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

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?