Today, we stand at the threshold of a new era in healthcare. Analysis of a complete patient’s genome will play a prominent role in the consulting rooms of almost every medical specialist within the foreseeable future. Novel sequencing technologies are expected to improve and accelerate diagnosis, improve healthcare and facilitate more personalized health management. It also gives opportunities for new targeted therapies and creates more detailed insight into the mechanisms of disease at the molecular, cellular and organismal level. These new opportunities also bring new ethical implications for patients and their families.
In this half minor, you will:
- Learn to take anamneses and to establish a genetic diagnosis during patient demonstrations;
- Learn to critically evaluate literature about genomics and to use your findings to answer questions from clinical practice;
- Learn how to describe the clinical implications of a genetic diagnosis to counselees for several clinical disciplines;
- Obtain a basic understanding of a genetic test and how to translate the results into the clinic;
- Describe and explain the impact of the Next Generation Sequencing (NGS) technologies in health care, as well as the ethical consequences;
- Discuss how different clinical treatment strategies for different clinical disciplines will be affected by implementation of NGS;
- Learn how genetic findings highlighted the mechanisms of important diseases and how this lead to novel opportunities for treatment;
- Learn to understand and explain how the risk of patients for certain diseases and/or their response to certain (pharmacological) treatments can be affected by their genetic background;
- Describe the medical relevance of genomic variants;
- Communicate acquired knowledge on genetics in the clinic in a written report and oral presentation in a concise and structured way.
In the first two weeks of this course, we will discuss the present-day clinical routine for a number of medical disciplines, including neurology, cardiology, oncology, nephrology, and gastroenterology. What is the anamnesis of an ‘average patient’ seen in these clinics, and how often is a genetic diagnosis warranted? How is this differential diagnosis established and what diagnostic information is essential for arriving at the right diagnosis? This will be exemplified by patient demonstrations. In addition, this part of the course will refresh basic genetic principles, such as inheritance patterns, chromosomal disorders, and diagnostic approaches.
In week 3 and 4 the principle of "Next generation sequencing” ( NGS ) and its applications will be discussed as well as ethical questions. In recent years, the application of NGS really has taken off in medical research and diagnostics, and has identified many causative genes for hereditary and congenital disorders in recent years. Using examples, it is illustrated why NGS is suitable for this purpose and some of the problems that are encountered. The impact on health in a broader sense is also prominent. It is very likely that genome-wide analysis will play a prominent role in many doctor's offices and throughout all levels of health care in the near future.
In week 5 and 6 the impact of genetic understanding of complex diseases on the clinical counselling and clinical care will be discussed. Complex diseases, such as type 2 diabetes, migraine and Parkinson’s disease, are also called polygenic diseases since they are usually not caused by mutations in a single gene but a result of a set of genetic predispositions and their interplay with environmental factors. We will discuss strategies how to identify genetic contributors to disease as well as the role of environmental factors such as microbiota and more classical risk factors such as obesity, hypertension and smoking. Much attention will be paid to both the clinical and molecular aspects of these diseases and their prospects for personalized medicine.
In week 7 and 8 the topics of pharmacogenomics (week 7), health prevention screening and genetic therapies (week 8), which together form the core of personalized medicine, are covered. Pharmacogenomics studies how genetic variation may also result in an altered individual drug response, which can have serious implications for treating patients. Guidelines to aid physicians and pharmacists with the interpretation of pharmacogenetic test results will be discussed and several hands-on topics, including preparing CYP2D6 student-specific drug passports, generating a Wikipedia page will be performed. Molecular knowledge has the potential to lead to targeted therapies to treat disease, so-called genetic therapies. The main technologies of genetic therapies, the perspectives of the researcher, the patient, and industry are discussed in this part of the course, as well as the ethical considerations that link to dealing with sick patients in drug testing.
In the two final weeks (weeks 9 and 10) of the course students will apply their knowledge from the previous weeks and will write a scientific paper/research proposal under the expert guidance of a senior researcher. Three experts in the field of genetics will give a mini-symposium highlighting the important role genetics will play in the clinic in the near future. Students will give an oral presentation on their scientific research proposal in the closing student symposium.
Throughout the program, we will use a variety of teaching methods, including patient demonstrations, critical literature evaluation, (interactive) lectures, debates, visits to clinical genetics departments, self-study assignments, working groups, a clinical visit, hands-on DNA work and presentations.
Your grade will be based on a knowledge exam, knowledge based computer assignment, anamnesis written exam, oral presentations on research articles, clinical cases and a written research (grant) proposal. Participation in discussions, and reports on visits to the diagnostic & research laboratories are pass/fail assignments.
Related LUMC research theme
This is a generic half minor, i.e. related to all the LUMC medical research profiles.