Question 1

One of the first applications of pharmacogenetics in prescribing drugs is for
A)Accutane,an acne drug.
B)an early pregnancy test kit.
C)warfarin,a blood thinner.
D)a narcotic to treat chronic pain.

Accepted Answer

Warfarin is a blood thinner that is known to have different effects in different individuals due to genetic variations. Pharmacogenetic testing can help identify patients who may be more sensitive to the drug or require a different dose, reducing the risk of adverse reactions or inefficacy of the treatment. The other options, while they may have some genetic considerations, are not typically associated with pharmacogenetic testing for prescribing.

Question 2

One of the most important types of information that a patient can bring to an initial appointment with a genetic counselor is
A)her immunization records from childhood.
B)results of a comprehensive lipid profile.
C)the family health history,extending to second degree relatives.
D)a list of the occupations of every family member.

Accepted Answer

The family health history, extending to second degree relatives, is crucial information for a genetic counselor. It helps to identify potential inherited conditions or risks and guide proper testing and screening. Immunization records and lipid profiles are important health information but not as relevant for genetic counseling. The occupations of family members may provide some insight into potential environmental exposures but are not as critical as the family health history.

Question 3

"Preconception comprehensive carrier screening" is a test that detects heterozygotes for nearly 500 single-gene diseases affecting children.

Accepted Answer

Preconception comprehensive carrier screening is a test that detects heterozygotes for nearly 500 single-gene diseases affecting children.

Question 4

Newborn screening using mass spectrometry identifies certain single-gene disorders by detecting
A)the causative mutation.
B)the wild type gene sequence.
C)an unusual metabolite or metabolic imbalance.
D)abnormal proteins in urine.

Accepted Answer

Newborn screening using mass spectrometry identifies certain single-gene disorders by detecting unusual metabolites or metabolic imbalances. This is because certain genetic disorders can affect the body's ability to break down or produce certain molecules, leading to an accumulation or deficiency of certain metabolites that can be detected through mass spectrometry.

Question 5

The Genetic Testing Registry of the U.S.National Institutes of Health acts as a clearinghouse to provide information on genetic tests.

Accepted Answer

The Genetic Testing Registry (GTR) is indeed a clearinghouse for information on genetic tests, maintained by the National Institutes of Health (NIH). It provides information about the purpose, validity, and availability of genetic tests, as well as information about laboratories offering such tests. Its aim is to facilitate access to accurate and reliable genetic testing information for healthcare providers, patients, and researchers.

Question 6

Newborn screening reveals that newborn Jessica has inherited phenylketonuria (PKU).Her parents are distraught at the diagnosis,but a nutritionist explains that Jessica can be treated,right away.The treatment for PKU is
A)nonheritable gene therapy.
B)heritable gene therapy.
C)exchange of her blood supply.
D)dietary.

Accepted Answer

The best choice for treating PKU is dietary management, which involves avoiding foods that contain phenylalanine and supplementing the diet with special formulas and low-phenylalanine foods. This can prevent the buildup of toxic levels of phenylalanine in the body and reduce the risk of developmental delays and other complications associated with PKU. Nonheritable gene therapy is not a current treatment option for PKU, and heritable gene therapy is still in experimental stages. Exchange transfusion is not necessary for treating PKU.

Question 7

Which of the following might a genetic counselor do as part of her job?
A)Order prenatal tests,interpret the results,and then deliver the baby
B)Order a lipid profile,interpret the results,then prescribe a statin drug if cholesterol levels are unhealthy
C)Require a patient to take a test for hereditary colon cancer
D)Explain the inheritance of a specific disorder in a family,evaluate risks for relatives,and advise on genetic testing

Accepted Answer

Genetic counselors specialize in interpreting and explaining genetic information to patients and families. This includes explaining the inheritance of specific disorders, evaluating risks for family members, and advising on genetic testing. They do not typically order medical tests or prescribe medications.

Question 8

Genetic counseling to help patients with Huntington disease in their families decide if they wish to be tested
A)explains that testing for adult-onset dominant disorders is not available.
B)takes one or two visits.
C)takes several months.
D)advises all such individuals not to have children.

Accepted Answer

Genetic counseling for Huntington disease can be a complex and emotional process. It typically involves multiple visits and can take several months to complete. The counselor will discuss the testing process, the potential outcomes, and what a positive result would mean for the individual and their family. It is not advisable for counselors to advise patients to not have children as it is a personal decision of the individual. Additionally, testing is available for adult-onset dominant disorders like Huntington disease.

