Describe the basis of the Human Genome Project and its impact on the role of genetics in health care.

Mary and Marcie. identical twins, go to the same internist who is also a faculty member at a major medical center. At their last visit, they each received a brochure describing a genetics research program recently launched by the hospital and its affiliated university. Researchers were asking for volunteers to fill out a questionnaire and a consent form, donate a blood sample, and have their medical records encoded and transferred to a database. The goal was to enroll 100,000 participants, and the brochure noted that over 10,000 people had already agreed to participate. The blood sample would be used to extract DNA. which would be encoded with the same number as the medical records. This DNA would be used to search for genes associated with conditions such as arthritis, diabetes, and Alzheimer disease. The idea is that researchers interested in studying arthritis would use the medical records to identify which participants have the condition and then use DNA from those individuals to find genetic similarities that are not present in participants who do not have arthritis. The genetic similarities help identify regions of the genome that contain genes associated with arthritis. These regions can then be studied in detail to identify and isolate genes that may be associated with arthritis and other inflammatory disorders. In exchange for enrolling, participants would be informed about any genetic conditions or predispositions to genetic disease they carry and would receive free access to testing. After discussing the brochure. Mary decided to enroll, but Marcie decided she did not want to do so. She said she did not want to know what diseases she may develop or which disease genes she may carry. At their next annual visit. Marys internist told her that because her questionnaire indicated that some relatives had Alzheimer disease, her DNA was used in a study to identify risk genes. He said she had been identified as a carrier of a gene that greatly increased the likelihood that she would develop Alzheimer disease. The physician told her that age was the greatest risk factor, and while it was not 100% certain she would become a victim of Alzheimer disease, the gene she carries is a factor in 2025% of all cases. Mary asked if there was anything she could do about these findings. The internist told her that exercise, controlling blood pressure and cholesterol levels, as well as participating in mentally challenging activities such as reading or playing a musical instrument may all help reduce her chances of developing this disease. Mary then asked if Marcie was going to be told about Marys genetic risk, and the internist said that he would not tell her. For the next few days. Mary was conflicted about the situation. Marcie was an Identical twin, and If Mary carried a gene predisposing her to Alzheimer disease. Marcie must carry the same gene. Marcie did not exercise with Mary, had high blood pressure, and little interest in reading or social activities. Mary did not know whether she should tell Marcie. If you were advising Mary, what would you say? Should she tell Marcie about the risk? Should she not tell her, but instead try to get Marcie to exercise and be more social? Should Mary ask their internist to talk with Marcie about this?

A set of cells that host various DNA fragments collectively representing an organisms entire set of genetic information is called a _______ . a. genome c. genomic library b. clone d. GMO

You are a genetic counselor, and your patient has asked to be tested to determine if she carries a gene that predisposes her to early-onset cancer. If your patient has this gene, there is a 50/50 chance that all of her siblings inherited the gene as well; there is also a 50/50 chance that it will be passed on to their offspring. Your patient is concerned about confidentiality and does not want anyone in her family to know she is being tested, including her identical twin sister. Your patient is tested and found to carry a mutant allele that gives her an 85% lifetime risk of developing breast cancer and a 60% lifetime risk of developing ovarian cancer. At the result-disclosure session, she once again reiterates that she does not want anyone in her family to know her test results. a. Knowing that a familial mutation is occurring in this family, what would be your next course of action in this case? b. Is it your duty to contact members of this family despite the request of your patient? Where do your obligations lie: with your patient or with the patients family? Would it be inappropriate to try to persuade the patient to share her results with her family members?

What is the most challenging issue facing genome sequencing? a. the inability to develop fast and accurate sequencing techniques b. the ethics of using information from genomes at the individual level c. the availability and stability of DNA d. all of the above

Identify a possible advantage and a possible disadvantage of a genetic test that would identify genes in individuals that increase their probability of having Alzheimer’s disease later in life.

Whole-genome sequencing can be used for advances in: the medical field agriculture biofuels all of the above

Although it is well known that X-rays cause mutations, they are routinely used to diagnose medical problems, including potential tumors, broken bones, and dental cavities. Why is this done? What precautions need to be taken?

Which of the following best describes the process of DNA sequencing? a. DNA is separated on a gel, and the different bands are labeled with fluorescent nucleotides and scanned with a laser. b. A laser is used to fluorescently label the nucleotides present within the DNA, the DNA is run on a gel, and then the DNA is broken into fragments. c. Nucleotides are scanned with a laser and incorporated into the DNA that has been separated on a gel, and then the DNA is amplified with PCR. d. Fragments of DNA are produced in a reaction that labels them with any of four different fluorescent dyes, and the fragments then are run on a gel and scanned with a laser. e. DNA is broken down into its constituent nucleotides, and the nucleotides are then run on a gel and purified with a laser.

What kind of diseases are studied using genome-wide association studies? a. viral diseases b. single-gene inherited diseases c. diseases caused by multiple genes d. diseases caused by environmental factors