PRECeDI: Personalized prevention of chronic diseases (WC2014-069)

Background

In 2014 the Personalized pREvention of Chronic DIseases consortium (PRECeDI) obtained funding from the European Commission [1]. The consortium aims to generate multidisciplinary knowledge through exchange of staff involved in training and research on the prevention of chronic diseases.

VUMC is responsible for Work package 5, receiving secondees from our partners. VUMC staff is seconded to our partners to collaborate on other Work packages.

Task 5.1 focuses on the responsible translation of new genomics technologies in the context of screening of healthy adults. The aim is to produce a sociotechnical analysis describing relevant actors and their arguments involved in balancing pros and cons of informing healthy individuals on their genome.  In a sociotechnical analysis the role of  different stakeholders is studied to understand how a technology, such as genetic testing, becomes part of, and shapes, a new health care practice. Therefore such an analysis is a useful tool to better understand and improve translation. For this task we focus on Familial hypercholesterolemia, an autosomal dominant disorder characterized by high levels of serum cholesterol, caused by gene mutations (LDLR,APOB,PCSK9), leading to premature atherosclerosis and cardiovascular problems. . Prevalence ranges between 1:240 and 1:500 world-wide; currently, FH is underdiagnosed and undertreated. The risk of cardiovascular events can be reduced by medication via statins and adopting a healthy lifestyle. First degree family members have a 50% chance of also inheriting the same mutation. Genetic screening of family members allows for personalized prevention, and it is paramount to find and inform them members timely. This can be done via the index patient him- or herself or a health care professional. The latter option was available in the Netherlands as part of a national screening programme that lasted until 2014; the program was highly regarded internationally. The funding of the programme ended, as originally planned, but one of the official arguments was that it is problematic to continue to actively trace family members and visit them at home. Unfortunately the number of family screenings dropped considerably after the programme ended while the model was adopted that the index patient should inform the family members. We identify stakeholders and conduct interviews discussing pros and cons of different models of informing family members both in practical and ethical terms. 

Task 5.2 zooms in on a particular setting to study attempts to inform more risk carriers about their genome in more detail. The focus is on oncogenetics,  and we study the role pathologists have as key stakeholder in hereditary colorectal cancer or Lynch syndrome, which accounts for about 3% of all CRC. Many LS patients are not recognized as mutation carriers nowadays, and their family members are unaware that they also have 50% chance to carry the mutation, so they cannot profit from risk reducing interventions (colonoscopy screening and aspirin prophylaxis). To improve finding the index patients in recent years internationally new guidelines have become available to screen all new cases of colorectal cancer for Lynch syndrome via immunohistochemistry and/or microsatellite instability testing by the pathologist. When these screening tests indicate the patient might have LS the clinical geneticist is involved and a germline DNA test can be requested. In theory this allows for more efficient use of resources, but calls for a completely new routine and new collaborations in (genetic) health care. For this deliverable we compare experiences with the implementation of this new guideline in the United Kingdom and the Netherlands, to identify barriers and facilitators for successful integration of genetics in health care.

On 15 March 2018 the PRECeDI project will organise an Open symposium:

Policy development in Personalized Medicine
March, 15th, 2018
VU University, Boelelaan 1105, Amsterdam, E wing, 1st floor, room 1E-24, ‘Filmzaal’

[1] EC Horizon 2020 research and innovation programme MSCA-RISE-2014: grant agreement N°645740.
http://www.precedi.eu/site/index.php

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