Genetic testing ethics US Medical PG Practice Questions and MCQs
Practice US Medical PG questions for Genetic testing ethics. These multiple choice questions (MCQs) cover important concepts and help you prepare for your exams.
Genetic testing ethics US Medical PG Question 1: A 28-year-old woman comes to the physician for genetic counseling prior to conception. For the past year, she has had intermittent episodes of headache, nausea, abdominal pain, and tingling of her fingers. She also complains of dark urine during the episodes. Her mother and maternal uncle have similar symptoms and her father is healthy. Her husband is healthy and there is no history of serious illness in his family. Serum studies show elevated concentrations of porphobilinogen and δ-aminolevulinic acid. What is the probability of this patient having a child with the same disease as her?
- A. 25%
- B. 67%
- C. 50% (Correct Answer)
- D. 100%
Genetic testing ethics Explanation: ***50%***
- This patient's symptoms (headache, nausea, abdominal pain, tingling, dark urine) and elevated **porphobilinogen** and **δ-aminolevulinic acid** are highly suggestive of **Acute Intermittent Porphyria** (AIP).
- AIP is an **autosomal dominant** disorder. Therefore, there is a **50% chance** that any child of an affected parent will inherit the disease-causing allele.
- Since her husband is healthy with no family history, he does not carry the mutation, making this a straightforward autosomal dominant inheritance calculation.
*25%*
- This probability would be expected in an **autosomal recessive** inheritance pattern when two carrier parents have a child, which is not the case here.
- It would also be the probability for an X-linked recessive disorder if the mother is a carrier and the father is unaffected, and they are discussing a son's inheritance.
- The clinical presentation and family history (mother and maternal uncle affected, consistent with autosomal dominant pattern) rule out this probability.
*67%*
- This probability is seen in specific genetic scenarios, such as the chance of a phenotypically normal sibling of an individual with an autosomal recessive disease being a carrier.
- It's not a standard probability for direct offspring of an affected individual with an autosomal dominant condition.
- This does not apply to the straightforward inheritance question being asked here.
*100%*
- This probability would occur if the disease were inherited in an **autosomal dominant** manner and the affected parent was **homozygous dominant** for the mutation.
- However, this is extremely rare in AIP, as most affected individuals are **heterozygous**.
- The family history pattern (affected mother with unaffected father having an affected child) is consistent with heterozygosity, not homozygosity.
Genetic testing ethics US Medical PG Question 2: A healthy 30-year-old woman comes to the physician with her husband for preconception counseling. Her husband is healthy but she is concerned because her brother was recently diagnosed with a genetic liver condition for which he takes penicillamine. Her father-in-law has liver cirrhosis and a tremor. The results of genetic testing show that both the patient and her husband are carriers of a mutation in the ATP7B gene. Which of the following is the chance that this patient’s offspring will eventually develop the hereditary condition?
- A. 0%
- B. 25% (Correct Answer)
- C. 100%
- D. 50%
- E. 75%
Genetic testing ethics Explanation: ***25%***
- The familial history (brother with a genetic liver condition, father-in-law with cirrhosis and tremor) and the **ATP7B gene mutation** indicate **Wilson's disease**, which is typically inherited in an **autosomal recessive** pattern.
- If both parents are carriers (heterozygous for the mutation), the probability that their offspring will inherit two copies of the mutated gene (one from each parent) and, therefore, develop the condition is **25%** as per Mendelian inheritance.
*0%*
- This is incorrect because both parents are identified as carriers, meaning there is a definite risk of passing on the mutated genes to their offspring.
- For the risk to be 0%, at least one parent would need to be completely free of the mutation or the inheritance pattern would need to be dominant with no penetrance.
*100%*
- This would only be the case if both parents had the disease (were homozygous for the mutation) or if the condition were dominant and at least one parent had the disease and passed on the dominant allele.
- Since both are carriers, the chance of inheriting two mutated alleles is not 100%.
*50%*
- A 50% chance would apply if one parent had the disease (homozygous recessive) and the other was a carrier, or if it were an autosomal dominant condition with one affected heterozygous parent.
