Exam 4: Genetics and Genomics

b

A 20 year old patient has a family history of colon cancer. Genetic testing shows he has the gene for familial adenomatous polyposis (FAP). What should the nurse teach the patient to do? a. change his diet b. have annual colonoscopies c. consider a referral for gene therapy d. not to have children so that they will not be affected

d

A 21 year old patient says no one in his family has type 1 DM, but he has had it since childhood. He asks how his diabetes was transmitted to him. The nurse should explain to him that this disease is a. a single gene disorder b. a chromosome disorder c. an acquired genetic disorder d. a mutlifactorial genetic disorder

c e

A 26 year old man was adopted. What health information related to his biologic parents and family will be most useful to him when he gets married? (Select all that apply) a. cholecystitis occurring in family members b. occurrence of prostate cancer in one uncle c. ages of family members diagnosed with disease d. kidney stones present in extended family members e. age and cause of death of deceased family members

a

A couple lost a second baby to miscarriage. They are both considering having genetic testing done before tying to get pregnant again. What should the nurse include when teaching about genetic testing? a. a particular gene test will tell them if there is a specific genetic change b. the test results will identify the diseases their children will inherit from them c. genetic testing will determine if they are predisposed to developing a genetic disease d. genetic testing kits that are available on the internet are just as good and less costly than going to a genetic counselor

d

A couple who recently had a son with hemophilia A is consulting with a nurse. They want to know if their next child will have hemophilia A. The nurse can tell the parents that if their child is a a. boy, he will have hemophilia A b. boy, he will be a carrier of hemophilia A c. girl, she will be a carrier of hemophilia A d. girl, there is a 50% chance she will be a carrier of hemophilia A

c

A father who has an X-linked recessive disorder and a wife with a normal genotype will a. pass the carrier state to his male children b. pass the carrier state to all of his children c. pass the carrier state to his female children d. not pass on the genetic mutation to any of his children

d

A male and female are both carriers for sickle cell disease and express concern about having children with the disorder. Which response by the nurse is most appropriate? A. "It would be a good idea to contact an adoption agency." B. "One parent must have the disorder if a child is affected." C. "Your children will most likely be born with the disorder." D. "There is a 25% chance that your child will have the disorder."

d

A man with mild hemophilia asks the nurse, Will my children be hemophiliacs? Which response by the nurse is appropriate? a. All of your children will be at risk for hemophilia. b. Hemophilia is a multifactorial inherited condition. c. Only your male children are at risk for hemophilia. d. Your female children will be carriers for hemophilia.

c

A patient whose mother has been diagnosed with BRCA generelated breast cancer asks the nurse, Do you think I should be tested for the gene? Which response by the nurse is most appropriate? a. In most cases, breast cancer is not caused by the BRCA gene. b. It depends on how you will feel if the test is positive for the BRCA gene. c. There are many things to consider before deciding to have genetic testing. d. You should decide first whether you are willing to have a double mastectomy.

a

A patient with a parent that has polycystic kidney disease does not want to have genetic testing done for polycystic kidney disease because they are worried that health insurance will be discontinued if genetic abnormalities are found. Based on the nurse's knowledge of the Genetic Information Nondiscrimination Act (GINA), what should the nurse teach this patient? a. GINA should protect her from this happening. b. GINA does not extend to cover preexisting conditions. c. GINA will only protect her after she is diagnosed with polycystic kidney disease. d. GINA health coverage nondiscrimination protection also extends to life insurance.

a

A pregnant patient with a family history of cystic fibrosis (CF) asks for information about genetic testing. The most appropriate action by the nurse is to a. refer the patient to a qualified genetic counselor. b. ask the patient why genetic testing is important to her. c. remind the patient that genetic testing has many social implications. d. tell the patient that cystic fibrosis is an autosomal-recessive disorder.

c

A preschool child was diagnosed with type 1 diabetes mellitus. The parent says that no one else in the family has had diabetes and asks why the child would get it. How should the nurse explain this complex disease? a. It is a congenital disorder that she was born with. b. It is a single gene disorder, meaning only one gene mutation caused the disease. c. It is a multifactorial genetic disorder caused by one or more genes and environmental factors. d. It was an acquired genetic mutation, meaning she developed it, but her children will not have it.

