1.5 Genetic Mutations and Inheritance
From Gametes to Zygote
Detecting and Treating Genetic Disorders
Consider this scenario: Lisa has a brother and a sister. Their mother died of cancer, and Lisa has had breast cancer. She has undergone radical surgery and chemotherapy. She is now cancer-free, but lives in fear that her cancer will return.
Her brother and sister want to know whether they also have cancer. Do you think they should be tested for the “cancer gene”? What will they do with the information this testing gives them?
As you can imagine, there are many ethical issues surrounding genetic disorders. For example, should medical insurance companies be allowed to charge higher life insurance rates for people who have the “cancer gene”?
One way to identify a genetic disorder is karyotyping (chromosome analysis). Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells. Extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause problems with a person's growth, development, and body functions. Chromosome analysis can be done on blood, tissue, or cells from amniotic fluid (the fluid that surrounds the baby in the womb).
If an individual has a gene mutation, gene therapy may be a possible treatment. This is more a future option than a current one, although some tests have been done to see if gene therapy works.