- This does not reflect the inheritance pattern for two carrier parents in an autosomal recessive condition.
*75%*
- A 75% chance is not typical for a single genetic outcome in standard Mendelian inheritance patterns from carrier parents.
- In the context of two carriers for an autosomal recessive trait, 75% represents the chance of the offspring either being a carrier (50%) or being completely unaffected (25%), but not the chance of developing the condition.
Genetic testing ethics US Medical PG Question 3: A 32-year-old man visits his primary care physician for a routine health maintenance examination. During the examination, he expresses concerns about not wanting to become a father. He has been sexually active and monogamous with his wife for the past 5 years, and they inconsistently use condoms for contraception. He tells the physician that he would like to undergo vasectomy. His wife is also a patient under the care of the physician and during her last appointment, she expressed concerns over being prescribed any drugs that could affect her fertility because she would like to conceive soon. Which of the following is the most appropriate action by the physician regarding this patient's wish to undergo vasectomy?
- A. Explain the procedure's benefits, alternatives, and potential complications (Correct Answer)
- B. Refer the patient to a psychotherapist to discuss his reluctance to have children
- C. Discourage the patient from undergoing the procedure because his wife wants children
- D. Insist that the patient returns with his wife to discuss the risks and benefits of the procedure together
- E. Call the patient's wife to obtain her consent for the procedure
Genetic testing ethics Explanation: ***Explain the procedure's benefits, alternatives, and potential complications***
- The physician's primary ethical obligation is to the individual patient, ensuring informed consent for any medical procedure. Providing comprehensive information about **vasectomy benefits, alternatives, and risks** allows the patient to make an autonomous decision.
- While patient-physician confidentiality generally prohibits disclosing specific details of one spouse's medical history to the other, the general knowledge that his wife desires children creates an important backdrop for the discussion. It is the patient's responsibility to consider this and convey this information to his wife.
*Refer the patient to a psychotherapist to discuss his reluctance to have children*
- It is **not appropriate** to assume the patient has a psychological issue solely based on his desire for a vasectomy, even with his wife's conflicting wishes. This action could be seen as judgmental and dismissive of the patient's autonomy.
- A patient's preference for sterilization, even if contrary to a partner's desires, does not inherently indicate a need for psychiatric evaluation unless there are other concerning psychological symptoms.
*Discourage the patient from undergoing the procedure because his wife wants children*
- **Discouraging** the patient based on his wife's wishes infringes upon the patient's **autonomy and reproductive rights**. The physician's role is to provide information and support the patient's informed decisions, not to act as a relationship counselor or impose personal values.
- Medical decisions, especially concerning fertility, are deeply personal, and a physician should not pressure a patient into a decision they do not want based on a partner's separate, yet relevant, wishes.
*Insist that the patient returns with his wife to discuss the risks and benefits of the procedure together*
- While open communication between spouses about reproductive decisions is beneficial, **insisting** on the wife's presence for the consultation undermines the patient's **confidentiality and individual autonomy**. The patient has the right to make medical decisions independently.
- The physician should encourage the patient to discuss this with his wife, but it is ultimately the patient's decision whether to involve her in the consultation for his procedure.
*Call the patient's wife to obtain her consent for the procedure*
- This action would be a **breach of patient confidentiality**. The physician cannot disclose information about the patient's decision or medical discussions with a third party, even a spouse, without the patient's explicit consent.
- A spouse's consent is **not legally or ethically required** for an individual to undergo a vasectomy in most jurisdictions, as it is a decision pertaining to the individual's body and reproductive rights.
Genetic testing ethics US Medical PG Question 4: A 46-year-old man presents with increasing fatigue and weakness for the past 3 months. He works as a lawyer and is handling a complicated criminal case which is very stressful, and he attributes his fatigue to his work. He lost 2.3 kg (5.0 lb) during this time despite no change in diet or activity level. His past history is significant for chronic constipation and infrequent episodes of bloody stools. Family history is significant for his father and paternal uncle who died of colon cancer and who were both known to possess a genetic mutation for the disease. He has never had a colonoscopy or had any genetic testing performed. Physical examination is significant for conjunctival pallor. A colonoscopy is performed and reveals few adenomatous polyps. Histopathologic examination shows high-grade dysplasia and genetic testing reveals the same mutation as his father and uncle. The patient is concerned about his 20-year-old son. Which of the following is the most appropriate advice regarding this patient's son?
