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CBGC Genetic Counselling Certification (CCGC) study materials
CBGC Genetic Counselling Certification (CCGC) study resources

CBGC Genetic Counselling Certification (CCGC) practice questions

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Question 1Genetic Counselling Process and Communication

A couple asks about the chance their future child will inherit an autosomal recessive condition for which both are confirmed carriers. What recurrence risk should the counsellor quote?

  1. 75% for an affected child with each pregnancy
  2. 25% for an affected child with each pregnancy Correct answer.
  3. 0% because neither parent is affected
  4. 50% for an affected child with each pregnancy

Explanation

Two confirmed carriers of the same autosomal recessive condition face a one-in-four risk in each pregnancy of having an affected child, because only the offspring inheriting both altered alleles is affected. The 3:1 ratio describes unaffected versus affected outcomes and is independent of the parents' own health. Risk applies anew to every pregnancy and is not altered by previous outcomes.

Question 2Genetic Counselling Process and Communication

During a session a client says, "I just know I'll be dead before my daughter turns eighteen." Which counsellor response best demonstrates accurate empathy?

  1. "You should try not to think that way because it is not helpful."
  2. "It sounds as though the fear of not being there for her is weighing on you heavily." Correct answer.
  3. "Let us write down your daughter's birthday so we can calculate the timeline."
  4. "Most people with your condition live well past their children's teenage years."

Explanation

Accurate empathy names the client's underlying feeling and reflects it back without judging or prematurely reassuring. This helps the client feel heard and opens space for further exploration of the fear. Correcting or problem-solving too early tends to close down disclosure.

Question 3Genetic Counselling Process and Communication

Which statement best describes the ethical principle of nondirectiveness in genetic counselling?

  1. The counsellor supports the client's own deliberation and decision without steering toward a particular choice Correct answer.
  2. The counsellor withholds all clinical information so the client remains uninfluenced
  3. The counsellor presents only the options the counsellor considers reasonable
  4. The counsellor makes the decision for the client when the choice is complex

Explanation

Nondirectiveness means facilitating informed, autonomous decision-making while avoiding pressure toward any particular option. Providing complete, balanced information is essential to that goal rather than contrary to it. The counsellor's role is to support deliberation, not to decide for the client.

Question 4Genetic Counselling Process and Communication

A client's mother tongue is not the language of the appointment and she has limited proficiency in that language. What is the most appropriate approach?

  1. Arrange a trained medical interpreter and speak directly to the client Correct answer.
  2. Ask the client's teenage child to interpret to save time
  3. Postpone all counselling until the client learns the language
  4. Speak more slowly and loudly in the appointment language

Explanation

Trained interpreters support accurate communication and confidentiality, and the counsellor should address the client rather than the interpreter. Using relatives, especially children, risks errors, role reversal, and breaches of privacy. Speaking louder does not address comprehension.

Question 5Genetic Counselling Process and Communication

Which action best protects a client's confidentiality when a counsellor receives a request for records from an employer?

  1. Decline to release records without the client's written authorization or a legal requirement Correct answer.
  2. Release the records because employers fund health benefits
  3. Ask a colleague to send the records on the counsellor's behalf
  4. Release a summary of the records but not the full file

Explanation

Genetic information should be disclosed only with the client's informed written authorization or when law compels disclosure. An employer's request alone is not a legal basis for release. Having a colleague send records does not change the underlying authorization requirement.

Question 6Genetic Counselling Process and Communication

Before a genetic test is ordered, which element is most essential to informed consent?

  1. Assurance that results will never be shared with the client
  2. A signed waiver of all future counselling
  3. A guarantee that the result will be normal
  4. Discussion of possible results, implications for relatives, and limits of testing Correct answer.

Explanation

Informed consent for genetic testing requires discussion of the nature and purpose of the test, possible outcomes including variants of uncertain significance, and implications for family members. Consent is a process of understanding rather than a single signature. No test can be guaranteed normal.

