2.6.2 Carrier Testing

• What is carrier testing?

  Genetic screening for mutated alleles
• Individuals identified as carriers through testing have one normal and one mutated allele
• A carrier of the gene for cystic fibrosis does not suffer from the disease themselves.
• Carrier testing is particularly valuable for couples planning to have children
• What is the likelihood that a child will develop a genetic disease if both parents are carriers?

  25%
• Steps in targeted carrier testing

  1️⃣ Identify specific genetic disorders based on family history

  2️⃣ Collect a sample for testing

  3️⃣ Analyze the sample for mutated alleles

  4️⃣ Interpret the results
• Match the type of carrier testing with its purpose:

  Targeted Carrier Testing ↔️ Checks for specific disorders

  Expanded Carrier Testing ↔️ Screens for a broad range of disorders
• What is the primary purpose of carrier testing for couples planning to have children?

  Understand genetic disorder risks
• Carrier testing helps couples make informed decisions about family planning
• If both parents are cystic fibrosis carriers, there is a 25% chance their child will develop the disease.
• What is the main purpose of carrier testing?

  Identify mutated allele carriers
• If both parents are carriers of cystic fibrosis, their child has a 50% chance of developing the disease.

  False
• Carrier testing allows couples to consider options like preimplantation genetic diagnosis
• Who should consider carrier testing?

  Those planning to have children
• Targeted carrier testing screens for hundreds of genetic disorders simultaneously.

  False
• Targeted carrier testing is economical because it checks for specific disorders
• What is the benefit of expanded carrier testing?

  Comprehensive overview of carrier status
• Steps in the carrier testing process

  1️⃣ Sample Collection

  2️⃣ DNA Extraction

  3️⃣ Analysis

  4️⃣ Results Interpretation
• Who interprets the results of carrier testing?

  Genetic counselors
• Individuals undergoing carrier testing must provide informed consent
• What psychological impact can carrier testing have on individuals?

  Anxiety or guilt
• Legal protections are needed to prevent genetic discrimination based on carrier status.
• A positive carrier test result means the individual carries one mutated and one normal allele
• What is the recurrence risk for cystic fibrosis if both parents are carriers?

  25%
• Match the type of carrier testing with its purpose:

  Targeted Carrier Testing ↔️ Checks for specific disorders

  Expanded Carrier Testing ↔️ Screens for a broader range of disorders
• What type of testing can someone with a sibling affected by sickle cell anemia undergo?

  Carrier testing
• Couples planning children might opt for carrier testing to screen for spinal muscular atrophy or fragile X syndrome
• Carrier testing is categorized into targeted and expanded testing.
• Match the type of carrier testing with its purpose:

  Targeted Carrier Testing ↔️ Checks for specific genetic disorders based on family history

  Expanded Carrier Testing ↔️ Screens for a broader range of genetic disorders
• What is an example of targeted carrier testing based on family history?

  Cystic fibrosis
• Expanded carrier testing screens for a broader range of genetic disorders, often hundreds at once
• The first step in carrier testing is DNA extraction.

  False
• Steps in the carrier testing process:

  1️⃣ Sample Collection

  2️⃣ DNA Extraction

  3️⃣ DNA Analysis

  4️⃣ Results Interpretation
• What type of sample is typically used for carrier testing?

  Blood or saliva
• The extracted DNA is analyzed for specific mutations associated with genetic disorders
• If both parents are carriers for a genetic disorder, there is a 25% risk their child will inherit the disease.
• Match the ethical consideration with its description:

  Privacy ↔️ Confidentiality of test results

  Autonomy ↔️ Individual's right to decide on testing

  Psychological Impact ↔️ Coping with test results
• What is an example of ensuring privacy in carrier testing?

  Employers cannot access results
• Autonomy in carrier testing means individuals have the right to decide whether to undergo testing.
• What is the recurrence risk for a child if both parents are carriers for a genetic disorder?

  25%