- A. The son doesn't need to be tested now.
- B. An immediate colonoscopy should be ordered for the son.
- C. Screening can be started by 50 years of age as the son’s risk is similar to the general population.
- D. The son should undergo a prophylactic colonic resection.
- E. A genetic test followed by colonoscopy for the son should be ordered. (Correct Answer)
Genetic testing ethics Explanation: ***A genetic test followed by colonoscopy for the son should be ordered.***
- Given the patient's strong family history of **colon cancer** with a known genetic mutation and the patient's own diagnosis of **high-grade dysplasia** and the same mutation, his son is at a significantly increased risk.
- **Genetic testing** will determine if the son has inherited the mutation, and if positive, early and regular **colonoscopic surveillance** is crucial due to the highly aggressive nature of familial colon cancer syndromes.
*The son doesn't need to be tested now.*
- This statement is incorrect because the son is at a very high risk of inheriting a **known pathogenic genetic mutation** that predisposes to colon cancer.
- Delaying testing could lead to a delayed diagnosis of potentially cancerous or pre-cancerous lesions, missing the opportunity for **early intervention**.
*An immediate colonoscopy should be ordered for the son.*
- While a colonoscopy may be warranted, the initial step should be **genetic testing** to confirm the presence of the mutation.
- If the genetic test is negative, the urgency and frequency of colonoscopies would be different, potentially aligning with general population guidelines or slightly earlier, but not necessarily immediately at age 20 without genetic confirmation.
*Screening can be started by 50 years of age as the son’s risk is similar to the general population.*
- This advice is dangerously incorrect, as the son's risk is *not* similar to the general population due to a strong and **documented family history** of colon cancer with a **known genetic mutation**.
- Waiting until 50 years of age would likely result in delayed detection of advanced adenomas or even cancer, as familial syndromes typically present at a much **younger age**.
*The son should undergo a prophylactic colonic resection.*
- **Prophylactic colonic resection** is a major surgical procedure and is typically reserved for individuals with established diagnoses of certain high-risk syndromes, such as **Familial Adenomatous Polyposis (FAP)**, often after they have developed numerous polyps.
- This decision should only be made after **genetic confirmation** of the mutation, thorough evaluation of polyp burden, and shared decision-making with the patient and multidisciplinary team, and not as an initial step.
Genetic testing ethics US Medical PG Question 5: A 3-year-old is brought to the pediatrician by his mother because she is concerned about recent changes to his behavior. She states that he has seemed to regress in his motor development and has been having occasional brief episodes of uncontrollable shaking. During the subsequent work up, a muscle biopsy is obtained which demonstrates red ragged fibers and a presumptive diagnosis of a genetic disease made. The mother asks if her other son will be affected. What should be the physician's response?
- A. There is a 50% chance he will be affected
- B. There is a 100% chance he will be affected, and the severity will be the same
- C. There is a 25% chance he will be affected
- D. There is a 100% chance he will be affected, but the severity may be different (Correct Answer)
- E. He will be unaffected
Genetic testing ethics Explanation: ***There is a 100% chance he will be affected, but the severity may be different***
- The patient's symptoms (motor regression, seizures, red ragged fibers on muscle biopsy) are classic for a **mitochondrial disorder**, which are inherited via **maternal inheritance**.
- All children of an affected mother will inherit the affected mitochondria; however, the **heteroplasmy** (proportion of mutated mitochondria inherited) can vary, leading to different disease severities.
*There is a 50% chance he will be affected*
- This inheritance pattern is typical for **autosomal dominant** disorders, or occasionally X-linked disorders in males.
- Mitochondrial disorders do not follow autosomal dominant inheritance, as they are exclusively inherited from the mother.
