Our work

Recent work

Selected examples of current or recently completed projects are set out below. See also All our work.

For more information about these or any of our other work please contact us.

 

 

Next steps in the sequence

Next steps in the sequence is the first comprehensive guide to implementing new genome sequencing technologies into UK healthcare. It provides an overview of current and emerging technologies for sequencing whole genomes, their most advanced medical applications, and the wider implications of clinical implementation. Recommendations for actions to ensure the prompt and efficient adoption of whole genome sequencing within the National Health Service (NHS) are made.

However, the sheer quantity and complexity of the information generated by WGS, along with ever-changing understanding of the function of genomes in health and disease, presents new challenges for health systems. To ensure that the opportunities for genomic medicine are promptly, effectively and responsibly harnessed, important questions must be addressed:

"Next steps in the sequence: the implications of whole genome sequencing for health in the UK" is the first comprehensive guide to the clinical impact of these transformational technologies, and makes specific recommendations for prompt and effective adoption within the UK National Health Service (NHS).

How to reference this report: Next steps in the sequence. The implications of whole genome sequencing for health in the UK. Wright C, Burton H, Hall A, Moorthie S, Pokorska-Bocci A, Sagoo G, Sanderson S, Skinner R. PHG Foundation (2011). ISBN 978-1-907198-08-3.

For further information about the report, please contact Dr Philippa Brice.

For members of the media, please contact the PHG Foundation press office on 07505092081.

 

 

Quality standards in risk prediction

Quality standards in risk prediction sets out a practical framework for the evaluation of disease risk prediction models, via assessments in three domains:

  1. The model
  2. The medical context in which it is to be used
  3. Issues relating to clinical implementation of the model

The report is the product of an international expert symposium examining the issue, and also includes consideration of why evaluation is necessary along with case studies and examples in coronary heart disease and dementia.

How to reference this report: Quality standards in risk prediction. Wright C and Dent T. PHG Foundation (2011). ISBN 978-1-907198-05-2.

For further information about the report, please contact Dr Philippa Brice.

For members of the media, please contact the PHG Foundation press office on 07505092081.



 

Genetics and mainstream medicine: service development and integration

Genetics and mainstream medicine sets out a new strategy for the most effective use of genomic knowledge and technologies to benefit patients in different clinical specialties, from cardiology and ophthalmology to neurology and nephrology. It proposes that diffusion from clinical genetics to other areas is not sufficient, and that mainstream medicine must incorporate genetics into their own standard practices instead. Regional genetics services should play a key leadership role.

The work that forms the basis of this report was originally funded by the UK Genetic Testing Network (UKGTN), but the recommendations are the independent view of the PHG Foundation.

A workshop to discuss and take forward the findings of this report will be held for invited experts at the Royal College of Physicians (RCP) in London on 20th June 2011. This event is organised by the Joint Committee on Medical Genetics of the Royal College of Physicians, Royal College of Pathologists and British Society for Human Genetics, in conjunction with the PHG Foundation and the National Genetics Education and Development Centre.

How to reference this report: Genetics and mainstream medicine. Burton H. PHG Foundation (2011). ISBN 978-1-907198-07-6.

For further information about the report, please contact Dr Philippa Brice.

For members of the media, please contact the PHG Foundation press office on 07505092081.

 

 

 

Public health in the genomic era – a global issue

A new PHG Foundation report is based on an international, multidisciplinary expert summit held in the UK in May 2010.

Genomic medicine is an international issue; experts called for increased collaboration between different countries and recommended that appropriate health-related genetic services and research should be fostered in lower and middle-income countries (LMIC). Although financial resources are limited, there is increasing scope to put in place simple, useful services that can benefit patients.

For example, the PHG Foundation birth defects programme is helping people from LMICs to plan affordable services to reduce the substantial suffering caused by a wide range of birth defects with primarily genetic causes.

New efforts to integrate genomics into public health research and practice, including creation of research infrastructure for generating an evidence base for genomic medicine, were also proposed.

How to reference this report: Public health in an era of genome-based and personalised medicine. PHG Foundation (2010). ISBN 978-1-907198-06-9.

For further information about the report, please contact Alison Hall

Please direct media enquires to the PHG Foundation press office on +44 (0)7505092081

 

 

 

Expanded newborn screening: A review of the evidence

Expanded newborn screening: A review of the evidence is a systematic review of the evidence to support expansion of current UK newborn screening provision to include any of five additional forms of inherited metabolic disease (IMDs). These rare disorders could all be screened for using tandem mass spectrometry (MS/MS) techniques already in use for screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD), and are considered by laboratory and clinical experts to be priority conditions.

The Report includes analysis of the probable benefits, harms and costs of expanding newborn screening to include each of these five conditions, and of the steps needed before any change to the existing service could be implemented. The findings and recommendations of the Report were originally presented to the UK Newborn Screening Committee in March 2010.

This work was funded by the National Institute for Health Research (NIHR) Collaboration for Leadership in Applied Health Research and Care, South Yorkshire (CLAHRC-SY).

How to reference this report: Expanded newborn screening: A review of the evidence. Burton H, Moorthie S. PHG Foundation (2010). ISBN 978-1-907198-03-8.


For further information about the report, please contact Dr Hilary Burton.


For members of the media, quotations and contact details for authors and relevant experts are available; please contact the PHG Foundation press office on 07505092081.

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Independent response to House of Lords Science and Technology Committee Genomic Medicine report

In July 2009, the UK House of Lords Science and Technology Committee published Genomic Medicine, a report looking at advances in genomics and their implications for health care, and calling for the development of a strategic vision for genomic medicine in the UK.

