Genetic Counseling Overview
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Questions and Answers

What is a primary goal of genetic counseling?

  • To promote genetic testing in all patients.
  • To establish new genetic laws and regulations.
  • To conduct surgical interventions for genetic disorders.
  • To provide educational counseling for individuals and families with genetic disease. (correct)

    • What aspect of family history is crucial in genetic risk assessment?

  • The analysis of how lifestyle factors affect genetic disorders.
  • A comprehensive review of all patient contributed symptoms.
  • The creation of a genetic pedigree to assess hereditary patterns. (correct)
  • The documentation of medical treatments received by each family member.

    • Which process is a significant responsibility for physicians in genetic testing?

  • Counseling patients on the legal and ethical implications of genetic testing. (correct)
  • Providing all genetic information without understanding patient context.
  • Only advising patients on the benefits of testing.
  • Performing genetic tests without patient consent.

    • Which of the following is a benefit of genetic testing?

    <p>It allows for informed family planning based on genetic risks.</p> Signup and view all the answers

    What is a potential risk associated with genetic testing?

    <p>It can lead to emotional distress from knowledge of genetic predispositions.</p> Signup and view all the answers

    In the context of genetic counseling, which statement about the mode of inheritance is correct?

    <p>It encompasses both the risk of developing and transmitting a disorder.</p> Signup and view all the answers

    What role does carrier testing play in genetic counseling?

    <p>It assesses the genetic risk in high-risk populations.</p> Signup and view all the answers

    What is the primary focus of ethical concerns in medical genetics?

    <p>To ensure patient autonomy and informed consent in genetic testing.</p> Signup and view all the answers

    Which principle highlights the importance of ensuring all individuals are treated equally in healthcare?

    <p>Justice</p> Signup and view all the answers

    Under which circumstance can confidentiality be breached according to HIPAA?

    <p>To prevent or lessen a serious and imminent threat</p> Signup and view all the answers

    What does non-maleficence primarily relate to in medical ethics?

    <p>Avoiding harm to patients</p> Signup and view all the answers

    What is a key reason patients may choose to waive their confidentiality?

    <p>To allow physicians to share information</p> Signup and view all the answers

    Which statement about patient autonomy is correct?

    <p>It allows for limitations when harm to others is involved.</p> Signup and view all the answers

    In the context of genetic testing, who may need to be warned if a patient has a genetic risk?

    <p>Family members of the patient</p> Signup and view all the answers

    Which ethical principle focuses on doing good for patients?

    <p>Beneficence</p> Signup and view all the answers

    How does confidentiality encourage patient-physician relationships?

    <p>By fostering open communication of sensitive information</p> Signup and view all the answers

    What does expressivity refer to in genetic counseling?

    <p>The degree to which variations in genotype result in variations in phenotype</p> Signup and view all the answers

    Which of the following is NOT a factor typically considered in genetic counseling?

    <p>Environmental conditions affecting health status</p> Signup and view all the answers

    What is the primary purpose of prenatal diagnosis?

    <p>To diagnose genetic conditions in the fetus</p> Signup and view all the answers

    In genetic counseling, what does pleiotropy refer to?

    <p>One gene affecting multiple traits</p> Signup and view all the answers

    Which prenatal diagnostic technique is used to analyze chromosomes and DNA from amniotic fluid?

    <p>Amniocentesis</p> Signup and view all the answers

    Which statement about newborn screening is correct?

    <p>State-mandated tests can vary significantly from state to state.</p> Signup and view all the answers

    How is genetic heterogeneity defined in the context of genetic counseling?

    <p>Differences in genetic mutations leading to the same phenotype</p> Signup and view all the answers

    What principle is primarily used to estimate the probability of recurrence risk when the genotype is known?

    <p>Mendelian principles</p> Signup and view all the answers

    Why is Phenylketonuria (PKU) considered a prime candidate for mass newborn screening?

    <p>It has severe consequences if untreated.</p> Signup and view all the answers

    At what age is the newborn screening test for PKU typically performed?

    <p>After 24 hours of age</p> Signup and view all the answers

    What is the primary concern associated with advanced maternal age in genetic counseling?

    <p>Increased risk of conceiving a child with Down syndrome</p> Signup and view all the answers

    Which of the following is NOT a common genetic counseling strategy regarding known genetic conditions?

    <p>Lifestyle modification counseling</p> Signup and view all the answers

    What factors contribute to the justification of mass newborn screening for PKU?

    <p>Early treatment significantly improves outcomes for affected infants.</p> Signup and view all the answers

    Which of the following is NOT a technique mentioned for prenatal diagnosis?

    <p>Genetic counseling</p> Signup and view all the answers

    What does the term 'phenocopy' refer to in genetic counseling?

    <p>An environmental factor mimicking a genetic phenotype</p> Signup and view all the answers

    What is the main concern regarding delays in treating positive PKU test results?

    <p>Severe effects on intellectual outcomes.</p> Signup and view all the answers

    What is the American Medical Association's stance on a physician's duty to inform family members about genetic risks?

