207 Questions
What is a primary goal of genetic counseling?
To discuss the natural history of the disease and determine the risk for other family members
What is the significance of family history in genetic counseling?
It provides information on the impact of genetics on an individual's health
How do geneticists use family history to assess risk for disease?
By applying the rules of Mendelian inheritance
What is the role of a genetic counselor in helping families cope with a heritable condition?
To carry out a careful assessment of the psychological and social impact
Why is family history important in assessing the risk for complex disorders?
Because it provides information on genetic susceptibility
What is the purpose of molecular genetic and genomic testing in genetic counseling?
To mitigate or reduce the risk for heritable disease
What do family members often share that may interact to cause genetically complex diseases?
Shared environmental factors, such as diet and behavior
How much does having a first-degree relative with a common disease increase an individual's risk for the disease?
Twofold to threefold
What is the relative risk for a male with three male first-degree relatives with prostate cancer?
Elevenfold
What is the classification if an individual has two affected first-degree relatives or one first-degree relative with early disease onset and an affected second-degree relative?
High Risk
Why is it important to determine an individual's risk based on their family history?
To determine the individual's medical care and prevention strategies
What is the recommended age for individuals with a positive family history to start colon cancer screening by colonoscopy?
40 years
What is the primary concern of clinical genetics?
Diagnosis and management of hereditary disease
What is essential in clinical genetics?
Making a correct diagnosis
What may involve laboratory testing, including genetic testing to find the mutations responsible?
Diagnosis of hereditary disease
What is the goal of genetic counseling?
To diagnose and manage hereditary disease
What is the primary purpose of amniocentesis?
To assess fetal viability
What is the typical gestational age range for amniocentesis?
16-20 weeks
What is the significance of alpha-fetoprotein (AFP) in amniotic fluid?
It detects open neural tube defects
What is the main differences between the three types of spina bifida?
The severity of nerve damage
What is the most common age range for breast cancer diagnosis?
55 years or older
What is the significance of estrogen receptors in breast cancer cells?
They play a role in the growth of breast cells
What is the primary goal of testing AFP levels in amniotic fluid?
To assess the risk of open neural tube defects
What is the significance of genetic history in breast cancer risk?
It doubles breast cancer risk
What is the role of HER2 in breast cancer cells?
It is a protein that affects breast cell growth
What is the purpose of ultrasonographic scanning before amniocentesis?
To assess the position of the fetus and placenta
What is the main characteristic of triple-negative breast cancers?
They have limited treatment options and grow and spread faster
What percentage of breast cancer cases are thought to be hereditary?
5% to 10%
What is the function of the BRCA1 and BRCA2 genes in normal cells?
They help make proteins that repair double-strand DNA breaks
What is a characteristic of breast cancers associated with BRCA1 mutations?
They are more likely to be oestrogen receptor negative
What is a characteristic of breast cancers associated with BRCA2 mutations?
They are more likely to be oestrogen receptor positive
Why are treatments for HER2 positive and hormone receptor positive cancers not effective for triple-negative breast cancers?
Because they have different characteristics and biology
What is the primary goal of genetic counseling?
To help the affected person and family members understand the disorder
What is unique about genetic disease?
Its tendency to recur within families
What is the purpose of prenatal diagnosis and screening?
To inform pregnant women about the risk for birth defects or genetic disorders
What is the difference between prenatal screening and prenatal diagnosis?
Prenatal screening is non-invasive, while prenatal diagnosis is invasive
What is the purpose of amniocentesis?
To acquire fetal cells or amniotic fluid for analysis
What is the role of genetic counselors in informing family members of their potential risk?
To work with the patient to inform other family members of their potential risk
What is a common indication for genetic counseling?
All of the above
What is the purpose of collecting information in genetic counseling?
To collect family history and medical history
What is the goal of prenatal screening?
To inform pregnant women about the risk for birth defects or genetic disorders
What is the unique aspect of genetic counseling?
Its focus on both the original patient and their family members
What do hormone receptors in breast cancer cells respond to?
Estrogen and progesterone
What is the purpose of hormone therapy drugs in breast cancer treatment?
To lower estrogen levels or block estrogen receptors
What is the function of HER2 proteins in breast cells?
