Myriad Phase 1 Flashcards
T/F: An autosome is any of the numbered chromosomes, as opposed to the sex chromosomes.
True
T/F: All of our tests utilize next-generation sequencing technology.
True
T/F: In the case of an autosomal dominant condition, an individual must inherit two separate mutations to show symptoms of that condition.
False
T/F: In the case of an x-linked condition, an individual must inherit at least one mutation on an autosome to show symptoms of that condition.
False – Women usually don’t show symptoms, since they have two X chromosomes, so if they inherit one mutation they don’t usually show symptoms. Since men only have one X, one x-linked gene mutation will indeed show symptoms.
T/F: Screening tests can be used to identify individuals out of the general population that may be at increased risk for a particular condition.
True
T/F: Diagnostic tests cannot be used to identify or rule out the presence of a particular condition.
False
T/F: The “New OB visit” is an excellent opportunity for providers to discuss expanded carrier screening and hereditary cancer screening with their patients.
False
T/F: The “Well Woman Visit” is an excellent opportunity for providers to discuss expanded carrier screening and non-invasive prenatal screening for their patients.
False
T/F: You will often find genetic counselors working within Maternal Fetal Medicine practices.
True
T/F: OBGYNs specialize in managing high risk pregnancies such as those with ultrasound abnormalities, placental and growth insufficiency, and mother with diabetes or high blood pressure.
False
T/F: MFM providers will often discuss screening tests such as amniocentesis and chorionic villus sampling with their patients.
False
T/F: Expanded carrier screening, ultrasound, and screening for aneuploidy may be performed either by the obgyn provider or the MFM provider.
True
T/F: patients often self-refer to IVF providers and select a practitioner based on their reputation and success rates.
True
T/F: Within an IVF office, you may find a Reproductive Endocrinologist, an Embryologist, and a Donor Bank/Donor Coordinator.
True
T/F: An autosome is any of the numbered chromosomes, as opposed to the sec chromosomes.
True
T/F: All of o ur testing is completed via next generation sequencing.
True
T/F: In the case of an autosomal dominant condition, and individual must inherit two separate mutations to show symptoms of that condition.
False – In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes (autosomes). You need only one mutated gene to be affected by this type of disorder. A person with an autosomal dominant disorder has a 50% chance of having an affected child with one mutated gene (dominant gene) and a 50% chance of having an unaffected child with two normal genes (recessive genes).
T/F: In the case of an X-linked condition, an individual must inherit at least one mutation on an autosome to show symptoms of that condition
False
T/F: Screening tests can be used to identify individuals out of the general population that may be at increased risk for a particular condition.
True
T/F: Diagnostic tests cannot be used to identify or rule out the presence of a particular condition.
False
In a female BRCA1 positive patient, MRI’s should begin at age: [20, 25, 30 or 40?]
25
Bilateral Salpingo-Oophorectomy has been shown to reduce an ovarian cancer risk in a BRCA positive patient by as much as: [63%, 75%, 96%, or 100%?]
96%
Colonoscopy can reduce colon cancer by ___% and overall mortality by ___%: [20,30; 25,50; 50,65; 71,82?]
50, 65
In a patient with Lynch Syndrome, adenoma to cancer progression can take: [1-3 years, 5-10 years, or Unknown]
1-3 years
T/F: Clinically, patients with a VUS are manages as a negative.
True
T/F: The purpose of a screening test is to help you identify a target population, within a larger population
True
T/F: False positive and false negative results are possible, and can be expected, with screening tests.
True
T/F: Sensitivity is the % of patients without the disease that receive a negative result (# true negative // # unaffected)
False
T/F: Positive predictive value (PPV) is the chance that a positive result is a true positive
True
T/F: Screening for aneuploidy is offered during pregnancy because diagnostic testing can carry a small risk for pregnancy loss
True
T/F: Diagnostic tests allow for the production of a karyotype to determine if the correct number of chromosomes is present in a fetus
True
T/F: Ultrasound markers were added to maternal serum screening in 2010 to increase the detection rates.
False
T/F: Maternal serum screening involves the analysis of particular hormone or chemical levels in a pregnant mothers’ blood to determine the risk for specific chromosome conditions.
True
T/F: A quad screen involves testing for AFP, estirol, inhibinA, and measuring the nuchal translucency.
False
T/F: Integrated screening, Sequential screening and Contingent Screening are all variations on tests which combine blood work and ultrasound measurements taken in the second and third trimesters of pregnancy
False
T/F: Cell-free DNA screening allows for the separation and analysis of fetal DNA fragments in a pregnant mothers blood
False
T/F: Cell-free DNA screening can be performed any time after 10 weeks gestation
True
T/F: First trimester screening will provide information on open neural tube defects, such as spina bifida.
False
T/F: All forms of maternal serum screening provide information on sex chromosome aneuploidies, such as Turner syndrome.
False
T/F: Maternal serum screening is known to have a false positive rate of approx 5%
True
T/F: Some providers continue to use maternal serum screening and other forms of testing because they believe in the value of “off label” information provided by these options.
True
T/F: Most providers will choose one screening modality and use that one exclusively.
False
T/F: One of the key places of info you will need in planning to sell NIPS to a provider is understanding what they are currently offering to their patients and why.
