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SUMMARY:Genetics and genomics: focus on value - Professor Martina Cornel\,
  Clinical Genetics &amp\; Amsterdam Public Health research institute\, VU 
 University Medical Center\, Amsterdam 
DTSTART:20171006T120000Z
DTEND:20171006T130000Z
UID:TALK84671@talks.cam.ac.uk
CONTACT:Rosa Attwood
DESCRIPTION:In the last decades technical developments have increased the 
 number of genetic tests that are available. Furthermore\, the price of gen
 ome information has dropped very fast. However\, our understanding of the 
 implications of genome variation and the Human Resources to communicate wi
 th patients and healthy persons at risk have not developed at similar pace
 . If we have a limited number of expert clinical geneticists in our health
  services\, as well as limited funding for testing in the health services\
 , we need to decide how to prioritize.\n \nOne way to move forward is “m
 ainstreaming”: equipping non-genetic-expert clinicians to inform patient
 s about relevant issues of genetics and genomics. In the UK examples inclu
 de the testing of ovarian cancer patients for BRCA1 and BRCA2 in routine c
 ancer clinics. In the Netherlands DNA-testing for familial hypercholestero
 laemia can be ordered by primary care physicians. Genetic knowledge and sk
 ills for health care practice need strengthening. E-learning modules are a
 vailable at www.primarycaregenetics.org in six languages\, including Engli
 sh\, Dutch and Italian.\n\nAnother question is how to decide on priorities
 . The European Society of Human Genetics together with health economists c
 onsidered that prioritization should be based on considerations of medical
  benefit\, health need and costs. Medical benefit includes evidence of ben
 efit in terms of clinical benefit\, benefit of information for important l
 ife decisions\, benefit for other people apart from the person tested and 
 the patient-specific likelihood of being affected by the condition tested 
 for (EJHG 2015\;23:729). Thus whole genome sequencing for conditions where
  the likelihood of identifying a meaningful variant might not be prioritiz
 ed over cascade testing of relatives of FH and BRCA mutation carriers. In 
 the latter cases a high a priori risk (positive predictive value) is combi
 ned with proven increases of life expectancy.\n\nIn discussions about the 
 value of genetics and genomics we should discuss three elements: the techn
 ical value\, but also allocative value and personal value. Are services av
 ailable in an equitable way? Are we spending our money where most people n
 eed our services? What are preferences of patients and healthy persons? Ge
 nomic research has largely been focussed on populations of European descen
 t. We should integrate genomic knowledge into health care that benefits ev
 eryone. \n\nThis seminar will be chaired by Dr Mark Kroese\, Deputy Direc
 tor\, PHG Foundation.  \n\n
LOCATION:Large Seminar Room\, 1st Floor\, Institute of Public Health\, Uni
 versity Forvie Site\, Robinson Way\, Cambridge
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