c

A woman with ovarian cancer would like to know which kind of genetic testing could help prevent her daughters from getting ovarian cancer. What should the nurse tell this patient? a. Forensic testing b. Carrier screening c. Predictive testing d. Prenatal diagnostic testing

d

A young mother is worried that her female baby will have hemophilia because the baby's father has it. How should the nurse explain this genetic disorder to the young mother? a. Nearly all affected people are male. b. Daughters of affected males will be carriers. c. The daughter has a 50% chance of being affected. d. If the mother is a carrier, the patient could have hemophilia.

Multifactorial genetic disorders

Classification of Genetic Disorders These genetic disorders are complex diseases that result from small inherited variations in genes, often acting together with environmental factors

Single gene disorders

Classification of Genetic Disorders These genetic disorders result from only one gene mutation. Examples include cystic fibrosis, sickle cell disease, and polycystic kidney disease

a b c d

Common causes of genetic mutations include (Select all that apply) a. DNA damage from toxins b. DNA damage from UV radiation c. inheritance of altered genes from father d. inheritance of altered genes from mother e. inheritance of somatic mutations from either parent

Microarrays

DNA Fingerprinting DNA _________ (DNA Chips) is a technology used to measure the expression levels of large numbers of genes simultaneously or to genotype multiple regions of a genome

Polymerase

DNA Fingerprinting _________ chain reaction is a key element in genetic fingerprinting. It is an essential technique to finding mutations in genes. It is also used extensively in forensic medicine to identify DNA of criminal suspects by using samples form blood, hair, saliva, and semen

b

For which individual is genetic carrier screening indicated? a. A patient with a history of type 1 diabetes b. A patient with a family history of sickle cell disease c. A patient whose mother and sister died of breast cancer d. A patient who has a long-standing history of iron-deficiency anemia

Vector

Gene Therapy During gene therapy, a gene that is inserted directly into a cell usually does not function. A carrier molecule called a ________ must be used to deliver the therapeutic gene to the patient's target cells

d

If a person is heterozygous for a given gene, it means that the person a. is a carrier for a genetic disorder b. if affected by the genetic disorder c. has two identical alleles for the gene d. has two different alleles for the gene

a d

If a person tests positive for a genetic mutation, it means (Select all that apply) a. that the laboratory found an alteration in a gene b that the person is predisposed to develop a genetic disease c. that the person will develop the disease at some point in time d. there is the possibility that other family members may also be at risk e. that the person should not have any children or any additional children

a

In counseling a couple in which the man has an autosomal recessive disorder, and the woman has no gene for the disorder, the nurse uses Punnett squares to show the couple that the probability of their having a child with the disorder is a. 0%. b. 25%. c. 50%. d. 75%.

Autosomal Dominant

Inheritance Patterns -Breast and ovarian cancer related to BRCA genes -Familial hypercholesterolemia -Hereditary nonpolyposis colorectal cancer -Huntington's disease -Neurofibromatosis -Marfan's syndrome

Autosomal Recessive

Inheritance Patterns -Cystic fibrosis -Phenylketonuria -Sickle cell disease -Tay-Sach's disease -Thalassemia

X-Linked Recessive

Inheritance Patterns -Duchenne muscular dystrophy -Hemophilia -Wiskott-Aldrich syndrome

Autosomal Recessive

Inheritance Patterns -Males and females are affected equally -Heterozygotes are carriers and usually asymptomatic -Affected individuals may have unaffected parents who are heterozygous for a trait -Children of two heterozygous parents have 25% chance of being affected and 50% chance of being carriers -Frequently no family history of disease

Autosomal Dominant

Inheritance Patterns -Males and females equally affected (have the disease) -More common and usually less severe -Affected individuals show variable expression -Children of a heterozygous parent have a 50% chance of being affected -Individuals are effected in successful generations

X-linked Recessive

Inheritance Patterns -Most affected individuals have unaffected parents -Affected individuals usually male -Daughters of affected male are carriers -Sons of affected male are unaffected (unless mom is a carrier)