    <p>Physicians should maintain confidentiality and expect patients to inform their family members.</p> Signup and view all the answers

    Under what conditions can a physician notify a patient's family members about genetic risks according to the American Society of Human Genetics?

    <p>If all four factors are present.</p> Signup and view all the answers

    In the Pate v. Threlkel case, what was the ruling regarding a physician's duty to inform about genetic conditions?

    <p>Patients should be encouraged to inform their relatives about genetic risks.</p> Signup and view all the answers

    What constituted a significant factor for the physician's potential warning in the scenarios mentioned?

    <p>The harm being likely and serious and foreseeable.</p> Signup and view all the answers

    What was the outcome of the Safer v. Estate of Pack case regarding information sharing?

    <p>The court ruled no liability as the physician successfully maintained confidentiality.</p> Signup and view all the answers

    What might a physician do if a patient refuses to inform their family about genetic risks?

    <p>Encourage the patient to reconsider and discuss the importance of disclosure.</p> Signup and view all the answers

    What role do identifiable relatives play in the decision to inform family members about genetic risks?

    <p>Their identification is necessary for the physician to act on genetic information.</p> Signup and view all the answers

    Which of the following is NOT a circumstance under which a physician should disclose information about genetic risks?

    <p>The disease is non-preventable and untreatable.</p> Signup and view all the answers

    Study Notes

    Genetic Counseling

    • Educational counseling provided to individuals and families who have a genetic disease or are at risk.
    • It involves assessment, diagnosis, prognosis, treatment, and genetic inheritance.
    • The process includes family history, personal and medical history, physical examination, and laboratory tests.
    • Risk assessment, based on family history, is a key component of genetic counseling.
    • Genetic counseling considers genetic defects frequent in specific populations, presence of birth defects or genetic disorders in relatives, and delayed age of onset.
    • Penetrance and expressivity are important factors in genetic counseling, along with phenocopy and pleiotropy.
    • Genetic heterogeneity refers to the same phenotype being caused by various genetic mechanisms, including mutations in different genes and allelic heterogeneity.
    • Example: Chances of having a child with Down syndrome increase with the mother's age, with a 1 in 350 chance at age 35, a 1 in 110 chance at age 40, and a 1 in 30 chance at age 45.

    Prenatal Diagnosis and Newborn Screening

    • Prenatal diagnosis allows parents to diagnose genetic conditions in a developing fetus.
    • Techniques include amniocentesis, chorionic villi sampling (CVS), and ultrasound.
    • Newborn screening is a widespread genetic screening used to detect genetic or metabolic conditions for which early diagnosis and treatment are available.
    • It's typically conducted on newborns 24 hours after birth.
    • The goal is to identify affected newborns early for prompt treatment and care.
    • Phenylketonuria (PKU) is a common example of a genetic disease for which newborn screening is essential due to its prevalence, treatable nature with early intervention, and significant consequences without treatment (profound intellectual disability).

    Ethical Considerations in Genetic Counseling

    • Four principles of medical ethics: non-maleficence, beneficence, patient autonomy, and justice.
    • Confidentiality is a key ethical principle protected by the Health Insurance Portability and Accountability Act (HIPAA).
    • Breaching confidentiality is permitted to prevent harm to others, particularly in situations involving serious and imminent threats.
    • Genetic testing raises ethical dilemmas regarding the duty to warn family members about potential risks, balancing patient autonomy with the potential for harm to others.
    • American Medical Association (AMA) suggests physicians inform patients about the possibility of informing family members who could be at genetic risk.
    • American Society of Human Genetics (ASHG) suggests notifying family members if certain conditions are met:
      • Attempts to encourage patient disclosure have failed
      • The harm is highly likely and serious
      • The at-risk relative is identifiable
      • The disease is preventable, treatable, or early monitoring can reduce the genetic risk.
    • Pate v. Threlkel (Florida Supreme Court, 1995): Established a physician's duty to warn patients about genetically transferable conditions and to encourage patients to inform their relatives of the risk.
    • Safer v. Estate of Pack (New Jersey Supreme Court, 1996): Confirmed a physician's duty to warn patients about genetically transferable conditions despite confidentiality obligations.
    • These cases emphasize the importance of balancing patient confidentiality with the potential for harm to others.

    Key Takeaways

    • Genetic counseling is a complex process balancing ethical, legal, and medical considerations.
    • Key factors influence genetic counseling decisions, including risk assessment, family history, and available information.
    • Principles of medical ethics guide the process, particularly confidentiality, non-maleficence, and patient autonomy.
    • The duty to warn family members about genetic risks is a complex issue with legal and ethical ramifications.
    • Continuous developments in genetic testing and understanding of genetic conditions necessitate ongoing ethical reflection and legal adaptation.

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    Related Documents

    Genetic Counseling Student Version F2024 PDF

    Description

    Explore the essentials of genetic counseling in this informative quiz. Understand key concepts such as risk assessment, genetic inheritance, and the impact of familial medical history. Test your knowledge on the importance of penetrance, expressivity, and genetic heterogeneity in counseling practices.

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