To manage cell growth, division, and repair
What is the consequence of high levels of HER2 proteins in breast cells?
Abnormal cell division and spread
What is the purpose of trastuzumab in HER2-positive breast cancer treatment?
To bind to the extracellular domain of the HER2 receptor
What is the purpose of IHC testing in breast cancer diagnosis?
To identify HER2 receptors on breast cells
What is the significance of a score of 3+ in IHC testing?
HER2 positive
What is the purpose of FISH testing in breast cancer diagnosis?
To visualize genes
What is the characteristic of triple-positive breast tumors?
HER2+, ER+, and PR+
What is the characteristic of triple-negative breast cancer?
HER2-, ER-, and PR-
What is the primary focus of a genetic counselor when assessing the psychological and social impact of a diagnosis?
The emotional and social well-being of the patient and their family
How do geneticists use the rules of Mendelian inheritance?
To provide accurate evaluations of risk for disease in relatives of affected individuals
What is the significance of family history in genetic counseling?
It indicates the impact of an individual's genetic makeup on their health
What is the role of molecular genetic and genomic testing in genetic counseling?
To mitigate or reduce the risk for heritable disease
What is the significance of a person's genes being shared with their relatives?
It provides information on the impact of an individual's genetic makeup on their health
What is the primary goal of genetic counseling in relation to heritable disease?
To mitigate or reduce the risk for heritable disease
What is the primary goal of prenatal diagnosis?
To inform pregnant women and couples about the risk for birth defects or genetic disorders
What is a common indication for genetic counseling?
All of the above
What is the role of a genetic counselor in informing family members of their potential risk?
To inform other family members of their potential risk
What is the purpose of amniocentesis?
To acquire fetal cells or amniotic fluid for analysis
What is unique about genetic counseling?
It focuses on both the original patient and also on members of his or her family
What is the primary goal of prenatal screening?
To screen for certain birth defects in pregnancies not known to be at an increased risk
What is the primary purpose of amniocentesis?
To assess fetal viability and detect genetic disorders
What is the significance of family history in genetic counseling?
It is essential in assessing risk for disease and guiding management
What is alpha-fetoprotein (AFP)?
A fetal glycoprotein produced mainly in the liver
What is the purpose of genetic counseling?
To help the affected person and family members understand and come to terms with the nature and consequences of the disorder
What is the purpose of informing other family members of their potential risk?
To offer mutation or other testing to provide the most precise risk assessments possible for other family members
What is the significance of an elevated AFP level in amniotic fluid?
It indicates a high risk for open neural tube defects
What is spina bifida?
A type of neural tube defect
What is the difference between prenatal screening and prenatal diagnosis?
Prenatal screening is for all pregnancies, while prenatal diagnosis is for high-risk pregnancies
What is the main risk factor for breast cancer?
Age
What is the purpose of testing for estrogen receptors in breast cancer cells?
To guide hormone therapy
What is the significance of HER2 in breast cancer cells?
It is a type of protein that fuels cancer growth
What is the purpose of ultrasonographic scanning before amniocentesis?
To determine the position of the fetus and placenta
What percentage of breast cancers are thought to be hereditary?
5-10%
What is the primary goal of amniocentesis in detecting genetic disorders?
To provide prenatal diagnosis and risk assessment
What is the approximate increase in an individual's risk for a disease if they have a first-degree relative with a common disease?
Twofold to threefold
Which of the following factors contributes to a higher risk of developing a disease in an individual?
Earlier onset of disease in a first-degree relative
What is the classification of an individual's risk if they have two affected first-degree relatives or one first-degree relative with early disease onset and an affected second-degree relative?
High risk
What is the recommended age for individuals with a positive family history to start colon cancer screening by colonoscopy?
40 years old
What is the primary focus of clinical genetics?
Diagnosis and management of hereditary disease
What is the significance of determining an individual's risk based on their family history?
It allows for targeted management and prevention of disease
What is the significance of a family history of unexplained deep venous thrombosis in a relative younger than 50 years?
It increases the risk of deep venous thrombosis
What is the goal of assessing an individual's family history in genetic counseling?
