Colloquium APH (former EMGO+ ) research group Community Genetics
PRECeDI Project – A systematic review on the cost effectiveness of genetic screening for Familial Hypercholesterolemia -
Annalisa Rosso, MD, MScPH, Resident in Hygiene and Preventive Medicine
Department of Public Health and Infectious Diseases
Sapienza University, Rome
The Personalized pREvention of Chronic DIseases consortium (PRECeDI) project is funded by the European Commission and aims to provide multidisciplinary knowledge through training and research in Personalized Medicine (PM), with specific reference to prevention of chronic diseases. http://www.precedi.eu/site/index.php
Within PRECeDI activities, the Sapienza research group is involved in the review of the cost-effectiveness analysis of different genetic programs.
Familial hypercholesterolemia (FH) is a genetic disorder that leads to elevated plasma LDL-cholesterol levels and premature coronary heart (CHD) disease. An understanding of the mutations responsible for FH and the effectiveness of statins in lowering the risk of CHD in FH patients has increased interest in genetic screening strategies to improve FH diagnosis. We therefore performed a systematic review of published economic evaluations on genetic screening for FH to evaluate the cost-effectiveness of such strategies.
Sociotechnical analysis about informing healthy family members in case of familial hypercholesterolemia -
Péter Pikó, MSc, PhD student in Faculty of Public Health
Department of Preventive Medicine, University of Debrecen, Hungary
In The Netherlands from 1994 to 2014 a well-known nationwide cascade screening has been carried out to trace families with a pathogenic variant causing familial hypercholesterolemia. Pleas have been made to reinstate the programme, as the number of family members identified and tested dropped considerably after 2014. However, in 2016 the Minister of Health decided not to reinstate the programme; tracing family members should remain part of regular health care. The index patient should inform family members, as is practice in hereditary cancer care, but may be supported by the health care professional.
For my secondment for the Personalized pREvention of Chronic DIseases consortium (PRECeDI) I helped prepare a sociotechnical analysis of how stakeholders balance pros and cons in informing healthy individuals on their genome (primary prevention healthy family members). Focus will be on how actively healthy family members of index patients can or should be traced and informed on genetic testing.
Location: Room G528, Medical Faculty Building, VUmc, Van der Boechorststraat 7,
Amsterdam (At the entrance, take the elevator to 5th floor, follow G corridor).
Visitors from outside VUMC are very welcome!
RT @EricHennekam: Bezig met een koppelingsonderzoek 4 families met zeldzame mutatie. En als je dan ziet wat voor fouten je tegen komt in st…