Question

Karen’s brother (Charlie) has a genetic cardiac disorder that puts him at high risk for sudden cardiac death. He has had one episode and is now being treated with medications and an implanted cardioverter defibrillator. This disorder is transmitted in families in an autosomal-dominant pattern, and genetic testing is available. Karen and Charlie’s dad died at age 39 in a single-car crash. The family always assumed that it was suicide because he had been depressed, but the family doctor suggested that he might have had a cardiac arrest, just as Charlie did. Karen drives a school bus and has not talked to her brother in 10 years. The last time they saw each other was at their father’s funeral. Charlie is asked to inform his sister of her genetic risk, but he refuses.

1. What is Karen’s risk of being affected with this disorder?

2. What ethical principles are involved in this case?

         

   3. What would you do if you were Charlie’s health-care provider?

Answer 1

1.In autosomal dominant pattern (if any one parent has an abnormal gene which is dominant in nature) can pass it to their children. There are 50% chance of transfer to a child I'm each pregnancy. Hence Karen is at risk of getting affected by 50% with this disorder

2.The ethical principles involved here are

• The principle of beneficience has to be followed here as the brother is a carrier ,it means sister Karen is also equally at risk of getting the disorder. Hence as a matter of doing things in the best interest of patient it has to be informed
• Follow non maleficience by not harming the patient by keeping this confidential
• Being a healthcare professional it is an accountability to make necessary arrangements to inform this to Karen

3.It is always a duty of a health care provider that they are beneficience to others and prevent consequences of a hereditary disease .Charlie should be provided a counselling and additional psychological support in are of a trauma experienced with her sister,rectify it and convey the message to his sister as a concern and caring nature.