The PHG Foundation, which provided evidence cited in the original report, subsequently led an initiative to produce an independent expert response, in collaboration with theCentre for Science and Policy (CSaP) at the University of Cambridge. This Independent Response sets out the findings from a group of scientists, clinicians, policy makers and experts in ethics, law and social science, and their key recommendations for the strategic development and successful implementation of genomic medicine within the UK, aimed at Government and other policy groups.

How to reference this report: Genomic Medicine: An Independent Response to the House of Lords Science and Technology Committee Report. PHG Foundation (2010). ISBN 978-1-907198-04-5
 

For further information about the report, please contact Dr Caroline Wright.
 

For members of the media, quotations and contact details for authors and relevant experts are available; please contact the PHG Foundation press office on 07505092081.

Additional information:

 

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Predicting the risk of coronary heart disease with conventional, genetic and novel molecular biomarkers

Predicting the risk of coronary heart disease with conventional, genetic and novel molecular biomarkers aims to answer three major questions for those seeking an evidence-based approach for assessing individual risk of coronary heart disease:

  1. How should risk be assessed?
  2. Which biomarkers should be incorporated into risk assessment?
  3. Can genetic information improve risk prediction?

The report goes on to explore the implications of its findings for the appraisal and use of biomarkers more generally.

How to reference this report: Predicting the risk of coronary heart disease with conventional, genetic and novel molecular biomarkers. Dent, T. PHG Foundation (2010). ISBN 978-1-907198-02-1

For further information about the report, please contact Dr Tom Dent.

For members of the media, quotations and contact details for authors and relevant experts are available; please contact the PHG Foundation press office on 07505092081.

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Heart to Heart: Inherited Cardiovascular Conditions Services

Heart to Heart: Inherited Cardiovascular Conditions Services is the final report from a needs assessment and review of current clinical services in the UK for patients with inherited cardiovascular conditions and their families. It was funded and produced by the PHG Foundation, in partnership with an expert Working Group that included cardiologists, geneticists, and representatives of patient organizations the Cardiomyopathy Association, CRY, the Marfan Association UK, SADS UK and the British Heart Foundation.

Following on from this report, the PHG Foundation was asked to produce commissioning guidelines for inherited cardiac conditions (ICC) services by the Department of Health, and the Specialised Commissioning Group (SCG) Directors subsequently agreed to designate ICC services as a priority for 2010/11.

The work of the PHG Foundation in this area was also recognised by the 2009 ERBI NHS Partnership Award,sponsored by the NHS East of England; for more information, see press release (PDF).

How to reference this report: Heart to Heart: Inherited Cardiovascular Conditions Services - A Needs Assessment and Service Review. Burton H, Alberg C, Stewart A. PHG Foundation (2009). ISBN 978-1-907198-01-4

For further information about the report, please contact Dr Philippa Brice.

For members of the media, quotations and contact details for authors and relevant experts are available; please contact the PHG Foundation press office on 07505092081

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Tay Sachs Disease carrier screening in the Ashkenazi Jewish population

Tay Sachs Disease carrier screening in the Ashkenazi Jewish population is the final report from a needs assessment and review of current clinical services in the UK. It was commissioned by the UK Newborn Screening Programme Centre, and produced jointly by staff from the PHG Foundation and the Guy’s and St Thomas’ NHS Trust Clinical Genetics Service, working with a steering group of other experts and patient representatives.

 

How to reference this report: Tay Sachs Disease carrier screening in the Ashkenazi Jewish population: A needs assessment and review of current services. Burton H, Levene S, Alberg C, Stewart A. PHG Foundation (2009). ISBN 978-1-907198-00-7

For further information about the report, please contact Dr Philippa Brice.

For members of the media, quotations and contact details for authors and relevant experts are available; please contact the PHG Foundation press office on 07505092081.

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Cell-free fetal nucleic acids for non-invasive prenatal diagnosis

Cell-free fetal nucleic acids for non-invasive prenatal diagnosis is the result of a project funded and led by the PHG Foundation. An expert Working Group including GPs, obstetricians, midwives, geneticists, NHS commissioners, public health experts, ethicists and patient representatives met over the course of 2008 to consider the use of cell-free fetal nucleic acid technology for non-invasive prenatal diagnosis (NIPD). In addition to the current scientific and clinical status of the technology, they also looked at ethical, social and legal implications, and key issues associated with implementation in the NHS.

This report was presented to the Joint Committee on Medical Genetics (JCMG) of the Royal College of Physicians in January 2009.

How to reference this report: Wright, C. Cell-free fetal nucleic acids for non-invasive prenatal diagnosis, Report of the UK expert working group, PHG Foundation (2009)

Report appendix III: Ethical, legal and social issues associated with the use of cell-free fetal nucleic acids for non-invasive prenatal diagnosis

For further information about the report, please contact Dr Philippa Brice.

For members of the media, full quotes about the report and contact details for selected key members of the working group are available; please contact the PHG Foundation press office on 07505092081.

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Genetics in ophthalmology

Ophthalmology report

In 2006 the UK Genetic Testing Network (UKGTN) asked us to participate in a Working Group on Genetics in Ophthalmology to undertake a needs assessment for genetic testing for diseases of the eye. The work included a review of genetic testing, a service review and consideration of the clinical utility and prioritisation of genetic tests in the context of ophthalmology, in order to provide a concrete example through which generic questions about genetics in mainstream medicine might be addressed.

The final report provides a practical illustration of the opportunities offered both now and in the near future, the ways in which health services need to adapt and develop in order to take advantage of the new science, the opportunities and barriers they face and some of the policy options that will be important in shaping future services.

Although the body of the report is specific to ophthalmology, many general concepts, such as those of clinical utility in genetic testing, problems in developing genetic tests and the work on new technologies are applicable in most clinical areas.
 

 


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Last Updated: 10 September 2010