*There is a 100% chance he will be affected, and the severity will be the same*
- While there is a 100% chance of inheriting the mutated mitochondria from an affected mother, the **phenotypic expression and severity can vary widely** due to heteroplasmy.
- The proportion of mutated mitochondria can differ in various tissues and between offspring, leading to variable clinical manifestations.
*There is a 25% chance he will be affected*
- This represents the risk of inheritance for an **autosomal recessive** disorder when both parents are carriers.
- Mitochondrial inheritance does not follow an autosomal recessive pattern.
*He will be unaffected*
- This would only be true if the mother's mitochondrial DNA were not affected or if the inheritance pattern allowed for some children to be completely spared, which is not the case for mitochondrial disorders.
- Since the mother is the carrier of the mitochondrial mutation, all her children will inherit the mutated mitochondria.
Genetic testing ethics US Medical PG Question 6: A 13-year-old boy is brought to the emergency department after being involved in a motor vehicle accident in which he was a restrained passenger. He is confused and appears anxious. His pulse is 131/min, respirations are 29/min, and blood pressure is 95/49 mm Hg. Physical examination shows ecchymosis over the upper abdomen, with tenderness to palpation over the left upper quadrant. There is no guarding or rigidity. Abdominal ultrasound shows free intraperitoneal fluid and a splenic rupture. Intravenous fluids and vasopressors are administered. A blood transfusion and exploratory laparotomy are scheduled. The patient's mother arrives and insists that her son should not receive a blood transfusion because he is a Jehovah's Witness. The physician proceeds with the blood transfusion regardless of the mother's wishes. The physician's behavior is an example of which of the following principles of medical ethics?
- A. Autonomy
- B. Nonmaleficence
- C. Informed consent
- D. Justice
- E. Beneficence (Correct Answer)
Genetic testing ethics Explanation: ***Beneficence***
- The physician prioritized the patient's immediate survival and well-being, which is the core principle of **beneficence** (acting in the best interest of the patient).
- In cases of life-threatening emergencies, especially with minors, the duty to preserve life often outweighs other considerations like parental wishes, particularly when the patient lacks the capacity for **informed refusal**.
*Autonomy*
- The physician’s action directly overrides the mother's wishes, which would be an infringement of surrogate autonomy for a minor.
- While patient autonomy is a fundamental principle, it was superseded by the immediate need to save the patient's life.
*Nonmaleficence*
- **Nonmaleficence** means "do no harm." While transfusions have risks, refusing one in this critical situation would cause more harm (death) than performing it.
- The physician acted to prevent immediate harm (death from hemorrhage), even if it meant overriding a family's wishes regarding the specific treatment method.
*Informed consent*
- **Informed consent** requires obtaining permission from a capacitated patient (or legal guardian for a minor) after explaining the risks and benefits of a treatment.
- In this emergency scenario, the patient is a minor and incapacitated, and the urgent need for a life-saving intervention (blood transfusion for a splenic rupture) did not allow for full informed consent or negotiation with the mother, who was refusing a life-saving measure.
*Justice*
- **Justice** refers to the fair and equitable distribution of healthcare resources and equal treatment, which is not the primary ethical concern in this personal patient-physician interaction.
- The scenario focuses on the individual patient's treatment decision, not broader societal resource allocation or fairness in access to care.
Genetic testing ethics US Medical PG Question 7: A psychiatrist receives a call from a patient who expresses thoughts of harming his ex-girlfriend. The patient describes a detailed plan to attack her at her workplace. Which of the following represents the psychiatrist's most appropriate legal obligation?
- A. Warn the ex-girlfriend and notify law enforcement (Correct Answer)
- B. Only notify the patient's family
- C. Warn only law enforcement
- D. Maintain patient confidentiality
Genetic testing ethics Explanation: ***Warn the ex-girlfriend and notify law enforcement***
- This scenario directly triggers the **"duty to warn"** and **"duty to protect"** principles, primarily stemming from the **Tarasoff v. Regents of the University of California** case.
