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Medical Genetics Education

Posted by Alb On 9/28/2009 07:45:00 PM
It is always interesting to experience something from two sides.

In my one-year foray in grad school working towards my Master's in Public Health (Hospital & Molecular Epidemiology program), I've had the pleasure of taking courses focusing on the emergent importance of genetics in medicine and public health. Since the sequencing of the human genome there has been the scramble to identify the function and relationship of every gene in the human genome in hopes of pinpointing risks of various diseases, of developing gene therapy, and ultimately of creating "personalized medicine" where each person's treatment is tailored to his/her own genome. The field of genetics is advancing almost exponentially from year to year. Physicians and public health officials are often left in the wake as they try to keep up with the implications of new research.

In my public health courses that discussed genetics, we covered the genetic components of diseases (e.g. in cancers), the role of genetics in public health policy and ethics, how to design genetic epidemiological studies (e.g. genome-wide association studies), how to communicate genetics to the general public, and how to teach genetics to (mainly primary care) physicians and med students. For this post I will focus on the last point: teaching genetics to med students.

In some of my public health genetics courses we had discussed briefly on what to teach med students so that they are aware of the importance of genetics and so they may use that knowledge as a foundation for understanding more advanced concepts in genetics. Because genetics is an ever-changing field, what do we want med students - at a minimum - to know? How can it be taught in a way that's engaging and useful?

First, what's (more often than not) the current situation? Because med school curricula have always been packed with information, there is not a lot of time to create a new course without detracting from already existing courses. In many places, a month or less is dedicated to medical genetics. Most of the genetics one eventually encounters in med school is interspersed throughout other courses such as biochem and pathology. Entering M1 med students have very diverse backgrounds and many people have never taken any genetics beyond what little was presented in an intro biology course in undergrad.

Second, what're some of the challenges of a medical genetics course? Genetics is a complex field that interweaves between multiple disciplines, and often requires at least some basic knowledge in other disciplines such as biochem (for molecular genetics) and statistics (for population genetics). Medical genetics must also be taught in a way that's directly applicable in medicine, and much of this also requires knowledge outside of "strictly" genetics such as pathology for disease etiology and progression. Thus such a course must be basic enough that it doesn't require too much outside knowledge, but advanced enough to be actually useful.

Third, what's the purpose of a medical genetics course? This course should serve to introduce genetics to med students and give them an appreciation of its ever-increasing involvement in diseases and research. It should serve as a primer to be aware of the role of genetics in other disciplines. And finally, it should teach med students some basic utilities of genetics (e.g. pedigrees and when to suspect genetic conditions).

Let's summarize the above: 1. there is limited time to teach medical genetics, 2. genetics draws from many disciplines and must be taught in a careful and balanced way, 3. medical genetics should serve to prime and sensitize med students to the role of genetics in medicine and to make them aware of its importance. From my experience (and the experiences of some of my peers at other med schools), medical genetics is poorly taught and often used as a sort of hodge-podge "class fodder" to insert aspects of biochem and human development (embryology) to serve as introductions to those courses instead. As a result many, if not most, med students end up hating and cursing medical genetics because they can't see its utility.

So now I'll touch on the content that needs to be taught in a medical genetics course. Some of this is from discussions held in my public health courses and some of this is due to reflections from my own recent experience with the course. Some content should include:

- brief overview of mitosis and meiosis
- brief overview of replication, transcription, and translation
- brief overview of Mendelian genetics
- brief intro to non-Mendelian genetics (co-dominance, incomplete dominance, X-linked, variable expressivity, penetrance, etc)
- discussion of multifactorial genetics (e.g. additive traits, quantitative genetics)
- highlight genetic diseases to above cement concepts (e.g. sickle-cell anemia, cystic fibrosis, Huntington's corea)
- how to take a pedigree and pedigree analysis
- intro into genetic counseling and the role of genetic counselors
- intro to cancer genetics, with some basic pathology of cancer
- highlight genetic cancers to reinforce concepts (e.g. BRCA1/2 for breast cancer, FAP and HNPCC for colorectal cancer)
- brief discussion of epigenetics
- brief discussion of newborn blood screening
- brief discussion of genetics in public health (e.g. GWAS studies, linkage analysis)
- discussion of ELSI (ethical, legal, & social implication) issues in genetics and genetics research

There are likely more aspects of genetics that can be included in a medical genetics course, but the above is what I and many of my peers would have liked to see. Some topics (e.g. mitosis, meiosis, replication, transcription, and translation) were covered in more detail than necessary whereas other topics (e.g. epigenetics and cancer genetics) were briefly mentioned and some weren't even discussed (e.g. genetic counseling, multifactorial genetics, ELSI issues). The suggested content above looks daunting, but it is doable - it is possible to include most of it in a month's worth of medical genetics.

With the current state of medical genetics courses (in general) in the standard medical curricula consisting of basic science courses in the M1 & M2 years and clinical rotations in the M3 & M4 years, there is a real danger of medical education being unable to keep pace with the great strides in genetics - a fear that today's physicians will become overwhelmed with the promises and prospects of genetics, that tomorrow's physicians won't be able to properly synthesize and recognize the role of genetics in their practice.

Then again, my viewpoint might be highly biased due to my interests in genetics.

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