True
In a poster presented at CGA in 2013, ___% of patients tested for HBOC also met NCCN criteria for Lynch Syndrome and ____% of patients tested for Lynch Syndrome met NCCN criteria for HBOC? [10, 50; 25,75; 7, 29; 15,20]
7, 29
T/F: Myriad myRisk Test Report summary of management recommendations are provided ONLY for positive patients.
False
A RED BAR on the Myriad myRisk Test Result indicates which of the following: [Elevated Risk; No Mutation was found in the genes tested; A genetic mutation was found in one or more of the genes tested; It is not known if the change is associated with an increased cancer risk.]
A genetic mutation was found in one or more of the genes tested.
T/F: Majority of the genes on myRisk have established NCCN or consensus management guidelines
True
Research suggests that Myriad provides a definitive result for __% of variants that would have been classified a VUS at other labs. [5; 10; 45; 90.]
45
Approx, what % of eligible women who test negative on myRisk will have a riskScore . [20%? 25%, 33%, 50%, 66%?]
33%
Approx, ___% of patients pay $0. [25: 33: 75: 100.]
75
Providers can complete a test request form online using the following: [Hereditary Cancer Quiz, MyriadPro, Google.]
MyriadPro
SNP stands for: [Small Nucleotide Polymorphism, Single Nucleotide Polymorphism, Single New Polymorphism, Scottish National Primates.]
Single Nucleotide Polymorphism
A single nucleotide polymorphism is a variation of one nucleotide at a single position in the DNA sequence that occurs in greater than __% of a certain population? [1%, 3%, 5%, 20%]
1%
Although Myriad uses the term polymorphism to refer to a benign genetic variation, in the strict definition of the term, not all polymorphisms are benign. T or F?
True
SNPs are generally associative of a disease, not causative. T or F?
True
A SNP association found in a specific population can be generalized to all populations. T or F?
False
SNPs can be associated with an increased or decreased risk of developing a certain disease. T/F?
True
In Mavaddat study discussed in this module, 77 breast cancer associated SNP’s were evaluated to contruct a scoring system referred to as the: [Lifetime Risk, Mavaddat Score, Polygenic Risk Score, Breast Cancer Risk]
Polygenic Risk Score
The findings from the Mavaddat study showed that the use of SNP analysis to generate a Polygenic Risk Score could help stratify breast cancer risk only in patients with a family history of breast cancer. T/F?
False
riskScore is a breast cancer risk prediction tool that provides women who are unaffected with breast cancer a remaining lifetime and 5-year calculation of their breast cancer risk. T/F?
True
riskScore is based on an analysis of:
[Genetic markers, personal clinical risk factors, and family history of cancer.
Claus and genetic markers
Personal clinical risk factors and family history of cancer
Genetic markers and family history of cancer]
Genetic markers, personal clinical risk factors, and family history of cancer.
Using the data of over 11k patients training study, Myriad was able to generate a single risk estimate using over ___ of the most useful genetic markers showing a consistent association with breast cancer risk. This set of genetic markers and the formula for estimating risk was validated in a study of over ___ could highly predict a breast cancer risk in a high risk patient population.
[50, 10,0000
70, 11,000
75, 15,000
80, 17,000]
80, 17,000
The Hughes study showed that the genetic markers used in the residual risk score (RRS) were highly predictive of breast cancer risk in women with and without a family history of breast cancer. T/F?
True
In order to receive a riskScore, a woman must meet the following criteria:
Be under the age of 85 of solely European ancestry
Have no personal history of breast cancer
Have no personal history of LCIS, Atypical Hyperplasia, or Hyperplasia, or a breast biopsy with unknown results.
Have no known breast cancer related gene mutation or any blood relatives with a breast cancer related gene mutation.
All of the above
All of the above
Patients who have tested positive for a non-breast cancer-related gene mutation such as MLH1 are not eligible to receive a riskScore. T/F
False
A ______ will appear when the patients remaining lifetime risk is at or above 20%?
Blank
Orange asterisk
Green negative
Red positive
Orange asterisk
riskScore will be reported as:
An average risk
Remaining lifetime and 5-year risk
10 year risk
An absolute risk
Remaining lifetime and 5-year risk
Medical management for patients who have both a riskScore and a Tyrer-Cuzick risk estimate of 20% or higher will be based on Tyrer-Cuzick. T/F?
True
Although NCCN and the ACS do not currently provide specific medical management guidelines based on riskScore or other polygenic tests, a riskScore of 20% or higher warrants consideration of medical management. T/F?
True
Which risk model is replacing Claus as the tool myRisk uses to assess a woman’s risk of breast cancer based on family history and clinical risk factors?
[Tyrer-Cuzick, BOADICEA, BRCAPRO, Gail]
Cuzick
What addtl information needs to be collected on the TRF in order to report a Tyrer-Cuzick risk estimate?
[Height/weight, Age of first menstrual period, menopausal status, parity and age of first live birth, hormone replacement therapy use, breast biopsy history, all of the above]
All of the above
What happens if the breast cancer risk model information is incomplete? [use average population data, an estimate wont be reported, Claus will be reported instead]
If certain info required to run Tyrer Cuzick is not provided on the TRF, the model will substitute average population data.
The breast cancer risk model information must be completed for:
[men, women with breast cancer, women who have never been diagnosed with breast cancer, women who have survived breast cancer]
Women who have never been diagnosed with breast cancer
In addition to cancer family history, Tyrer Cuzick considers hormonal and pathologic risk factors in its risk estimate T/F?
True