A 39-year-old woman with a family history of cancer undergoes genetic screening. She tests positive for one of the genes known to cause hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome. The patient is concerned about her diagnosis but is consoled after a detailed discussion with her physician regarding cancer screening. At a follow-up visit, she mentions that she is being considered for a promotion at the large investment firm where she works. The patient fears that she will be passed over for promotion or her medical insurance will be terminated due to her test results. The physician explains that medical information cannot be released without her permission, but she remains worried. Which of the following is the most appropriate response to the patient's concerns?

Question

A 39-year-old woman with a family history of cancer undergoes genetic screening.  She tests positive for one of the genes known to cause hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome.  The patient is concerned about her diagnosis but is consoled after a detailed discussion with her physician regarding cancer screening.  At a follow-up visit, she mentions that she is being considered for a promotion at the large investment firm where she works.  The patient fears that she will be passed over for promotion or her medical insurance will be terminated due to her test results.  The physician explains that medical information cannot be released without her permission, but she remains worried.  Which of the following is the most appropriate response to the patient's concerns?

Quizplus · Accepted Answer

Explanation: Lynch syndrome is the most common inherited cancer susceptibility syndrome and greatly increases this patient's risk of colorectal, uterine, and other cancers. Her concerns about discrimination are reasonable and common among patients who are offered genetic screening. After cost, fear of insurance discrimination is the second most common reason for refusing genetic testing. The Genetic Information Nondiscrimination Act of 2008 (GINA) prohibits discrimination by health insurers and employers on the basis of genetic information. The law defines genetic information as an individual's own genetic tests, the genetic tests of family members, or knowledge that a family member has a genetic disorder. Employers and health insurers are prohibited from requesting genetic information or requiring a person to be tested. If employers already have such genetic information on file or if the employee volunteers to release the information, it is illegal for employers or health insurers to discriminate on the basis of this information. This patient should be educated about the GINA to alleviate her concerns. (Choices B and E) Although it would be helpful to reiterate that both the patient's medical history and genetic testing results are confidential and cannot be released without her permission, educating her about protection from discrimination will more directly address her concerns. (Choice C) The GINA prohibits health insurers and employers from requesting genetic information. (Choice D) The patient's fears of genetic discrimination are legitimate. It is more appropriate to educate her about legal protections against genetic discrimination, regardless of her position of the details of her promotions. Educational objective: The Genetic Information Nondiscrimination Act of 2008 prevents employers from requiring or requesting genetic testing results of their employees. If an employer already has genetic testing information, the law prevents the employer from using the information to discriminate against the employee. References: Two cheers for GINA? (http://www.ncbi.nlm.nih.gov/pubmed/19348693) The Genetic Information Nondiscrimination Act (GINA): public policy and medical practice in the age of personalized medicine. (http://www.ncbi.nlm.nih.gov/pubmed/22314637)

A 39-Year-Old Woman with a Family History of Cancer Undergoes