Informed opinions and decisions about genetic testing and technology

Why was this group formed?

Prenatal genetic testing informs couples about possible health problems of their unborn child. Recently, the scope of possible outcomes has significantly broadened, even including outcomes of uncertain meaning. Strong concerns exist that information overload will psychologically burden future parents and will impede their reproductive autonomy. Such concerns deserve scientific scrutiny. We aim to answer these questions ”What do pregnant couples want to know about the (future) health of their unborn child? Are pregnant couples able to make informed decisions when the scope of prenatal genetic testing is broadened? What is the psychological impact of receiving uncertain test results?

What is the overall aim?

Right now, human genome editing (HGE) technology causes heated ethical discussions. Extensive research is convincingly showing the potential for treating serious (mono)genetic disease. Broad consensus exists that human genome editing technology requires a public dialogue. Such dialogue is only meaningful when its participants exchange informed opinions about HGE. However, the general public is currently quite unaware. Our focus is therefore expanding from patients’ informed decision-making about genetic technology to enabling the general public to have informed opinions about HGE technology.

What type of research do you focus on in this group?

Our group conducts both qualitative and quantitative research. We gather data by interviews and focus groups with patients, experts and lay people. In addition, we assemble data using online questionnaires that may be standardized or that we have developed specifically for our studies, e.g. the prenatal informed decision-making questionnaire (PRENID) and a questionnaire to assess informed opinions about human genome editing. Most of our studies are of exploratory nature and include the people whom the topics of our research really concern (e.g. pregnant couples; patients possibly benefiting from human genome editing in the future).

1) ‘Public dialogue about human germline editing’
(2019-2021; Ministry of Health, Welfare and Sport)

2) ‘Dealing with uncertainty in prenatal genomics: an international comparison study’
(2018-2019; Wellcome Trust: Small grants in Humanities and Social Sciences)

3) ‘Towards an ethically robust scope of Non Invasive Prenatal Testing (NIPT)
(2016-2020; ZonMw 70-73000-98-116)

4) ‘Broadening the horizon of non-invasive and invasive prenatal genetic testing; do pregnant couples want more?’ (2013-2019; Stichting Prenatale Screening Zuidwest Nederland)

• Offering a choice between NIPT and invasive PND in prenatal genetic counseling: the impact of counselor characteristics on patients test uptake
• Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?
• The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences
• Pregnant Couples at Increased Risk for Common Aneuploidies Prefer Maximal Information From Invasive Genetic Testing
• The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array
  Analysis in Prenatal Testing
  
   
  
  
  

• Dept. of Obstetrics and Gynecology
• Dept. of Medical Ethics
• Dept. of Psychiatry & Medical Psychology

Collaboration outside Erasmus MC

• BovenMaas Prenataal, Mr E. Smith. https://bovenmaasprenataal.com
• Afdeling Klinische Genetica van het Leids Universitair Medisch Centrum (LUMC), Prof. dr. A. Tibben. https://www.lumc.nl/org/klinische-genetica/
• Great Ormond Street Hospital, Dr Celine Lewis. https://www.ucl.ac.uk/
  
  

• Sam Riedijk
• Iris Jansen-Bakkeren
• Diewertje Houtman
• Boy Vijlbrief