Question 7Genetic Counselling Process and Communication

A client repeatedly interrupts and changes the subject whenever inheritance is discussed. Which counsellor technique is most appropriate first?

  1. End the session and reschedule for a later date
  2. Continue the explanation faster so it finishes before the next interruption
  3. Interpret the behaviour as disinterest and stop providing information
  4. Acknowledge the apparent discomfort and ask what feels difficult about the topic Correct answer.

Explanation

Noticing and naming resistance in a non-judgemental way invites the client to describe barriers and restores collaboration. Pushing ahead or stopping prematurely may confirm the client's discomfort and reduce engagement. The behaviour often signals anxiety rather than lack of interest.

Question 8Genetic Counselling Process and Communication

Which phrase is the clearest example of plain-language communication for a client with low health literacy?

  1. "This assay interrogates pathogenic variants conferring susceptibility."
  2. "This is a germline mutational analysis with variable penetrance."
  3. "This test looks for a change in a gene that can raise your chance of illness." Correct answer.
  4. "This is a hereditary predisposition panel with incidental findings."

Explanation

Plain language uses short, common words and explains concepts in familiar terms while preserving accuracy. Technical terms such as assay, penetrance, and incidental findings require explanation before use. Clarity supports recall and informed choice.

Question 9Genetic Counselling Process and Communication

A client with a strong family history of early-onset breast cancer asks whether genetic testing could affect her insurance. Which response is most appropriate?

  1. Refuse to discuss insurance because it is outside genetics
  2. Tell her insurance is never affected so she proceeds without worry
  3. Advise her to avoid testing so no record exists
  4. Explain relevant legal protections and any limits, then explore her concerns before testing Correct answer.

Explanation

Counsellors should provide accurate information about protective legislation and its limits, then address the client's concerns as part of informed decision-making. Falsely reassuring or discouraging testing undermines autonomy. Ignoring the question leaves a barrier to informed consent unaddressed.

Question 10Genetic Counselling Process and Communication

During a session a client discloses thoughts of self-harm. What is the counsellor's most appropriate immediate action?

  1. Continue the genetic risk discussion and revisit the disclosure next visit
  2. Ask the client to sign a statement promising not to act on the thoughts
  3. Assess risk and follow the setting's safety protocol, including emergency referral if needed Correct answer.
  4. Document the statement and take no further action that day

Explanation

Disclosure of self-harm thoughts requires prompt risk assessment and adherence to the service's safety pathway, which may include urgent referral. Safety takes precedence over completing the genetic agenda. Documentation alone without action is insufficient.

Question 11Genetic Counselling Process and Communication

A client says she feels guilty because she passed a pathogenic variant to her son. Which response best applies a supportive counselling approach?

  1. Validate the guilt and help reframe it while exploring her feelings and supports Correct answer.
  2. Explain that guilt is irrational and she should stop feeling it
  3. Remind her that many parents pass on variants so it is common
  4. Change the subject to the son's surveillance plan

Explanation

Validating the emotion and gently exploring it supports processing and reduces isolation, and reframing can help the client view transmission as beyond her control. Dismissing the guilt as irrational or minimizing it with statistics tends to increase distress. Abruptly changing the topic can feel invalidating.

Question 12Genetic Counselling Process and Communication

A counsellor notices that a client nods and says "yes" to every explanation but later cannot recall key facts. Which strategy best addresses this?

  1. Assume the client understood because she agreed at the time
  2. Provide a longer written handout with more technical detail
  3. Repeat the same explanation several times in the same words
  4. Use teach-back by asking the client to explain the information in her own words Correct answer.

Explanation

Teach-back reveals actual comprehension and allows the counsellor to correct misunderstandings in real time. Repetition without checking understanding may reinforce confusion. Longer, more technical materials can overwhelm clients with limited literacy.

Question 13Genetic Counselling Process and Communication

A client requests that her test results not be shared with her adult sister who is at risk. What is the counsellor's most appropriate approach?