Incomplete

Inheritance Patterns Although autosomal dominant disorders have a high probability of occurring in families, sometimes these disorders cause a new mutation or skip a generation. This is termed ___________ penetrance

Autosomal

Inheritance Patterns If a mutant gene is located on an autosome, the genetic disorder is called this

X-linked

Inheritance Patterns If the mutant gene is located on the X chromosome, the genetic disorder is called this

Multifactorial

Inheritance Patterns _______________ inherited conditions are caused by a combination of genetic and environmental factors. These disorders run in families but do not show the same inherited characteristics as the single gene mutation conditions Ex. DM, obesity, HTN, cancer, CAD

Negative

Interpreting Genetic Test Results A _________ test result means that the lab did not find an altered form of the gene, chromosome, or protein under consideration

Positive

Interpreting Genetic Test Results A _________ test result means that the lab found a change in a particular gene, chromosome, or protein that was being tested

c

Physical trails expressed by an individual is the definition for what term? a. allele b. genomics c. phenotype d. chromosomes

Niche

Stem Cell Therapy Adult stem cells are thought to reside in a specific area of each tissue called a stem cell _______

Repair

Stem Cell Therapy The primary role of adult stem cells in the body are to maintain and ________ tissues in which they are found

Adult

Stem Cell Therapy These types of stem cells are undifferentiated cells that are found in small numbers in many adult organs and tissues, including brain, bone marrow, peripheral blood, blood vessels, skeletal muscle, skin, teeth, heart, GI, liver, and testes

Embryonic

Stem Cell Therapy These types of stem cells come from the embryo at a very early stage in development and have the ability to become any one of hundreds of types of cells in the body

b

The National Marrow Donor Program obtains hematopoietic stem cells from donors for recipients in need. When discussing this donation with the donor, what should the nurse know about these stem cells? a. they must come from an embryo or umbilical cord b. these cells will form new blood cells for the recipient c. taking these cells will cause the donor to become anemic d. these cells must be removed with bone marrow aspiration

d

The couple is adopting a baby. What health information related to the baby's biologic parents will be most useful to the parents and the baby as she grows up? a. The grandmother had breast cancer. b. The family has a history of Alzheimer's disease. c. The family has an individual with Down syndrome. d. The family has familial adenomatous polyposis (FAP).

a d

The couple is delivering their first child. What newborn genetic screening should the nurse teach them about? (Select all that apply) a. Phenylketonuria b. Dienoyl-CoA reductase c. Polycystic kidney disease d. Congenital hypothyroidism e. Hereditary nonpolyposis colorectal cancer syndrome

a

The daughter of a man with Huntington's disease is having presymptomatic genetic testing done. What does a positive result mean for her? a. she will get the disease b. she is a carrier of Huntington's disease c. she will be at increased risk for developing the disease d. she should change her diet, exercise, and environment to prevent the disease

a

The health care provider is having difficulty finding the appropriate dose for the patient taking warfarin. What can the nurse suggest that may solve this problem? a. pharmacogenomic testing b. start bivalirudin (Angiomax) IV c. change from warfarin to clopidogrel (Plavix) and aspirin d. change from warfarin to enoxaparin (Lovenox) injections

a

The health care provider plans to prescribe trastuzumab (Herceptin) for the patient with breast cancer. What testing will the HCP order before prescribing this medication? a. HER2 protein levels b. BRCA 2 gene mutation c. BRCA 1 gene mutation d. Stage II cancer identification

a

The new parents of an infant born with Down syndrome ask the nurse what happened to cause the chromosomal abnormality. What is the best response by the nurse? a. "During cell division of the reproductive cells there is an error causing an abnormal number of chromosomes." b. "A mutation in one of the chromosomes created an autosomal recessive gene that is expressed as Down syndrome." c. "An abnormal gene on one of the two chromosomes was transferred to the fetus, causing an abnormal chromosome." d. "A process of translocation caused the exchange of genetic material between the two chromosomes in the cell, resulting in abnormal chromosomes."

a

The nurse discusses the prevention and management of allergic reactions with a beekeeper who has developed a hypersensitivity to bee stings. The nurse identifies a need for additional teaching when the patient states, a. I will plan to take oral antihistamines daily before going to work. b. I will get a prescription for epinephrine and learn to self-inject it. c. I should wear a Medic Alert bracelet indicating my allergy to bee stings. d. I am going to need job retraining so that I can work in a different occupation.

