The PHG Foundation has long-standing expertise in the evaluation, regulation and application of genetic tests. This is in addition to our work programmes on clinical whole genome and whole exome analysis and on new ethical, legal and social issues associated with realising genomics in clinical practice.

In addition to ongoing contributions to national policy work in genetic testing and screening, our current projects fall into two groups:

Non-invasive prenatal testing

Technological developments in the use of foetal DNA fragments present in the maternal blood for genetic testing and diagnosis are likely to have a transformative effect on the way in which current national prenatal screening programmes for Down’s syndrome are delivered.

The PHG Foundation is a partner in the current RAPID (Reliable Accurate Prenatal non-Invasive Diagnosis) UK research programme funded by the National Institute for Health Research. Our contribution is focused on the implications of research findings for prenatal screening and strategic implementation planning.

This follows on from our pivotal 2009 report on non-invasive prenatal testing, the first ever appraisal not only of current and potential future applications, but also of their implications for health services, including ethical, legal, social and logistic considerations:


A microarray-based technology called array comparative genomic hybridization or array CGH is widely used in genetics laboratories to analyse panels of potential mutations.

Arrays are currently being used for prenatal analysis of fetal DNA where a chromosomal or genetic abnormality of any kind is suspected; their value when compared with the traditional method of analysis (karyotyping) is under review.

We are involved in ongoing work to support the implementation of this technology for the investigation of potential genetic causes of learning disability in children. At present the focus is on health economic analysis.

Mark is responsible for our core work programme, and contributes both to our corporate and strategic management as well as to individual projects. His specialist interests are in the implementation and evaluation of innovations in healthcare.

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