  1. Share the results with the sister but omit the client's name
  2. Tell the sister directly because she is at risk
  3. Refuse to continue counselling until the client agrees to disclose
  4. Respect the client's confidentiality while encouraging, not coercing, disclosure to at-risk relatives Correct answer.

Explanation

Confidentiality belongs to the client, and counsellors should support voluntary disclosure to relatives without coercion. Disclosure to relatives without consent is generally inappropriate unless specific legal exceptions apply. Sharing de-identified details may still identify the client in a small family.

Question 14Genetic Counselling Process and Communication

Which statement about variants of uncertain significance is most accurate for counselling a client before testing?

  1. A variant of uncertain significance is the same as a benign polymorphism
  2. A variant of uncertain significance should never be disclosed to the client
  3. A result of uncertain significance may not change management and could require later reclassification Correct answer.
  4. A variant of uncertain significance always confirms a diagnosis

Explanation

Variants of uncertain significance have insufficient evidence to be classified as pathogenic or benign, so they may not guide care and can be reclassified as evidence accumulates. Clients should understand this possibility before testing. Such results are disclosed and explained rather than hidden.

Question 15Genetic Counselling Process and Communication

A client from a culture where health decisions are typically made with family input comes alone to an appointment. What is the most culturally responsive approach?

  1. Insist that she decide alone to respect individual autonomy
  2. Make the decision for her to avoid family conflict
  3. Assume she does not want family involved because she came alone
  4. Explore the client's preferences about family involvement and offer to include them if she wishes Correct answer.

Explanation

Cultural responsiveness involves asking about the client's own preferences for family involvement rather than imposing a model of individual decision-making. Offering options preserves autonomy while respecting collectivist values. Assumptions about attendance are unreliable.

Question 16Genetic Counselling Process and Communication

A counsellor is preparing a client for a result that may reveal a serious, actionable condition. Which approach best supports the client's emotional readiness?

  1. Give the result only in writing with no discussion
  2. Ask how the client would like to receive results and discuss possible reactions in advance Correct answer.
  3. Promise that the result will be good so the client stays calm
  4. Delay all preparation until the result is available

Explanation

Pre-result counselling that explores preferences, anticipated reactions, and support plans helps clients prepare emotionally and make informed choices about result delivery. Promising a good outcome is misleading. Written-only delivery without discussion may leave clients unsupported.

Question 17Genetic Counselling Process and Communication

A client asks whether her sister "has to" be tested because their mother carries a BRCA variant. What is the most appropriate response?

  1. Testing is unnecessary because family history alone is sufficient
  2. The counsellor should arrange the sister's test without her knowledge
  3. The sister is obliged to test because a variant is in the family
  4. Testing is the sister's voluntary choice and she can decide after her own counselling Correct answer.

Explanation

Genetic testing is voluntary, and each relative should make an informed decision after independent counselling. Family membership does not create an obligation to test. Arranging testing without consent violates autonomy and confidentiality.

Question 18Genetic Counselling Process and Communication

Which counselling behaviour best supports a client's informed decision about prenatal testing?

  1. Presenting the range of options neutrally and exploring the client's values and goals Correct answer.
  2. Recommending the option the counsellor would choose personally
  3. Presenting only the option of continuing the pregnancy
  4. Warning the client that certain choices are morally wrong

Explanation

Informed choice requires balanced presentation of all relevant options and exploration of the client's own values. Personal recommendations or moral warnings introduce direction and can compromise autonomous choice. Limiting options misrepresents the available choices.

Question 19Genetic Counselling Process and Communication

A client with a known pathogenic variant in a cancer predisposition gene asks what her adult daughter should do. What is the most appropriate counselling response?