- The psychiatrist has a legal obligation to take reasonable steps to protect the identifiable victim, which includes directly warning the intended victim and informing law enforcement.
*Only notify the patient's family*
- Notifying the patient's family alone does not fulfill the **legal obligation to protect** an identifiable third party from a serious threat of harm.
- While family involvement might be part of a comprehensive safety plan, it is insufficient as the sole action in this critical situation.
*Warn only law enforcement*
- While notifying law enforcement is a crucial step, the **Tarasoff duty** specifically mandates warning the **intended victim** directly (or those who can reasonably be expected to notify the victim).
- Relying solely on law enforcement might not ensure the immediate safety of the ex-girlfriend, especially if there's a delay in their response or ability to locate her.
*Maintain patient confidentiality*
- Patient confidentiality is a cornerstone of psychiatric practice, but it is **not absolute** when there is a serious and imminent threat of harm to an identifiable individual.
- The **duty to protect** a potential victim *outweighs* the duty to maintain confidentiality in such extreme circumstances.
Genetic testing ethics US Medical PG Question 8: A 73-year-old man is admitted to the hospital for jaundice and weight loss. He is an immigrant from the Dominican Republic and speaks little English. A CT scan is performed showing a large mass at the head of the pancreas. When you enter the room to discuss these results with the patient, his daughter and son ask to speak with you outside of the patient's room. They express their desire to keep these results from their father. What is the appropriate response in this situation?
- A. Consult the hospital ethics committee
- B. Deliver the information in Spanish
- C. Respect the children's wishes to hold prognosis information
- D. Tell the children that you are obligated to tell the father
- E. Explore the reasoning behind the children's request (Correct Answer)
Genetic testing ethics Explanation: ***Explore the reasoning behind the children's request***
- Understanding the family's cultural background, including beliefs about illness and communication, is crucial for navigating this sensitive situation.
- This approach allows the healthcare provider to assess whether the family's request stems from a protective desire rooted in their culture or a misunderstanding, which can inform the next steps.
*Consult the hospital ethics committee*
- While an ethics consultation may be necessary if an impasse is reached, it is not the immediate first step.
- Initial direct communication and exploration with the family are preferable to first understand the context before escalating to an ethics committee.
*Deliver the information in Spanish*
- This addresses the language barrier but does not resolve the ethical dilemma of withholding information from the patient at the family's request.
- Providing the information in Spanish without first understanding the family's wishes might violate their cultural norms or inadvertently cause distress.
*Respect the children's wishes to hold prognosis information*
- Respecting the children's wishes without understanding their rationale could violate the patient's right to **autonomy** and **informed consent**.
- In most Western medical ethics frameworks, the patient has the primary right to receive information about their health, even if it is distressing.
*Tell the children that you are obligated to tell the father*
- Immediately stating an obligation without understanding the family's perspective can come across as abrupt and culturally insensitive.
- This approach might create an adversarial dynamic, making it harder to build trust and find a mutually agreeable solution.
Genetic testing ethics US Medical PG Question 9: A 12-year-old boy and his mother are brought to the emergency department after a motor vehicle accident. The boy was an unrestrained passenger in a head-on collision and was ejected from the front seat. The patient's mother was the driver and she is currently being resuscitated. Neither the child nor the mother are conscious; however, it is documented that the family are all Jehovah's witnesses and would not want a transfusion in an acute situation. The husband/father arrives to the trauma bay and confirms this wish that everyone in the family would not want a transfusion in accordance with their beliefs. The father is confirmed as the official healthcare proxy. Which of the following is the best next step in management?
- A. Consult the hospital ethics committee
- B. Do not transfuse the boy or the mother
- C. Do not transfuse the mother and transfuse the boy (Correct Answer)
- D. Do not transfuse the boy and transfuse the mother
- E. Transfuse the boy and mother
Genetic testing ethics Explanation: ***Do not transfuse the mother and transfuse the boy***
- While the **mother's wishes** for no transfusion must be respected, the boy's status as a **minor** (12 years old) allows for medical intervention to save his life, particularly in an emergency.