Question 9

Maxwell needs to take an anti-depressant drug.He enrolls in a clinical trial to detect genetic variants and gene expression profiles associated with response to various drugs.This approach to selecting a therapeutic drug is called
A)pharmacogenetics.
B)pharmacogenomics.
C)pharmacology.
D)recombinant DNA technology.

Accepted Answer

Pharmacogenomics involves the study of how a person's genes influence their response to drugs. By analyzing an individual's genetic variants and gene expression profiles, clinicians can select the most effective drug for that person's specific genetic makeup.

Question 10

Enzyme replacement therapy treats
A)the genotype.
B)the genome.
C)the phenotype.
D)the genetic code.

Accepted Answer

Enzyme replacement therapy is used to treat the phenotype, which refers to the observable characteristics or traits of an individual. Specifically, this therapy involves providing patients with a functional form of an enzyme that their body is unable to produce or not producing enough of, in order to alleviate the symptoms associated with a specific enzyme deficiency disorder. This therapy does not directly alter an individual's genotype (genetic makeup) or genome (the complete set of genes in an organism). It does not change the genetic code, but instead compensates for the missing or inadequate enzyme function.

Question 11

Macy has BRCA1 breast cancer.Her sister Philene is healthy,but wants to know if she has inherited the BRCA1 mutation that could make her develop cancer.She is a candidate for a
A)newborn screen.
B)carrier test.
C)genome screen.
D)genome-wide association study.

Accepted Answer

The answer of Macy has BRCA1 breast cancer.Her sister Philene...

Question 12

Nondirective genetic counseling
A)does not accept health insurance.
B)does not deal with disorders carried on the sex chromosomes.
C)considers diseases caused by genes that are located throughout the genome.
D)offers options but not opinions.

Accepted Answer

Nondirective genetic counseling offers options for courses of action but does not provide opinions or recommendations. It is a patient-centered approach that allows individuals to make informed decisions based on their own values and preferences. It can cover all types of genetic disorders, not just those caused by genes carried on the sex chromosomes. Health insurance coverage may vary depending on the provider and location, but it is not a defining characteristic of nondirective genetic counseling.

Question 13

The field of genetic counseling began when the term was coined
A)in 1986,when the human genome project was first suggested.
B)in 1947,to help physicians explain inherited diseases to their patients.
C)in 1953,when Watson and Crick discovered the structure of DNA.
D)in 1865,when Gregor Mendel published his work on inheritance patterns in pea plants.

Accepted Answer

The field of genetic counseling began in 1947 when physicians recognized the need for additional support in explaining inherited diseases to their patients. This led to the establishment of the first genetic counseling clinic in 1949. While the discovery of DNA and the human genome project have certainly impacted the field, they did not mark the beginning of genetic counseling as a profession. Gregor Mendel's work on inheritance patterns, while significant to the study of genetics, also did not initiate the field of genetic counseling.

Question 14

A genetic counselor might discuss assisted reproductive technologies with a couple who wish to
A)adopt a child.
B)avoid passing on a disease-causing allele to a child.
C)avoid cancer in their children.
D)have a child who will excel at a particular sport or have a particular talent.

Accepted Answer

Assisted reproductive technologies such as pre-implantation genetic diagnosis (PGD) can be used to select embryos that do not carry a disease-causing allele that one or both parents may be a carrier of. This can help to prevent the genetic disease from being passed on to their children.

Question 15

Unlike cholesterol checks and chest x-rays,the results of genetic tests may have repercussions to family members who share genotypes that can affect health

Accepted Answer

Genetic tests can reveal information about a person's risk for certain health conditions. This information can also impact family members who share similar genotypes and may also be at increased risk for developing the same conditions. It is important to consider the potential implications of genetic testing before undergoing the test.

Question 16

Diagnosis of hereditary hemochromatosis cannot be based on the results of a genetic test alone because
A)the disease is incompletely penetrant.
B)genetic tests are untrustworthy.
C)the disease is genetically heterogeneiC.
D)the disease is not inheriteD.

Accepted Answer

Hereditary hemochromatosis is incompletely penetrant, meaning not everyone with the genetic mutation will develop the disease, so additional clinical evaluation is necessary.