  1. Advise testing only if the daughter already has symptoms
  2. Arrange predictive testing for the daughter without her involvement
  3. Explain that the daughter can seek her own counselling and decide about predictive testing as an adult Correct answer.
  4. Tell the client that the daughter should not be informed

Explanation

Adult relatives should be offered information and the opportunity for independent counselling so they can decide about predictive testing themselves. Testing without the relative's consent is inappropriate. Predictive testing is relevant to risk assessment even before symptoms appear.

Question 20Genetic Counselling Process and Communication

Which statement about the use of a family pedigree in counselling is most accurate?

  1. It replaces the need for informed consent before testing
  2. It is used only for research and has no clinical role
  3. It documents relationships and health history and guides risk assessment and testing strategy Correct answer.
  4. It should exclude unaffected relatives to simplify the diagram

Explanation

A pedigree records family structure, health conditions, and inheritance patterns that inform risk assessment and testing choices. It complements but does not replace consent discussions. Excluding unaffected relatives can obscure inheritance patterns and risk.

Question 21Genetic Counselling Process and Communication

A client becomes tearful and says, "I can't make this decision right now." What is the most appropriate counsellor response?

  1. Press the client to decide before leaving the room
  2. Interpret the tears as a sign the client is unfit to decide
  3. Make the decision on the client's behalf to relieve distress
  4. Acknowledge the distress, normalize the difficulty, and offer to pause or continue at another time Correct answer.

Explanation

Respecting autonomy includes respecting the pace of decision-making, and acknowledging distress supports the client without pressure. Forcing a decision or taking over removes choice. Tearfulness does not indicate incapacity to decide.

Question 22Genetic Counselling Process and Communication

A counsellor must explain a 1-in-4 recurrence risk to a client with limited numeracy. Which approach is most likely to be understood accurately?

  1. Describe the risk as "very small" without numbers
  2. State the fraction only and move on quickly
  3. Use visual aids such as a simple 4-part diagram alongside plain words Correct answer.
  4. Present several complex statistics at once to be thorough

Explanation

Visual representations combined with plain language help clients grasp probabilities and reduce misinterpretation. Stating a fraction alone may not convey magnitude to clients with limited numeracy. Vague descriptors such as very small are imprecise and can mislead.

Question 23Genetic Counselling Process and Communication

A client asks the counsellor, "What would you do if you were me?" Which response best balances the client's request with the principle of nondirectiveness?

  1. Tell the client the decision does not matter
  2. Refuse to discuss the decision at all
  3. Explore the client's values and concerns and explain why the counsellor avoids recommending a personal choice Correct answer.
  4. Give a direct personal recommendation so the client can rely on it

Explanation

When clients ask for direction, exploring their values and explaining the rationale for nondirectiveness respects autonomy while maintaining the relationship. A direct recommendation may shift responsibility from client to counsellor. Refusing to engage dismisses the client's need for support.

Question 24Genetic Counselling Process and Communication

During a session a client reveals that a relative's genetic result was obtained without that relative's consent. What is the counsellor's most appropriate response?

  1. Ignore the disclosure and continue as if nothing was said
  2. Use the relative's result freely because it is clinically useful
  3. Acknowledge the concern, clarify the ethical and legal issues, and avoid using improperly obtained information to direct care Correct answer.
  4. Report the client to authorities immediately without discussion

Explanation

Counsellors should address ethical and legal concerns raised by improperly obtained information and avoid relying on it to guide care without proper verification and consent. Clinical usefulness does not justify using information obtained without consent. Immediate reporting without discussion may be premature and damage trust.

Question 25Genetic Counselling Process and Communication

A client with a pathogenic variant discloses that she has not told her employer and fears discrimination. Which counselling approach best reflects the ethical and practical issues?

  1. Tell her she must disclose to her employer for safety reasons
  2. Advise her to resign to avoid any risk
  3. Tell her discrimination cannot occur because genetic information is protected everywhere
  4. Explore her concerns, explain relevant legal protections and limits, and support her choices about disclosure Correct answer.

