AQA · A-Level · Biology

    Course version: 7402 · Version from Sept 2016

    The use of this information in genetic counselling and personalised…

    Full specification wording

    Differences in DNA between individuals of the same species can be exploited: The use of this information in genetic counselling and personalised medicine.

    Genetic counselling provides advice following screening.

    Checked against the AQA 7402 specification (opens in a new tab) on .

    • Point 3 of 4
    • 3 key terms

    Study notes

    From the checked teaching notes for this specification point.

    The idea

    Genetic counselling provides advice following screening. A counsellor takes a family history, draws a pedigree, and explains the results (e.g., carrier status). They calculate the probability of passing on an allele using genetic diagrams and discuss options like IVF with embryo screening, enabling an informed decision. Personalised medicine uses this genetic information to tailor treatments. Because individuals possess different alleles for enzymes that metabolise drugs, a standard dose might be toxic or ineffective. Knowing a patient's genotype allows doctors to prescribe the specific drug and dosage most effective for their DNA profile, reducing harmful side effects.

    What earns the marks

    • Genetic counselling providing information about the risk of passing on a condition to enable an informed decision.
    • Calculating the probability of an affected child using a pedigree or genetic diagram.
    • Personalised medicine matching a specific drug or dose to an individual's DNA genotype.
    • Explaining that this prevents harmful side effects or avoids prescribing ineffective treatments.
    • A valid DNA-based example, such as testing TPMT alleles to adjust azathioprine dosage.

    Common mistakes and how to put them right

    • Stating the counsellor makes medical decisions for the patient, rather than providing information for an informed choice.

    • Using protein-level tests (like ER-positive breast cancer) as examples of DNA-based personalised medicine, instead of specific alleles.

    • Confusing personalised medicine with gene therapy.

      Put it right: Personalised medicine selects treatments based on alleles, while gene therapy alters them.

    Exam tips

    • Use the phrase 'informed decision'—counselling questions focus on providing information, not dictating choices.
    • For personalised medicine, explicitly mention how differing alleles affect drug metabolism or enzyme shape.

    Try the lesson

    The start of the Differences in DNA between individuals of the same species can be exploited: The use of this information in genetic counselling and personalised medicine. lesson, made from checked teaching notes for this specification point.

    Have a go first

    What is the main purpose of genetic counselling for a person who has a family history of an inherited disorder?

    Listen

    Genetic counselling provides advice following screening. A counsellor takes a family history, draws a pedigree, and explains the results (e.g., carrier status). They calculate the probability of passing on an allele using genetic diagrams and discuss options like IVF with embryo screening, enabling an informed decision. Personalised medicine uses this genetic information to tailor treatments. Because individuals possess different alleles for enzymes that metabolise drugs, a standard dose might be toxic or ineffective. Knowing a patient's genotype allows doctors to prescribe the specific drug and dosage most effective for their DNA profile, reducing harmful side effects. A strong answer earns marks for these points. genetic counselling providing information about the risk of passing on a condition to enable an informed decision. calculating the probability of an affected child using a pedigree or genetic diagram. personalised medicine matching a specific drug or dose to an individual's DNA genotype. explaining that this prevents harmful side effects or avoids prescribing ineffective treatments. Exam tip: Use the phrase 'informed decision'—counselling questions focus on providing information, not dictating choices.

    See it

    A flowchart starting from a single node, genetic information, which branches into two uses. The first branch is genetic counselling, which leads to six steps: takes a family history; draws a pedigree; calculates probability of passing on an allele using genetic diagrams; explains results, e.g. carrier status; discusses options, e.g. IVF with embryo screening; and enables an informed decision. The second branch is personalised medicine, which notes that individuals possess different alleles for enzymes that metabolise drugs, meaning a standard dose might be toxic or ineffective; knowing the genotype allows a specific drug and dosage to be prescribed, which reduces harmful side effects.
    How genetic information is used in genetic counselling and in personalised medicine.

    Key words

    Say what each word means before you turn the card.

    genetic counselling

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    informed decision

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    personalised medicine

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    See every definition
    genetic counselling
    Provides advice following screening, taking a family history, drawing a pedigree and explaining the results to enable an informed decision.
    informed decision
    A choice enabled by counselling that provides information about the risk of passing on a condition rather than dictating choices.
    personalised medicine
    Uses genetic information to tailor treatments, matching a specific drug or dose to an individual's DNA genotype.

    Label the diagram

    Some boxes have lost their names. Pick the right name for each number.

    The diagram again, with 3 boxes numbered instead of named. A flowchart starting from a single node, genetic information, which branches into two uses. The first branch is genetic counselling, which leads to six steps: takes a family history; draws a pedigree; calculates probability of passing on an allele using genetic diagrams; explains results, e.g. carrier status; discusses options, e.g. IVF with embryo screening; and enables an informed decision. The second branch is personalised medicine, which notes that individuals possess different alleles for enzymes that metabolise drugs, meaning a standard dose might be toxic or ineffective; knowing the genotype allows a specific drug and dosage to be prescribed, which reduces harmful side effects.
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    • 3Box 3

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