c

The parents of a child diagnosed with cystic fibrosis ask the nurse what happened to cause this disease. What is the best response by the nurse? a. It is X-linked, so it was passed to the child from the mother. b. It is a chromosome disorder that usually skips a generation. c. It is autosomal recessive, so both copies of the gene are abnormal. d. It is autosomal dominant, so the abnormal gene allele is expressed instead of the normal allele.

c

The patient has late stage non-small cell lung cancer. The physician is considering using crizotinib for this patient. What should the nurse prepare the patient for before the medication is prescribed? a. Give chemotherapy first. b. Test for hypersensitivity to this drug. c. Test for the abnormal anaplastic lymphoma kinase (ALK) gene. d. Test for gene abnormalities that will affect the appropriate dose.

Pharmacogenetics

This is the study of genetic variability of drug responses related to variations in single genes

Pharmacogenomics

This is the study of genomic variation associated with drug responses

Epigenetics

This is the study of the chemical modification of specific genes or gene-associated proteins of an organism

Polymorphisms

This term means subtle variations in DNA. These account for slight variations among people such as hair and eye color

c

Two adult children of a parent who has Huntington's disease cannot agree on whether or not to be tested for Huntington's disease because of the cost. What assistance should the nurse give when discussing presymptomatic genetic testing? a. "If one child has the disease, the other will as well." b. "A positive genetic mutation increases your risk of the disease." c. "If there is a positive result, the patient will be diagnosed with the disease." d. "You could use a direct-to-consumer genetic test for making future life decisions."

Germline mutations

Types of Mutations These mutations are passed from parent to child. These are present in the oocyte and sperm cells. This type is present throughout a person's life in virtually every cell in the body

Acquired mutations

Types of Mutations These mutations occur in the DNA of a cell at some point during a person's life. They can occur if a mistake is made as DNA replicates or if environmental factors alter the DNA

b

What accurately describes gene therapy? a. may activate a mutated gene that is functioning properly b. is a risky technique under study for genetic diseases with no cure c. is frequently done by replacing a healthy gene with a mutated gene d. introduces a new gene into reproductive cells to help fight a genetic disease

d

What characterizes multifactorial genetic disorders? a. genetic testing available for most disorders b. commonly caused by single gene alterations c. many family members report having the disorder d. caused by complex interactions of genetic and environmental factors

d

What role does pharmacogenetics have in health care? a. it can assess individual variability to many drugs b. it can be used to determine the effectiveness of a drug c. it provides more important assessment data for gene therapy d. it can assess the variability of drug responses due to single genes

a

Which definition is the best description of the term genotype? a. genetic identify of an individual b. transmission of a disease from parent to child c. basic unit of heredity; arranged on chromosome d. family tree containing genetic characteristics and disorders of that family

c

Which instruction will be included when teaching a patient with possible allergies about intradermal skin testing? a. Do not eat anything for about 6 hours before the testing. b. Take an oral antihistamine about an hour before the testing. c. Plan to wait in the clinic for 20 to 30 minutes after the testing. d. Reaction to the testing will take about 48 to 72 hours to occur.

a b e

Which of the following statements accurately describes genetic testing? (Select all that apply) a. results of genetic testing may raise psychologic and emotional issues b. an ethical issue that is raised with genetic testing is protection of privacy to prevent discrimination c. genetic testing of the mother can be used to determine an unborn child's risk of having genetic conditions d. an example of genetic testing that is required by all states is premarital testing of women for the hemophilia gene e. genetic testing for BRCA1 and BRCA 2 mutations can identify women who may choose to have mastectomies to prevent breast cancer

d

Which patient would the nurse identify as most at risk for developing a genetic-related disorder? A. A 26-year-old woman who has a history of 3 miscarriages B. An 18-year-old man who is a carrier for an autosomal recessive genetic disorder C. A 32-year-old woman who reports her mother died from a serious drug reaction D. A 40-year-old man who reports his father and two sisters have type 2 diabetes