Explanation

Counsellors should discuss legal protections and their limits, explore the client's concerns, and support her autonomous decisions about disclosure. Mandating disclosure or advising resignation imposes decisions that may not be warranted. Claiming universal protection overstates the law.

Question 26Genetic Counselling Process and Communication

Which counselling approach best describes the technique of reflecting a client's feelings back to them during a session?

  1. Summarizing the client's medical history in chronological order
  2. Recommending a specific decision the client should make
  3. Providing a detailed explanation of the genetic test being discussed
  4. Restating the emotional content you heard in the client's words Correct answer.

Explanation

Reflection involves naming the emotion the counsellor perceives in the client's statement and offering it back, which signals listening and invites the client to elaborate. It is distinct from summarizing content, giving information, or advising a course of action.

Question 27Genetic Counselling Process and Communication

A counsellor is about to discuss a client's newly returned pathogenic result. Which opening strategy best supports the client's emotional processing?

  1. Reading the laboratory report aloud verbatim before any discussion
  2. Asking what the client is expecting and how they would like to receive the news Correct answer.
  3. Deferring the result until the client brings it up themselves
  4. Delivering the result and immediately outlining all screening options

Explanation

Eliciting the client's expectations and preferred communication style before disclosing a result allows the counsellor to tailor the message and prepare the client emotionally. This approach respects autonomy and reduces shock while preserving the counsellor's obligation to disclose.

Question 28Genetic Counselling Process and Communication

A client says, "My mother had the gene, so I know exactly what my result will be." Which response best demonstrates accurate empathy and correction?

  1. Telling the client that predictions are unhelpful and should be avoided
  2. Changing the subject to the testing logistics to reduce the client's anxiety
  3. Agreeing that inheritance is certain so the client feels supported
  4. Explaining that inheriting a variant is not guaranteed and exploring the client's feelings about that uncertainty Correct answer.

Explanation

Accurate empathy acknowledges the client's belief while gently correcting the factual misconception about inheritance probability. Pairing the correction with exploration of feelings keeps the relationship intact and supports informed understanding.

Question 29Genetic Counselling Process and Communication

Which counsellor statement best demonstrates the use of an open-ended question?

  1. "Are you feeling anxious about the appointment today?"
  2. "You understand that this test is voluntary, correct?"
  3. "Did your mother test positive for the variant?"
  4. "What concerns would you like to talk through today?" Correct answer.

Explanation

Open-ended questions invite elaboration rather than a yes-or-no answer, giving the client room to raise priorities the counsellor may not anticipate. Questions beginning with what or how are typical openers that encourage narrative responses.

Question 30Genetic Counselling Process and Communication

A client keeps apologizing for crying during a session. Which counsellor response best supports the therapeutic relationship?

  1. Telling the client that emotions should be set aside to focus on facts
  2. Suggesting the client return when they feel more composed
  3. Ending the session early so the client can collect themselves
  4. Assuring the client that crying is a normal response and that there is no need to apologize Correct answer.

Explanation

Normalizing emotional expression reduces shame and signals that the counselling space is safe for difficult feelings. This supports continued disclosure and engagement rather than shutting down the client's affect.

Question 31Genetic Counselling Process and Communication

During a session, a client asks the counsellor to keep a serious result secret from the client's spouse, who is also a patient in the same clinic. What is the counsellor's most appropriate response?

  1. Agree to the request without documenting it to protect the client's trust
  2. Refuse to continue counselling the client until the spouse is informed
  3. Explain confidentiality limits and explore what the client wants to share and why Correct answer.
  4. Disclose the result to the spouse because they are also a patient

Explanation

Confidentiality belongs to the individual client, and the counsellor should clarify its scope while exploring the client's reasons and preferences for disclosure. The counsellor should not breach confidentiality simply because the spouse is also a patient, nor should they abandon the client.

Question 32Genetic Counselling Process and Communication

A client with limited literacy is given a written report summarizing their genetic result. Which supplementary approach best supports their understanding?