To determine the risk of developing a disease
What is the significance of having multiple affected second-degree relatives with late or unknown disease onset?
It increases the risk of developing a disease
What is the primary role of genetic counseling in clinical practice?
To assess an individual's risk of developing a disease based on their family history
What is the main difference between triple-negative breast cancers and other types of invasive breast cancer?
They grow and spread faster, have limited treatment options, and a worse prognosis
What is the role of the BRCA1 and BRCA2 genes in normal cells?
They repair double-strand DNA breaks via homologous recombination
What is the characteristic of breast cancers associated with BRCA1 mutations?
They are more likely to be estrogen receptor negative and triple-negative
What percentage of breast cancer cases are thought to be hereditary?
5-10%
Why are treatments for HER2 positive and hormone receptor positive cancers not effective for triple-negative breast cancers?
Because they are not sensitive to HER2 targeted therapy
What is the consequence of mutated BRCA1 or BRCA2 genes?
They lead to abnormal cell growth, which can lead to cancer
What happens when estrogen and progesterone attach to their receptors in breast cells?
The cells receive signals that promote their growth.
What is the function of HER2 proteins in breast cells?
Managing cell growth, division, and repair.
What is the significance of a score of 2+ in IHC testing?
The result is borderline.
What is the purpose of FISH testing in breast cancer diagnosis?
To visualize specific genes or portions of genes.
What is the characteristic of triple-negative breast cancers?
They don't have estrogen or progesterone receptors and don't overexpress HER2.
What is the purpose of trastuzumab in HER2-positive breast cancer treatment?
To target the HER2 protein.
What is the significance of hormone therapy drugs in breast cancer treatment?
They lower estrogen levels or block estrogen receptors.
What is the purpose of IHC testing in breast cancer diagnosis?
To measure the amount of HER2 protein on cell surfaces.
What is the consequence of high levels of HER2 proteins in breast cells?
The cells divide and spread abnormally.
What is the significance of immunohistochemical stains (IHC) in breast cancer diagnosis?
It selectively identifies antigens in cells of a tissue section.
What is the primary purpose of assessing the psychological and social impact of a diagnosis on a patient and their family?
To help the family cope with a heritable condition
What is the significance of applying the rules of Mendelian inheritance in genetic counseling?
To provide accurate evaluations of risk for disease in relatives of affected individuals
How does a person's genes affect their relatives' health?
Through shared genetic makeup
What is the role of molecular genetic and genomic testing in genetic counseling?
To mitigate or reduce the risk for heritable disease
What is the significance of family history in genetic counseling?
It provides information on the impact of an individual's genetic makeup on their health
What is the role of the genetic counselor in assessing the risk for disease?
To determine the risk of disease in relatives based on the inheritance pattern
What is the primary concern of clinical genetics?
Diagnosis and management of hereditary disease
What is the significance of having two first-degree relatives with a common disease?
It raises the individual's risk for the disease approximately twofold to threefold
What is the recommended age for individuals with a positive family history to start colon cancer screening by colonoscopy?
40 years old
What is the primary goal of genetic counseling in clinical practice?
To make a correct diagnosis
What is the significance of family history in risk assessment?
It provides information about shared genes and environmental factors
What is the classification if an individual has three or more affected maternal or paternal relatives?
High risk
What is the purpose of genetic testing in genetic counseling?
To find the mutations responsible for the disease
What is the significance of age at onset of a disease in a first-degree relative?
It increases the individual's risk for the disease
What is the primary purpose of family history in risk assessment?
To provide information about shared genes and environmental factors
What is the consequence of having a first-degree relative with a common disease?
It raises the individual's risk for the disease approximately twofold to threefold
What is the primary focus of genetic counseling in relation to the original patient and their family members?
Informing other family members of their potential risk and offering mutation testing
What is the primary goal of prenatal screening?
Informing pregnant women and couples about the risk for birth defects or genetic disorders
What is the significance of a family history of hereditary conditions in genetic counseling?
It is used to determine the risk of a genetic disorder in the patient's family members
What is the purpose of chorionic villus sampling (CVS) in prenatal diagnosis?
To acquire fetal cells for analysis in pregnancies at an elevated risk for a genetic disorder
What is the role of genetic counselors in informing family members of their potential risk?
