genetic counseling project presented by: _________ name of disorder is ignorance a bliss?
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?