  1. Advising the client to have a relative read the report to them later
  2. Giving the client a second, more technical report for reference
  3. Providing a verbal explanation with teach-back to confirm comprehension Correct answer.
  4. Asking the client to sign that they have read and understood the report

Explanation

Verbal explanation paired with teach-back allows the counsellor to confirm understanding and correct misunderstandings in real time. Written materials are useful adjuncts but should not be relied on alone for clients with limited literacy.

Question 33Genetic Counselling Process and Communication

Which element is central to a client-centered counselling contract established at the start of a genetic counselling session?

  1. Confirming the counsellor's preferred agenda for the discussion
  2. Reviewing the clinic's billing policy in detail
  3. Documenting the client's family history before any introductions
  4. Agreeing on the goals the client wants to achieve in the session Correct answer.

Explanation

A counselling contract clarifies the client's goals and expectations for the session, aligning the agenda with what matters most to the client. This supports collaboration and shared decision-making from the outset.

Question 34Genetic Counselling Process and Communication

A client says, "I don't want to know my result, but my doctor insists I should." Which counsellor response best respects autonomy while addressing the pressure?

  1. Scheduling the disclosure appointment without further discussion
  2. Explaining that refusing a result is not permitted once testing has begun
  3. Exploring the client's values and clarifying that accepting or declining results is their choice Correct answer.
  4. Telling the client that the doctor knows best and testing should proceed

Explanation

Respecting autonomy means ensuring the client knows that decisions about receiving results belong to them, while helping them examine their values and any external pressure. The counsellor should not simply defer to the physician or override the client.

Question 35Genetic Counselling Process and Communication

During a family-history interview, a client becomes silent after mentioning a relative who died young. Which counsellor response is most appropriate?

  1. Recording the death in the pedigree without acknowledging the client's reaction
  2. Telling the client that discussing the death is not relevant to the pedigree
  3. Allowing a brief pause and gently inviting the client to say more if they wish Correct answer.
  4. Filling the silence quickly with the next pedigree question

Explanation

Silence can be a therapeutic tool that gives the client space to process emotion and decide whether to share more. A gentle invitation preserves the client's control while acknowledging the significance of what was said.

Question 36Genetic Counselling Process and Communication

Which counsellor behaviour best demonstrates cultural humility during a genetic counselling session?

  1. Assuming the client's family structure based on their stated ethnicity
  2. Avoiding discussion of culture to prevent discomfort
  3. Applying the same communication style to every client for consistency
  4. Asking about the client's cultural values and how decisions are made in their family Correct answer.

Explanation

Cultural humility involves curiosity about each client's values, beliefs, and decision-making context rather than relying on group assumptions. Asking directly allows the counsellor to adapt communication to the individual.

Question 37Genetic Counselling Process and Communication

A client asks the counsellor to explain the difference between a screening test and a diagnostic test. Which explanation is most accurate?

  1. Diagnostic tests are always performed before screening tests in clinical care
  2. Screening estimates risk in a population, while diagnostic testing aims to confirm or exclude a condition in an individual Correct answer.
  3. Screening tests confirm a diagnosis, while diagnostic tests only estimate probability
  4. Screening and diagnostic tests are interchangeable terms for the same laboratory process

Explanation

Screening tests estimate the likelihood of a condition in a defined population and typically require diagnostic confirmation, whereas diagnostic tests are intended to establish or exclude a specific condition in an individual. Confusing these roles can distort a client's expectations about results.

Question 38Genetic Counselling Process and Communication

A client states, "Whatever you think is best, I'll just do that." Which response best supports the client's autonomous decision-making?

  1. Acknowledging the client's wish for guidance while exploring their own values and preferences Correct answer.
  2. Explaining that the counsellor cannot help and ending the discussion
  3. Making the decision on the client's behalf to reduce their anxiety
  4. Choosing the option the counsellor believes is medically optimal

Explanation

When a client defers entirely, the counsellor can acknowledge the request for guidance while helping the client identify their own values and priorities. This preserves autonomy without abandoning the client to an unsupported choice.