To inform other family members of their potential risk and offer mutation testing
What is the primary difference between prenatal screening and prenatal diagnosis?
Prenatal screening is used to determine the risk of a genetic disorder, while prenatal diagnosis is used to diagnose genetic disorders
What is the significance of collecting information in genetic counseling?
It helps assess the risk of a genetic disorder and develop a management plan
What is the purpose of amniocentesis?
To acquire fetal cells for analysis in pregnancies at an elevated risk for a genetic disorder
What is the unique aspect of genetic counseling?
It focuses on both the original patient and their family members, both present and future
What is the primary goal of genetic counseling in relation to the patient's family members?
Informing other family members of their potential risk and offering mutation testing
At what gestational age is amniocentesis typically performed?
Between 16th and 20th week
What is the primary purpose of testing AFP levels in amniotic fluid?
To detect open neural tube defects
What is the significance of estrogen receptors in breast cancer cells?
They play a role in the growth of breast cells
What is the main characteristic of spina bifida?
A sac of fluid coming through an opening in the baby's back
What is the purpose of ultrasonographic scanning before amniocentesis?
To guide the amniocentesis procedure
What is the primary goal of testing hormone receptors in breast cancer cells?
To determine the best course of treatment
What is the significance of family history in breast cancer risk?
It doubles the risk of developing breast cancer
What is the primary concern of clinical genetics?
Diagnosing and managing genetic disorders
What is the primary reason why treatments for HER2 positive and hormone receptor positive cancers are not effective for triple-negative breast cancers?
The cells lack the HER2 and hormone receptors
What is the role of HER2 proteins in breast cells?
They promote cell growth
What is the significance of genetic history in breast cancer risk?
It is responsible for 5-10% of breast cancer cases
What do BRCA1 and BRCA2 genes help to make in normal cells?
Proteins that repair DNA double-strand breaks
What is the characteristic of breast cancers associated with BRCA1 mutations?
They are often oestrogen receptor negative, progesterone receptor–negative, and HER2 receptor-negative
What is the consequence of mutated BRCA1 or BRCA2 genes?
Abnormal cell growth and increased risk of cancer
What is the typical age range for breast cancer diagnosis associated with BRCA1 mutations?
At a younger age
What percentage of breast cancer cases are thought to be hereditary?
5-10%
What is the primary reason why hormone therapy drugs are effective in treating certain breast cancers?
Because they target the estrogen receptors in breast cancer cells
What is the consequence of having an excess of HER2 proteins in breast cells?
The cells divide and spread abnormally
What is the purpose of FISH testing in breast cancer diagnosis?
To visualize specific genes or portions of genes in breast cancer cells
What is the characteristic of triple-negative breast cancers?
They are HER2-negative, ER-negative, and PR-negative
What is the purpose of trastuzumab in HER2-positive breast cancer treatment?
To block the activation of HER2 receptors in breast cancer cells
What is the significance of a score of 3+ in IHC testing?
It indicates that the cancer cells are HER2-positive
What is the role of hormone receptors in breast cancer cells?
They promote the growth and division of breast cancer cells
What is the purpose of IHC testing in breast cancer diagnosis?
To determine the presence of HER2 proteins in breast cancer cells
What is the significance of estrogen receptors in breast cancer cells?
They promote the growth and division of breast cancer cells
What is the purpose of trastuzumab in combination with chemotherapy in HER2-positive breast cancer treatment?
To enhance the effectiveness of chemotherapy
What is the primary focus of genetic counseling?
Assessing the psychological and social impact of a diagnosis
What is the significance of family history in genetic counseling?
It helps determine the risk of disease in other family members
What is the purpose of molecular genetic and genomic testing?
To mitigate or reduce the risk of heritable disease
What is the role of a genetic counselor in helping families cope with a heritable condition?
To assess and address the psychological and social impact of the diagnosis
What is the significance of a person's genes in relation to their relatives?
They share the same genetic makeup
What is the primary benefit of applying the rules of mendelian inheritance?
Accurate evaluation of risk for disease in relatives
What is the primary reason why treatments for HER2 positive and hormone receptor positive cancers are not effective for triple-negative breast cancers?