Question 17

A test offered on the Web by a direct-to-consumer genetic testing company genotypes a gene for ability to taste bitter substances.This test is not regulated by the Clinical Laboratory Improvement Amendments (CLIA)because
A)the test is not expensive.
B)the test provides information,not a diagnosis.
C)the test is offered in a state of the U.S.not covered by these regulations.
D)the Genetic Information Nondiscrimination Act outlawed CLIA.
E)it is not accurate.

Accepted Answer

CLIA regulations only apply to tests that provide a diagnosis or healthcare information. As this test only provides information on taste sensitivity, it falls outside the scope of CLIA regulation.

Question 18

Sheree is referred to a genetic counselor because a cystic fibrosis (CF)test done as a routine part of her prenatal care indicated that she is a carrier of the most common mutant allele.Sheree is stunned,because no one in her family has the disease.She is 26 years old.The genetic counselor would most likely
A)explain autosomal recessive inheritance and suggest that Sheree's husband be tested for CF.
B)explain autosomal dominant inheritance and suggest that Sheree's husband be tested for CF.
C)explain autosomal recessive inheritance and suggest that Sheree's parents be tested for CF.
D)advise Sheree to have amniocentesis to check the fetus for the CF genotype.

Accepted Answer

The fact that Sheree is a carrier for CF indicates that she inherited one copy of the mutant allele from one of her parents. This means that she has a 50% chance of passing it on to her offspring. CF is an autosomal recessive disorder, meaning that it requires two copies of the mutant allele to cause the disease. Sheree's husband should be tested for CF to determine if he is also a carrier. If he is, then there is a 25% chance that their child will inherit two copies of the mutant allele and have CF. The genetic counselor would likely explain all of this and provide further information and recommendations.

Question 19

"Patients-in-waiting" are false positives whose newborn screening reveals disease markers,but never develop the predicted symptoms.

Accepted Answer

Patients-in-waiting are individuals who test positive for disease markers during newborn screening but are never clinically diagnosed with the predicted disease, indicating a false-positive result.

Question 20

Rita has been diagnosed with HER2 breast cancer,and is prescribed Herceptin.The approach of basing a drug prescription on the results of a single-gene test is called
A)pharmacogenetics.
B)pharmacophenetics.
C)pharmacogenomics.
D)enzyme replacement therapy.

Accepted Answer

Pharmacogenetics is the study of how a person's genetic makeup affects their response to drugs, often involving single-gene tests to guide drug prescriptions.

Quiz 20: Genetic Testing and Treatment

One of the first applications of pharmacogenetics in prescribing drugs is for

One of the most important types of information that a patient can bring to an initial appointment with a genetic counselor is

"Preconception comprehensive carrier screening" is a test that detects heterozygotes for nearly 500 single-gene diseases affecting children.

Newborn screening using mass spectrometry identifies certain single-gene disorders by detecting

The Genetic Testing Registry of the U.S.National Institutes of Health acts as a clearinghouse to provide information on genetic tests.

Newborn screening reveals that newborn Jessica has inherited phenylketonuria (PKU) .Her parents are distraught at the diagnosis,but a nutritionist explains that Jessica can be treated,right away.The treatment for PKU is

Which of the following might a genetic counselor do as part of her job?

Genetic counseling to help patients with Huntington disease in their families decide if they wish to be tested

Maxwell needs to take an anti-depressant drug.He enrolls in a clinical trial to detect genetic variants and gene expression profiles associated with response to various drugs.This approach to selecting a therapeutic drug is called

Enzyme replacement therapy treats

Macy has BRCA1 breast cancer.Her sister Philene is healthy,but wants to know if she has inherited the BRCA1 mutation that could make her develop cancer.She is a candidate for a

Nondirective genetic counseling

The field of genetic counseling began when the term was coined

A genetic counselor might discuss assisted reproductive technologies with a couple who wish to

Unlike cholesterol checks and chest x-rays,the results of genetic tests may have repercussions to family members who share genotypes that can affect health

Diagnosis of hereditary hemochromatosis cannot be based on the results of a genetic test alone because

A test offered on the Web by a direct-to-consumer genetic testing company genotypes a gene for ability to taste bitter substances.This test is not regulated by the Clinical Laboratory Improvement Amendments (CLIA) because

"Patients-in-waiting" are false positives whose newborn screening reveals disease markers,but never develop the predicted symptoms.

Rita has been diagnosed with HER2 breast cancer,and is prescribed Herceptin.The approach of basing a drug prescription on the results of a single-gene test is called