop a range of clinical services that "would provide a solid foundation for the later integration of wider genomic technologies, such as those now being developed for stratified medicine in a range of conditions, into clinical practice."

Specifically, the report recommends:

• In areas with substantial inherited disease elements, a proposed National Commissioning Board should develop guidance for specialized services and for integrating pathways between primary, secondary, and specialist care;

• Specialized services should be developed equitably across the UK in order to increase the overall capacity of genomic medicine uptake;

• Clinical networks should be developed to support specialized inherited conditions services to ensure swift translation of new technologies and the best use of expertise;

• There should be a review of how genetic testing use is responding to increasing demand, a process that would include how labs can best respond to increased demand, how quality can be maintained in NHS services; the development of mechanisms for funding and providing genetics tests; and how genetic tests should be evaluated and regulated;

• A new workforce of specialists should be developed that can provide services focused on inherited diseases and can strengthen primary and secondary care;

• And methods for appropriate family record keeping should be developed and evaluated for clinical specialties beyond genetics, and policymakers should address questions about how data is shared, particularly in relation to the increased use of electronic medical records.

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