Triple-negative breast cancers lack HER2 and hormone receptors
What percentage of breast cancer cases are thought to be hereditary?
5% to 10%
What is the function of the BRCA1 and BRCA2 genes in normal cells?
To help repair DNA breaks
What is the role of hormone receptors in breast cancer cells?
To respond to hormone therapy drugs
What is a characteristic of breast cancers associated with BRCA1 mutations?
They are more likely to be estrogen receptor negative
What is the consequence of mutated BRCA1 or BRCA2 genes?
Abnormal cell growth and increased risk of cancer
What is the consequence of high levels of HER2 proteins in breast cells?
Cells divide and spread abnormally
What is a characteristic of triple-negative breast cancers?
They grow and spread faster
What is the purpose of trastuzumab in HER2-positive breast cancer treatment?
To bind to the extracellular domain of the HER2 receptor
What is the significance of a score of 3+ in IHC testing?
The cancer is HER2-positive
What is the purpose of FISH testing in breast cancer diagnosis?
To detect extra copies of the HER2 gene
What is characteristic of triple-negative breast cancers?
They lack estrogen and progesterone receptors and do not overexpress HER2
What is the purpose of IHC testing in breast cancer diagnosis?
To measure the amount of HER2 receptor protein on the surface of cells
What is the role of estrogen receptors in breast cancer cells?
To promote cell division and growth
What is the significance of HER2/neu receptors in breast cancer cells?
They promote cell growth and division
What is the purpose of hormone therapy drugs in breast cancer treatment?
To block estrogen receptors
What is the approximate increase in an individual's risk for a common disease if they have a first-degree relative with the disease?
Twofold to threefold
What is the significance of early onset of disease in a family member in risk assessment?
It increases the risk of the disease
What is the classification if an individual has two affected first-degree relatives with late or unknown disease onset and an affected second-degree relative with premature disease from the same lineage?
High Risk
What is the impact of determining an individual's risk based on their family history on individual medical care?
It may lead to different management and testing strategies
What is the purpose of collecting family history in genetic counseling?
To assess the patient's risk for certain diseases
What is the role of clinical genetics in medicine?
To diagnose and manage medical conditions
What is the significance of having multiple affected relatives in risk assessment?
It increases the risk of the disease
What is the recommended age for colon cancer screening by colonoscopy for individuals with a positive family history?
40 years
What is the purpose of genetic testing in clinical genetics?
To find the mutations responsible for a disease
What is the significance of age at onset of disease in a family member in risk assessment?
It increases the risk of the disease if the disease occurs early
What is the primary purpose of ultrasonographic scanning before amniocentesis?
To assess fetal viability and gestational age
What is the main advantage of assaying alpha-fetoprotein (AFP) in amniotic fluid?
To diagnose open neural tube defects
What is the typical gestational age range for amniocentesis?
Between 16th and 20th weeks
What is the significance of elevated AFP levels in amniotic fluid?
Suggests a high risk for open neural tube defects
What is the primary purpose of breast cancer screening?
To diagnose breast cancer at an early stage
What is the role of hormone receptors in breast cancer cells?
To stimulate cell division and growth
What is the significance of HER2 proteins in breast cancer cells?
They stimulate cell division and growth
What is the consequence of high levels of HER2 proteins in breast cells?
Cell division and growth are stimulated
What is the primary responsibility of genetic counselors in regards to family members?
To inform other family members of their potential risk and offer testing
What is the primary goal of testing AFP levels in amniotic fluid?
To diagnose open neural tube defects
What is the main difference between prenatal diagnosis and prenatal screening?
Prenatal diagnosis is for pregnancies at high risk, while prenatal screening is for all pregnancies
What is the significance of genetic history in breast cancer risk?
It increases the risk of breast cancer
What is the purpose of collecting information in genetic counseling?
To assess the risk of a genetic disorder in the family
What is a common indication for genetic counseling?
All of the above
What is the purpose of amniocentesis?
To detect genetic disorders in the fetus
What is unique about genetic disease?
It tends to recur within families
What is the role of a genetic counselor in providing therapy?
