Personalized Genetics in Clinical Research

Content

Studiepunten: 7,5                                               Cursuscode: BMW32913
Coördinator: Dr. D. Dooijes                               Periode: 2
Examinator: Dr. D. Dooijes                                Timeslot: BC
E-mailadres: D.Dooijes@umcutrecht.nl           Niveau: 3
Tel.nr.: 06-31118247        
 
Content:
The human genome is extremely complex. It encodes numerous RNAs and proteins as well as regulatory elements which play a role in gene expression. Medical genetics translates this fundamental knowledge into clinically relevant genetic tests and genome diagnostic tools. Until recently, only  monogenetic disorders were tested and screened for in the clinic. In the near future, however, whole genome sequencing will be technically and financially attainable. But can someone’s genome sequence tell us more about the chances they have of suffering from complex and multifactorial  disorders ? Which statistical correlations will be found and what does such a correlation tell us about what is actually happening in this person’s body? In this course the student will explore the edge of fundamental gene research as well as the contemporary practices in a clinical setting. The aim is to ascertain what remains unknown and what information is currently missing, allowing us to form a plan for the future of genetic testing and genome screening.
 
A lot of attention will also be paid to the ethical choices that arise with these new developments. These are personal choices such as “Do I want to know it if they find something unexpected?” but also societal choices such as “Should we offer everyone genetic screening as a preventive measure, also when there are no medical indications to do so?”
During this course, the student will explore the possibilities and the desirability of genetic testing and screening from a fundamental scientific point of view, taking into account that the nature of genetic information can be complex and uncertain.
 
Required background knowledge:
The student must have knowledge of complex relations between genetic information and the (dys)functioning of the body. The basis of the background knowledge is the molecular processes surrounding gene expression and gene regulation, as studied in the BMS bachelor courses Cells and Genome. The course Genes & Genomes is recommended, but not compulsory. Students will be able to review knowledge or gain missing knowledge in the first phase of the course through independent study.
 
Learning outcomes:
Knowledge and insight
At the end of the course the student will be able to:
analyze the recent scientific, technological and clinical developments in human genetics and relate these to one another;
explain how the terms complex and uncertain are applicable to genetic information;
relate the terms complex and unsure to the (im)possibilities and (un)desirabilities of genetic testing and screening.
 
Skills
At the end of the course the student will be able to:
write a dossier about a disease-related theme in the clinical genetics field;
based on the dossier, organize a workshop for fellow students where the scientific and ethical aspects of medical genetics are brought together;
write an essay about his/her insight on personal and societal dilemmas arising from developments in the medical genetics field.
 
Attitudes
At the end of the course:
the student recognizes the importance of knowledge and values as a basis for personal and societal decision-making on genetic testing;
the student is able to  understand and discuss important issues surrounding genetic testing from the points-of-view of the different stakeholders involved  in genetic testing and is able to keep in mind which considerations play a role in their decision-making.
 
Teaching forms and contact time:
In the first six weeks the focus will be on the scientific aspects of medical genetics. The students will work together in groups of six on writing a dossier about, for example, the genetics of cancer, heart failure or neurological disorders. There will also be interactive lectures, practical assignments and guided tours in the genetics laboratories. In the last four weeks the focus will be on the societal and personal implications of developments in the medical genetics field. There will be workshops and discussions with patients and guest lecturers. All the participants will also organize a workshop for three fellow students and a teacher. Finally, every participant will write an essay on the societal and personal implications of the developments in the field of medical genetics. When foreign students apply for this course, the course will be taught in English.
 
Method(s) of testing:
The grade will be given based on the dossier, the workshop, the essay and participation. All the individual sections need to be judged with a ‘pass’. The course does not have a written exam.
 
Required material:
During the course, recent (review) literature will be used. There is no course textbook. The students can use the readers from  the courses Genome and Genes & Genomes as background information.