Genetics: From Genes to Genomes
6th Edition
ISBN: 9781259700903
Author: Leland Hartwell Dr., Michael L. Goldberg Professor Dr., Janice Fischer, Leroy Hood Dr.
Publisher: McGraw-Hill Education
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Chapter 22, Problem 30P
In 2008, Time magazine named as its invention of the year the development of personal genomics services by a company named 23andMe. Customers sent saliva samples to the company, which then genotyped approximately one million SNPs located across the genome, and communicated the data online to the customer along with what was claimed to be a “for education use only” assessment of potential risk for a variety of traits.
However, on November 22, 2013, the United States Food and Drug Administration (FDA) ordered 23andMe to stop marketing its personal genomics services because the accuracy of its SNP genotyping and risk predictions had not been validated as sufficiently accurate for medical use. The FDA was concerned that people might make serious medical decisions based on information from a test that was not clinically approved. Some elements of this ban were relieved in 2015 and 2017, but DNA testing services are still restrained from offering their customers all the pre-ban predictions. Defining these limits remains a contentious and unresolved issue.
| a. | Can the information you would obtain from this personal genomics service tell you whether or not you have a |
| b. | Can the information you would obtain from this personal genomics service inform you about your likelihood of having a disease that is a complex trait? Explain. |
| c. | In December 2013, a reporter for The New York Times reported that she sent samples of her own DNA to three different companies (one of which was 23andMe), but the three companies provided very different estimates of her risk for a variety of complex traits. What were the likely causes of the differences in these estimates? |
| d. | Do you think new scientific developments will help resolve these issues in the near future? |
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Chapter 22 Solutions
Genetics: From Genes to Genomes
Ch. 22 - Choose the best matching phrase in the right...Ch. 22 - Suppose you grew genetically identical dandelion...Ch. 22 - How can each of the following be used in...Ch. 22 - Two different groups of scientists studying a rare...Ch. 22 - Which of the following statements would be true of...Ch. 22 - Studies have indicated that for pairs of twins...Ch. 22 - Prob. 7PCh. 22 - Prob. 8PCh. 22 - Table 22.2 lists concordance values for MZ and DZ...Ch. 22 - Prob. 10P
Ch. 22 - Prob. 11PCh. 22 - Two alleles at one locus produce three distinct...Ch. 22 - In a certain plant, leaf size is determined by...Ch. 22 - Compare and contrast the use of SNP genotyping: i...Ch. 22 - Explain the similarities and differences between...Ch. 22 - In Fig. 22.14c, the fw2.2 causal gene was...Ch. 22 - Among the most prevalent pathologies that afflict...Ch. 22 - Human geneticists have found the Finnish...Ch. 22 - Canavan disease, caused by homozygosity for a...Ch. 22 - In GWAS analysis, because of the existence of LD...Ch. 22 - In Fig. 22.15: a. Why do some chromosomes in the...Ch. 22 - Consider the triangle diagram shown in Fig. 22.17....Ch. 22 - Prob. 23PCh. 22 - You conduct a Case/Control study comparing the...Ch. 22 - Prob. 25PCh. 22 - ALS amyotrophic lateral sclerosis is a rare, fatal...Ch. 22 - Through GWAS explorations, scientists have...Ch. 22 - In domesticated dogs, size has a high...Ch. 22 - Suppose a GWAS investigation found a particular LD...Ch. 22 - In 2008, Time magazine named as its invention of...