To provide psychosocial support to patients and their families
What is the goal of prenatal screening?
To inform pregnant women and couples about the risk for birth defects or genetic disorders in their fetus
What is the unique aspect of genetic counseling?
It focuses on both the patient and their family members
Study Notes
Genetic Counseling
- Genetic counseling includes a discussion of the natural history of the disease and determination of the risk for disease in other family members based on the inheritance pattern, risk figures, and medical testing, especially molecular genetic and genomic testing.
- The genetic counselor carries out a careful assessment of the psychological and social impact of the diagnosis on the patient and family and works to help the family cope with the presence of a heritable condition.
Family History
- Family history is crucial in diagnosis and risk assessment for genetic disorders.
- Applying the rules of Mendelian inheritance allows geneticists to provide accurate evaluations of risk for disease in relatives of affected individuals.
- Family history is also important for assessing the risk for complex disorders.
- A person's genes are shared with their relatives, providing information on the impact of an individual's genetic makeup on their health.
- Family history provides information about both shared genes and shared environmental factors that may interact to cause common, genetically complex diseases.
Risk Assessment
- Having a first-degree relative with a common disease increases an individual's risk for the disease approximately twofold to threefold relative to the general population.
- The more first-degree relatives one has with the disease and the earlier in life the disease occurs in a family member, the greater the load of susceptibility genes and environmental exposures likely to be present in the patient's family.
- High-risk factors include:
- Age at onset of a disease in a first-degree relative relatively early compared to the general population
- Two affected first-degree relatives
- One first-degree relative with late or unknown disease onset and an affected second-degree relative with premature disease from the same lineage
- Two second-degree maternal or paternal relatives with at least one having premature onset of disease
- Three or more affected maternal or paternal relatives
- Presence of a "moderate-risk" family history on both sides of the pedigree
- Moderate-risk factors include:
- One first-degree relative with late or unknown onset of disease
- Two second-degree relatives from the same lineage with late or unknown disease onset
- Average-risk factors include:
- No affected relatives
- Only one affected second-degree relative from one or both sides of the pedigree
- No known family history
- Adopted person with unknown family history
Genetic Counseling in Clinical Practice
- Clinical genetics is concerned with the diagnosis and management of the medical, social, and psychological aspects of hereditary disease.
- Genetic counseling involves making a correct diagnosis, helping the affected person and family members understand and come to terms with the nature and consequences of the disorder, and providing appropriate treatment and management.
Indications for Genetic Counseling
- Previous child with multiple congenital anomalies, intellectual disability, or an isolated birth defect such as neural tube defect or cleft lip and palate
- Personal history or family history of a hereditary condition, such as cystic fibrosis, fragile X syndrome, congenital heart defect, hereditary cancer, or diabetes
- Pregnancy at risk for a chromosomal or hereditary disorder
- Consanguinity
- Carcinogen exposure, such as to occupational chemicals, medications, or alcohol
- Repeated pregnancy loss or infertility
- Newly diagnosed abnormality or genetic condition
Prenatal Diagnosis and Screening
- Prenatal diagnosis and screening aim to inform pregnant women and couples about the risk for birth defects or genetic disorders in their fetus and provide them with informed choices on how to manage that risk.
- Prenatal screening typically involves noninvasive testing using maternal blood samples or imaging techniques such as ultrasonography or magnetic resonance imaging (MRI).
- Prenatal diagnosis often requires an invasive procedure such as chorionic villus sampling (CVS) or amniocentesis to acquire fetal cells or amniotic fluid for analysis.
Amniocentesis
- Amniocentesis is a procedure in which a needle is inserted into the amniotic sac to remove a sample of amniotic fluid for analysis.
- The amniotic fluid contains cells of fetal origin that can be cultured for diagnostic tests.
- Amniocentesis is typically performed between the 16th and 20th week after the first day of the last menstrual period.
- Alpha-fetoprotein (AFP) levels can be assayed in amniotic fluid to detect open neural tube defects (NTDs).
Learn about genetic counseling, its importance in diagnosis and risk assessment for genetic disorders, and how to assess the risk for disease in relatives. Discover the role of family history, Mendelian inheritance, and medical testing in genetic counseling.
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