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Web 2.0 and clinical genetics: in practice

Ramūnas Janavičius at sent me some exceptional links to resources of clinical genetics. Why is it important? Once I wrote that:

Look, we can’t expect physicians (from any kind of medical specialties) to know everything about all the cc. 4000 genetic conditions. But we can help them how to find relevant information and quickly understandable material on genetic conditions.

Last week, I got a chance to see how our geneticists work at the department of pediatrics. I admire their work, but in special cases, they had to search for syndromes in books! I mean they had to go through it page by page. I always dream about a software (a Diagnosaurus-like gadget) with which we could make it easier for physicians to diagnose a genetic condition. You just enter the symptoms and you get a useful list for differential diagnosis. OMIM (Online Mendelian Inheritance in Man) doesn’t work like that.

So using web 2.0’s features, we can get closer and closer to this dream. The Clinical Genetics Blog uses to tag many resources to make it easier to search for genetic conditions:


There is also an image collection at

And the link of the week award goes to the Handbook of Genetic Counseling:

This book is designed as an introduction to the discipline and practice of genetic counseling. The text provides an introduction to genetic counseling as a clinical practice and includes sample counseling outlines and letters for students of genetic counseling. Additional outline and letter examples are highly encouraged.

It is just awesome! If we could merge this collection with the tags and the images into a Diagnosaurus-like software, we could create the best database of clinical genetics. What is your opinion?


8 Comments Post a comment
  1. Well, there are great clinical genetics databases: London Dysmorphology Database (or more preciselly The Winter-Baraitser Dysmorphology Database (WBDD) –
    and Australian POSSUM ( However, they cost a lot. A free-open source collaborative database would be great – at I’ve just started tagging approach, but think its too comlplex.

    July 21, 2007
  2. Trip #

    Very important site in the works:

    July 23, 2007
  3. Wow, thank you for the link! I’m going to write about it.

    July 23, 2007
  4. I learn lot of think from this article. If you share more about clinical genetics then it’s will be really helpful for people who are connected with medical profession.

    July 21, 2015

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