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- 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?arrow_forwardPedigree analysis is a fundamental tool for investigating whether or not a trait is following a Mendelian pattern of inheritance. It can also be used to help identify individuals within a family who may be at risk for the trait. Adam and Sarah, a young couple of Eastern European Jewish ancestry, went to a genetic counselor because they were planning a family and wanted to know what their chances were for having a child with a genetic condition. The genetic counselor took a detailed family history from both of them and discovered several traits in their respective families. Sarahs maternal family history is suggestive of an autosomal dominant pattern of cancer predisposition to breast and ovarian cancer because of the young ages at which her mother and grandmother were diagnosed with their cancers. If a mutant allele that predisposed to breast and ovarian cancer was inherited in Sarahs family, she, her sister, and any of her own future children could be at risk for inheriting this mutation. The counselor told her that genetic testing is available that may help determine if this mutant allele is present in her family members. Adams paternal family history has a very strong pattern of early onset heart disease. An autosomal dominant condition known as familial hypercholesterolemia may be responsible for the large number of deaths from heart disease. As with hereditary breast and ovarian cancer, genetic testing is available to see if Adam carries the mutant allele. Testing will give the couple more information about the chances that their children could inherit this mutation. Adam had a first cousin who died from Tay-Sachs disease (TSD), a fatal autosomal recessive condition most commonly found in people of Eastern European Jewish descent. Because TSD is a recessively inherited disorder, both of his cousins parents must have been heterozygous carriers of the mutant allele. If that is the case, Adams father could be a carrier as well. If Adams father carries the mutant TSD allele, it is possible that Adam inherited this mutation. Because Sarah is also of Eastern European Jewish ancestry, she could also be a carrier of the gene, even though no one in her family has been affected with TSD. If Adam and Sarah are both carriers, each of their children would have a 25% chance of being afflicted with TSD. A simple blood test performed on both Sarah and Adam could determine whether they are carriers of this mutation. Would you decide to have a child if the test results said that you carry the mutation for breast and ovarian cancer? The heart disease mutation? The TSD mutation? The heart disease and the mutant alleles?arrow_forwardPedigree analysis is a fundamental tool for investigating whether or not a trait is following a Mendelian pattern of inheritance. It can also be used to help identify individuals within a family who may be at risk for the trait. Adam and Sarah, a young couple of Eastern European Jewish ancestry, went to a genetic counselor because they were planning a family and wanted to know what their chances were for having a child with a genetic condition. The genetic counselor took a detailed family history from both of them and discovered several traits in their respective families. Sarahs maternal family history is suggestive of an autosomal dominant pattern of cancer predisposition to breast and ovarian cancer because of the young ages at which her mother and grandmother were diagnosed with their cancers. If a mutant allele that predisposed to breast and ovarian cancer was inherited in Sarahs family, she, her sister, and any of her own future children could be at risk for inheriting this mutation. The counselor told her that genetic testing is available that may help determine if this mutant allele is present in her family members. Adams paternal family history has a very strong pattern of early onset heart disease. An autosomal dominant condition known as familial hypercholesterolemia may be responsible for the large number of deaths from heart disease. As with hereditary breast and ovarian cancer, genetic testing is available to see if Adam carries the mutant allele. Testing will give the couple more information about the chances that their children could inherit this mutation. Adam had a first cousin who died from Tay-Sachs disease (TSD), a fatal autosomal recessive condition most commonly found in people of Eastern European Jewish descent. Because TSD is a recessively inherited disorder, both of his cousins parents must have been heterozygous carriers of the mutant allele. If that is the case, Adams father could be a carrier as well. If Adams father carries the mutant TSD allele, it is possible that Adam inherited this mutation. Because Sarah is also of Eastern European Jewish ancestry, she could also be a carrier of the gene, even though no one in her family has been affected with TSD. If Adam and Sarah are both carriers, each of their children would have a 25% chance of being afflicted with TSD. A simple blood test performed on both Sarah and Adam could determine whether they are carriers of this mutation. Would you want to know the results of the cancer, heart disease, and TSD tests if you were Sarah and Adam? Is it their responsibility as potential parents to gather this type of information before they decide to have a child?arrow_forward
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- Pedigree Analysis Is a Basic Method in Human Genetics Using the pedigree provided, answer the following questions. a. Is the proband male or female? b. Is the grandfather of the proband affected? c. How many siblings does the proband have, and where is he or she in the birth order?arrow_forwardThe world can be a scary place. There are many disease causing organisms and genetic disorders that can make life difficult. As you read the chapter, be thinking about your family history of genetic disorders, how these disorders are passed on through generations, and what types of testing can be done to look for these alleles. In this exercise you will reflect on the pros and cons of genetic testing and how it may affect you. Please remember to add a question to engage your classmates in the discussion. What might the consequences be of having this information (e.g. health insurance coverage, privacy, etc.)?arrow_forwardWhat genetic model of an organism is the most ideal? And why is it an ideal model in genetics?arrow_forward
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