OET Rx - Lesson 25: Providing Genetic Counseling
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OET Rx

Lesson 25: Providing Genetic Counseling

Course Progress: Lesson 25 of 100

In this lesson, you will be able to:

  • Explain basic genetic concepts, such as inheritance patterns and probability, in layman's terms.
  • Conduct a non-directive counseling session, presenting options without influencing the patient's decision.
  • Discuss the implications of genetic testing, including the potential psychological and family impact.
  • Support patients in making informed decisions that align with their personal values.

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Part 1: Lesson Objectives

By the end of this lesson, you will be able to:

  • Explain basic genetic concepts, such as inheritance patterns and probability, in layman's terms.
  • Conduct a non-directive counseling session, presenting options without influencing the patient's decision.
  • Discuss the implications of genetic testing, including the potential psychological and family impact.
  • Support patients in making informed decisions that align with their personal values.

Part 2: Vocabulary & Examples

General Vocabulary

manner /ˈmænər/:

نحوه، روش

It is essential to discuss these sensitive topics in a calm and supportive manner, ensuring the couple does not feel pressured.

map (v.) /mæp/:

ترسیم کردن، مشخص کردن

Scientists can now map an individual's entire genome to identify mutations linked to certain diseases.

mark (v.) /mɑːk/:

مشخص کردن

This genetic test can mark you as a carrier, which has implications for your future children but not for your own health.

match /mætʃ/:

مطابقت داشتن

For an organ transplant to be successful, the donor's and recipient's genetic markers must be a close match.

material (genetic) /məˈtɪəriəl/:

ماده

Amniocentesis is a procedure to test the genetic material of an unborn baby.

mathematics /ˌmæθəˈmætɪks/:

ریاضیات

The mathematics of genetic probability can be complex, so I will use a diagram to explain your chances.

matter (n.) /ˈmætər/:

موضوع، مسئله

This is a deeply personal matter, and the decision of whether or not to proceed with testing is entirely yours.

maximum /ˈmæksɪməm/:

حداکثر

Our goal is to give you the maximum amount of information so you can make a truly informed choice.

may /meɪ/:

ممکن است

If both parents are carriers, a child may inherit the condition; the probability is one in four for each pregnancy.

mean (v.) /miːn/:

معنی دادن

Let me explain exactly what it would mean for you if this genetic test comes back positive.

meaning /ˈmiːnɪŋ/:

معنی، مفهوم

It's important that you understand the meaning of being a "carrier" of a genetic trait.

means /miːnz/:

راه، وسیله

Prenatal testing is a means by which we can determine the genetic health of a fetus.

meanwhile /ˈmiːnwaɪl/:

در این حین

The test results will take several weeks; meanwhile, we can connect you with a support group.

measure (n.) /ˈmeʒər/:

اقدام

Genetic screening is a preventative measure for couples with a known family history of a disorder.

medical /ˈmedɪkl/:

پزشکی

This genetic finding has medical implications, not just for you, but potentially for other family members as well.

medicine /ˈmedsən/:

پزشکی، دارو

The field of personalized medicine uses your genetic information to tailor treatments.

member /ˈmembər/:

عضو

Since a family member is affected, you have a higher chance of being a carrier.

memory /ˈmeməri/:

حافظه، خاطره

Can you rely on your memory of your family history, or should we try to obtain your relatives' medical records?

mental /ˈmentl/:

روحی، روانی

The decision to undergo genetic testing can have a significant mental and emotional impact.

mention /ˈmenʃn/:

اشاره کردن، ذکر کردن

Did your mother ever mention any other relatives who were affected by this condition?

Medical Vocabulary

Autosomal Recessive /ˌɔːtəˈsoʊməl rɪˈsesɪv/:

اتوزومال مغلوب

Cystic fibrosis is an autosomal recessive disorder, which means a child must inherit one faulty gene from each parent to be affected.

Carrier /ˈkæriər/:

حامل، ناقل

If the test shows you are a carrier, it has no impact on your own health, but it is important for family planning.

Chromosome /ˈkroʊməsoʊm/:

کروموزوم

Down syndrome is caused by having an extra copy of chromosome 21.

Gene /dʒiːn/:

ژن

We are testing for a specific mutation in the CFTR gene.