Question 39Genetic Counselling Process and Communication

Which documentation practice best reflects professional standards after a genetic counselling session?

  1. Including the counsellor's personal opinions about the client's choices
  2. Omitting the client's questions to keep the record brief
  3. Recording only the test ordered and omitting the discussion
  4. Writing a factual summary of topics discussed, decisions made, and follow-up plans Correct answer.

Explanation

Session notes should capture the substance of the discussion, the client's decisions, and any agreed follow-up in an objective and factual manner. This supports continuity of care and provides a defensible record of the counselling process.

Question 40Genetic Counselling Process and Communication

A client's relative contacts the counsellor directly asking for the client's test results. Which action is most appropriate?

  1. Asking the relative to provide a family history before deciding
  2. Declining to confirm any information and explaining that results cannot be shared without the client's authorization Correct answer.
  3. Sharing the results because the relative may be at risk
  4. Confirming only whether the client tested positive or negative

Explanation

Genetic test results are confidential to the client, and the counsellor should not confirm or disclose them to relatives without the client's authorization. The counsellor can explain confidentiality and, if appropriate, discuss how the client might choose to share information.

Question 41Clinical Genetics and Risk Assessment

A couple is consanguineous (first cousins). Which statement best describes the expected effect on their offspring?

  1. There is a reduced risk of X-linked conditions because of allele mixing
  2. There is no change in risk because consanguinity only affects mitochondrial DNA
  3. There is an increased risk of autosomal recessive conditions because of shared ancestral alleles Correct answer.
  4. There is an increased risk of autosomal dominant conditions because of new mutations

Explanation

Consanguineous couples share a common ancestor, so they are more likely to carry the same recessive pathogenic variant. This raises the chance that offspring inherit two copies of the variant and develop an autosomal recessive condition. The effect is on homozygosity of shared ancestral alleles, not on new dominant mutations.

Question 42Clinical Genetics and Risk Assessment

A 45-year-old woman has a mother with breast cancer at age 40 and a maternal aunt with ovarian cancer at age 52. Which feature most strongly raises suspicion of a hereditary cancer syndrome?

  1. The fact that the cancers occurred in two different organs
  2. The early age at diagnosis and the multiple affected relatives in one lineage Correct answer.
  3. The maternal rather than paternal side of the family
  4. The absence of cancer in the woman herself

Explanation

Hereditary cancer syndromes are suspected when cancers occur at unusually young ages and cluster in multiple relatives within the same lineage. Early onset and multi-generational clustering suggest a shared inherited pathogenic variant. Cancer type diversity alone or the side of the family does not by itself establish heritability.

Question 43Clinical Genetics and Risk Assessment

In autosomal dominant inheritance with complete penetrance, what is the recurrence risk for each child of an affected heterozygous parent?

  1. 75%
  2. 100%
  3. 50% Correct answer.
  4. 25%

Explanation

An affected heterozygote has one pathogenic and one normal allele, so each child has a 50% chance of inheriting the pathogenic allele. With complete penetrance, inheriting the allele leads to the condition. The 25% figure applies to autosomal recessive carrier couples, not dominant inheritance.

Question 44Clinical Genetics and Risk Assessment

A woman is a known carrier of an X-linked recessive condition. What is the probability that each of her sons is affected?

  1. 25%
  2. 100%
  3. 50% Correct answer.
  4. 0%

Explanation

A carrier mother has one pathogenic and one normal X chromosome. Each son inherits one of her X chromosomes with equal probability, so 50% of sons inherit the pathogenic allele and are affected. Daughters have a 50% chance of being carriers but are usually unaffected.

Question 45Clinical Genetics and Risk Assessment

Which finding in a family history most supports a diagnosis of Li-Fraumeni syndrome?

