Genetic Counseling Project Presented by: _________ Name of Disorder Is Ignorance a Bliss?

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Presentation transcript:

Genetic Counseling Project Presented by: _________ Name of Disorder Is Ignorance a Bliss?

Case Study: Description of a specific* patient and his/her family. Mention: - Age of onset. -Severity -Symptoms (be brief) -Impact on family * Give the patient a name, Show sympathy.

About the patient – cont.

Treatments: What can be done to help the patient? Genetic testing: What is available today, and how reliable it is.

Mode of inheritance Recessive/Dominant? Autosomal / Sex-linked? Complexity from additional genes?

Stats: -Frequency in the population -Ethnic groups at greater risk (if exist) - Any other interesting facts.

About the normal function of the gene product (protein) – in SHORT* * This part is not mandatory for the presentation, unless it serves your point

Is Ignorance Bliss? Your conclusion regarding genetic counseling about the disorder: What could be the benefits of knowing the child will have the disorder? What could be the risks of giving this information to the patient or to the family?

Conclusion: Based on this specific disorder – what directions would you give to genetic counselors, so that their service to the family will best fit their medical needs and sensitivities?