Ethics report - PHG

About PHG Foundation

The PHG Foundation forms a part of the University of Cambridge and is an independent health and science policy think tank with a special focus on emerging health technologies. For over 20 years we have pioneered forward-looking research and analysis into the impact of biomedical innovation on healthcare in the UK from a scientific, clinical and societal perspective. We are an acknowledged world leader in facilitating and supporting policy development that drives the effective and responsible translation and application of genomic and other technologies to improve the health of populations. 

Our team of medical, scientific, public health and ethical/legal/regulatory experts are continuously engaged in horizon scanning to identify emerging technologies and techniques that warrant evaluation of their impact on healthcare.

Our work for Mendelian

Mendelian is a company which uses computer algorithms to help identify rare disease patients. One of its tools is a platform to mine existing electronic patient records to detect phenotypic symptoms with those in Mendelian databases, which may identify individuals at risk of having an undiagnosed rare disease. Current diseases under review include seven rare diseases including Fabry disease, Duchenne Muscular Dystrophy and Gaucher disease, and one genetic condition (Familial Hypercholesterolemia). 

PHG Foundation is working with Mendelian to investigate the legal, regulatory and ethical aspects of using the Mendelian tool in an NHS context with a cohort of patients who have not had previously been investigated or been offered genetic testing. This possibility raises challenges, particularly around screening/case finding, effective de-identification of personal data, consent and communication of results.

Report on ethical issues arising from the use of electronic patient records in prospectivescenarios

In this report, PHG Foundation will conduct an ethical evaluation comprising consideration of the issues from using the tool as described in a project plan setting out the process for deployment¹. This report is limited to the ethical issues arising from the seven rare genetic diseases and will consider familial hypercholesterolemia, because this raises a different set of issues. The report will include:

• The role of consent in implementing the Mendelian tool in primary care
• The ethical issues associated with screening for conditions that are individually likely to have very low population prevalence
• The ethical issues arising from the communication and management of true and false positive and true and false negative results
• Managing potentially clinically actionable findings
• The extent to which use of this tool is consistent with existing professional guidance

Work on the report is currently in hand and will be delivered to Mendelian in summer 2019.

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