- In situations where a parent's religious beliefs conflict with a minor's best interest for life-saving treatment, the **state's interest in protecting children** often overrides parental autonomy.
*Consult the hospital ethics committee*
- While an ethics consultation may be appropriate in non-emergent or complex cases, in an **acute, life-threatening emergency** for a minor, delaying treatment to consult an ethics committee could be detrimental.
- The immediate priority is to provide **life-saving treatment** to the minor.
*Do not transfuse the boy or the mother*
- Refusing transfusion for the mother is consistent with her advance directives and the father's confirmed wishes, respecting her **autonomy**.
- However, refusing transfusion for the minor boy, given his age and the life-threatening situation, would prioritize parental religious beliefs over the **child's right to life-saving care**.
*Do not transfuse the boy and transfuse the mother*
- This option incorrectly applies the principles of autonomy and best interest. The mother, as an adult, has the right to refuse care, but the **minor child's right to life-saving treatment** generally takes precedence over parental refusal in emergencies.
- Transfusing the mother against her stated wishes and confirmed by her healthcare proxy would be a violation of her **autonomy**.
*Transfuse the boy and mother*
- Transfusing the boy is generally appropriate given his minor status and life-threatening condition in an emergency.
- However, transfusing the mother against her documented wishes and the confirmed consent of her healthcare proxy would be a **violation of her autonomy and right to refuse medical treatment**.
Genetic testing ethics US Medical PG Question 10: A 26-year-old man comes to the emergency department because of a 1-week history of fever, throat pain, and difficulty swallowing. Head and neck examination shows an erythematous pharynx with purulent exudates overlying the palatine tonsils. Microscopic examination of a throat culture shows pink, spherical bacteria arranged in chains. Treatment with amoxicillin is initiated. A day later, a physician colleague from another department approaches the physician in the lobby of the hospital and asks about this patient, saying, "Did you see him? What does he have? He's someone I play football with and he hasn't come to play for the past 5 days. I'm worried about him." Which of the following is the most appropriate action by the physician?
- A. Inform the colleague that they should ask the patient's attending physician
- B. Inform the colleague that they cannot divulge any information about the patient (Correct Answer)
- C. Tell the colleague the patient's case file number so they can look it up themselves
- D. Tell the colleague that they cannot tell them the diagnosis but that their friend was treated with antibiotics
- E. Ask the colleague to meet in the office so they can discuss the patient in private
Genetic testing ethics Explanation: ***Inform the colleague that they cannot divulge any information about the patient***
- The **Health Insurance Portability and Accountability Act (HIPAA)** strictly prohibits the disclosure of a patient's **Protected Health Information (PHI)** without their explicit consent.
- Even if the inquirer knows the patient, a physician-patient relationship creates a **duty of confidentiality** that supersedes personal acquaintance.
- Disclosing any information without patient consent, even to another physician, violates HIPAA regulations.
*Tell the colleague the patient's case file number so they can look it up themselves*
- Providing the case file number would enable unauthorized access to the patient's medical records, thereby violating **patient confidentiality** and **HIPAA regulations**.
- This action does not rectify the breach of confidentiality and escalates the potential for further misuse of PHI.
*Inform the colleague that they should ask the patient's attending physician*
- Recommending that the colleague ask the attending physician shifts the burden but does not address the underlying ethical and legal obligation of the current physician to maintain **confidentiality**.
- The attending physician would also be bound by **HIPAA** and ethical guidelines not to disclose information without consent.
*Tell the colleague that they cannot tell them the diagnosis but that their friend was treated with antibiotics*
- While seemingly less specific, stating that the friend was treated with **antibiotics** is still a disclosure of **Protected Health Information (PHI)**.
- This action violates **patient confidentiality** as it reveals a detail of the patient's medical management without consent.
*Ask the colleague to meet in the office so they can discuss the patient in private*
- Moving to a private setting does not negate the fact that discussing the patient's information with an unauthorized individual is a **breach of confidentiality**.
- The location of the conversation does not change the ethical and legal obligations to protect **PHI**.
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