  1. Two siblings with the same congenital heart defect
  2. A single case of colorectal cancer at age 70
  3. Multiple early-onset cancers including sarcoma and breast cancer across relatives Correct answer.
  4. A family history limited to type 2 diabetes

Explanation

Li-Fraumeni syndrome is characterized by a wide spectrum of early-onset cancers, classically sarcomas, breast cancer, brain tumors, and adrenocortical carcinoma, often across multiple generations. The combination of sarcoma and early breast cancer in relatives is a classic clue. Single late-onset cancers or non-malignant conditions do not fit this pattern.

Question 46Clinical Genetics and Risk Assessment

A couple asks about the chance their child will be affected if both parents are carriers of the same autosomal recessive condition. What should the counselor state?

  1. One in two for each pregnancy, because both parents are carriers
  2. It depends only on the sex of the child
  3. Zero, because carrier parents are unaffected
  4. One in four for each pregnancy, independent of previous outcomes Correct answer.

Explanation

Two carriers each have one pathogenic and one normal allele, giving each child a 25% chance of inheriting two pathogenic alleles. This risk applies independently to each pregnancy regardless of prior children. Carrier status does not prevent transmission, and autosomal recessive risk is not sex-dependent.

Question 47Clinical Genetics and Risk Assessment

Which of the following best describes the purpose of a pedigree in genetic counseling?

  1. To document family relationships and health history to assess inheritance patterns and risk Correct answer.
  2. To predict a person's future health with certainty
  3. To determine the exact molecular diagnosis without testing
  4. To replace the need for informed consent before genetic testing

Explanation

A pedigree is a structured record of family relationships and medical history used to identify inheritance patterns and estimate risk. It guides testing strategies and counseling but does not by itself establish a molecular diagnosis. It also does not replace consent or provide certainty about future health.

Question 48Clinical Genetics and Risk Assessment

A patient with a strong family history of early-onset Alzheimer disease asks about genetic testing. Which statement is most accurate?

  1. Early-onset familial Alzheimer disease can be caused by pathogenic variants in genes such as APP, PSEN1, and PSEN2 Correct answer.
  2. Testing is only useful after symptoms begin
  3. Alzheimer disease has no genetic contribution
  4. APOE genotyping is diagnostic and should be offered to all relatives

Explanation

Early-onset familial Alzheimer disease is associated with rare pathogenic variants in APP, PSEN1, and PSEN2, which are highly penetrant. APOE is a risk factor rather than a diagnostic test. Genetic contribution exists, and predictive testing can be considered before symptoms in informed families.

Question 49Clinical Genetics and Risk Assessment

A 30-year-old man has a father with Huntington disease. What does a predictive genetic test result of an expanded CAG repeat indicate?

  1. He is a carrier who will never develop symptoms
  2. He will develop the condition with high probability, though age of onset varies Correct answer.
  3. He should be tested again because expansion results are never reliable
  4. The result is uninformative because Huntington disease is not genetic

Explanation

Huntington disease is autosomal dominant, and an expanded CAG repeat in HTT is highly predictive of developing the condition. Onset age varies and cannot be precisely predicted from repeat length alone. The result is not a carrier state, since carriers of a dominant pathogenic expansion are expected to be affected.

Question 50Clinical Genetics and Risk Assessment

A woman of Ashkenazi Jewish ancestry is found to carry a BRCA1 pathogenic variant. Her sister tests negative. What is the most appropriate interpretation of the sister's result?

  1. She did not inherit the familial BRCA1 variant and has population-level risk Correct answer.
  2. She must have a different BRCA variant that was not tested
  3. She has the same elevated cancer risk as her sister
  4. Her negative result is invalid because sisters always share variants

Explanation

When a familial pathogenic variant is known, a negative test in a relative usually means she did not inherit that variant and her risk reverts toward the general population level. This is a true negative in the context of familial testing. She does not automatically share the same variant, and the result is valid.