Overview
Please read the following case study and then please respond to the following prompts.
Does a patient have an ethical obligation to share genetic information that may impact other family members? If so, what are the limitations to that obligation? Does the obligation apply to extended family members? What about in cases of adoption? Does an individual have the right to NOT know of genetic information that may have health implications? For example, if a woman discovers she carries the BRCA1 gene. Still, her adult daughters do NOT want to undergo genetic testing or know their status. Is it ethical to withhold this information? What about the case of a child, such as in the case of Ms. Kemper? What might be some unintended consequences of sharing genetic health information?
Instructions
Your discussion board post this week should be approximately 200-300 words in length and include two references in APA format.
CASE STUDY: Ms. Alice Kemper Case Study
Twenty-three-year-old Ms. Alice Kemper seeks treatment in the ED of University Hospital for abdominal pain and bloating that has gotten progressively worse over the past week. Ms. Kemper reports that she had abnormal liver function tests during an uncomplicated pregnancy one year previously and that several members of her family have had cirrhosis or hepatitis. This information, along with her physical examination and the results of initial blood tests and urinalysis, suggests severe liver disease, and she is admitted to the hospital for further diagnostic testing. Based on liver biopsy, eye examination, and genetic testing, Ms. Kemper is diagnosed with an advanced case of Wilson disease, a rare inherited disease in which excess copper accumulates in the liver, brain, eyes, and other organs. Because her liver damage is severe, Ms. Kemper is evaluated for a liver transplant. She meets criteria for transplantation and is placed on the hospital transplant program’s waiting list for liver transplant.
While Ms. Kemper is waiting for a transplant liver to become available, she is referred to by Mr. Quinn, a genetic counselor, to give her more information about condition. Mr. Quinn explains to her that Wilson disease is caused by multiple mutations in a gene that enables production of a protein that transports copper within the body. Without this protein, excess copper accumulates in and damages multiple organs. Because Wilson disease is an autosomal recessive disorder, patients with this condition have inherited gene mutations from both their parents. If both parents are carriers of the gene, each of their children have a one-in-four chance of inheriting mutations from both parents and developing the disease. Mr. Quinn explains that Ms. Kemper’s siblings are also at risk of this life-threatening genetic disease. Ms. Kemper informs him that she has two younger siblings, a 16-year-old brother and a 14-year-old sister, but that she does not want to inform them about her condition or communicate with them in any way. She explains that she was abandoned by her parents and her family years ago, and she refuses to have anything to do with them. She does, however, ask whether her 1-year-old daughter can be tested for the genetic markers for Wilson disease, so that she can be on the lookout for signs of the disease. Mr. Quinn replies that early signs of the disease do not generally appear until at least 5 years of age, and that it is very unlikely that her daughter has the condition, since transmission of the disease required that both parents are carriers of the mutated genes. Ms. Kemper responds that her child’s father has moved away from the area, and they are no longer in touch. She adds that, even though she understands that the chance that her child has the condition is small, she wants that information.