White, Stephanie Turbitt, Erin Phillips, Jane L Jacobs, Chris
Published in
European journal of human genetics : EJHG
Genetic information can provide clinical benefits to families of palliative patients. However, integration of genetics into mainstream medicine has not focused on palliative populations. We explored the views and experiences of genetic health professionals in addressing genetics with palliative patients, and their families. We conducted an interpre...
Houtman, Diewertje Vijlbrief, Boy Polak, Marike Pot, Jacqueline Verhoef, Petra Cornel, Martina Riedijk, Sam
Published in
European journal of human genetics : EJHG
Public engagement for Human Germline Genome Editing (HGGE) has often been called for, for example by the WHO. However, the impact of public engagement remains largely unknown. This study reports on public engagement outcomes in the context of a public dialogue project about HGGE in the Netherlands; the DNA-dialogue. The aim was to inquire opinions ...
Quinn, Ellie Mazur, Katherine
Published in
European journal of human genetics : EJHG
Most UK-based genetic counsellors (GCs) work within clinical genetics services; yet there is a small and expanding group of GCs working within other clinical specialties, termed "mainstream" GCs. To our knowledge there have been no projects to date examining the experiences of mainstream GCs working in the UK. The aim of this workforce evaluation w...
Martins, Michelle Fernandes Murry, Logan T. Telford, Liesl Moriarty, Frank
Published in
European Journal of Human Genetics
Direct-to-consumer genetic testing (DTC-GT) is becoming increasingly widespread. The aim of this research was to systematically review the literature published on healthcare professionals’ knowledge and views about DTC-GT, as an update to a 2012 systematic review. The secondary aim was to assess the knowledge and views of healthcare professionals o...
Baptista, Julia
Published in
European Journal of Human Genetics
Abedalthagafi, Malak
Published in
European Journal of Human Genetics
Benusiglio, Patrick R.
Published in
European Journal of Human Genetics
McNeill, Alisdair
Published in
European Journal of Human Genetics
Pengelly, Reuben J.
Published in
European Journal of Human Genetics
Eyries, Mélanie Ariste, Olivier Legrand, Gaelle Basset, Noémie Guillerm, Erell Perrier, Alexandre Duros, Caroline Cohen-Haguenauer, Odile de la Grange, Pierre Coulet, Florence
...
Published in
European journal of human genetics : EJHG
Despite routine analysis of a large panel of genes, pathogenic variants are only detected in approximately 20% of families with hereditary breast and/or ovarian cancer. Mobile element insertions (MEI) are known to cause genetic diseases in humans, but remain challenging to detect. Retrospective analysis of targeted next-generation sequencing (NGS) ...