Genetic Counseling /dʒəˈnetɪk ˈkaʊnsəlɪŋ/:

مشاوره ژنتیک

Genetic counseling aims to provide you with information and support, not to tell you what to do.

Hereditary / Inherited /həˈredɪtəri/ /ɪnˈherɪtɪd/:

ارثی

Huntington's disease is a hereditary condition with an autosomal dominant inheritance pattern.

Mutation /mjuːˈteɪʃn/:

جهش ژنتیکی

The blood test will look for the presence of a specific mutation that is known to cause the disease.

Non-directive Counseling /nɒn daɪˈrektɪv ˈkaʊnsəlɪŋ/:

مشاوره غیرمستقیم

Our practice is one of non-directive counseling; we provide facts and probabilities, but the final choice is yours.

Prenatal Testing /ˌpriːˈneɪtl ˈtestɪŋ/:

آزمایش‌های پیش از تولد

Prenatal testing, such as chorionic villus sampling (CVS) or amniocentesis, can diagnose genetic conditions before birth.

Probability / Likelihood /ˌprɒbəˈbɪləti/ /ˈlaɪklihʊd/:

احتمال

If both you and your partner are carriers, the probability of having an affected child is 25%, or one in four, for each pregnancy.

Part 3: Pre-Class Practice Tests

Reading Task (Longer & More Professional):

Excerpt from "The Journal of Medical Ethics"

Title: Ethical Dimensions of Prenatal Screening for Adult-Onset Conditions

The rapid advancement of genetic technology presents new ethical quandaries for prenatal testing. While screening for severe, childhood-onset diseases like Tay-Sachs is now routine, the capacity to test for adult-onset conditions, such as Huntington's disease or the BRCA1 mutation, raises complex issues. These conditions do not affect the fetus or child; instead, they confer a probability of developing a disease decades later in life. This introduces a tension between the parental desire to prevent suffering and the future autonomy of the child.

The core ethical principle at stake is the child's "right to an open future." By testing for an adult-onset condition prenatally, are we removing the future adult's right to decide for themselves whether or not to know their genetic predisposition? A positive result removes this choice entirely. This knowledge can have a profound mental and emotional impact, influencing life choices, career paths, and relationships. Proponents of testing argue that parents have a right to this information for family planning.

Therefore, non-directive counseling is of paramount importance in this context. The role of the genetic counselor is not to advocate for or against such testing, but to facilitate a deep exploration of the family's values. The conversation must move beyond the medical facts to discuss the potential life-long impact of this information on a future person. It requires a discussion about what it means to live with a genetic risk and whether it is a parent's right to make that decision for their child.

Question: What is the main ethical conflict the author describes regarding prenatal testing for adult-onset diseases?

Listening Task (Part B Simulation):

Scenario: You will hear a senior research nurse briefing a junior colleague on how to obtain consent from patients for a study that involves genetic testing.

0:00

Task: What does the senior nurse say is the most important point to emphasize to participants?

Part 4: Answer Key for Pre-Class Work

Reading Answer: b) The parents' right to information versus the future child's right to choose whether to know their genetic status.

Listening Answer: b) That their genetic information will be kept strictly confidential.

Part 5: In-Class Preparation

This section is designed specifically for doctors. Be prepared to discuss the vocabulary and practice the following tasks in class.

Speaking Task: OET Role-Play Card (Medicine)

Setting: Your GP office.

Patient: A young couple (e.g., in their late 20s) who are planning to start a family. The woman's brother has cystic fibrosis. They are anxious and have come to you to ask about the risk to their own future children.

Task:

  1. Acknowledge their concerns and praise them for planning ahead.
  2. Explain the concept of an autosomal recessive condition.
  3. Explain what being a carrier means.
  4. Explain the probability of having an affected child (i.e., there is a 1 in 4 chance if they are both carriers). Use a simple analogy or draw a diagram.
  5. Introduce the option of carrier screening for both of them as a way to get a definite answer.
  6. Maintain a non-directive approach throughout, emphasizing the choice is theirs.

Writing Task:

You are the doctor from the speaking scenario. The couple has decided they would like to proceed with carrier screening. Write a formal referral letter to your local Clinical Genetics Service. The letter must summarize the relevant family history and the reason for referral (i.e., pre-conception carrier screening for cystic fibrosis).